Incidental Mutation 'R7441:Krt81'
ID |
576983 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt81
|
Ensembl Gene |
ENSMUSG00000067615 |
Gene Name |
keratin 81 |
Synonyms |
Krt2-19 |
MMRRC Submission |
045517-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R7441 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
101356942-101361632 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 101359251 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 222
(K222N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061185]
|
AlphaFold |
Q9ERE2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061185
AA Change: K222N
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000056525 Gene: ENSMUSG00000067615 AA Change: K222N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
A |
C |
2: 151,314,845 (GRCm39) |
S278A |
possibly damaging |
Het |
Adamts20 |
T |
C |
15: 94,251,554 (GRCm39) |
D411G |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,871,987 (GRCm39) |
I894V |
possibly damaging |
Het |
Adprhl1 |
C |
T |
8: 13,273,069 (GRCm39) |
V1230I |
probably benign |
Het |
Agpat1 |
T |
A |
17: 34,829,883 (GRCm39) |
Y77N |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,477,392 (GRCm39) |
V725A |
possibly damaging |
Het |
Apc |
T |
A |
18: 34,445,126 (GRCm39) |
I674K |
probably damaging |
Het |
Arhgef2 |
A |
G |
3: 88,551,262 (GRCm39) |
R808G |
probably damaging |
Het |
Asap1 |
A |
G |
15: 64,002,105 (GRCm39) |
V402A |
probably damaging |
Het |
Aspg |
T |
C |
12: 112,091,255 (GRCm39) |
V479A |
possibly damaging |
Het |
B3galnt2 |
G |
A |
13: 14,169,070 (GRCm39) |
V368M |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,177,132 (GRCm39) |
S2007P |
probably damaging |
Het |
Cyfip2 |
A |
T |
11: 46,087,254 (GRCm39) |
I1212N |
possibly damaging |
Het |
Dnajc16 |
A |
T |
4: 141,491,124 (GRCm39) |
D675E |
probably damaging |
Het |
Dram2 |
T |
C |
3: 106,462,503 (GRCm39) |
F4L |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,379,425 (GRCm39) |
T2057A |
probably benign |
Het |
Dync1h1 |
T |
G |
12: 110,602,887 (GRCm39) |
L2176R |
probably damaging |
Het |
Efhb |
A |
T |
17: 53,708,549 (GRCm39) |
I707N |
possibly damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,302,377 (GRCm39) |
T1555A |
probably benign |
Het |
Erc1 |
G |
A |
6: 119,801,912 (GRCm39) |
T35I |
possibly damaging |
Het |
Esr2 |
C |
A |
12: 76,188,168 (GRCm39) |
M363I |
probably benign |
Het |
Etl4 |
A |
T |
2: 20,749,000 (GRCm39) |
N446I |
possibly damaging |
Het |
Evpl |
T |
A |
11: 116,113,782 (GRCm39) |
K1303* |
probably null |
Het |
Fam135b |
A |
T |
15: 71,335,529 (GRCm39) |
V555E |
probably damaging |
Het |
Fam186b |
A |
G |
15: 99,177,970 (GRCm39) |
L452P |
probably benign |
Het |
Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
Gcc2 |
A |
G |
10: 58,092,723 (GRCm39) |
T48A |
probably benign |
Het |
Gm6619 |
T |
G |
6: 131,467,354 (GRCm39) |
I73S |
possibly damaging |
Het |
Gm8267 |
T |
A |
14: 44,960,397 (GRCm39) |
D116V |
probably damaging |
Het |
Gtf3c3 |
G |
A |
1: 54,459,607 (GRCm39) |
T385M |
probably benign |
Het |
Iqgap2 |
C |
A |
13: 95,764,584 (GRCm39) |
M1553I |
probably benign |
Het |
Kcnk1 |
G |
T |
8: 126,722,307 (GRCm39) |
G37C |
probably damaging |
Het |
Kifc3 |
T |
C |
8: 95,864,615 (GRCm39) |
M32V |
probably benign |
Het |
Lrrc63 |
A |
G |
14: 75,363,697 (GRCm39) |
S145P |
possibly damaging |
Het |
Mybbp1a |
T |
A |
11: 72,342,101 (GRCm39) |
V1279E |
probably benign |
Het |
Niban3 |
A |
G |
8: 72,052,808 (GRCm39) |
D94G |
probably benign |
Het |
Or11g26 |
A |
T |
14: 50,752,853 (GRCm39) |
Y64F |
probably damaging |
Het |
Or8u9 |
T |
A |
2: 86,001,354 (GRCm39) |
D269V |
probably damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
A |
G |
4: 143,145,410 (GRCm39) |
Y293C |
probably benign |
Het |
Ptpn18 |
T |
C |
1: 34,512,416 (GRCm39) |
V407A |
probably benign |
Het |
Ptpn9 |
T |
A |
9: 56,934,717 (GRCm39) |
Y160* |
probably null |
Het |
Ptprj |
T |
C |
2: 90,280,163 (GRCm39) |
K1045R |
possibly damaging |
Het |
Rundc3a |
G |
T |
11: 102,290,872 (GRCm39) |
|
probably null |
Het |
Scn11a |
C |
T |
9: 119,587,692 (GRCm39) |
V1351I |
probably benign |
Het |
Slc26a9 |
A |
G |
1: 131,690,556 (GRCm39) |
Y520C |
probably damaging |
Het |
Spata20 |
G |
A |
11: 94,374,867 (GRCm39) |
A245V |
probably benign |
Het |
Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
Swt1 |
A |
T |
1: 151,286,815 (GRCm39) |
F226I |
probably benign |
Het |
Taar7f |
A |
G |
10: 23,925,885 (GRCm39) |
T160A |
possibly damaging |
Het |
Timd5 |
G |
A |
11: 46,419,382 (GRCm39) |
W66* |
probably null |
Het |
Upf2 |
A |
T |
2: 6,023,743 (GRCm39) |
I698F |
unknown |
Het |
Vmn2r84 |
T |
C |
10: 130,227,982 (GRCm39) |
T85A |
possibly damaging |
Het |
Zfp426 |
T |
C |
9: 20,382,147 (GRCm39) |
E280G |
possibly damaging |
Het |
Zfp810 |
C |
A |
9: 22,190,568 (GRCm39) |
E78* |
probably null |
Het |
Zfp937 |
GTGATAAGGCATTTGCACAAAACAGTCATCTCCTAACACATAAAAGAACACAT |
G |
2: 150,080,630 (GRCm39) |
|
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 |
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 |
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'- TTGACGACGATGGAGGTGTC -3'
(R):5'- CACCAAGCATGAGAGTCTCC -3'
Sequencing Primer
(F):5'- GTCAAAAACTTCTTGAAGGCTCAGC -3'
(R):5'- GAGTCTCCACAGAAAAGAGCTGC -3'
|
Posted On |
2019-10-07 |