Incidental Mutation 'IGL01304:Krt81'
ID |
278262 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krt81
|
Ensembl Gene |
ENSMUSG00000067615 |
Gene Name |
keratin 81 |
Synonyms |
Krt2-19 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
IGL01304
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101356942-101361632 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 101361269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 104
(H104Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061185]
|
AlphaFold |
Q9ERE2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061185
AA Change: H104Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000056525 Gene: ENSMUSG00000067615 AA Change: H104Y
Domain | Start | End | E-Value | Type |
Pfam:Keratin_2_head
|
2 |
102 |
5.6e-15 |
PFAM |
Filament
|
105 |
416 |
6.92e-148 |
SMART |
low complexity region
|
424 |
438 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230541
|
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. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB3 and KRTHB6, is found primarily in the hair cortex. Mutations in this gene and KRTHB6 have been observed in patients with a rare dominant hair disease, monilethrix. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
T |
19: 57,204,153 (GRCm39) |
D79E |
probably benign |
Het |
Aplf |
A |
C |
6: 87,618,882 (GRCm39) |
S421A |
possibly damaging |
Het |
Arnt |
T |
G |
3: 95,355,696 (GRCm39) |
D13E |
probably damaging |
Het |
Asap1 |
T |
C |
15: 64,184,298 (GRCm39) |
E45G |
probably damaging |
Het |
C2cd2l |
T |
C |
9: 44,230,884 (GRCm39) |
N101S |
probably damaging |
Het |
Cby2 |
T |
A |
14: 75,830,085 (GRCm39) |
D36V |
possibly damaging |
Het |
Chmp7 |
G |
A |
14: 69,956,062 (GRCm39) |
P402L |
probably benign |
Het |
Cir1 |
A |
T |
2: 73,118,068 (GRCm39) |
|
probably null |
Het |
Clock |
A |
G |
5: 76,414,202 (GRCm39) |
|
probably null |
Het |
Col18a1 |
T |
G |
10: 76,911,975 (GRCm39) |
|
probably benign |
Het |
Csf2ra |
G |
A |
19: 61,215,271 (GRCm39) |
H115Y |
possibly damaging |
Het |
Cspg5 |
T |
A |
9: 110,085,236 (GRCm39) |
L469H |
probably damaging |
Het |
Dapk2 |
T |
C |
9: 66,139,139 (GRCm39) |
|
probably benign |
Het |
F13a1 |
T |
C |
13: 37,172,852 (GRCm39) |
D176G |
probably benign |
Het |
Fbn2 |
T |
C |
18: 58,194,817 (GRCm39) |
E1448G |
probably damaging |
Het |
Gtf2b |
C |
T |
3: 142,487,359 (GRCm39) |
S265L |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,498,675 (GRCm39) |
G4068D |
probably damaging |
Het |
Ksr1 |
T |
C |
11: 78,918,468 (GRCm39) |
Q562R |
probably damaging |
Het |
Lrif1 |
C |
T |
3: 106,639,049 (GRCm39) |
P20S |
probably damaging |
Het |
Mamdc4 |
T |
C |
2: 25,453,588 (GRCm39) |
T1194A |
possibly damaging |
Het |
Med18 |
C |
A |
4: 132,186,930 (GRCm39) |
A190S |
probably damaging |
Het |
Mia2 |
G |
A |
12: 59,151,324 (GRCm39) |
E105K |
probably damaging |
Het |
Mnt |
T |
A |
11: 74,733,011 (GRCm39) |
Y48N |
probably damaging |
Het |
Mpp4 |
A |
C |
1: 59,188,678 (GRCm39) |
|
probably null |
Het |
Or4b1b |
G |
A |
2: 90,112,425 (GRCm39) |
P165S |
possibly damaging |
Het |
Popdc3 |
T |
G |
10: 45,194,005 (GRCm39) |
S269A |
probably benign |
Het |
Ppp6r3 |
A |
T |
19: 3,517,261 (GRCm39) |
M662K |
probably damaging |
Het |
Qser1 |
C |
A |
2: 104,617,976 (GRCm39) |
Q945H |
probably damaging |
Het |
Rad52 |
A |
G |
6: 119,895,594 (GRCm39) |
E198G |
probably damaging |
Het |
Ranbp17 |
A |
G |
11: 33,216,147 (GRCm39) |
V867A |
possibly damaging |
Het |
Rdh16 |
G |
T |
10: 127,649,365 (GRCm39) |
A274S |
probably benign |
Het |
Slco1a5 |
G |
T |
6: 142,187,876 (GRCm39) |
Q488K |
probably benign |
Het |
Snai2 |
T |
C |
16: 14,524,635 (GRCm39) |
I47T |
probably benign |
Het |
Snw1 |
T |
C |
12: 87,500,685 (GRCm39) |
D358G |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,404,841 (GRCm39) |
F2878L |
probably benign |
Het |
Spg11 |
T |
C |
2: 121,902,771 (GRCm39) |
Y1386C |
probably damaging |
Het |
Tgfb2 |
A |
C |
1: 186,357,670 (GRCm39) |
I435S |
probably damaging |
