Incidental Mutation 'R0692:Krt81'
ID |
63385 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt81
|
Ensembl Gene |
ENSMUSG00000067615 |
Gene Name |
keratin 81 |
Synonyms |
Krt2-19 |
MMRRC Submission |
038877-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R0692 (G1)
|
Quality Score |
173 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
101356942-101361632 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101358053 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 400
(D400G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061185]
|
AlphaFold |
Q9ERE2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061185
AA Change: D400G
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000056525 Gene: ENSMUSG00000067615 AA Change: D400G
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: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
T |
A |
19: 53,205,383 (GRCm39) |
D44E |
probably damaging |
Het |
Bpifb5 |
T |
C |
2: 154,076,616 (GRCm39) |
V421A |
probably benign |
Het |
Clk4 |
C |
T |
11: 51,172,155 (GRCm39) |
R273* |
probably null |
Het |
Cmya5 |
A |
T |
13: 93,230,357 (GRCm39) |
L1577* |
probably null |
Het |
Col14a1 |
G |
C |
15: 55,205,134 (GRCm39) |
G88A |
unknown |
Het |
Helz2 |
A |
G |
2: 180,882,674 (GRCm39) |
C40R |
probably benign |
Het |
Kcng1 |
T |
A |
2: 168,104,683 (GRCm39) |
I388F |
probably damaging |
Het |
Krt35 |
T |
C |
11: 99,983,896 (GRCm39) |
E368G |
possibly damaging |
Het |
Mcm3ap |
T |
C |
10: 76,319,003 (GRCm39) |
C744R |
probably damaging |
Het |
Or5m3b |
A |
G |
2: 85,872,516 (GRCm39) |
M286V |
probably benign |
Het |
Pde6c |
A |
T |
19: 38,168,698 (GRCm39) |
Y788F |
probably damaging |
Het |
Plxnc1 |
A |
G |
10: 94,673,362 (GRCm39) |
|
probably null |
Het |
Rflnb |
T |
C |
11: 75,918,279 (GRCm39) |
D62G |
probably benign |
Het |
Sema4f |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
6: 82,916,511 (GRCm39) |
|
probably benign |
Het |
Slc12a1 |
T |
A |
2: 125,036,082 (GRCm39) |
Y651* |
probably null |
Het |
Srbd1 |
T |
C |
17: 86,443,888 (GRCm39) |
T113A |
probably benign |
Het |
Svopl |
A |
T |
6: 37,994,131 (GRCm39) |
L300Q |
probably damaging |
Het |
Trim41 |
C |
T |
11: 48,699,077 (GRCm39) |
|
probably null |
Het |
Vmn1r23 |
C |
A |
6: 57,903,110 (GRCm39) |
E223* |
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 |
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'- CCAATGTAGTAGCAAACAGTGCCCC -3'
(R):5'- CTCAGGCTGACCCATGTGAACAAG -3'
Sequencing Primer
(F):5'- AGAATTTTCCCTCAACAGTTGGTC -3'
(R):5'- AGGGACCCTTGGCTATCTCC -3'
|
Posted On |
2013-07-30 |