Incidental Mutation 'IGL01017:Ktn1'
| ID | 53970 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
|---|
| Gene Symbol |
Ktn1
|
|---|
| Ensembl Gene |
ENSMUSG00000021843 |
|---|
| Gene Name | kinectin 1 |
|---|
| Synonyms | |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Non essential (E-score: 0.000)
|
|---|
| Stock # | IGL01017
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 14 |
|---|
| Chromosomal Location | 47648448-47739894 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to C
at 47708878 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Serine to Proline
at position 917
(S917P)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139946
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022391]
[ENSMUST00000185343]
[ENSMUST00000185940]
[ENSMUST00000186627]
[ENSMUST00000186761]
[ENSMUST00000187039]
[ENSMUST00000187262]
[ENSMUST00000187839]
[ENSMUST00000188330]
[ENSMUST00000188553]
[ENSMUST00000189101]
[ENSMUST00000189533]
[ENSMUST00000189986]
[ENSMUST00000190182]
[ENSMUST00000190252]
[ENSMUST00000190535]
[ENSMUST00000190999]
[ENSMUST00000191018]
[ENSMUST00000191446]
[ENSMUST00000191511]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022391
AA Change: S940P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000022391
Gene: ENSMUSG00000021843
AA Change: S940P
| 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
AA Change: S917P
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140186
Gene: ENSMUSG00000021843
AA Change: S917P
| 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
AA Change: S917P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139625
Gene: ENSMUSG00000021843
AA Change: S917P
| 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
AA Change: S917P
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140873
Gene: ENSMUSG00000021843
AA Change: S917P
| 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 benign
Transcript: ENSMUST00000186761
AA Change: S940P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139521
Gene: ENSMUSG00000021843
AA Change: S940P
| 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
AA Change: S917P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140202
Gene: ENSMUSG00000021843
AA Change: S917P
| 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
AA Change: S940P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140206
Gene: ENSMUSG00000021843
AA Change: S940P
| 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 |
probably benign
Transcript: ENSMUST00000187839
AA Change: S940P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140324
Gene: ENSMUSG00000021843
AA Change: S940P
| 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: ENSMUST00000188330
AA Change: S917P
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140845
Gene: ENSMUSG00000021843
AA Change: S917P
| 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 benign
Transcript: ENSMUST00000188553
AA Change: S917P
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140865
Gene: ENSMUSG00000021843
AA Change: S917P
| 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 benign
Transcript: ENSMUST00000189101
AA Change: S917P
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140178
Gene: ENSMUSG00000021843
AA Change: S917P
| 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: ENSMUST00000189533
AA Change: S917P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140142
Gene: ENSMUSG00000021843
AA Change: S917P
| 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 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 |
noncoding transcript
Transcript: ENSMUST00000190164
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190182
AA Change: S940P
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140301
Gene: ENSMUSG00000021843
AA Change: S940P
| 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 benign
Transcript: ENSMUST00000190252
AA Change: S940P
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140011
Gene: ENSMUSG00000021843
AA Change: S940P
| 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 benign
Transcript: ENSMUST00000190535
AA Change: S917P
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139952
Gene: ENSMUSG00000021843
AA Change: S917P
| 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 benign
