Incidental Mutation 'IGL02529:Krt82'
ID |
297244 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krt82
|
Ensembl Gene |
ENSMUSG00000049548 |
Gene Name |
keratin 82 |
Synonyms |
Krt2-20 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
IGL02529
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101449651-101459094 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 101458831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 70
(R70*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023713]
[ENSMUST00000023714]
|
AlphaFold |
Q99M74 |
Predicted Effect |
probably null
Transcript: ENSMUST00000023713
AA Change: R70*
|
SMART Domains |
Protein: ENSMUSP00000023713 Gene: ENSMUSG00000049548 AA Change: R70*
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
57 |
N/A |
INTRINSIC |
Pfam:Keratin_2_head
|
61 |
114 |
6.1e-13 |
PFAM |
Filament
|
117 |
428 |
1.32e-153 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000023714
|
SMART Domains |
Protein: ENSMUSP00000023714 Gene: ENSMUSG00000048699
Domain | Start | End | E-Value | Type |
Pfam:Keratin_2_head
|
16 |
139 |
3.1e-24 |
PFAM |
Filament
|
142 |
453 |
1.05e-179 |
SMART |
low complexity region
|
465 |
522 |
N/A |
INTRINSIC |
low complexity region
|
527 |
535 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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 keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,383,190 (GRCm39) |
H925L |
probably benign |
Het |
Agpat5 |
T |
A |
8: 18,931,770 (GRCm39) |
Y297N |
possibly damaging |
Het |
Apobec3 |
C |
T |
15: 79,781,888 (GRCm39) |
|
probably benign |
Het |
Atpaf1 |
C |
A |
4: 115,648,466 (GRCm39) |
A161E |
probably damaging |
Het |
Bnc1 |
A |
T |
7: 81,627,116 (GRCm39) |
D91E |
probably damaging |
Het |
Capg |
G |
A |
6: 72,532,829 (GRCm39) |
V98I |
probably benign |
Het |
Ccdc7b |
C |
T |
8: 129,904,706 (GRCm39) |
L115F |
possibly damaging |
Het |
Ces2a |
T |
A |
8: 105,463,851 (GRCm39) |
|
probably benign |
Het |
Cldn6 |
T |
G |
17: 23,900,291 (GRCm39) |
V85G |
probably damaging |
Het |
Clec2e |
T |
C |
6: 129,075,459 (GRCm39) |
|
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dhx38 |
T |
C |
8: 110,285,645 (GRCm39) |
E396G |
probably benign |
Het |
Dock8 |
A |
T |
19: 25,078,290 (GRCm39) |
K532* |
probably null |
Het |
Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
Gmip |
G |
A |
8: 70,269,439 (GRCm39) |
G537E |
probably damaging |
Het |
Hacd1 |
T |
C |
2: 14,050,013 (GRCm39) |
H64R |
probably damaging |
Het |
Hdac3 |
G |
T |
18: 38,077,185 (GRCm39) |
Q230K |
probably benign |
Het |
Htt |
C |
T |
5: 34,976,387 (GRCm39) |
|
probably benign |
Het |
Il18r1 |
A |
G |
1: 40,526,219 (GRCm39) |
D255G |
possibly damaging |
Het |
Krt9 |
G |
T |
11: 100,080,792 (GRCm39) |
H353Q |
probably damaging |
Het |
Kyat3 |
T |
C |
3: 142,426,235 (GRCm39) |
I57T |
probably benign |
Het |
L1td1 |
A |
G |
4: 98,625,658 (GRCm39) |
K618E |
probably benign |
Het |
Limch1 |
C |
A |
5: 67,159,956 (GRCm39) |
N617K |
possibly damaging |
Het |
Lsm8 |
T |
C |
6: 18,851,651 (GRCm39) |
F34S |
probably damaging |
Het |
Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
Mmrn2 |
C |
A |
14: 34,120,570 (GRCm39) |
A480E |
possibly damaging |
Het |
Mthfd1 |
A |
G |
12: 76,350,483 (GRCm39) |
I474V |
probably benign |
Het |
Mycl |
A |
G |
4: 122,890,770 (GRCm39) |
K152R |
probably damaging |
Het |
Numa1 |
A |
G |
7: 101,649,160 (GRCm39) |
|
probably null |
Het |
Or5p54 |
G |
T |
7: 107,554,423 (GRCm39) |
V192F |
possibly damaging |
Het |
Otog |
A |
C |
7: 45,909,381 (GRCm39) |
D617A |
probably damaging |
Het |
Ppef2 |
A |
G |
5: 92,392,596 (GRCm39) |
I267T |
probably damaging |
Het |
Ptprq |
A |
G |
10: 107,471,226 (GRCm39) |
Y1392H |
probably benign |
Het |
Rasgrp3 |
G |
T |
17: 75,832,097 (GRCm39) |
K639N |
possibly damaging |
Het |
Rgs19 |
C |
T |
2: 181,330,943 (GRCm39) |
R203H |
probably benign |
Het |
Scnn1g |
C |
A |
7: 121,341,669 (GRCm39) |
|
probably benign |
Het |
Tmem181b-ps |
T |
C |
17: 6,734,320 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r118 |
A |
G |
17: 55,917,870 (GRCm39) |
V214A |
possibly damaging |
Het |
Zfp811 |
T |
C |
17: 33,016,789 (GRCm39) |
Y417C |
probably damaging |
Het |
|
Other mutations in Krt82 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00835:Krt82
|
APN |
15 |
101,451,813 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01112:Krt82
|
APN |
15 |
101,453,958 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01820:Krt82
|
APN |
15 |
101,451,887 (GRCm39) |
splice site |
probably benign |
|
IGL02894:Krt82
|
APN |
15 |
101,451,155 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02974:Krt82
|
APN |
15 |
101,459,020 (GRCm39) |
nonsense |
probably null |
|
IGL03263:Krt82
|
APN |
15 |
101,450,307 (GRCm39) |
missense |
probably benign |
0.00 |
R0268:Krt82
|
UTSW |
15 |
101,450,148 (GRCm39) |
missense |
probably benign |
0.02 |
R0385:Krt82
|
UTSW |
15 |
101,454,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R0542:Krt82
|
UTSW |
15 |
101,454,035 (GRCm39) |
splice site |
probably benign |
|
R1073:Krt82
|
UTSW |
15 |
101,458,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R1601:Krt82
|
UTSW |
15 |
101,453,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R1795:Krt82
|
UTSW |
15 |
101,451,819 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1944:Krt82
|
UTSW |
15 |
101,456,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R1974:Krt82
|
UTSW |
15 |
101,453,597 (GRCm39) |
missense |
probably benign |
0.00 |
R2049:Krt82
|
UTSW |
15 |
101,453,591 (GRCm39) |
missense |
probably damaging |
0.96 |
R2140:Krt82
|
UTSW |
15 |
101,453,591 (GRCm39) |
missense |
probably damaging |
0.96 |
R2851:Krt82
|
UTSW |
15 |
101,456,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R2852:Krt82
|
UTSW |
15 |
101,456,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R2853:Krt82
|
UTSW |
15 |
101,456,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R3815:Krt82
|
UTSW |
15 |
101,459,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R4324:Krt82
|
UTSW |
15 |
101,450,182 (GRCm39) |
missense |
probably benign |
0.00 |
R4798:Krt82
|
UTSW |
15 |
101,458,923 (GRCm39) |
missense |
probably benign |
0.01 |
R4980:Krt82
|
UTSW |
15 |
101,453,534 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5212:Krt82
|
UTSW |
15 |
101,453,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R5260:Krt82
|
UTSW |
15 |
101,456,823 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5821:Krt82
|
UTSW |
15 |
101,456,820 (GRCm39) |
nonsense |
probably null |
|
R6009:Krt82
|
UTSW |
15 |
101,453,540 (GRCm39) |
missense |
probably benign |
0.00 |
R6955:Krt82
|
UTSW |
15 |
101,451,284 (GRCm39) |
missense |
probably damaging |
1.00 |
R7194:Krt82
|
UTSW |
15 |
101,451,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R7307:Krt82
|
UTSW |
15 |
101,451,342 (GRCm39) |
missense |
probably damaging |
0.97 |
R7420:Krt82
|
UTSW |
15 |
101,454,022 (GRCm39) |
missense |
probably damaging |
0.96 |
R7837:Krt82
|
UTSW |
15 |
101,456,792 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8354:Krt82
|
UTSW |
15 |
101,450,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R8371:Krt82
|
UTSW |
15 |
101,453,546 (GRCm39) |
missense |
probably benign |
0.12 |
R8454:Krt82
|
UTSW |
15 |
101,450,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R8692:Krt82
|
UTSW |
15 |
101,456,828 (GRCm39) |
missense |
possibly damaging |
0.75 |
R9111:Krt82
|
UTSW |
15 |
101,451,786 (GRCm39) |
missense |
probably benign |
0.01 |
R9187:Krt82
|
UTSW |
15 |
101,450,260 (GRCm39) |
missense |
probably benign |
0.01 |
R9346:Krt82
|
UTSW |
15 |
101,458,959 (GRCm39) |
missense |
probably benign |
|
R9527:Krt82
|
UTSW |
15 |
101,454,558 (GRCm39) |
missense |
probably benign |
0.39 |
Z1176:Krt82
|
UTSW |
15 |
101,450,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |