Incidental Mutation 'R5469:Ktn1'
| ID | 433423 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Ktn1
|
|---|
| Ensembl Gene |
ENSMUSG00000021843 |
|---|
| Gene Name | kinectin 1 |
|---|
| Synonyms | |
|---|
| MMRRC Submission |
043030-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Non essential (E-score: 0.000)
|
|---|
| Stock # | R5469 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 14 |
|---|
| Chromosomal Location | 47648448-47739894 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to T
at 47690920 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 579
(E579D)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140865
(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 damaging
Transcript: ENSMUST00000022391
AA Change: E579D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000022391
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: E579D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140186
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: E579D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139625
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: E579D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140873
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: E579D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139521
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: E579D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140202
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: ENSMUST00000187262
AA Change: E579D
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140206
Gene: ENSMUSG00000021843
AA Change: E579D
| 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 damaging
Transcript: ENSMUST00000187839
AA Change: E579D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140324
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: ENSMUST00000188330
AA Change: E579D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140845
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: ENSMUST00000188553
AA Change: E579D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140865
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: ENSMUST00000189101
AA Change: E579D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140178
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: ENSMUST00000189533
AA Change: E579D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140142
Gene: ENSMUSG00000021843
AA Change: E579D
| 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 |
probably damaging
Transcript: ENSMUST00000190182
AA Change: E579D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140301
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: ENSMUST00000190252
AA Change: E579D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140011
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: ENSMUST00000190535
AA Change: E579D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139952
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: E579D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139673
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: ENSMUST00000191018
AA Change: E579D
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139585
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: ENSMUST00000191446
AA Change: E579D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140748
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: ENSMUST00000191511
AA Change: E579D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139946
Gene: ENSMUSG00000021843
AA Change: E579D
| 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: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
|---|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Allc |
A |
T |
12: 28,555,306 |
N331K |
probably benign |
Het |
| Anapc1 |
G |
T |
2: 128,675,701 |
S341* |
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,443,937 |
E1339G |
probably damaging |
Het |
| Cacna2d1 |
T |
A |
5: 16,352,678 |
I702N |
probably damaging |
Het |
| Casp2 |
C |
A |
6: 42,269,334 |
H209N |
probably benign |
Het |
| Casr |
A |
G |
16: 36,510,030 |
V314A |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,201,353 |
R294* |
probably null |
Het |
| Cd180 |
T |
A |
13: 102,704,834 |
H129Q |
probably benign |
Het |
| Chst10 |
A |
T |
1: 38,865,527 |
Y362N |
probably damaging |
Het |
| Ctnna1 |
T |
A |
18: 35,239,520 |
D509E |
probably benign |
Het |
| Ctsh |
G |
T |
9: 90,060,511 |
|
probably null |
Het |
| Dhx29 |
C |
T |
13: 112,944,539 |
A369V |
possibly damaging |
Het |
| Enox1 |
A |
G |
14: 77,592,974 |
T340A |
probably benign |
Het |
| Fam135b |
T |
A |
15: 71,446,043 |
T1357S |
probably benign |
Het |
| Flt3 |
A |
T |
5: 147,355,083 |
S544T |
possibly damaging |
Het |
| Gm12689 |
T |
C |
4: 99,296,165 |
I85T |
unknown |
Het |
| Gsap |
A |
T |
5: 21,290,544 |
Y831F |
possibly damaging |
Het |
| Hnrnpr |
C |
T |
4: 136,319,434 |
T142M |
probably damaging |
Het |
| Jak3 |
A |
G |
8: 71,678,773 |
D94G |
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,041,189 |
P2247S |
possibly damaging |
Het |
| Lrba |
C |
T |
3: 86,542,641 |
S2089F |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,429,338 |
V2292M |
unknown |
Het |
| Mphosph10 |
A |
T |
7: 64,389,445 |
|
probably null |
Het |
| Pappa |
C |
T |
4: 65,205,152 |
T908M |
probably benign |
Het |
| Pdcd10 |
T |
A |
3: 75,521,057 |
K150* |
probably null |
Het |
| Piezo2 |
A |
T |
18: 63,027,864 |
I2275N |
probably damaging |
Het |
| Pmvk |
T |
C |
3: 89,467,682 |
|
probably null |
Het |
| Pold2 |
G |
A |
11: 5,873,048 |
P376S |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,891,965 |
Q759L |
probably damaging |
Het |
| Rad51ap1 |
C |
T |
6: 126,928,227 |
S107N |
probably damaging |
Het |
| Rfk |
T |
A |
19: 17,395,202 |
N29K |
probably damaging |
Het |
| Ror2 |
T |
C |
13: 53,117,339 |
M315V |
probably benign |
Het |
| Rrn3 |
A |
G |
16: 13,813,100 |
E600G |
probably benign |
Het |
| Ryk |
A |
G |
9: 102,906,954 |
Y593C |
possibly damaging |
Het |
| Slc30a3 |
T |
A |
5: 31,088,660 |
D193V |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,610,026 |
P10L |
probably benign |
Het |
| Srbd1 |
C |
A |
17: 86,119,942 |
C421F |
possibly damaging |
Het |
| Sstr5 |
A |
C |
17: 25,492,069 |
V62G |
probably damaging |
Het |
| Tfip11 |
G |
A |
5: 112,334,325 |
W483* |
probably null |
Het |
| Tlk1 |
T |
C |
2: 70,721,668 |
H553R |
probably benign |
Het |
| Tnc |
T |
C |
4: 64,013,925 |
|
probably null |
Het |
| Trav12-1 |
A |
G |
14: 53,538,473 |
T27A |
probably damaging |
Het |
| Usp9y |
G |
A |
Y: 1,364,714 |
T1033I |
probably benign |
Het |
| V1ra8 |
C |
T |
6: 90,203,204 |
H130Y |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,802,063 |
M386L |
probably benign |
Het |
|
|---|
| Other mutations in Ktn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Ktn1
|
APN |
14 |
47708878 |
missense |
probably benign |
0.30 |
|
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 |
|
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 |
|
|
R8244:Ktn1
|
UTSW |
14 |
47674823 |
missense |
probably null |
1.00 |
|
Z1177:Ktn1
|
UTSW |
14 |
47692438 |
critical splice acceptor site |
probably null |
|
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCATCCACTTCCTTAGGAC -3'
(R):5'- AACTGACTCATTGACTAGTCTCCC -3'
Sequencing Primer
(F):5'- GACAGTAAACCAGCCTTGATGTCTG -3'
(R):5'- AGTCTCCCAACTACTGAAGTTTGG -3'
|
|---|
| Posted On | 2016-10-06 |
|---|
