Incidental Mutation 'R2080:Ktn1'
| ID |
229437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ktn1
|
| Ensembl Gene |
ENSMUSG00000021843 |
| Gene Name |
kinectin 1 |
| Synonyms |
|
| MMRRC Submission |
040085-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
47886551-47974021 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47963417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1164
(E1164G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022391]
[ENSMUST00000185343]
[ENSMUST00000185940]
[ENSMUST00000186627]
[ENSMUST00000186761]
[ENSMUST00000187039]
[ENSMUST00000187262]
[ENSMUST00000190252]
[ENSMUST00000188553]
[ENSMUST00000190182]
[ENSMUST00000190535]
[ENSMUST00000190999]
[ENSMUST00000188330]
[ENSMUST00000189533]
[ENSMUST00000187839]
[ENSMUST00000191018]
[ENSMUST00000189101]
[ENSMUST00000189986]
[ENSMUST00000191511]
[ENSMUST00000191446]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022391
AA Change: E1164G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000022391
Gene: ENSMUSG00000021843
AA Change: E1164G
| 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 benign
Transcript: ENSMUST00000185343
|
| SMART Domains |
Protein: ENSMUSP00000140186
Gene: ENSMUSG00000021843
| 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 benign
Transcript: ENSMUST00000185940
|
| SMART Domains |
Protein: ENSMUSP00000139625
Gene: ENSMUSG00000021843
| 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 benign
Transcript: ENSMUST00000186627
|
| SMART Domains |
Protein: ENSMUSP00000140873
Gene: ENSMUSG00000021843
| 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 |
probably damaging
Transcript: ENSMUST00000186761
AA Change: E1135G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139521
Gene: ENSMUSG00000021843
AA Change: E1135G
| 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 benign
Transcript: ENSMUST00000187039
|
| SMART Domains |
Protein: ENSMUSP00000140202
Gene: ENSMUSG00000021843
| 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 benign
Transcript: ENSMUST00000187262
|
| SMART Domains |
Protein: ENSMUSP00000140206
Gene: ENSMUSG00000021843
| 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: ENSMUST00000190252
AA Change: E1135G
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140011
Gene: ENSMUSG00000021843
AA Change: E1135G
| 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: ENSMUST00000188553
AA Change: E1141G
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140865
Gene: ENSMUSG00000021843
AA Change: E1141G
| 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: ENSMUST00000190182
AA Change: E1135G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140301
Gene: ENSMUSG00000021843
AA Change: E1135G
| 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: ENSMUST00000190535
AA Change: E1141G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139952
Gene: ENSMUSG00000021843
AA Change: E1141G
| 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: ENSMUST00000190999
AA Change: E1112G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139673
Gene: ENSMUSG00000021843
AA Change: E1112G
| 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: ENSMUST00000188330
AA Change: E1112G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140845
Gene: ENSMUSG00000021843
AA Change: E1112G
| 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: ENSMUST00000189533
AA Change: E1112G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140142
Gene: ENSMUSG00000021843
AA Change: E1112G
| 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: ENSMUST00000187839
AA Change: E1164G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140324
Gene: ENSMUSG00000021843
AA Change: E1164G
| 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 |
noncoding transcript
Transcript: ENSMUST00000190857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188263
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191018
|
| SMART Domains |
Protein: ENSMUSP00000139585
Gene: ENSMUSG00000021843
| 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 benign
Transcript: ENSMUST00000189101
|
| SMART Domains |
Protein: ENSMUSP00000140178
Gene: ENSMUSG00000021843
| 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 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 benign
Transcript: ENSMUST00000191511
|
| SMART Domains |
Protein: ENSMUSP00000139946
Gene: ENSMUSG00000021843
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191446
|
| SMART Domains |
Protein: ENSMUSP00000140748
Gene: ENSMUSG00000021843
