Incidental Mutation 'IGL01737:Krt36'
ID |
105732 |
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: 0.056)
|
Stock # |
IGL01737
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
99992833-99996452 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 99994946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 209
(C209S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103039
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107416]
|
AlphaFold |
B1AQ75 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107416
AA Change: C209S
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103039 Gene: ENSMUSG00000020916 AA Change: C209S
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
A |
G |
13: 104,526,643 (GRCm39) |
I524V |
probably damaging |
Het |
Atxn2 |
T |
A |
5: 121,935,407 (GRCm39) |
M336K |
probably damaging |
Het |
Bcr |
T |
A |
10: 74,990,783 (GRCm39) |
F763Y |
probably damaging |
Het |
Bdnf |
A |
G |
2: 109,554,100 (GRCm39) |
Y158C |
probably damaging |
Het |
Ccdc92 |
T |
C |
5: 124,912,920 (GRCm39) |
E203G |
probably damaging |
Het |
Cyp2j12 |
T |
C |
4: 96,010,895 (GRCm39) |
*72W |
probably null |
Het |
Def6 |
G |
T |
17: 28,442,701 (GRCm39) |
R288L |
possibly damaging |
Het |
Foxn1 |
T |
G |
11: 78,251,732 (GRCm39) |
S500R |
possibly damaging |
Het |
Gss |
T |
C |
2: 155,409,726 (GRCm39) |
K77E |
probably damaging |
Het |
Habp2 |
G |
A |
19: 56,304,739 (GRCm39) |
G410D |
probably benign |
Het |
Mmrn1 |
T |
C |
6: 60,954,145 (GRCm39) |
F809L |
probably benign |
Het |
Mptx2 |
C |
A |
1: 173,102,408 (GRCm39) |
V94F |
probably damaging |
Het |
Myh4 |
G |
T |
11: 67,134,245 (GRCm39) |
|
probably benign |
Het |
N4bp2l1 |
G |
T |
5: 150,517,781 (GRCm39) |
H41N |
possibly damaging |
Het |
Ndnf |
T |
A |
6: 65,680,539 (GRCm39) |
S273T |
probably benign |
Het |
Nt5c1b |
A |
T |
12: 10,440,108 (GRCm39) |
Y624F |
possibly damaging |
Het |
Prss8 |
C |
T |
7: 127,525,752 (GRCm39) |
V256M |
probably damaging |
Het |
Ramp1 |
T |
C |
1: 91,150,821 (GRCm39) |
|
probably benign |
Het |
Sf3b2 |
A |
G |
19: 5,329,866 (GRCm39) |
|
probably benign |
Het |
Tfdp2 |
G |
A |
9: 96,182,465 (GRCm39) |
R235Q |
possibly damaging |
Het |
Tle1 |
C |
T |
4: 72,116,058 (GRCm39) |
|
probably benign |
Het |
Tmprss11e |
A |
G |
5: 86,867,593 (GRCm39) |
V159A |
probably damaging |
Het |
Trim12c |
A |
G |
7: 103,997,269 (GRCm39) |
C96R |
probably damaging |
Het |
Usp24 |
A |
G |
4: 106,244,931 (GRCm39) |
D1256G |
probably benign |
Het |
|
Other mutations in Krt36 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00978:Krt36
|
APN |
11 |
99,993,774 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
2014-01-21 |