Incidental Mutation 'R0533:Krt81'
| ID |
49346 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt81
|
| Ensembl Gene |
ENSMUSG00000067615 |
| Gene Name |
keratin 81 |
| Synonyms |
Krt2-19 |
| MMRRC Submission |
038725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R0533 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101356942-101361632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101359270 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 216
(D216G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061185]
|
| AlphaFold |
Q9ERE2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061185
AA Change: D216G
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: D216G
| 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
|
| Meta Mutation Damage Score |
0.5587 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
| Validation Efficiency |
100% (57/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
G |
8: 60,984,797 (GRCm39) |
|
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,914,113 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,391,592 (GRCm39) |
N1283S |
probably benign |
Het |
| Adgrb1 |
T |
A |
15: 74,413,408 (GRCm39) |
W531R |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,410,653 (GRCm39) |
V246A |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,021,863 (GRCm39) |
D242E |
probably damaging |
Het |
| Arpp21 |
A |
G |
9: 111,955,573 (GRCm39) |
V522A |
probably benign |
Het |
| Atg4b |
T |
A |
1: 93,712,632 (GRCm39) |
|
probably benign |
Het |
| Capn12 |
T |
C |
7: 28,587,108 (GRCm39) |
F359S |
possibly damaging |
Het |
| Ccdc88c |
A |
T |
12: 100,920,541 (GRCm39) |
I360N |
probably damaging |
Het |
| Clic3 |
A |
G |
2: 25,348,150 (GRCm39) |
Y99C |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,336,713 (GRCm39) |
E925G |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,852,314 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
G |
11: 118,001,363 (GRCm39) |
V860A |
possibly damaging |
Het |
| Etv5 |
C |
T |
16: 22,254,825 (GRCm39) |
|
probably benign |
Het |
| Fam83a |
T |
A |
15: 57,873,207 (GRCm39) |
N345K |
probably benign |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gpm6a |
A |
G |
8: 55,508,409 (GRCm39) |
|
probably null |
Het |
| Grid1 |
T |
A |
14: 35,031,342 (GRCm39) |
Y312N |
possibly damaging |
Het |
| Gstm4 |
T |
C |
3: 107,950,841 (GRCm39) |
N51S |
probably benign |
Het |
| Hid1 |
A |
T |
11: 115,239,635 (GRCm39) |
I765N |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,600,816 (GRCm39) |
V518A |
unknown |
Het |
| Itgb6 |
A |
G |
2: 60,499,541 (GRCm39) |
V84A |
probably benign |
Het |
| Kbtbd4 |
A |
G |
2: 90,737,948 (GRCm39) |
K233E |
probably benign |
Het |
| Kif15 |
A |
T |
9: 122,838,498 (GRCm39) |
|
probably benign |
Het |
| Klre1 |
T |
C |
6: 129,560,156 (GRCm39) |
S143P |
probably damaging |
Het |
| Mctp2 |
G |
T |
7: 71,730,570 (GRCm39) |
H868Q |
probably benign |
Het |
| Morc2b |
G |
C |
17: 33,354,906 (GRCm39) |
Y955* |
probably null |
Het |
| Myog |
A |
C |
1: 134,218,211 (GRCm39) |
N140H |
possibly damaging |
Het |
| Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Neil3 |
A |
T |
8: 54,091,810 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
T |
C |
8: 32,321,273 (GRCm39) |
|
probably null |
Het |
| Or1o4 |
A |
T |
17: 37,591,182 (GRCm39) |
L43* |
probably null |
Het |
| Or56a3b |
G |
A |
7: 104,771,557 (GRCm39) |
V298I |
probably benign |
Het |
| Or56b35 |
A |
T |
7: 104,963,579 (GRCm39) |
M123L |
probably benign |
Het |
| Pramel16 |
A |
T |
4: 143,677,290 (GRCm39) |
D96E |
possibly damaging |
Het |
| Pramel23 |
G |
T |
4: 143,424,590 (GRCm39) |
C284* |
probably null |
Het |
| Ptger2 |
T |
A |
14: 45,226,439 (GRCm39) |
N6K |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,778,205 (GRCm39) |
E2097V |
probably damaging |
Het |
| Sel1l |
A |
T |
12: 91,786,868 (GRCm39) |
F397Y |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,685,064 (GRCm39) |
V551A |
unknown |
Het |
| Slc39a12 |
A |
G |
2: 14,405,142 (GRCm39) |
T245A |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,308,438 (GRCm39) |
V706I |
probably benign |
Het |
| Tbc1d8 |
G |
T |
1: 39,411,855 (GRCm39) |
Q994K |
possibly damaging |
Het |
| Tnrc6b |
C |
T |
15: 80,760,854 (GRCm39) |
T187I |
probably benign |
Het |
| Ttll6 |
G |
A |
11: 96,045,582 (GRCm39) |
A600T |
probably benign |
Het |
| Ust |
T |
C |
10: 8,123,844 (GRCm39) |
|
probably benign |
Het |
| Vmn2r71 |
GT |
GTT |
7: 85,268,426 (GRCm39) |
|
probably null |
Het |
| Vstm2a |
C |
T |
11: 16,213,041 (GRCm39) |
A142V |
probably damaging |
Het |
| Wfs1 |
T |
A |
5: 37,131,066 (GRCm39) |
|
probably benign |
Het |
| Wrap73 |
G |
A |
4: 154,236,106 (GRCm39) |
G145D |
probably damaging |
Het |
| Wrap73 |
G |
A |
4: 154,240,611 (GRCm39) |
V368M |
possibly damaging |
Het |
| Xrra1 |
T |
A |
7: 99,524,352 (GRCm39) |
|
probably null |
Het |
| Zfhx2 |
C |
T |
14: 55,301,547 (GRCm39) |
V2146I |
probably benign |
Het |
| Zfp335 |
A |
T |
2: 164,749,842 (GRCm39) |
L185* |
probably null |
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 |
|
IGL01304: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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGACACAGTCCATGTTCAGGTCC -3'
(R):5'- GAGAGTCTCCACAGAAAAGAGCTGC -3'
Sequencing Primer
(F):5'- TCTTGAAGGCTCAGCCTAAC -3'
(R):5'- CAGAAAAGAGCTGCCAAGTGC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation