Incidental Mutation 'R4909:Ktn1'
| ID |
379325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ktn1
|
| Ensembl Gene |
ENSMUSG00000021843 |
| Gene Name |
kinectin 1 |
| Synonyms |
|
| MMRRC Submission |
042511-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4909 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47886551-47974021 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 47943917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 866
(R866W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022391]
[ENSMUST00000185343]
[ENSMUST00000185940]
[ENSMUST00000186627]
[ENSMUST00000186761]
[ENSMUST00000187039]
[ENSMUST00000188553]
[ENSMUST00000190535]
[ENSMUST00000191446]
[ENSMUST00000190252]
[ENSMUST00000190182]
[ENSMUST00000187839]
[ENSMUST00000190999]
[ENSMUST00000189101]
[ENSMUST00000188330]
[ENSMUST00000191018]
[ENSMUST00000189533]
[ENSMUST00000187262]
[ENSMUST00000189986]
[ENSMUST00000191511]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022391
AA Change: R889W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022391
Gene: ENSMUSG00000021843
AA Change: R889W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
1028 |
N/A |
INTRINSIC |
|
coiled coil region
|
1089 |
1267 |
N/A |
INTRINSIC |
|
coiled coil region
|
1302 |
1326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185343
AA Change: R866W
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140186
Gene: ENSMUSG00000021843
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
836 |
1005 |
N/A |
INTRINSIC |
|
coiled coil region
|
1066 |
1192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185940
AA Change: R866W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139625
Gene: ENSMUSG00000021843
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1163 |
N/A |
INTRINSIC |
|
coiled coil region
|
1198 |
1222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186627
AA Change: R866W
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140873
Gene: ENSMUSG00000021843
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1191 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186700
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186761
AA Change: R889W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139521
Gene: ENSMUSG00000021843
AA Change: R889W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
1016 |
N/A |
INTRINSIC |
|
coiled coil region
|
1060 |
1210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187039
AA Change: R866W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140202
Gene: ENSMUSG00000021843
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1163 |
N/A |
INTRINSIC |
|
coiled coil region
|
1198 |
1222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188553
AA Change: R866W
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140865
Gene: ENSMUSG00000021843
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
836 |
1005 |
N/A |
INTRINSIC |
|
coiled coil region
|
1066 |
1216 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190535
AA Change: R866W
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139952
Gene: ENSMUSG00000021843
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
836 |
1005 |
N/A |
INTRINSIC |
|
coiled coil region
|
1066 |
1244 |
N/A |
INTRINSIC |
|
coiled coil region
|
1279 |
1303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191446
AA Change: R889W
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140748
Gene: ENSMUSG00000021843
AA Change: R889W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
1028 |
N/A |
INTRINSIC |
|
coiled coil region
|
1089 |
1215 |
N/A |
INTRINSIC |
|
coiled coil region
|
1250 |
1274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190252
AA Change: R889W
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140011
Gene: ENSMUSG00000021843
AA Change: R889W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
1016 |
N/A |
INTRINSIC |
|
coiled coil region
|
1060 |
1210 |
N/A |
INTRINSIC |
|
coiled coil region
|
1245 |
1269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190182
AA Change: R889W
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140301
Gene: ENSMUSG00000021843
AA Change: R889W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
1016 |
N/A |
INTRINSIC |
|
coiled coil region
|
1060 |
1238 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187839
AA Change: R889W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140324
Gene: ENSMUSG00000021843
AA Change: R889W
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
1028 |
N/A |
INTRINSIC |
|
coiled coil region
|
1089 |
1267 |
N/A |
INTRINSIC |
|
coiled coil region
|
1302 |
1326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190999
AA Change: R866W
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139673
Gene: ENSMUSG00000021843
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1215 |
N/A |
INTRINSIC |
|
coiled coil region
|
1250 |
1274 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189101
AA Change: R866W
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140178
Gene: ENSMUSG00000021843
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188330
AA Change: R866W
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140845
Gene: ENSMUSG00000021843
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1187 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191018
AA Change: R866W
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139585
Gene: ENSMUSG00000021843
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
836 |
1005 |
N/A |
INTRINSIC |
|
coiled coil region
|
1066 |
1220 |
N/A |
INTRINSIC |
|
coiled coil region
|
1255 |
1279 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189533
AA Change: R866W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140142
Gene: ENSMUSG00000021843
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1187 |
N/A |
INTRINSIC |
|
coiled coil region
|
1222 |
1246 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187262
AA Change: R889W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140206
Gene: ENSMUSG00000021843
AA Change: R889W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
1028 |
N/A |
INTRINSIC |
|
coiled coil region
|
1089 |
1215 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190164
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189986
|
| SMART Domains |
Protein: ENSMUSP00000139970
Gene: ENSMUSG00000021843
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rib_recp_KP_reg
|
29 |
172 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191511
AA Change: R866W
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139946
Gene: ENSMUSG00000021843
AA Change: R866W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
|
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
|
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
|
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
|
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
|
coiled coil region
|
836 |
1005 |
N/A |
INTRINSIC |
|
coiled coil region
|
1066 |
1192 |
N/A |
INTRINSIC |
|
coiled coil region
|
1227 |
1251 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
| Validation Efficiency |
97% (101/104) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted null mutation or a floxed allele exhibit no discernable phenotype; mice are viable and fertile up to one year of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030C10Rik |
A |
T |
12: 20,865,089 (GRCm39) |
|
noncoding transcript |
Het |
| Aars1 |
G |
A |
8: 111,781,715 (GRCm39) |
G929D |
probably damaging |
Het |
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Actn4 |
A |
T |
7: 28,598,082 (GRCm39) |
L506Q |
probably damaging |
Het |
| Adam26a |
A |
T |
8: 44,023,475 (GRCm39) |
F5Y |
probably benign |
Het |
| Adamts5 |
G |
A |
16: 85,696,954 (GRCm39) |
Q68* |
probably null |
Het |
| Adcy9 |
A |
G |
16: 4,116,618 (GRCm39) |
I871T |
probably benign |
Het |
| Ak5 |
A |
T |
3: 152,361,514 (GRCm39) |
L136H |
probably damaging |
Het |
| Ap1g2 |
A |
G |
14: 55,342,483 (GRCm39) |
|
probably null |
Het |
| Ap2a1 |
G |
A |
7: 44,555,805 (GRCm39) |
T355M |
probably damaging |
Het |
| Ap3s2 |
T |
C |
7: 79,564,989 (GRCm39) |
D60G |
possibly damaging |
Het |
| Apold1 |
G |
A |
6: 134,960,558 (GRCm39) |
R4Q |
probably benign |
Het |
| Atp13a5 |
G |
T |
16: 29,152,846 (GRCm39) |
Q207K |
possibly damaging |
Het |
| BC035947 |
A |
C |
1: 78,474,666 (GRCm39) |
I622S |
probably damaging |
Het |
| Bmper |
G |
T |
9: 23,289,021 (GRCm39) |
V339F |
probably benign |
Het |
| Btbd8 |
C |
T |
5: 107,655,176 (GRCm39) |
Q992* |
probably null |
Het |
| C1ra |
A |
G |
6: 124,499,293 (GRCm39) |
D493G |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,533,830 (GRCm39) |
|
probably null |
Het |
| Cabp4 |
T |
A |
19: 4,187,120 (GRCm39) |
I209F |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,007,342 (GRCm39) |
H453L |
probably damaging |
Het |
| Camk2g |
A |
G |
14: 20,842,652 (GRCm39) |
V32A |
probably benign |
Het |
| Ccdc175 |
G |
A |
12: 72,206,527 (GRCm39) |
R240C |
probably damaging |
Het |
| Cdk13 |
C |
T |
13: 17,946,988 (GRCm39) |
S590N |
possibly damaging |
Het |
| Cfap45 |
A |
T |
1: 172,357,443 (GRCm39) |
T24S |
probably benign |
Het |
| Clca3a1 |
T |
G |
3: 144,730,324 (GRCm39) |
K174Q |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,529,058 (GRCm39) |
|
probably benign |
Het |
| Colgalt1 |
A |
T |
8: 72,073,277 (GRCm39) |
I323F |
possibly damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,152,059 (GRCm39) |
S106T |
probably damaging |
Het |
| Cpeb3 |
T |
C |
19: 37,151,633 (GRCm39) |
S248G |
possibly damaging |
Het |
| Ctcfl |
C |
T |
2: 172,937,191 (GRCm39) |
A576T |
probably benign |
Het |
| Cyp4f16 |
T |
G |
17: 32,769,295 (GRCm39) |
V395G |
possibly damaging |
Het |
| Dchs1 |
C |
T |
7: 105,415,462 (GRCm39) |
G605S |
probably damaging |
Het |
| Egflam |
A |
T |
15: 7,249,110 (GRCm39) |
F903I |
probably damaging |
Het |
| Eif5a |
G |
A |
11: 69,808,311 (GRCm39) |
A62V |
possibly damaging |
Het |
| Fam217a |
A |
G |
13: 35,094,389 (GRCm39) |
S609P |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,712,822 (GRCm39) |
I206F |
probably benign |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,856,617 (GRCm39) |
M2000K |
probably benign |
Het |
| Frmd5 |
C |
T |
2: 121,422,134 (GRCm39) |
|
probably null |
Het |
| Gle1 |
T |
C |
2: 29,826,092 (GRCm39) |
L57P |
probably benign |
Het |
| Glrx3 |
C |
A |
7: 137,046,765 (GRCm39) |
N52K |
probably damaging |
Het |
| Grin3b |
A |
G |
10: 79,812,938 (GRCm39) |
*1004W |
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,401,954 (GRCm39) |
F347L |
probably benign |
Het |
| Htra1 |
G |
A |
7: 130,586,802 (GRCm39) |
V462I |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,662,581 (GRCm39) |
Y518C |
probably damaging |
Het |
| Krtap15-1 |
T |
C |
16: 88,626,253 (GRCm39) |
F88L |
probably benign |
Het |
| Lamb1 |
G |
A |
12: 31,338,280 (GRCm39) |
R483H |
probably damaging |
Het |
| Megf6 |
C |
T |
4: 154,349,848 (GRCm39) |
R983C |
probably damaging |
Het |
| Mybpc3 |
T |
A |
2: 90,965,157 (GRCm39) |
D1075E |
probably benign |
Het |
| Myo7b |
A |
T |
18: 32,097,489 (GRCm39) |
N1792K |
probably benign |
Het |
| Nabp2 |
A |
T |
10: 128,237,556 (GRCm39) |
|
probably benign |
Het |
| Neil3 |
A |
G |
8: 54,091,928 (GRCm39) |
C7R |
probably damaging |
Het |
| Nxpe2 |
T |
A |
9: 48,230,897 (GRCm39) |
I491F |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,952,291 (GRCm39) |
V4292A |
possibly damaging |
Het |
| Ogfod3 |
A |
G |
11: 121,088,318 (GRCm39) |
S139P |
probably damaging |
Het |
| Oog2 |
T |
C |
4: 143,921,669 (GRCm39) |
I211T |
possibly damaging |
Het |
| Oosp1 |
T |
C |
19: 11,666,080 (GRCm39) |
D70G |
probably benign |
Het |
| Or10j2 |
A |
T |
1: 173,098,546 (GRCm39) |
D268V |
probably damaging |
Het |
| Or1ab2 |
A |
G |
8: 72,863,425 (GRCm39) |
N5S |
probably damaging |
Het |
| Or56a42-ps1 |
C |
A |
7: 104,777,435 (GRCm39) |
V70L |
probably benign |
Het |
| Or6c210 |
A |
G |
10: 129,496,589 (GRCm39) |
I305V |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,522,937 (GRCm39) |
D345G |
probably damaging |
Het |
| Pcyt2 |
A |
G |
11: 120,506,246 (GRCm39) |
F71L |
probably benign |
Het |
| Pi4k2b |
T |
C |
5: 52,911,971 (GRCm39) |
|
probably benign |
Het |
| Pigr |
A |
C |
1: 130,776,195 (GRCm39) |
T577P |
possibly damaging |
Het |
| Pirb |
G |
A |
7: 3,722,361 (GRCm39) |
Q161* |
probably null |
Het |
| Pnlip |
A |
G |
19: 58,664,672 (GRCm39) |
E204G |
possibly damaging |
Het |
| Pop7 |
G |
T |
5: 137,500,161 (GRCm39) |
D57E |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,260,239 (GRCm39) |
I8N |
probably damaging |
Het |
| Pprc1 |
A |
G |
19: 46,052,758 (GRCm39) |
T759A |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,202,894 (GRCm39) |
N213S |
probably benign |
Het |
| Prop1 |
GCTTCACT |
GCTTCACTTCACT |
11: 50,842,863 (GRCm39) |
|
probably null |
Het |
| Prop1 |
A |
T |
11: 50,842,872 (GRCm39) |
L105H |
probably damaging |
Het |
| Pwp2 |
A |
T |
10: 78,018,328 (GRCm39) |
M121K |
possibly damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,689,509 (GRCm39) |
M161K |
possibly damaging |
Het |
| Rps6kb2 |
T |
A |
19: 4,207,002 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
A |
G |
3: 79,552,109 (GRCm39) |
S731P |
probably benign |
Het |
| Scfd1 |
T |
C |
12: 51,437,195 (GRCm39) |
V137A |
probably benign |
Het |
| Slc6a15 |
G |
A |
10: 103,240,275 (GRCm39) |
D333N |
probably damaging |
Het |
| Sqor |
T |
C |
2: 122,627,101 (GRCm39) |
V74A |
possibly damaging |
Het |
| Stil |
T |
A |
4: 114,881,422 (GRCm39) |
Y655* |
probably null |
Het |
| Syt14 |
A |
T |
1: 192,581,167 (GRCm39) |
I468K |
probably damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,825,661 (GRCm39) |
|
probably null |
Het |
| Tspyl5 |
A |
T |
15: 33,686,995 (GRCm39) |
S317T |
probably damaging |
Het |
| Ttf1 |
C |
T |
2: 28,954,668 (GRCm39) |
H11Y |
possibly damaging |
Het |
| Ttf2 |
T |
C |
3: 100,861,631 (GRCm39) |
T620A |
probably damaging |
Het |
| Usp32 |
G |
A |
11: 84,946,598 (GRCm39) |
Q269* |
probably null |
Het |
| Vsig10 |
T |
A |
5: 117,476,308 (GRCm39) |
V254E |
probably benign |
Het |
| Wdr6 |
C |
T |
9: 108,450,187 (GRCm39) |
A1114T |
probably benign |
Het |
| Zfp280d |
A |
G |
9: 72,238,714 (GRCm39) |
S63G |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,403,221 (GRCm39) |
D559G |
probably benign |
Het |
| Zfp934 |
T |
C |
13: 62,665,768 (GRCm39) |
H291R |
probably damaging |
Het |
|
| Other mutations in Ktn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Ktn1
|
APN |
14 |
47,946,335 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01109:Ktn1
|
APN |
14 |
47,952,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02300:Ktn1
|
APN |
14 |
47,927,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02339:Ktn1
|
APN |
14 |
47,920,835 (GRCm39) |
splice site |
probably benign |
|
|
IGL02525:Ktn1
|
APN |
14 |
47,962,200 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02565:Ktn1
|
APN |
14 |
47,910,391 (GRCm39) |
splice site |
probably benign |
|
|
IGL02678:Ktn1
|
APN |
14 |
47,971,610 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03181:Ktn1
|
APN |
14 |
47,970,741 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03393:Ktn1
|
APN |
14 |
47,928,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4520001:Ktn1
|
UTSW |
14 |
47,923,774 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0035:Ktn1
|
UTSW |
14 |
47,967,836 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0035:Ktn1
|
UTSW |
14 |
47,967,836 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0270:Ktn1
|
UTSW |
14 |
47,952,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0370:Ktn1
|
UTSW |
14 |
47,901,532 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0371:Ktn1
|
UTSW |
14 |
47,961,460 (GRCm39) |
nonsense |
probably null |
|
|
R0530:Ktn1
|
UTSW |
14 |
47,970,700 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0531:Ktn1
|
UTSW |
14 |
47,901,398 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0611:Ktn1
|
UTSW |
14 |
47,932,073 (GRCm39) |
missense |
probably benign |
|
|
R0836:Ktn1
|
UTSW |
14 |
47,938,519 (GRCm39) |
splice site |
probably null |
|
|
R1076:Ktn1
|
UTSW |
14 |
47,932,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1522:Ktn1
|
UTSW |
14 |
47,904,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1554:Ktn1
|
UTSW |
14 |
47,932,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Ktn1
|
UTSW |
14 |
47,932,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2040:Ktn1
|
UTSW |
14 |
47,938,069 (GRCm39) |
splice site |
probably benign |
|
|
R2080:Ktn1
|
UTSW |
14 |
47,963,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2110:Ktn1
|
UTSW |
14 |
47,931,345 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2144:Ktn1
|
UTSW |
14 |
47,952,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3730:Ktn1
|
UTSW |
14 |
47,938,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3780:Ktn1
|
UTSW |
14 |
47,943,860 (GRCm39) |
splice site |
probably benign |
|
|
R3782:Ktn1
|
UTSW |
14 |
47,943,860 (GRCm39) |
splice site |
probably benign |
|
|
R4414:Ktn1
|
UTSW |
14 |
47,962,387 (GRCm39) |
nonsense |
probably null |
|
|
R4610:Ktn1
|
UTSW |
14 |
47,963,636 (GRCm39) |
intron |
probably benign |
|
|
R4784:Ktn1
|
UTSW |
14 |
47,930,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4838:Ktn1
|
UTSW |
14 |
47,963,413 (GRCm39) |
nonsense |
probably null |
|
|
R4976:Ktn1
|
UTSW |
14 |
47,907,756 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5110:Ktn1
|
UTSW |
14 |
47,941,744 (GRCm39) |
splice site |
probably benign |
|
|
R5257:Ktn1
|
UTSW |
14 |
47,904,820 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5469:Ktn1
|
UTSW |
14 |
47,928,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5600:Ktn1
|
UTSW |
14 |
47,927,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Ktn1
|
UTSW |
14 |
47,971,554 (GRCm39) |
intron |
probably benign |
|
|
R5608:Ktn1
|
UTSW |
14 |
47,971,554 (GRCm39) |
intron |
probably benign |
|
|
R5920:Ktn1
|
UTSW |
14 |
47,961,481 (GRCm39) |
nonsense |
probably null |
|
|
R6045:Ktn1
|
UTSW |
14 |
47,914,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Ktn1
|
UTSW |
14 |
47,963,672 (GRCm39) |
splice site |
probably null |
|
|
R6282:Ktn1
|
UTSW |
14 |
47,901,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6654:Ktn1
|
UTSW |
14 |
47,927,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6957:Ktn1
|
UTSW |
14 |
47,904,810 (GRCm39) |
nonsense |
probably null |
|
|
R6959:Ktn1
|
UTSW |
14 |
47,957,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Ktn1
|
UTSW |
14 |
47,943,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7206:Ktn1
|
UTSW |
14 |
47,932,985 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7442:Ktn1
|
UTSW |
14 |
47,952,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7462:Ktn1
|
UTSW |
14 |
47,932,089 (GRCm39) |
missense |
probably null |
1.00 |
|
R7513:Ktn1
|
UTSW |
14 |
47,901,541 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7743:Ktn1
|
UTSW |
14 |
47,907,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8010:Ktn1
|
UTSW |
14 |
47,943,230 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8062:Ktn1
|
UTSW |
14 |
47,962,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8244:Ktn1
|
UTSW |
14 |
47,912,280 (GRCm39) |
missense |
probably null |
1.00 |
|
R8387:Ktn1
|
UTSW |
14 |
47,944,744 (GRCm39) |
splice site |
probably null |
|
|
R8724:Ktn1
|
UTSW |
14 |
47,931,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8725:Ktn1
|
UTSW |
14 |
47,907,757 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8962:Ktn1
|
UTSW |
14 |
47,901,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9001:Ktn1
|
UTSW |
14 |
47,910,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9072:Ktn1
|
UTSW |
14 |
47,941,694 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9324:Ktn1
|
UTSW |
14 |
47,948,353 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9423:Ktn1
|
UTSW |
14 |
47,912,318 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9479:Ktn1
|
UTSW |
14 |
47,962,174 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9674:Ktn1
|
UTSW |
14 |
47,922,213 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9718:Ktn1
|
UTSW |
14 |
47,910,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Ktn1
|
UTSW |
14 |
47,929,895 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTGTCCAGTGATGGGTAAC -3'
(R):5'- TGCTACCTCCTGAACACAAG -3'
Sequencing Primer
(F):5'- ATTGGTGTCTCAAATCTCATATTCC -3'
(R):5'- CTCCTGAACACAAGCCTTTAAAG -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation