Incidental Mutation 'IGL01454:Krt32'
| ID |
84724 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt32
|
| Ensembl Gene |
ENSMUSG00000046095 |
| Gene Name |
keratin 32 |
| Synonyms |
mHa2, Krt1-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL01454
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99971674-99979095 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 99974907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 347
(E347K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107419]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107419
AA Change: E347K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103042
Gene: ENSMUSG00000046095
AA Change: E347K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
Filament
|
100 |
411 |
5.4e-150 |
SMART |
|
low complexity region
|
435 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139873
|
| 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 I hair keratin, it 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
G |
A |
6: 87,473,058 (GRCm39) |
A33V |
possibly damaging |
Het |
| BC004004 |
T |
C |
17: 29,512,995 (GRCm39) |
S140P |
possibly damaging |
Het |
| Cul3 |
T |
C |
1: 80,281,900 (GRCm39) |
D26G |
probably damaging |
Het |
| Dnah17 |
A |
T |
11: 117,949,223 (GRCm39) |
F2929I |
probably damaging |
Het |
| Gm21560 |
A |
G |
14: 6,216,286 (GRCm38) |
F186L |
probably benign |
Het |
| Mtarc1 |
A |
G |
1: 184,539,377 (GRCm39) |
L98P |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,174,422 (GRCm39) |
I223T |
probably damaging |
Het |
| Nr4a3 |
T |
A |
4: 48,067,803 (GRCm39) |
D466E |
probably damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,942,422 (GRCm39) |
D1757V |
probably damaging |
Het |
| Pnpt1 |
T |
C |
11: 29,087,142 (GRCm39) |
I167T |
probably benign |
Het |
| Polrmt |
T |
C |
10: 79,579,517 (GRCm39) |
E78G |
possibly damaging |
Het |
| Pparg |
A |
G |
6: 115,416,900 (GRCm39) |
D31G |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Trio |
T |
C |
15: 27,833,071 (GRCm39) |
I104V |
probably benign |
Het |
| Vgll4 |
A |
G |
6: 114,840,957 (GRCm39) |
V113A |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,483,334 (GRCm39) |
E445G |
probably benign |
Het |
|
| Other mutations in Krt32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01089:Krt32
|
APN |
11 |
99,978,605 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02268:Krt32
|
APN |
11 |
99,978,967 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02502:Krt32
|
APN |
11 |
99,978,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Krt32
|
APN |
11 |
99,974,876 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02799:Krt32
|
UTSW |
11 |
99,978,733 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0840:Krt32
|
UTSW |
11 |
99,972,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1503:Krt32
|
UTSW |
11 |
99,974,936 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1944:Krt32
|
UTSW |
11 |
99,975,670 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1945:Krt32
|
UTSW |
11 |
99,975,670 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2426:Krt32
|
UTSW |
11 |
99,977,192 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3774:Krt32
|
UTSW |
11 |
99,978,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3775:Krt32
|
UTSW |
11 |
99,978,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3776:Krt32
|
UTSW |
11 |
99,978,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5522:Krt32
|
UTSW |
11 |
99,977,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5794:Krt32
|
UTSW |
11 |
99,975,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6109:Krt32
|
UTSW |
11 |
99,978,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6994:Krt32
|
UTSW |
11 |
99,977,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7375:Krt32
|
UTSW |
11 |
99,972,050 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7577:Krt32
|
UTSW |
11 |
99,972,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8249:Krt32
|
UTSW |
11 |
99,977,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9207:Krt32
|
UTSW |
11 |
99,977,580 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9303:Krt32
|
UTSW |
11 |
99,972,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9305:Krt32
|
UTSW |
11 |
99,972,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9684:Krt32
|
UTSW |
11 |
99,977,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Krt32
|
UTSW |
11 |
99,979,042 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Krt32
|
UTSW |
11 |
99,974,895 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2013-11-11 |
Incidental Mutation