Incidental Mutation 'R5903:Krt81'
| ID |
456469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt81
|
| Ensembl Gene |
ENSMUSG00000067615 |
| Gene Name |
keratin 81 |
| Synonyms |
Krt2-19 |
| MMRRC Submission |
044101-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R5903 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101459061-101463751 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 101460202 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 390
(Q390P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061185]
|
| AlphaFold |
Q9ERE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061185
AA Change: Q390P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: Q390P
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.8%
|
| Validation Efficiency |
98% (58/59) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
A |
G |
5: 65,988,318 (GRCm38) |
V150A |
unknown |
Het |
| Abraxas1 |
T |
C |
5: 100,817,958 (GRCm38) |
|
probably null |
Het |
| Actl7a |
G |
T |
4: 56,743,827 (GRCm38) |
R118L |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,639,359 (GRCm38) |
D1449G |
possibly damaging |
Het |
| Atg7 |
G |
A |
6: 114,706,293 (GRCm38) |
W439* |
probably null |
Het |
| Atp6v0a2 |
T |
A |
5: 124,712,279 (GRCm38) |
I370N |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,807,760 (GRCm38) |
D347G |
probably damaging |
Het |
| Baz2b |
C |
T |
2: 59,959,889 (GRCm38) |
C660Y |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,930,542 (GRCm38) |
Y1390C |
probably damaging |
Het |
| Cdcp1 |
G |
A |
9: 123,173,772 (GRCm38) |
Q745* |
probably null |
Het |
| Cep97 |
G |
A |
16: 55,919,526 (GRCm38) |
S185L |
probably damaging |
Het |
| Clec4d |
A |
G |
6: 123,267,061 (GRCm38) |
H43R |
probably damaging |
Het |
| Cntn3 |
T |
A |
6: 102,242,133 (GRCm38) |
M509L |
probably benign |
Het |
| Cntrob |
A |
C |
11: 69,309,375 (GRCm38) |
S564R |
possibly damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,507,277 (GRCm38) |
N37I |
possibly damaging |
Het |
| Edc4 |
A |
G |
8: 105,890,587 (GRCm38) |
T1029A |
probably benign |
Het |
| Fam160b2 |
A |
T |
14: 70,591,681 (GRCm38) |
V64E |
probably damaging |
Het |
| Fmnl1 |
G |
T |
11: 103,171,444 (GRCm38) |
|
probably null |
Het |
| Fzd6 |
T |
A |
15: 39,007,388 (GRCm38) |
M1K |
probably null |
Het |
| Gle1 |
C |
A |
2: 29,940,281 (GRCm38) |
T283N |
probably benign |
Het |
| Hsd17b14 |
T |
C |
7: 45,565,962 (GRCm38) |
V161A |
probably damaging |
Het |
| Hsf2 |
T |
C |
10: 57,504,723 (GRCm38) |
S218P |
probably benign |
Het |
| Ipo7 |
T |
A |
7: 110,050,813 (GRCm38) |
C736S |
probably damaging |
Het |
| Itpkb |
G |
T |
1: 180,413,975 (GRCm38) |
V737L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,489,797 (GRCm38) |
|
probably benign |
Het |
| Kcnh8 |
G |
T |
17: 52,803,336 (GRCm38) |
V192L |
possibly damaging |
Het |
| Kctd10 |
G |
A |
5: 114,380,462 (GRCm38) |
|
probably benign |
Het |
| Kdm3a |
C |
A |
6: 71,632,250 (GRCm38) |
|
probably benign |
Het |
| Kif5a |
T |
A |
10: 127,230,578 (GRCm38) |
M990L |
probably benign |
Het |
| Klf12 |
A |
G |
14: 100,022,688 (GRCm38) |
S202P |
probably damaging |
Het |
| Lrig3 |
T |
C |
10: 126,008,478 (GRCm38) |
S604P |
probably damaging |
Het |
| Ms4a1 |
A |
T |
19: 11,258,248 (GRCm38) |
V48D |
probably damaging |
Het |
| Mta1 |
C |
T |
12: 113,136,619 (GRCm38) |
P688L |
probably damaging |
Het |
| Oas1h |
T |
C |
5: 120,870,977 (GRCm38) |
V250A |
probably damaging |
Het |
| Olfr618 |
G |
T |
7: 103,597,921 (GRCm38) |
G202* |
probably null |
Het |
| Olfr95 |
A |
T |
17: 37,211,021 (GRCm38) |
Y277* |
probably null |
Het |
| P2rx3 |
T |
C |
2: 85,000,727 (GRCm38) |
E265G |
possibly damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,345,286 (GRCm38) |
I101T |
possibly damaging |
Het |
| Psme4 |
A |
T |
11: 30,841,589 (GRCm38) |
N1148I |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,421,369 (GRCm38) |
L874P |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,751,239 (GRCm38) |
Y508C |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,970,133 (GRCm38) |
|
probably benign |
Het |
| Slc9b1 |
C |
T |
3: 135,392,894 (GRCm38) |
|
probably benign |
Het |
| Stmn3 |
T |
C |
2: 181,308,780 (GRCm38) |
K78E |
possibly damaging |
Het |
| Thsd4 |
T |
A |
9: 60,394,106 (GRCm38) |
N302I |
possibly damaging |
Het |
| Trdv5 |
A |
T |
14: 54,148,785 (GRCm38) |
H74Q |
probably benign |
Het |
| Tubb4b |
C |
T |
2: 25,223,981 (GRCm38) |
R77H |
probably benign |
Het |
| Ugt1a6a |
C |
T |
1: 88,215,123 (GRCm38) |
P113L |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 54,999,690 (GRCm38) |
C438S |
possibly damaging |
Het |
| Zan |
C |
A |
5: 137,442,134 (GRCm38) |
C1946F |
unknown |
Het |
|
| Other mutations in Krt81 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Krt81
|
APN |
15 |
101,460,278 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01012:Krt81
|
APN |
15 |
101,461,019 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL01287:Krt81
|
APN |
15 |
101,463,388 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01304:Krt81
|
APN |
15 |
101,463,388 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01319:Krt81
|
APN |
15 |
101,463,388 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01403:Krt81
|
APN |
15 |
101,463,388 (GRCm38) |
missense |
probably benign |
0.00 |
|
PIT4508001:Krt81
|
UTSW |
15 |
101,462,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0083:Krt81
|
UTSW |
15 |
101,463,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0097:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0099:Krt81
|
UTSW |
15 |
101,463,521 (GRCm38) |
nonsense |
probably null |
|
|
R0110:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0112:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0196:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0449:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0450:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0482:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0510:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0511:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0512:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0514:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0533:Krt81
|
UTSW |
15 |
101,461,389 (GRCm38) |
missense |
probably benign |
0.42 |
|
R0639:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0674:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0692:Krt81
|
UTSW |
15 |
101,460,172 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0737:Krt81
|
UTSW |
15 |
101,463,627 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1458:Krt81
|
UTSW |
15 |
101,460,317 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1824:Krt81
|
UTSW |
15 |
101,460,139 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1991:Krt81
|
UTSW |
15 |
101,462,554 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2338:Krt81
|
UTSW |
15 |
101,463,336 (GRCm38) |
missense |
probably benign |
0.25 |
|
R4169:Krt81
|
UTSW |
15 |
101,461,312 (GRCm38) |
missense |
probably benign |
|
|
R4170:Krt81
|
UTSW |
15 |
101,461,312 (GRCm38) |
missense |
probably benign |
|
|
R5267:Krt81
|
UTSW |
15 |
101,459,459 (GRCm38) |
missense |
probably benign |
|
|
R6306:Krt81
|
UTSW |
15 |
101,459,523 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7055:Krt81
|
UTSW |
15 |
101,461,125 (GRCm38) |
missense |
probably benign |
0.43 |
|
R7069:Krt81
|
UTSW |
15 |
101,460,728 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7191:Krt81
|
UTSW |
15 |
101,460,229 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7441:Krt81
|
UTSW |
15 |
101,461,370 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7727:Krt81
|
UTSW |
15 |
101,459,567 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7728:Krt81
|
UTSW |
15 |
101,460,206 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7733:Krt81
|
UTSW |
15 |
101,463,514 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8460:Krt81
|
UTSW |
15 |
101,463,612 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9324:Krt81
|
UTSW |
15 |
101,463,454 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9597:Krt81
|
UTSW |
15 |
101,461,038 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9638:Krt81
|
UTSW |
15 |
101,460,975 (GRCm38) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTCAAAGGGACCAATGG -3'
(R):5'- TTGGGAAAGATTGGATAGCATGCTG -3'
Sequencing Primer
(F):5'- ATGGAAGATTTGCCCTCCAG -3'
(R):5'- AGGGACCCTTGGCTATCTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation