Incidental Mutation 'IGL02194:Krt15'
| ID |
284014 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt15
|
| Ensembl Gene |
ENSMUSG00000054146 |
| Gene Name |
keratin 15 |
| Synonyms |
Krt1-15, K15 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
IGL02194
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100022584-100026754 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 100022839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103034
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107411]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107411
|
| SMART Domains |
Protein: ENSMUSP00000103034
Gene: ENSMUSG00000054146
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
96 |
N/A |
INTRINSIC |
|
Filament
|
97 |
409 |
5.06e-173 |
SMART |
|
low complexity region
|
421 |
434 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148502
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region on chromosome 17q21.2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired esophageal epithelial regeneration with thicker epithelia due to enhanced basal cell proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,828,812 (GRCm39) |
Q230* |
probably null |
Het |
| Akap5 |
C |
T |
12: 76,374,807 (GRCm39) |
P80S |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 52,933,606 (GRCm39) |
M366K |
probably benign |
Het |
| Ankef1 |
T |
A |
2: 136,392,429 (GRCm39) |
D539E |
probably benign |
Het |
| Anxa11 |
A |
G |
14: 25,870,553 (GRCm39) |
D39G |
unknown |
Het |
| Atp13a4 |
G |
T |
16: 29,275,447 (GRCm39) |
H346N |
probably damaging |
Het |
| Btnl1 |
A |
C |
17: 34,598,509 (GRCm39) |
T42P |
possibly damaging |
Het |
| Cul3 |
T |
A |
1: 80,300,754 (GRCm39) |
Y29F |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,638,544 (GRCm39) |
|
probably benign |
Het |
| Det1 |
A |
T |
7: 78,489,912 (GRCm39) |
V371E |
probably benign |
Het |
| Duoxa2 |
C |
A |
2: 122,132,330 (GRCm39) |
A248D |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,885 (GRCm39) |
I806K |
probably benign |
Het |
| Fam76b |
G |
T |
9: 13,744,274 (GRCm39) |
G124W |
probably damaging |
Het |
| Fhl5 |
T |
C |
4: 25,211,341 (GRCm39) |
E117G |
probably benign |
Het |
| Ighv15-2 |
T |
C |
12: 114,528,341 (GRCm39) |
I70V |
probably damaging |
Het |
| Iqca1 |
T |
C |
1: 89,973,385 (GRCm39) |
T768A |
probably benign |
Het |
| Itih1 |
A |
C |
14: 30,652,322 (GRCm39) |
D786E |
probably benign |
Het |
| Lgals9 |
T |
A |
11: 78,857,746 (GRCm39) |
|
probably null |
Het |
| Map3k4 |
G |
T |
17: 12,467,882 (GRCm39) |
Q1051K |
probably benign |
Het |
| Map3k4 |
G |
T |
17: 12,482,815 (GRCm39) |
P634H |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,250,343 (GRCm39) |
D21G |
probably benign |
Het |
| Mre11a |
T |
C |
9: 14,726,505 (GRCm39) |
S423P |
possibly damaging |
Het |
| Mzf1 |
T |
A |
7: 12,777,647 (GRCm39) |
T665S |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,231 (GRCm39) |
Y59C |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,262 (GRCm39) |
I46N |
possibly damaging |
Het |
| Otx2 |
A |
T |
14: 48,898,850 (GRCm39) |
V52D |
possibly damaging |
Het |
| Rnf157 |
C |
T |
11: 116,237,858 (GRCm39) |
|
probably null |
Het |
| Ssxa1 |
T |
A |
X: 20,987,394 (GRCm39) |
I115N |
unknown |
Het |
| Ube2q2l |
T |
C |
6: 136,378,056 (GRCm39) |
Q258R |
probably benign |
Het |
|
| Other mutations in Krt15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02304:Krt15
|
APN |
11 |
100,024,503 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0361:Krt15
|
UTSW |
11 |
100,024,007 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1562:Krt15
|
UTSW |
11 |
100,024,007 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2113:Krt15
|
UTSW |
11 |
100,026,484 (GRCm39) |
missense |
unknown |
|
|
R4858:Krt15
|
UTSW |
11 |
100,022,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5185:Krt15
|
UTSW |
11 |
100,024,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6967:Krt15
|
UTSW |
11 |
100,025,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7294:Krt15
|
UTSW |
11 |
100,022,848 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7371:Krt15
|
UTSW |
11 |
100,026,386 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7372:Krt15
|
UTSW |
11 |
100,026,386 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7389:Krt15
|
UTSW |
11 |
100,026,386 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7390:Krt15
|
UTSW |
11 |
100,026,386 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7391:Krt15
|
UTSW |
11 |
100,026,386 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7392:Krt15
|
UTSW |
11 |
100,026,386 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7420:Krt15
|
UTSW |
11 |
100,026,386 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7421:Krt15
|
UTSW |
11 |
100,026,386 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7423:Krt15
|
UTSW |
11 |
100,026,386 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7424:Krt15
|
UTSW |
11 |
100,026,386 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9405:Krt15
|
UTSW |
11 |
100,022,961 (GRCm39) |
missense |
probably benign |
0.37 |
|
X0025:Krt15
|
UTSW |
11 |
100,026,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation