Incidental Mutation 'R7191:Krt81'
| ID |
559616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt81
|
| Ensembl Gene |
ENSMUSG00000067615 |
| Gene Name |
keratin 81 |
| Synonyms |
Krt2-19 |
| MMRRC Submission |
045274-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R7191 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101356942-101361632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101358110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 381
(D381G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061185]
|
| AlphaFold |
Q9ERE2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061185
AA Change: D381G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056525
Gene: ENSMUSG00000067615
AA Change: D381G
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (52/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
T |
A |
16: 21,472,314 (GRCm39) |
I129F |
probably benign |
Het |
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,740,041 (GRCm39) |
T1948S |
unknown |
Het |
| Arap1 |
T |
C |
7: 101,034,199 (GRCm39) |
C214R |
probably benign |
Het |
| Ccdc82 |
C |
T |
9: 13,252,097 (GRCm39) |
Q130* |
probably null |
Het |
| Cfh |
A |
C |
1: 140,040,305 (GRCm39) |
V597G |
probably benign |
Het |
| Clp1 |
A |
T |
2: 84,554,490 (GRCm39) |
C226* |
probably null |
Het |
| Cyp39a1 |
G |
A |
17: 44,041,910 (GRCm39) |
W372* |
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,414,646 (GRCm39) |
P799S |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,646,250 (GRCm39) |
N167I |
unknown |
Het |
| Dock10 |
A |
G |
1: 80,518,048 (GRCm39) |
S1310P |
possibly damaging |
Het |
| Fam83h |
C |
T |
15: 75,874,886 (GRCm39) |
G817D |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,762,771 (GRCm39) |
T758A |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
| Gcg |
C |
G |
2: 62,307,183 (GRCm39) |
G126A |
probably damaging |
Het |
| Get1 |
A |
G |
16: 95,953,145 (GRCm39) |
I79V |
possibly damaging |
Het |
| Gne |
T |
C |
4: 44,040,266 (GRCm39) |
K633E |
probably benign |
Het |
| Gpr4 |
T |
C |
7: 18,957,155 (GRCm39) |
V359A |
probably benign |
Het |
| Gprc5c |
C |
T |
11: 114,759,443 (GRCm39) |
T422M |
possibly damaging |
Het |
| Gria2 |
C |
A |
3: 80,639,392 (GRCm39) |
V207L |
probably benign |
Het |
| Hid1 |
T |
C |
11: 115,239,295 (GRCm39) |
*789W |
probably null |
Het |
| Iigp1c |
A |
T |
18: 60,379,329 (GRCm39) |
D288V |
probably benign |
Het |
| Jakmip3 |
G |
A |
7: 138,591,257 (GRCm39) |
|
probably null |
Het |
| Kin |
G |
A |
2: 10,096,604 (GRCm39) |
R151Q |
probably benign |
Het |
| Krt16 |
T |
C |
11: 100,137,484 (GRCm39) |
E407G |
probably damaging |
Het |
| Lrrc34 |
C |
T |
3: 30,679,027 (GRCm39) |
G357S |
possibly damaging |
Het |
| Lypd11 |
C |
T |
7: 24,422,759 (GRCm39) |
V105I |
possibly damaging |
Het |
| Mipol1 |
A |
G |
12: 57,503,852 (GRCm39) |
Q340R |
probably benign |
Het |
| Mpzl3 |
T |
G |
9: 44,966,542 (GRCm39) |
M1R |
probably null |
Het |
| Nrcam |
A |
G |
12: 44,619,027 (GRCm39) |
N852S |
probably benign |
Het |
| Nudcd2 |
C |
T |
11: 40,627,430 (GRCm39) |
Q117* |
probably null |
Het |
| Nup35 |
A |
T |
2: 80,488,723 (GRCm39) |
E320V |
probably damaging |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or5p56 |
G |
A |
7: 107,589,853 (GRCm39) |
V94M |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,628,943 (GRCm39) |
H668R |
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,028,782 (GRCm39) |
D333V |
probably benign |
Het |
| Rdh16 |
A |
G |
10: 127,649,287 (GRCm39) |
K248E |
probably benign |
Het |
| Samd4b |
C |
A |
7: 28,113,686 (GRCm39) |
G93V |
probably benign |
Het |
| Scgn |
A |
G |
13: 24,165,476 (GRCm39) |
I78T |
probably benign |
Het |
| Slfn14 |
T |
C |
11: 83,167,575 (GRCm39) |
I647V |
probably benign |
Het |
| Smyd5 |
T |
C |
6: 85,417,093 (GRCm39) |
V157A |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,708,113 (GRCm39) |
M951T |
probably benign |
Het |
| Tas2r105 |
T |
C |
6: 131,663,945 (GRCm39) |
N161S |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,443,316 (GRCm39) |
F581L |
probably damaging |
Het |
| Traip |
A |
G |
9: 107,847,216 (GRCm39) |
N352D |
probably benign |
Het |
| Trim29 |
A |
G |
9: 43,222,906 (GRCm39) |
Y245C |
probably damaging |
Het |
| Trpv4 |
T |
C |
5: 114,771,201 (GRCm39) |
I443V |
probably benign |
Het |
| Usp36 |
C |
T |
11: 118,159,660 (GRCm39) |
E595K |
probably benign |
Het |
| Vmn2r51 |
T |
A |
7: 9,834,480 (GRCm39) |
Y186F |
probably null |
Het |
| Vmn2r97 |
A |
G |
17: 19,150,548 (GRCm39) |
Y465C |
probably damaging |
Het |
| Zfp277 |
A |
T |
12: 40,379,561 (GRCm39) |
H324Q |
probably damaging |
Het |
| Zfp987 |
A |
G |
4: 146,058,473 (GRCm39) |
D17G |
probably damaging |
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 |
|
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'- GGAAGATTTGCCCTCCAGAG -3'
(R):5'- GCAAGAGGCTGCTTCTAGAATG -3'
Sequencing Primer
(F):5'- CCAGAGTCTGGCTGTTGGC -3'
(R):5'- AGGCTGCTTCTAGAATGTTCCTGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation