Incidental Mutation 'IGL00835:Krt82'
| ID |
12702 |
| 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 # |
IGL00835
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101449651-101459094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101451813 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 334
(I334N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023713]
|
| AlphaFold |
Q99M74 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023713
AA Change: I334N
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548
AA Change: I334N
| 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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,341,892 (GRCm39) |
D1023G |
probably damaging |
Het |
| Agbl3 |
A |
G |
6: 34,776,667 (GRCm39) |
D391G |
probably damaging |
Het |
| Aggf1 |
C |
A |
13: 95,498,985 (GRCm39) |
V450F |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,599,116 (GRCm39) |
Y1314C |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,537,106 (GRCm39) |
F192L |
probably benign |
Het |
| Arnt |
A |
G |
3: 95,397,651 (GRCm39) |
D541G |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,650,864 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
T |
10: 100,399,242 (GRCm39) |
R2255* |
probably null |
Het |
| Creb3l4 |
T |
A |
3: 90,149,294 (GRCm39) |
H138L |
possibly damaging |
Het |
| Crispld2 |
G |
A |
8: 120,737,387 (GRCm39) |
R46H |
probably damaging |
Het |
| Crlf3 |
T |
C |
11: 79,938,501 (GRCm39) |
T379A |
probably benign |
Het |
| Ctsb |
T |
A |
14: 63,373,099 (GRCm39) |
D85E |
probably damaging |
Het |
| Etv2 |
A |
T |
7: 30,333,092 (GRCm39) |
D325E |
probably benign |
Het |
| Fggy |
T |
A |
4: 95,725,865 (GRCm39) |
I335N |
possibly damaging |
Het |
| Fkbp1b |
C |
T |
12: 4,883,726 (GRCm39) |
G90S |
probably damaging |
Het |
| Glra3 |
A |
G |
8: 56,394,012 (GRCm39) |
|
probably benign |
Het |
| Gpatch8 |
C |
A |
11: 102,369,375 (GRCm39) |
A1388S |
probably damaging |
Het |
| Grin2b |
T |
A |
6: 135,710,568 (GRCm39) |
S993C |
probably damaging |
Het |
| Gsg1 |
A |
T |
6: 135,221,090 (GRCm39) |
M103K |
possibly damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,337,551 (GRCm39) |
V110D |
probably damaging |
Het |
| Kat8 |
A |
G |
7: 127,519,676 (GRCm39) |
D174G |
probably damaging |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,140 (GRCm39) |
T515I |
possibly damaging |
Het |
| Lrrtm2 |
T |
A |
18: 35,347,292 (GRCm39) |
L3F |
probably benign |
Het |
| Man1c1 |
T |
A |
4: 134,291,843 (GRCm39) |
Q575L |
probably damaging |
Het |
| Panx1 |
A |
G |
9: 14,919,140 (GRCm39) |
S240P |
probably damaging |
Het |
| Phldb2 |
G |
A |
16: 45,571,819 (GRCm39) |
T1191I |
probably damaging |
Het |
| Plb1 |
G |
A |
5: 32,521,516 (GRCm39) |
E1456K |
unknown |
Het |
| Prtn3 |
A |
G |
10: 79,716,886 (GRCm39) |
T84A |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,163,369 (GRCm39) |
|
probably benign |
Het |
| Sirpa |
G |
A |
2: 129,451,103 (GRCm39) |
C121Y |
probably damaging |
Het |
| Slc9a3 |
C |
A |
13: 74,308,421 (GRCm39) |
H475N |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,728,623 (GRCm39) |
D121V |
probably damaging |
Het |
| Spata16 |
A |
T |
3: 26,978,411 (GRCm39) |
E459V |
probably damaging |
Het |
| Sult2a4 |
T |
A |
7: 13,643,714 (GRCm39) |
E284D |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 55,965,942 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
A |
C |
6: 12,554,933 (GRCm39) |
V317G |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,219,770 (GRCm39) |
E182G |
probably benign |
Het |
| Tsc1 |
A |
G |
2: 28,562,478 (GRCm39) |
D368G |
possibly damaging |
Het |
| Ttc39d |
T |
G |
17: 80,523,955 (GRCm39) |
C205G |
probably damaging |
Het |
| Unc79 |
T |
G |
12: 103,108,149 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,887,222 (GRCm39) |
D724E |
probably damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,713,783 (GRCm39) |
|
probably null |
Het |
| Zfp507 |
G |
T |
7: 35,475,463 (GRCm39) |
H917N |
probably damaging |
Het |
|
| Other mutations in Krt82 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
IGL02529:Krt82
|
APN |
15 |
101,458,831 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2012-12-06 |
Incidental Mutation