Incidental Mutation 'IGL00978:Krt36'
| ID |
28655 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt36
|
| Ensembl Gene |
ENSMUSG00000020916 |
| Gene Name |
keratin 36 |
| Synonyms |
Krt1-5, HRa-1, keratin 5, Krt1-22 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
IGL00978
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99992833-99996452 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99993774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 355
(I355V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107416]
|
| AlphaFold |
B1AQ75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107416
AA Change: I355V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103039
Gene: ENSMUSG00000020916
AA Change: I355V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
36 |
N/A |
INTRINSIC |
|
Filament
|
92 |
403 |
4.05e-163 |
SMART |
|
low complexity region
|
425 |
443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127883
|
| 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. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hyperkeratosis affecting the scales of the tail skin and the filiform papillae of the tongue. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009L18Rik |
T |
C |
11: 120,241,773 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,424,605 (GRCm39) |
|
probably benign |
Het |
| Angptl8 |
T |
C |
9: 21,748,349 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
T |
A |
4: 126,722,632 (GRCm39) |
D383E |
probably benign |
Het |
| Cep97 |
C |
T |
16: 55,745,323 (GRCm39) |
|
probably benign |
Het |
| Clcn4 |
A |
T |
7: 7,290,672 (GRCm39) |
L649H |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,415,899 (GRCm39) |
N1416S |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,326,456 (GRCm39) |
P1027S |
probably damaging |
Het |
| Eya1 |
A |
G |
1: 14,340,925 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
T |
C |
13: 97,299,485 (GRCm39) |
I402T |
probably benign |
Het |
| Gmeb2 |
A |
T |
2: 180,900,836 (GRCm39) |
V187E |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,838,173 (GRCm39) |
H662R |
possibly damaging |
Het |
| Ifne |
T |
C |
4: 88,798,268 (GRCm39) |
Q50R |
probably benign |
Het |
| Kidins220 |
A |
G |
12: 25,107,473 (GRCm39) |
D1642G |
probably damaging |
Het |
| Klhl32 |
T |
A |
4: 24,682,245 (GRCm39) |
D146V |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,601,188 (GRCm39) |
S73R |
possibly damaging |
Het |
| Ltbp3 |
A |
T |
19: 5,804,047 (GRCm39) |
H853L |
probably benign |
Het |
| Map3k5 |
G |
A |
10: 20,017,313 (GRCm39) |
R1369Q |
probably damaging |
Het |
| Mcm8 |
A |
G |
2: 132,663,326 (GRCm39) |
N148S |
probably benign |
Het |
| Mylk3 |
A |
T |
8: 86,082,155 (GRCm39) |
L211* |
probably null |
Het |
| Nras |
T |
C |
3: 102,966,232 (GRCm39) |
|
probably benign |
Het |
| Or2n1c |
A |
T |
17: 38,519,873 (GRCm39) |
I246F |
probably damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Os9 |
A |
T |
10: 126,956,378 (GRCm39) |
Y66N |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,151,228 (GRCm39) |
D15G |
possibly damaging |
Het |
| Reg3a |
A |
T |
6: 78,359,284 (GRCm39) |
R95* |
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,749,728 (GRCm39) |
P1425S |
probably damaging |
Het |
| Smad2 |
T |
C |
18: 76,432,846 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
C |
T |
12: 85,980,256 (GRCm39) |
Q76* |
probably null |
Het |
| Uri1 |
A |
T |
7: 37,696,156 (GRCm39) |
|
probably benign |
Het |
| Vmn2r102 |
G |
T |
17: 19,899,185 (GRCm39) |
|
probably null |
Het |
| Vmn2r70 |
T |
G |
7: 85,213,007 (GRCm39) |
M467L |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,724,652 (GRCm39) |
D2218E |
possibly damaging |
Het |
| Zfp692 |
T |
C |
11: 58,204,855 (GRCm39) |
I405T |
possibly damaging |
Het |
| Zfp692 |
A |
G |
11: 58,200,824 (GRCm39) |
H235R |
possibly damaging |
Het |
|
| Other mutations in Krt36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01737:Krt36
|
APN |
11 |
99,994,946 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02388:Krt36
|
APN |
11 |
99,995,990 (GRCm39) |
nonsense |
probably null |
|
|
IGL02985:Krt36
|
APN |
11 |
99,994,005 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0393:Krt36
|
UTSW |
11 |
99,994,940 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0617:Krt36
|
UTSW |
11 |
99,993,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0930:Krt36
|
UTSW |
11 |
99,994,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1166:Krt36
|
UTSW |
11 |
99,993,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1201:Krt36
|
UTSW |
11 |
99,994,883 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1587:Krt36
|
UTSW |
11 |
99,993,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Krt36
|
UTSW |
11 |
99,994,884 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1826:Krt36
|
UTSW |
11 |
99,993,856 (GRCm39) |
splice site |
probably benign |
|
|
R1846:Krt36
|
UTSW |
11 |
99,996,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Krt36
|
UTSW |
11 |
99,993,765 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4303:Krt36
|
UTSW |
11 |
99,994,239 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5140:Krt36
|
UTSW |
11 |
99,994,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Krt36
|
UTSW |
11 |
99,994,987 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5944:Krt36
|
UTSW |
11 |
99,996,139 (GRCm39) |
missense |
probably benign |
|
|
R6188:Krt36
|
UTSW |
11 |
99,993,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6271:Krt36
|
UTSW |
11 |
99,995,298 (GRCm39) |
nonsense |
probably null |
|
|
R6809:Krt36
|
UTSW |
11 |
99,996,335 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6856:Krt36
|
UTSW |
11 |
99,994,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7153:Krt36
|
UTSW |
11 |
99,995,972 (GRCm39) |
nonsense |
probably null |
|
|
R7602:Krt36
|
UTSW |
11 |
99,993,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7822:Krt36
|
UTSW |
11 |
99,994,966 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7894:Krt36
|
UTSW |
11 |
99,996,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8234:Krt36
|
UTSW |
11 |
99,995,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Krt36
|
UTSW |
11 |
99,993,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8904:Krt36
|
UTSW |
11 |
99,996,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Krt36
|
UTSW |
11 |
99,993,129 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8987:Krt36
|
UTSW |
11 |
99,994,372 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9297:Krt36
|
UTSW |
11 |
99,994,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Krt36
|
UTSW |
11 |
99,994,227 (GRCm39) |
nonsense |
probably null |
|
|
R9387:Krt36
|
UTSW |
11 |
99,994,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9585:Krt36
|
UTSW |
11 |
99,994,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Krt36
|
UTSW |
11 |
99,995,015 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2013-04-17 |
Incidental Mutation