Transcript: ENSMUST00000190999
AA Change: S917P
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139673
Gene: ENSMUSG00000021843
AA Change: S917P
| 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 benign
Transcript: ENSMUST00000191018
AA Change: S917P
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139585
Gene: ENSMUSG00000021843
AA Change: S917P
| 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: ENSMUST00000191446
AA Change: S940P
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140748
Gene: ENSMUSG00000021843
AA Change: S940P
| 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 benign
Transcript: ENSMUST00000191511
AA Change: S917P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139946
Gene: ENSMUSG00000021843
AA Change: S917P
| 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 |
|
|---|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
G |
A |
5: 88,459,359 |
A29T |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 122,894,728 |
K795R |
probably damaging |
Het |
| Atg3 |
T |
C |
16: 45,183,811 |
|
probably null |
Het |
| Ccdc169 |
T |
C |
3: 55,171,318 |
V200A |
possibly damaging |
Het |
| Cdr2l |
C |
A |
11: 115,392,738 |
Q141K |
probably damaging |
Het |
| Cts3 |
T |
A |
13: 61,568,174 |
I93F |
probably damaging |
Het |
| Eif2ak2 |
A |
G |
17: 78,863,858 |
L372S |
probably damaging |
Het |
| Elovl5 |
T |
C |
9: 77,981,571 |
I240T |
possibly damaging |
Het |
| Farp1 |
C |
T |
14: 121,272,774 |
A728V |
possibly damaging |
Het |
| Fbln1 |
A |
G |
15: 85,244,189 |
D529G |
possibly damaging |
Het |
| Flnb |
G |
T |
14: 7,917,390 |
|
probably benign |
Het |
| Gm14401 |
A |
T |
2: 177,086,832 |
H237L |
probably damaging |
Het |
| Gm4951 |
T |
A |
18: 60,245,436 |
D14E |
possibly damaging |
Het |
| Hivep3 |
T |
A |
4: 120,099,246 |
H1586Q |
probably damaging |
Het |
| Igkv12-98 |
T |
A |
6: 68,571,109 |
L74* |
probably null |
Het |
| Lama3 |
T |
C |
18: 12,441,143 |
|
probably null |
Het |
| Lamb1 |
A |
G |
12: 31,301,064 |
D723G |
possibly damaging |
Het |
| Lrrc39 |
A |
T |
3: 116,570,851 |
R130S |
probably benign |
Het |
| Mcm3 |
A |
C |
1: 20,804,815 |
|
probably null |
Het |
| Muc19 |
T |
G |
15: 91,880,707 |
|
noncoding transcript |
Het |
| Necap2 |
A |
G |
4: 141,067,568 |
F266S |
probably damaging |
Het |
| Nfil3 |
C |
T |
13: 52,968,019 |
G283D |
probably damaging |
Het |
| Nlrp4e |
A |
T |
7: 23,321,667 |
K526N |
possibly damaging |
Het |
| Olfr1178 |
T |
A |
2: 88,391,901 |
V218E |
possibly damaging |
Het |
| Olfr53 |
A |
G |
7: 140,652,476 |
T166A |
probably benign |
Het |
| Pelp1 |
G |
A |
11: 70,396,894 |
R401W |
probably damaging |
Het |
| Phldb3 |
G |
T |
7: 24,628,870 |
C613F |
probably damaging |
Het |
| Ppp1ca |
T |
C |
19: 4,193,111 |
Y93H |
probably damaging |
Het |
| Ppp1r3b |
A |
G |
8: 35,384,322 |
E105G |
probably benign |
Het |
| Prb1 |
G |
T |
6: 132,207,231 |
Q480K |
unknown |
Het |
| Ryr1 |
A |
T |
7: 29,082,543 |
I2007N |
probably damaging |
Het |
| Scgb1b27 |
A |
G |
7: 34,021,803 |
T39A |
probably damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,154,457 |
D359G |
probably benign |
Het |
| Sgo2b |
G |
T |
8: 63,926,523 |
R1092S |
probably benign |
Het |
| Sh3pxd2b |
C |
A |
11: 32,403,993 |
S187* |
probably null |
Het |
| Slc11a1 |
T |
A |
1: 74,379,796 |
L92H |
probably damaging |
Het |
| Smc3 |
T |
C |
19: 53,629,327 |
V585A |
probably damaging |
Het |
| Sp6 |
A |
G |
11: 97,022,603 |
|
probably benign |
Het |
| Spata16 |
A |
T |
3: 26,840,722 |
I307F |
possibly damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,359 |
H33L |
probably benign |
Het |
| Tnxb |
T |
A |
17: 34,693,808 |
D1642E |
probably damaging |
Het |
| Ttc1 |
T |
C |
11: 43,730,493 |
N287S |
probably damaging |
Het |
| Ttc9 |
G |
A |
12: 81,631,762 |
V120I |
possibly damaging |
Het |
| Umps |
A |
G |
16: 33,966,902 |
V27A |
probably damaging |
Het |
| Usp50 |
C |
A |
2: 126,709,414 |
M48I |
probably damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,930,382 |
C267S |
possibly damaging |
Het |
| Wee1 |
A |
T |
7: 110,125,848 |
D275V |
possibly damaging |
Het |
| Zmym6 |
C |
T |
4: 127,088,359 |
P63L |
probably benign |
Het |
|
|---|
| Other mutations in Ktn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Ktn1
|
APN |
14 |
47714721 |
missense |
probably damaging |
1.00 |
|
IGL02300:Ktn1
|
APN |
14 |
47690060 |
missense |
probably damaging |
1.00 |
|
IGL02339:Ktn1
|
APN |
14 |
47683378 |
splice site |
probably benign |
|
|
IGL02525:Ktn1
|
APN |
14 |
47724743 |
critical splice donor site |
probably null |
|
|
IGL02565:Ktn1
|
APN |
14 |
47672934 |
splice site |
probably benign |
|
|
IGL02678:Ktn1
|
APN |
14 |
47734153 |
critical splice acceptor site |
probably null |
|
|
IGL03181:Ktn1
|
APN |
14 |
47733284 |
missense |
probably benign |
0.19 |
|
IGL03393:Ktn1
|
APN |
14 |
47690934 |
missense |
probably damaging |
1.00 |
|
PIT4520001:Ktn1
|
UTSW |
14 |
47686317 |
missense |
probably damaging |
0.96 |
|
R0035:Ktn1
|
UTSW |
14 |
47730379 |
missense |
probably benign |
0.07 |
|
R0035:Ktn1
|
UTSW |
14 |
47730379 |
missense |
probably benign |
0.07 |
|
R0270:Ktn1
|
UTSW |
14 |
47714662 |
missense |
probably benign |
0.00 |
|
R0370:Ktn1
|
UTSW |
14 |
47664075 |
missense |
probably benign |
0.00 |
|
R0371:Ktn1
|
UTSW |
14 |
47724003 |
nonsense |
probably null |
|
|
R0530:Ktn1
|
UTSW |
14 |
47733243 |
missense |
probably benign |
0.14 |
|
R0531:Ktn1
|
UTSW |
14 |
47663941 |
missense |
probably damaging |
0.98 |
|
R0611:Ktn1
|
UTSW |
14 |
47694616 |
missense |
probably benign |
|
|
R0836:Ktn1
|
UTSW |
14 |
47701062 |
splice site |
probably null |
|
|
R1076:Ktn1
|
UTSW |
14 |
47694638 |
missense |
probably damaging |
0.99 |
|
R1522:Ktn1
|
UTSW |
14 |
47667416 |
missense |
probably damaging |
1.00 |
|
R1554:Ktn1
|
UTSW |
14 |
47695507 |
missense |
probably damaging |
1.00 |
|
R1992:Ktn1
|
UTSW |
14 |
47695521 |
missense |
probably damaging |
1.00 |
|
R2040:Ktn1
|
UTSW |
14 |
47700612 |
splice site |
probably benign |
|
|
R2080:Ktn1
|
UTSW |
14 |
47725960 |
missense |
probably damaging |
1.00 |
|
R2110:Ktn1
|
UTSW |
14 |
47693888 |
missense |
possibly damaging |
0.47 |
|
R2144:Ktn1
|
UTSW |
14 |
47714652 |
missense |
probably damaging |
1.00 |
|
R3730:Ktn1
|
UTSW |
14 |
47701149 |
missense |
probably damaging |
1.00 |
|
R3780:Ktn1
|
UTSW |
14 |
47706403 |
splice site |
probably benign |
|
|
R3782:Ktn1
|
UTSW |
14 |
47706403 |
splice site |
probably benign |
|
|
R4414:Ktn1
|
UTSW |
14 |
47724930 |
nonsense |
probably null |
|
|
R4610:Ktn1
|
UTSW |
14 |
47726179 |
intron |
probably benign |
|
|
R4784:Ktn1
|
UTSW |
14 |
47693496 |
critical splice donor site |
probably null |
|
|
R4838:Ktn1
|
UTSW |
14 |
47725956 |
nonsense |
probably null |
|
|
R4909:Ktn1
|
UTSW |
14 |
47706460 |
missense |
probably damaging |
0.99 |
|
R4976:Ktn1
|
UTSW |
14 |
47670299 |
critical splice donor site |
probably null |
|
|
R5110:Ktn1
|
UTSW |
14 |
47704287 |
splice site |
probably benign |
|
|
R5257:Ktn1
|
UTSW |
14 |
47667363 |
missense |
probably benign |
0.05 |
|
R5469:Ktn1
|
UTSW |
14 |
47690920 |
missense |
probably damaging |
1.00 |
|
R5600:Ktn1
|
UTSW |
14 |
47690033 |
missense |
probably damaging |
1.00 |
|
R5607:Ktn1
|
UTSW |
14 |
47734097 |
intron |
probably benign |
|
|
R5608:Ktn1
|
UTSW |
14 |
47734097 |
intron |
probably benign |
|
|
R5920:Ktn1
|
UTSW |
14 |
47724024 |
nonsense |
probably null |
|
|
R6045:Ktn1
|
UTSW |
14 |
47676796 |
missense |
probably damaging |
1.00 |
|
R6139:Ktn1
|
UTSW |
14 |
47726215 |
splice site |
probably null |
|
|
R6282:Ktn1
|
UTSW |
14 |
47663971 |
missense |
probably damaging |
1.00 |
|
R6654:Ktn1
|
UTSW |
14 |
47690000 |
missense |
probably damaging |
1.00 |
|
R6957:Ktn1
|
UTSW |
14 |
47667353 |
nonsense |
probably null |
|
|
R6959:Ktn1
|
UTSW |
14 |
47720256 |
missense |
probably damaging |
1.00 |
|
R7170:Ktn1
|
UTSW |
14 |
47706410 |
missense |
probably damaging |
1.00 |
|
R7206:Ktn1
|
UTSW |
14 |
47695528 |
missense |
probably damaging |
0.97 |
|
R7442:Ktn1
|
UTSW |
14 |
47714640 |
missense |
probably benign |
0.01 |
|
R7462:Ktn1
|
UTSW |
14 |
47694632 |
missense |
probably null |
1.00 |
|
R7513:Ktn1
|
UTSW |
14 |
47664084 |
missense |
possibly damaging |
0.77 |
|
R7743:Ktn1
|
UTSW |
14 |
47670293 |
missense |
probably damaging |
1.00 |
|
R8010:Ktn1
|
UTSW |
14 |
47705773 |
missense |
possibly damaging |
0.60 |
|
R8062:Ktn1
|
UTSW |
14 |
47724972 |
critical splice donor site |
probably null |
|
|
Z1177:Ktn1
|
UTSW |
14 |
47692438 |
critical splice acceptor site |
probably null |
|
|
|---|
| Posted On | 2013-06-28 |
|---|
