Incidental Mutation 'IGL02532:Krt13'
| ID |
297345 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt13
|
| Ensembl Gene |
ENSMUSG00000044041 |
| Gene Name |
keratin 13 |
| Synonyms |
Krt1-13, K13, Krt-1.13 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL02532
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100008153-100012392 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100010195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 262
(L262Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007275]
|
| AlphaFold |
P08730 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007275
AA Change: L262Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007275
Gene: ENSMUSG00000044041
AA Change: L262Q
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
5 |
21 |
1.02e-5 |
PROSPERO |
|
internal_repeat_1
|
16 |
32 |
1.02e-5 |
PROSPERO |
|
low complexity region
|
39 |
94 |
N/A |
INTRINSIC |
|
Filament
|
95 |
407 |
7.21e-169 |
SMART |
|
low complexity region
|
409 |
430 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128934
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134282
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: 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. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002D01Rik |
T |
C |
7: 28,947,645 (GRCm39) |
K15E |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,325,148 (GRCm39) |
T381A |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,094,737 (GRCm39) |
N554K |
probably benign |
Het |
| Adcy5 |
A |
G |
16: 35,092,453 (GRCm39) |
I605V |
possibly damaging |
Het |
| Arhgap11a |
G |
T |
2: 113,664,021 (GRCm39) |
S754* |
probably null |
Het |
| Arhgef28 |
T |
A |
13: 98,166,391 (GRCm39) |
D319V |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,474,327 (GRCm39) |
D2410G |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,419,063 (GRCm39) |
|
probably null |
Het |
| Catip |
A |
G |
1: 74,403,775 (GRCm39) |
N189S |
probably damaging |
Het |
| Cd177 |
T |
C |
7: 24,444,674 (GRCm39) |
K636E |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,380,927 (GRCm39) |
T145A |
probably benign |
Het |
| Cthrc1 |
T |
C |
15: 38,940,560 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fas |
C |
A |
19: 34,293,999 (GRCm39) |
T118N |
probably damaging |
Het |
| Fgd3 |
G |
A |
13: 49,439,237 (GRCm39) |
A253V |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,161,277 (GRCm39) |
|
probably benign |
Het |
| Fubp3 |
T |
C |
2: 31,490,571 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
T |
A |
3: 80,614,306 (GRCm39) |
E578V |
probably damaging |
Het |
| Gtpbp1 |
T |
A |
15: 79,604,278 (GRCm39) |
V662E |
probably benign |
Het |
| Hbb-bt |
T |
C |
7: 103,463,081 (GRCm39) |
|
probably benign |
Het |
| Ighv6-5 |
T |
A |
12: 114,380,424 (GRCm39) |
D50V |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,524,010 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,181,216 (GRCm39) |
N141D |
probably damaging |
Het |
| Kbtbd8 |
A |
G |
6: 95,103,517 (GRCm39) |
T389A |
probably benign |
Het |
| Klhl6 |
C |
A |
16: 19,775,832 (GRCm39) |
R242L |
possibly damaging |
Het |
| Kmt2b |
T |
C |
7: 30,286,314 (GRCm39) |
|
probably benign |
Het |
| Lingo2 |
T |
C |
4: 35,709,171 (GRCm39) |
K270E |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,577,788 (GRCm39) |
S297P |
probably benign |
Het |
| Ndufs1 |
G |
A |
1: 63,209,298 (GRCm39) |
R22C |
probably damaging |
Het |
| Nlrp5 |
T |
A |
7: 23,109,398 (GRCm39) |
S115T |
possibly damaging |
Het |
| Nup50l |
A |
C |
6: 96,141,771 (GRCm39) |
S424R |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,406,209 (GRCm39) |
R153S |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,187,944 (GRCm39) |
I3455F |
probably damaging |
Het |
| Psme1 |
T |
A |
14: 55,818,595 (GRCm39) |
Y223* |
probably null |
Het |
| R3hdm1 |
T |
C |
1: 128,124,836 (GRCm39) |
|
probably null |
Het |
| Rnf103 |
A |
G |
6: 71,486,809 (GRCm39) |
D480G |
probably benign |
Het |
| Rnf103 |
T |
G |
6: 71,486,636 (GRCm39) |
S422R |
probably damaging |
Het |
| Rps6ka2 |
T |
C |
17: 7,523,365 (GRCm39) |
V213A |
probably damaging |
Het |
| Sort1 |
G |
T |
3: 108,233,036 (GRCm39) |
K203N |
probably benign |
Het |
| Sugp1 |
A |
T |
8: 70,512,469 (GRCm39) |
K239N |
possibly damaging |
Het |
| Sult2a8 |
C |
T |
7: 14,150,183 (GRCm39) |
R176K |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,320,291 (GRCm39) |
N888K |
probably damaging |
Het |
| Vmn1r4 |
A |
C |
6: 56,934,135 (GRCm39) |
H213P |
possibly damaging |
Het |
| Wdr45b |
G |
T |
11: 121,219,639 (GRCm39) |
T303K |
probably benign |
Het |
|
| Other mutations in Krt13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01780:Krt13
|
APN |
11 |
100,010,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02934:Krt13
|
APN |
11 |
100,009,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4651001:Krt13
|
UTSW |
11 |
100,010,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0092:Krt13
|
UTSW |
11 |
100,012,258 (GRCm39) |
nonsense |
probably null |
|
|
R0722:Krt13
|
UTSW |
11 |
100,009,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1228:Krt13
|
UTSW |
11 |
100,012,303 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1400:Krt13
|
UTSW |
11 |
100,012,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Krt13
|
UTSW |
11 |
100,011,926 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1767:Krt13
|
UTSW |
11 |
100,011,926 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2420:Krt13
|
UTSW |
11 |
100,010,877 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2421:Krt13
|
UTSW |
11 |
100,010,877 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2869:Krt13
|
UTSW |
11 |
100,008,475 (GRCm39) |
missense |
unknown |
|
|
R2869:Krt13
|
UTSW |
11 |
100,008,475 (GRCm39) |
missense |
unknown |
|
|
R4421:Krt13
|
UTSW |
11 |
100,009,761 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4451:Krt13
|
UTSW |
11 |
100,008,827 (GRCm39) |
missense |
unknown |
|
|
R4520:Krt13
|
UTSW |
11 |
100,010,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4632:Krt13
|
UTSW |
11 |
100,012,050 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4656:Krt13
|
UTSW |
11 |
100,010,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Krt13
|
UTSW |
11 |
100,012,332 (GRCm39) |
start gained |
probably benign |
|
|
R5709:Krt13
|
UTSW |
11 |
100,008,469 (GRCm39) |
missense |
unknown |
|
|
R6014:Krt13
|
UTSW |
11 |
100,008,437 (GRCm39) |
missense |
unknown |
|
|
R6323:Krt13
|
UTSW |
11 |
100,011,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6391:Krt13
|
UTSW |
11 |
100,010,202 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7535:Krt13
|
UTSW |
11 |
100,008,824 (GRCm39) |
missense |
unknown |
|
|
R7562:Krt13
|
UTSW |
11 |
100,010,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Krt13
|
UTSW |
11 |
100,012,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7992:Krt13
|
UTSW |
11 |
100,008,478 (GRCm39) |
missense |
unknown |
|
|
R8379:Krt13
|
UTSW |
11 |
100,009,706 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8429:Krt13
|
UTSW |
11 |
100,011,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8560:Krt13
|
UTSW |
11 |
100,009,676 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8728:Krt13
|
UTSW |
11 |
100,012,318 (GRCm39) |
missense |
probably null |
0.73 |
|
R8879:Krt13
|
UTSW |
11 |
100,010,211 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8973:Krt13
|
UTSW |
11 |
100,010,264 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9610:Krt13
|
UTSW |
11 |
100,012,318 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9611:Krt13
|
UTSW |
11 |
100,012,318 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9746:Krt13
|
UTSW |
11 |
100,011,987 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0013:Krt13
|
UTSW |
11 |
100,010,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation