Incidental Mutation 'R6282:Ktn1'
| ID | 508016 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Ktn1
|
|---|
| Ensembl Gene |
ENSMUSG00000021843 |
|---|
| Gene Name | kinectin 1 |
|---|
| Synonyms | |
|---|
| MMRRC Submission |
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Non essential (E-score: 0.000)
|
|---|
| Stock # | R6282 (G1)
|
|---|
| Quality Score | 225.009 |
|---|
| Status |
Validated
|
|---|
| Chromosome | 14 |
|---|
| Chromosomal Location | 47648448-47739894 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to T
at 47663971 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Asparagine to Isoleucine
at position 62
(N62I)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140301
(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]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022391
AA Change: N62I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000022391
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140186
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139625
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: ENSMUST00000186466
AA Change: N62I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140523
Gene: ENSMUSG00000021843
AA Change: N62I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rib_recp_KP_reg
|
29 |
173 |
9.6e-8 |
PFAM |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000186627
AA Change: N62I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140873
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139521
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140202
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140206
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140324
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140845
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140865
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140178
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140142
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: ENSMUST00000189986
AA Change: N62I
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139970
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140301
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140011
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139952
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139673
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139585
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000140748
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: N62I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139946
Gene: ENSMUSG00000021843
AA Change: N62I
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
|---|
| Validation Efficiency |
98% (45/46) |
|---|
| 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 |
|---|
| 1700001O22Rik |
A |
T |
2: 30,800,769 |
L185Q |
possibly damaging |
Het |
| Abca6 |
A |
T |
11: 110,208,824 |
C966S |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,434,004 |
I708N |
probably benign |
Het |
| Axin1 |
C |
G |
17: 26,143,037 |
D118E |
probably damaging |
Het |
| Bace2 |
A |
T |
16: 97,415,097 |
I297F |
probably damaging |
Het |
| C87499 |
T |
C |
4: 88,630,054 |
E38G |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,324,017 |
D649V |
probably damaging |
Het |
| Cd180 |
G |
A |
13: 102,693,757 |
A20T |
possibly damaging |
Het |
| Cdk18 |
T |
C |
1: 132,120,020 |
D112G |
probably damaging |
Het |
| Cuedc1 |
A |
G |
11: 88,183,402 |
N254S |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,503,601 |
H2470R |
probably damaging |
Het |
| Drap1 |
G |
A |
19: 5,424,436 |
|
probably null |
Het |
| Fam196b |
A |
G |
11: 34,402,819 |
D287G |
possibly damaging |
Het |
| Fbxo5 |
T |
A |
10: 5,801,216 |
K257M |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,772,555 |
R100C |
unknown |
Het |
| Gm12790 |
A |
G |
4: 101,967,516 |
V185A |
possibly damaging |
Het |
| Gm7361 |
A |
G |
5: 26,260,413 |
N136S |
probably benign |
Het |
| Il10ra |
C |
A |
9: 45,260,405 |
C255F |
probably damaging |
Het |
| Itgam |
A |
T |
7: 128,084,942 |
T340S |
probably benign |
Het |
| Ldb2 |
A |
G |
5: 44,532,665 |
L204P |
probably damaging |
Het |
| Map2k4 |
T |
C |
11: 65,707,016 |
T90A |
possibly damaging |
Het |
| Mettl3 |
A |
T |
14: 52,297,971 |
D287E |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,544,742 |
F278S |
probably damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,149,163 |
M609T |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,557,512 |
V929D |
probably damaging |
Het |
| Naprt |
A |
T |
15: 75,891,979 |
M364K |
probably benign |
Het |
| Nod2 |
T |
A |
8: 88,670,460 |
C833S |
probably benign |
Het |
| Nrip3 |
C |
T |
7: 109,763,479 |
|
probably null |
Het |
| Ntsr2 |
A |
G |
12: 16,658,425 |
Y320C |
probably damaging |
Het |
| Olfr1178 |
C |
A |
2: 88,391,533 |
C95* |
probably null |
Het |
| Olfr555 |
G |
A |
7: 102,659,647 |
M275I |
probably benign |
Het |
| Olfr761 |
G |
A |
17: 37,952,424 |
S200F |
possibly damaging |
Het |
| Osbpl3 |
A |
T |
6: 50,348,083 |
|
probably null |
Het |
| Pcdhb3 |
C |
T |
18: 37,301,646 |
R222C |
probably damaging |
Het |
| Pik3cd |
G |
T |
4: 149,659,743 |
R184S |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,669,770 |
|
probably null |
Het |
| Rad51ap2 |
A |
T |
12: 11,457,559 |
H494L |
probably benign |
Het |
| Rbm25 |
T |
C |
12: 83,676,089 |
M762T |
probably damaging |
Het |
| Sars |
G |
T |
3: 108,428,274 |
S338* |
probably null |
Het |
| Usp35 |
T |
C |
7: 97,325,948 |
E6G |
probably damaging |
Het |
| Vash2 |
T |
C |
1: 190,960,225 |
Y251C |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,559,051 |
N549S |
possibly damaging |
Het |
| Wdr20 |
T |
A |
12: 110,797,009 |
|
probably benign |
Het |
| Wfdc1 |
G |
A |
8: 119,679,407 |
C87Y |
probably damaging |
Het |
| Zfp985 |
T |
A |
4: 147,583,348 |
H224Q |
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 |
|
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 |
|
|
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 |
|
R8387:Ktn1
|
UTSW |
14 |
47707287 |
splice site |
probably null |
|
|
Z1177:Ktn1
|
UTSW |
14 |
47692438 |
critical splice acceptor site |
probably null |
|
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- ACGAGTCAACGTATTTTGTTGTCC -3'
(R):5'- CCTGGGATCTTTGATGCATCAC -3'
Sequencing Primer
(F):5'- AGTCAACGTATTTTGTTGTCCTCATC -3'
(R):5'- GATGACCTGCTCTTCAAGGG -3'
|
|---|
| Posted On | 2018-03-15 |
|---|
