Incidental Mutation 'R4169:Krt81'
ID |
320716 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt81
|
Ensembl Gene |
ENSMUSG00000067615 |
Gene Name |
keratin 81 |
Synonyms |
Krt2-19 |
MMRRC Submission |
041010-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.096)
|
Stock # |
R4169 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101356942-101361632 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 101359193 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 242
(M242L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061185]
|
AlphaFold |
Q9ERE2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061185
AA Change: M242L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000056525 Gene: ENSMUSG00000067615 AA Change: M242L
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
98% (48/49) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot7 |
T |
C |
4: 152,302,250 (GRCm39) |
C121R |
probably damaging |
Het |
Ampd1 |
T |
A |
3: 103,002,157 (GRCm39) |
M546K |
probably damaging |
Het |
Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
Btn1a1 |
A |
G |
13: 23,649,325 (GRCm39) |
L9P |
probably benign |
Het |
Cmip |
A |
T |
8: 118,183,656 (GRCm39) |
N743I |
probably damaging |
Het |
Col4a2 |
C |
T |
8: 11,479,391 (GRCm39) |
P758L |
probably benign |
Het |
Ddx50 |
A |
T |
10: 62,476,549 (GRCm39) |
Y241* |
probably null |
Het |
Elk3 |
A |
G |
10: 93,101,197 (GRCm39) |
|
probably null |
Het |
Fbn1 |
T |
C |
2: 125,205,872 (GRCm39) |
T1042A |
possibly damaging |
Het |
Gm5445 |
A |
G |
13: 12,393,527 (GRCm39) |
|
noncoding transcript |
Het |
Gnat3 |
T |
C |
5: 18,208,862 (GRCm39) |
F189L |
probably damaging |
Het |
Hectd1 |
T |
C |
12: 51,837,008 (GRCm39) |
T815A |
probably damaging |
Het |
Hmcn1 |
A |
C |
1: 150,471,750 (GRCm39) |
|
probably null |
Het |
Hrc |
A |
G |
7: 44,986,181 (GRCm39) |
D444G |
probably benign |
Het |
Ighv1-53 |
T |
A |
12: 115,122,166 (GRCm39) |
I70F |
possibly damaging |
Het |
Kat7 |
A |
G |
11: 95,171,298 (GRCm39) |
F469L |
probably damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Krtap6-1 |
A |
G |
16: 88,828,584 (GRCm39) |
|
probably null |
Het |
Man2c1 |
A |
G |
9: 57,045,310 (GRCm39) |
D473G |
probably benign |
Het |
Mthfr-ps1 |
T |
C |
5: 78,622,436 (GRCm39) |
|
noncoding transcript |
Het |
Nop53 |
A |
T |
7: 15,676,244 (GRCm39) |
W152R |
probably benign |
Het |
Or5p58 |
A |
T |
7: 107,694,591 (GRCm39) |
M62K |
probably damaging |
Het |
Or6y1 |
T |
A |
1: 174,277,162 (GRCm39) |
S324R |
unknown |
Het |
Or8s8 |
A |
G |
15: 98,354,878 (GRCm39) |
E229G |
probably benign |
Het |
Pcdh1 |
A |
T |
18: 38,331,358 (GRCm39) |
N548K |
probably damaging |
Het |
Pcdhga12 |
A |
G |
18: 37,899,467 (GRCm39) |
I100V |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,183,675 (GRCm39) |
H1743R |
probably benign |
Het |
Pkdrej |
A |
G |
15: 85,700,515 (GRCm39) |
V1807A |
probably benign |
Het |
Rabl2 |
T |
C |
15: 89,474,582 (GRCm39) |
M1V |
probably null |
Het |
Rexo5 |
A |
G |
7: 119,426,621 (GRCm39) |
|
probably benign |
Het |
Rfng |
C |
G |
11: 120,674,772 (GRCm39) |
G73R |
probably benign |
Het |
Rps6ka4 |
A |
G |
19: 6,809,188 (GRCm39) |
L459P |
possibly damaging |
Het |
Samd11 |
T |
A |
4: 156,332,203 (GRCm39) |
D536V |
probably damaging |
Het |
Slc9a5 |
A |
G |
8: 106,084,032 (GRCm39) |
T451A |
possibly damaging |
Het |
Snapc1 |
T |
A |
12: 74,029,265 (GRCm39) |
N349K |
probably benign |
Het |
Sox1ot |
A |
G |
8: 12,480,544 (GRCm39) |
|
noncoding transcript |
Het |
Tmem178 |
C |
T |
17: 81,252,232 (GRCm39) |
H39Y |
possibly damaging |
Het |
Trav8n-2 |
A |
T |
14: 53,583,875 (GRCm39) |
T111S |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,703,103 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,762,909 (GRCm39) |
D3250G |
probably damaging |
Het |
Ube2nl |
T |
A |
7: 61,199,380 (GRCm39) |
|
noncoding transcript |
Het |
Vps25 |
T |
C |
11: 101,144,918 (GRCm39) |
S39P |
probably damaging |
Het |
Zkscan14 |
G |
A |
5: 145,132,985 (GRCm39) |
T182I |
possibly 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 |
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'- TTGACGACGATGGAGGTGTC -3'
(R):5'- AGACGATTTGCACATACAATCACTG -3'
Sequencing Primer
(F):5'- AATGGAGGATGCGGGTCTCC -3'
(R):5'- TTTGCACATACAATCACTGGGATCC -3'
|
Posted On |
2015-06-12 |