Het |
Ttc9b |
G |
A |
7: 27,355,410 (GRCm39) |
D227N |
probably benign |
Het |
Txndc2 |
T |
C |
17: 65,945,448 (GRCm39) |
E243G |
possibly damaging |
Het |
Usp28 |
A |
G |
9: 48,938,119 (GRCm39) |
D563G |
probably damaging |
Het |
Vmn1r77 |
T |
C |
7: 11,775,962 (GRCm39) |
V178A |
probably damaging |
Het |
Zfp316 |
A |
G |
5: 143,240,181 (GRCm39) |
F613L |
probably benign |
Het |
Zfp870 |
A |
T |
17: 33,101,980 (GRCm39) |
C450S |
possibly damaging |
Het |
|
Other mutations in Krt81 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00742:Krt81
|
APN |
15 |
101,358,159 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01012:Krt81
|
APN |
15 |
101,358,900 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01287:Krt81
|
APN |
15 |
101,361,269 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01319:Krt81
|
APN |
15 |
101,361,269 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01403:Krt81
|
APN |
15 |
101,361,269 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4508001:Krt81
|
UTSW |
15 |
101,360,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R0083:Krt81
|
UTSW |
15 |
101,361,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R0097:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0099:Krt81
|
UTSW |
15 |
101,361,402 (GRCm39) |
nonsense |
probably null |
|
R0110:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0112:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0196:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0449:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0450:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0482:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0510:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0511:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0512:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0514:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0533:Krt81
|
UTSW |
15 |
101,359,270 (GRCm39) |
missense |
probably benign |
0.42 |
R0639:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0674:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0692:Krt81
|
UTSW |
15 |
101,358,053 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0737:Krt81
|
UTSW |
15 |
101,361,508 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1458:Krt81
|
UTSW |
15 |
101,358,198 (GRCm39) |
missense |
probably benign |
0.34 |
R1824:Krt81
|
UTSW |
15 |
101,358,020 (GRCm39) |
missense |
probably damaging |
0.98 |
R1991:Krt81
|
UTSW |
15 |
101,360,435 (GRCm39) |
missense |
probably benign |
0.01 |
R2338:Krt81
|
UTSW |
15 |
101,361,217 (GRCm39) |
missense |
probably benign |
0.25 |
R4169:Krt81
|
UTSW |
15 |
101,359,193 (GRCm39) |
missense |
probably benign |
|
R4170:Krt81
|
UTSW |
15 |
101,359,193 (GRCm39) |
missense |
probably benign |
|
R5267:Krt81
|
UTSW |
15 |
101,357,340 (GRCm39) |
missense |
probably benign |
|
R5903:Krt81
|
UTSW |
15 |
101,358,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R6306:Krt81
|
UTSW |
15 |
101,357,404 (GRCm39) |
missense |
probably benign |
0.01 |
R7055:Krt81
|
UTSW |
15 |
101,359,006 (GRCm39) |
missense |
probably benign |
0.43 |
R7069:Krt81
|
UTSW |
15 |
101,358,609 (GRCm39) |
missense |
possibly damaging |
0.75 |
R7191:Krt81
|
UTSW |
15 |
101,358,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R7441:Krt81
|
UTSW |
15 |
101,359,251 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7727:Krt81
|
UTSW |
15 |
101,357,448 (GRCm39) |
missense |
probably damaging |
1.00 |
R7728:Krt81
|
UTSW |
15 |
101,358,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R7733:Krt81
|
UTSW |
15 |
101,361,395 (GRCm39) |
missense |
probably damaging |
0.96 |
R8460:Krt81
|
UTSW |
15 |
101,361,493 (GRCm39) |
missense |
probably damaging |
0.98 |
R9324:Krt81
|
UTSW |
15 |
101,361,335 (GRCm39) |
missense |
probably damaging |
0.99 |
R9597:Krt81
|
UTSW |
15 |
101,358,919 (GRCm39) |
missense |
probably benign |
0.06 |
R9638:Krt81
|
UTSW |
15 |
101,358,856 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2015-04-16 |