| 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 |
|
| Meta Mutation Damage Score |
0.1474 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (55/55) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,792 (GRCm39) |
D183V |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,716,064 (GRCm39) |
D858E |
probably damaging |
Het |
| Amdhd2 |
T |
C |
17: 24,375,578 (GRCm39) |
T370A |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,351,743 (GRCm39) |
W449R |
probably benign |
Het |
| Aox3 |
A |
T |
1: 58,225,439 (GRCm39) |
I1179F |
probably benign |
Het |
| Atp10a |
C |
A |
7: 58,474,075 (GRCm39) |
Q1121K |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,928,548 (GRCm39) |
A123V |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,282,598 (GRCm39) |
K16E |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,563,378 (GRCm39) |
D779N |
probably benign |
Het |
| Cyp2a4 |
G |
A |
7: 26,007,962 (GRCm39) |
R123Q |
possibly damaging |
Het |
| D430041D05Rik |
C |
T |
2: 103,987,161 (GRCm39) |
R1895Q |
probably damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,773,550 (GRCm39) |
T282S |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,787,692 (GRCm39) |
T948A |
probably benign |
Het |
| Ednrb |
A |
T |
14: 104,080,536 (GRCm39) |
I126N |
probably damaging |
Het |
| Egln1 |
A |
G |
8: 125,675,045 (GRCm39) |
M250T |
probably benign |
Het |
| Epb41l3 |
A |
T |
17: 69,560,463 (GRCm39) |
I337L |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 77,991,960 (GRCm39) |
I219T |
probably benign |
Het |
| Gm13030 |
T |
C |
4: 138,600,730 (GRCm39) |
|
probably benign |
Het |
| Gm1527 |
T |
A |
3: 28,980,810 (GRCm39) |
C637S |
probably benign |
Het |
| H1f1 |
A |
G |
13: 23,947,932 (GRCm39) |
N78S |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,721,598 (GRCm39) |
I1168T |
possibly damaging |
Het |
| Ireb2 |
T |
C |
9: 54,803,836 (GRCm39) |
V509A |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,559,715 (GRCm39) |
D981G |
probably damaging |
Het |
| L3hypdh |
A |
T |
12: 72,126,301 (GRCm39) |
V213E |
probably damaging |
Het |
| Masp1 |
T |
G |
16: 23,310,709 (GRCm39) |
D241A |
probably damaging |
Het |
| Mfsd13b |
A |
G |
7: 120,591,047 (GRCm39) |
I1V |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,423,491 (GRCm39) |
V4531A |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,065,767 (GRCm39) |
|
probably null |
Het |
| Naip5 |
A |
G |
13: 100,358,041 (GRCm39) |
L1065P |
probably damaging |
Het |
| Necab1 |
T |
C |
4: 15,140,219 (GRCm39) |
|
probably benign |
Het |
| Nemf |
A |
G |
12: 69,400,560 (GRCm39) |
|
probably benign |
Het |
| Nfil3 |
A |
T |
13: 53,122,069 (GRCm39) |
D278E |
possibly damaging |
Het |
| Nup98 |
T |
C |
7: 101,829,631 (GRCm39) |
N393S |
probably damaging |
Het |
| Ogdh |
T |
A |
11: 6,299,393 (GRCm39) |
M753K |
probably benign |
Het |
| Or13c3 |
T |
C |
4: 52,855,568 (GRCm39) |
Y315C |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,823,606 (GRCm39) |
V29E |
probably damaging |
Het |
| Or4k47 |
C |
T |
2: 111,452,084 (GRCm39) |
V112M |
probably benign |
Het |
| Or51f5 |
T |
C |
7: 102,424,450 (GRCm39) |
F240L |
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,342,378 (GRCm39) |
S267T |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,624,989 (GRCm39) |
K262E |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,715,457 (GRCm39) |
|
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,741,744 (GRCm39) |
M406K |
possibly damaging |
Het |
| Ptgs1 |
C |
T |
2: 36,132,859 (GRCm39) |
Q286* |
probably null |
Het |
| Scube2 |
T |
C |
7: 109,407,712 (GRCm39) |
T743A |
possibly damaging |
Het |
| Tipin |
T |
A |
9: 64,197,658 (GRCm39) |
L69* |
probably null |
Het |
| Tlk1 |
T |
A |
2: 70,568,789 (GRCm39) |
K404N |
probably damaging |
Het |
| Tmem59 |
C |
A |
4: 107,035,971 (GRCm39) |
L16I |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,612,826 (GRCm39) |
E426G |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,216,320 (GRCm39) |
S709T |
probably damaging |
Het |
| Yjefn3 |
T |
C |
8: 70,342,137 (GRCm39) |
N28D |
probably damaging |
Het |
| Zfp598 |
A |
C |
17: 24,898,641 (GRCm39) |
D480A |
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 |
|
|
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 |
|
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'- CTAGAGATGAATATGGCCCAACC -3'
(R):5'- GCTGTCAACACAACAAAGGG -3'
Sequencing Primer
(F):5'- CCACTTATAGACCGTGCCATG -3'
(R):5'- GCAGTTAAGCCATTTACATTTTCC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation