Incidental Mutation 'PIT4508001:Krt81'
ID |
556244 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt81
|
Ensembl Gene |
ENSMUSG00000067615 |
Gene Name |
keratin 81 |
Synonyms |
Krt2-19 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
PIT4508001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
101356942-101361632 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 101360606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 127
(L127Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061185]
|
AlphaFold |
Q9ERE2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061185
AA Change: L127Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056525 Gene: ENSMUSG00000067615 AA Change: L127Q
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: 93.4%
- 3x: 90.7%
- 10x: 84.6%
- 20x: 71.6%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
T |
C |
16: 20,176,128 (GRCm39) |
T1228A |
probably damaging |
Het |
Actg2 |
A |
T |
6: 83,489,989 (GRCm39) |
I370N |
possibly damaging |
Het |
Ankrd36 |
A |
G |
11: 5,557,137 (GRCm39) |
T330A |
possibly damaging |
Het |
Atrip |
C |
T |
9: 108,903,057 (GRCm39) |
A6T |
possibly damaging |
Het |
Bms1 |
G |
A |
6: 118,360,767 (GRCm39) |
R1234C |
probably benign |
Het |
Cacnb2 |
A |
T |
2: 14,989,230 (GRCm39) |
T487S |
probably benign |
Het |
Cert1 |
T |
C |
13: 96,767,284 (GRCm39) |
F478S |
probably damaging |
Het |
Esco2 |
A |
T |
14: 66,068,914 (GRCm39) |
V132E |
probably damaging |
Het |
Gjb5 |
A |
T |
4: 127,250,033 (GRCm39) |
L37Q |
probably damaging |
Het |
Gm8020 |
T |
A |
14: 42,324,234 (GRCm39) |
Y24F |
|
Het |
H2bc8 |
CTCGACCATCACGTC |
CTC |
13: 23,755,867 (GRCm39) |
|
probably benign |
Het |
H2-Q6 |
T |
C |
17: 35,644,796 (GRCm39) |
L195P |
probably damaging |
Het |
Hc |
T |
C |
2: 34,874,816 (GRCm39) |
T1602A |
probably damaging |
Het |
Hcrtr2 |
A |
T |
9: 76,153,662 (GRCm39) |
Y243* |
probably null |
Het |
Itga3 |
T |
C |
11: 94,946,719 (GRCm39) |
H730R |
probably benign |
Het |
Kif1a |
A |
T |
1: 92,974,451 (GRCm39) |
L866Q |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,719,223 (GRCm39) |
I2262T |
probably damaging |
Het |
Mxd3 |
A |
T |
13: 55,473,707 (GRCm39) |
D170E |
probably benign |
Het |
Myh2 |
A |
G |
11: 67,076,331 (GRCm39) |
M811V |
probably benign |
Het |
Naa16 |
A |
T |
14: 79,606,527 (GRCm39) |
D335E |
probably benign |
Het |
Nkd1 |
A |
G |
8: 89,249,028 (GRCm39) |
T58A |
probably benign |
Het |
Ogfrl1 |
T |
A |
1: 23,409,351 (GRCm39) |
R292* |
probably null |
Het |
Or52e2 |
T |
A |
7: 102,804,520 (GRCm39) |
M145L |
probably benign |
Het |
Or5w13 |
G |
A |
2: 87,524,059 (GRCm39) |
H56Y |
probably damaging |
Het |
Pom121l12 |
A |
G |
11: 14,549,689 (GRCm39) |
R132G |
possibly damaging |
Het |
Prss46 |
A |
G |
9: 110,680,484 (GRCm39) |
K210E |
probably damaging |
Het |
Scn8a |
T |
C |
15: 100,927,573 (GRCm39) |
Y1351H |
probably damaging |
Het |
Shisa9 |
G |
A |
16: 12,085,344 (GRCm39) |
V318I |
probably benign |
Het |
Slc41a2 |
T |
G |
10: 83,090,744 (GRCm39) |
H480P |
probably damaging |
Het |
Slc45a1 |
C |
A |
4: 150,722,892 (GRCm39) |
A331S |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,784,764 (GRCm39) |
F885I |
unknown |
Het |
Speer4f1 |
T |
C |
5: 17,685,412 (GRCm39) |
S236P |
unknown |
Het |
Zfp326 |
A |
T |
5: 106,062,556 (GRCm39) |
Q475L |
probably benign |
Het |
Zzef1 |
T |
G |
11: 72,786,002 (GRCm39) |
V2058G |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGTGCATGGTTGAGCTC -3'
(R):5'- CTCCTGACTTGTTGGCTTCAGAG -3'
Sequencing Primer
(F):5'- GCATGGTTGAGCTCAGCAG -3'
(R):5'- ACAATGAAGTGTCCACCTGG -3'
|
Posted On |
2019-06-07 |