Incidental Mutation 'R7513:Ktn1'
| ID |
582251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ktn1
|
| Ensembl Gene |
ENSMUSG00000021843 |
| Gene Name |
kinectin 1 |
| Synonyms |
|
| MMRRC Submission |
045586-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7513 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
47886551-47974021 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 47901541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 100
(A100P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022391]
[ENSMUST00000185343]
[ENSMUST00000185940]
[ENSMUST00000186466]
[ENSMUST00000186627]
[ENSMUST00000186761]
[ENSMUST00000187039]
[ENSMUST00000187262]
[ENSMUST00000187839]
[ENSMUST00000188330]
[ENSMUST00000188553]
[ENSMUST00000189101]
[ENSMUST00000189533]
[ENSMUST00000189986]
[ENSMUST00000190182]
[ENSMUST00000190252]
[ENSMUST00000190535]
[ENSMUST00000190999]
[ENSMUST00000191018]
[ENSMUST00000191446]
[ENSMUST00000191511]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022391
AA Change: A100P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000022391
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000185343
AA Change: A100P
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140186
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000185940
AA Change: A100P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139625
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000186466
AA Change: A100P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140523
Gene: ENSMUSG00000021843
AA Change: A100P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rib_recp_KP_reg
|
29 |
173 |
9.6e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186627
AA Change: A100P
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140873
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000186761
AA Change: A100P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139521
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000187039
AA Change: A100P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140202
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000187262
AA Change: A100P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140206
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000187839
AA Change: A100P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140324
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000188330
AA Change: A100P
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140845
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000188553
AA Change: A100P
PolyPhen 2
Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140865
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000189101
AA Change: A100P
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140178
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000189533
AA Change: A100P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140142
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000189986
AA Change: A100P
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139970
Gene: ENSMUSG00000021843
AA Change: A100P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rib_recp_KP_reg
|
29 |
172 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190182
AA Change: A100P
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140301
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000190252
AA Change: A100P
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140011
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000190535
AA Change: A100P
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139952
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000190999
AA Change: A100P
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139673
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000191018
AA Change: A100P
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139585
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000191446
AA Change: A100P
PolyPhen 2
Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140748
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
possibly damaging
Transcript: ENSMUST00000191511
AA Change: A100P
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139946
Gene: ENSMUSG00000021843
AA Change: A100P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,765,771 (GRCm39) |
W694* |
probably null |
Het |
| Accs |
T |
C |
2: 93,670,437 (GRCm39) |
N256S |
possibly damaging |
Het |
| Agmo |
C |
T |
12: 37,294,352 (GRCm39) |
T100I |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,078,670 (GRCm39) |
D341G |
probably benign |
Het |
| Apol7c |
T |
A |
15: 77,409,911 (GRCm39) |
E345V |
possibly damaging |
Het |
| Arl5a |
A |
G |
2: 52,302,157 (GRCm39) |
F86L |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,686,057 (GRCm39) |
E211G |
probably benign |
Het |
| B020011L13Rik |
T |
A |
1: 117,729,149 (GRCm39) |
C219S |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,955,803 (GRCm39) |
L579Q |
probably benign |
Het |
| Cd84 |
T |
A |
1: 171,712,185 (GRCm39) |
V267E |
probably benign |
Het |
| Cdcp3 |
G |
A |
7: 130,873,800 (GRCm39) |
G1709R |
unknown |
Het |
| Clec11a |
T |
C |
7: 43,955,780 (GRCm39) |
E89G |
probably benign |
Het |
| Csrnp2 |
C |
A |
15: 100,380,297 (GRCm39) |
E331D |
probably benign |
Het |
| Cyp2d12 |
C |
A |
15: 82,442,621 (GRCm39) |
H355N |
probably benign |
Het |
| Ddx24 |
C |
A |
12: 103,385,365 (GRCm39) |
G413* |
probably null |
Het |
| Dhx38 |
G |
A |
8: 110,287,221 (GRCm39) |
P249L |
probably benign |
Het |
| Dip2a |
A |
T |
10: 76,149,069 (GRCm39) |
M233K |
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,105,629 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,692,242 (GRCm39) |
S1003P |
unknown |
Het |
| Dna2 |
A |
G |
10: 62,807,747 (GRCm39) |
D1033G |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,370,561 (GRCm39) |
S2834P |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,163,506 (GRCm39) |
S437A |
probably benign |
Het |
| Eif5 |
A |
T |
12: 111,506,686 (GRCm39) |
I93F |
probably damaging |
Het |
| Fbxo47 |
A |
G |
11: 97,747,055 (GRCm39) |
F337S |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,546,941 (GRCm39) |
I1086T |
probably damaging |
Het |
| Ifi208 |
A |
T |
1: 173,523,220 (GRCm39) |
R497* |
probably null |
Het |
| Igfn1 |
T |
G |
1: 135,887,705 (GRCm39) |
D2453A |
probably damaging |
Het |
| Ighg2c |
A |
T |
12: 113,252,471 (GRCm39) |
L27Q |
|
Het |
| Jak1 |
C |
T |
4: 101,048,848 (GRCm39) |
C10Y |
probably damaging |
Het |
| Kif7 |
T |
A |
7: 79,360,776 (GRCm39) |
N200Y |
possibly damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,843,497 (GRCm39) |
D136G |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,046,683 (GRCm39) |
L648P |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,294,952 (GRCm39) |
I3116V |
probably benign |
Het |
| Mmp10 |
A |
T |
9: 7,508,128 (GRCm39) |
D418V |
probably damaging |
Het |
| Mrpl24 |
A |
T |
3: 87,829,734 (GRCm39) |
T107S |
probably benign |
Het |
| Mycbpap |
T |
A |
11: 94,394,382 (GRCm39) |
D296V |
probably damaging |
Het |
| Mycn |
C |
A |
12: 12,989,743 (GRCm39) |
A218S |
probably benign |
Het |
| Myo1f |
G |
T |
17: 33,794,788 (GRCm39) |
W9C |
probably damaging |
Het |
| Nckap1 |
T |
A |
2: 80,332,635 (GRCm39) |
K1074N |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,099,552 (GRCm39) |
D4766G |
possibly damaging |
Het |
| Nhsl1 |
T |
C |
10: 18,399,700 (GRCm39) |
S275P |
probably damaging |
Het |
| Or2d3c |
A |
G |
7: 106,526,483 (GRCm39) |
F61S |
possibly damaging |
Het |
| Or5k16 |
T |
A |
16: 58,736,295 (GRCm39) |
K236N |
probably damaging |
Het |
| Pam |
G |
A |
1: 97,780,910 (GRCm39) |
P514S |
possibly damaging |
Het |
| Pcdha4 |
C |
T |
18: 37,086,392 (GRCm39) |
L192F |
probably damaging |
Het |
| Per1 |
T |
A |
11: 68,996,397 (GRCm39) |
D800E |
probably benign |
Het |
| Plcg2 |
C |
A |
8: 118,306,592 (GRCm39) |
N315K |
probably damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,042,525 (GRCm39) |
|
probably null |
Het |
| Pnpla1 |
A |
G |
17: 29,077,781 (GRCm39) |
|
probably benign |
Het |
| Pptc7 |
A |
T |
5: 122,446,192 (GRCm39) |
|
probably null |
Het |
| Psg26 |
G |
T |
7: 18,209,225 (GRCm39) |
S394R |
probably benign |
Het |
| Psmc1 |
C |
A |
12: 100,081,773 (GRCm39) |
T125K |
probably benign |
Het |
| Ptgis |
T |
A |
2: 167,067,203 (GRCm39) |
M125L |
probably benign |
Het |
| Rbms1 |
A |
G |
2: 60,589,165 (GRCm39) |
Y323H |
probably damaging |
Het |
| Rgl2 |
G |
A |
17: 34,151,529 (GRCm39) |
R191Q |
probably benign |
Het |
| Sirpb1a |
G |
A |
3: 15,476,503 (GRCm39) |
T98I |
possibly damaging |
Het |
| Sirpb1b |
C |
A |
3: 15,607,200 (GRCm39) |
E361* |
probably null |
Het |
| Slc13a4 |
A |
T |
6: 35,260,272 (GRCm39) |
|
probably null |
Het |
| Spag9 |
T |
C |
11: 94,002,909 (GRCm39) |
S1140P |
probably damaging |
Het |
| Spata31e4 |
T |
A |
13: 50,856,909 (GRCm39) |
I849N |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 40,469,084 (GRCm39) |
N305D |
probably damaging |
Het |
| Tenm2 |
G |
A |
11: 35,942,727 (GRCm39) |
A1314V |
probably benign |
Het |
| Tgm3 |
A |
G |
2: 129,866,324 (GRCm39) |
T81A |
probably benign |
Het |
| Timeless |
T |
C |
10: 128,085,399 (GRCm39) |
V839A |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,837,492 (GRCm39) |
I606T |
probably damaging |
Het |
| Tox |
T |
A |
4: 6,741,507 (GRCm39) |
M158L |
probably benign |
Het |
| Trpc2 |
A |
T |
7: 101,739,275 (GRCm39) |
M549L |
probably damaging |
Het |
| Trpm5 |
C |
T |
7: 142,635,572 (GRCm39) |
R600Q |
possibly damaging |
Het |
| Trpv1 |
A |
G |
11: 73,131,367 (GRCm39) |
N302D |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,681,940 (GRCm39) |
R1019H |
|
Het |
| Ttn |
G |
T |
2: 76,775,307 (GRCm39) |
H1958N |
unknown |
Het |
| Usp32 |
A |
T |
11: 84,917,938 (GRCm39) |
Y769* |
probably null |
Het |
| Vim |
A |
T |
2: 13,583,443 (GRCm39) |
Q255L |
possibly damaging |
Het |
| Vmn1r84 |
T |
C |
7: 12,095,994 (GRCm39) |
H233R |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,341,108 (GRCm39) |
H1116Q |
possibly damaging |
Het |
| Zc3h18 |
G |
T |
8: 123,134,993 (GRCm39) |
R580L |
unknown |
Het |
| Zfp267 |
T |
A |
3: 36,218,792 (GRCm39) |
F272I |
possibly damaging |
Het |
| Zfp442 |
A |
T |
2: 150,250,676 (GRCm39) |
C409S |
unknown |
Het |
| Zfy1 |
A |
T |
Y: 759,852 (GRCm39) |
I20K |
unknown |
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 |
|
|
R4909:Ktn1
|
UTSW |
14 |
47,943,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- ATGGAGCTGTACGAGTCAAC -3'
(R):5'- TCTTCAAGGCAGCTGCTTCG -3'
Sequencing Primer
(F):5'- ACGAGTCAACGTATTTTGTTGTCC -3'
(R):5'- CAGCTGCTTCGAGGGGTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation