Incidental Mutation 'IGL00593:Krt34'
| ID |
4500 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt34
|
| Ensembl Gene |
ENSMUSG00000043485 |
| Gene Name |
keratin 34 |
| Synonyms |
4733401E01Rik, Krt1-4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL00593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99928173-99932380 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 99929520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056362]
|
| AlphaFold |
Q9D646 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056362
|
| SMART Domains |
Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
Filament
|
55 |
366 |
7.76e-151 |
SMART |
|
low complexity region
|
378 |
392 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: 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. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr2 |
A |
T |
X: 21,352,719 (GRCm39) |
K118* |
probably null |
Het |
| Akap14 |
A |
T |
X: 36,414,484 (GRCm39) |
H525Q |
possibly damaging |
Het |
| Crb1 |
T |
C |
1: 139,250,983 (GRCm39) |
I323V |
probably benign |
Het |
| H60b |
T |
C |
10: 22,162,962 (GRCm39) |
I179T |
possibly damaging |
Het |
| Mroh9 |
T |
C |
1: 162,873,350 (GRCm39) |
N541D |
possibly damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,942,936 (GRCm39) |
I1841F |
probably benign |
Het |
| Ppp4r3b |
A |
G |
11: 29,147,205 (GRCm39) |
D3G |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,626 (GRCm39) |
T1829A |
possibly damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,142,307 (GRCm39) |
F468L |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,053,173 (GRCm39) |
E1301G |
probably damaging |
Het |
| Tpd52l2 |
A |
T |
2: 181,141,689 (GRCm39) |
D24V |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,382,490 (GRCm39) |
V209A |
probably benign |
Het |
| Zfp141 |
A |
T |
7: 42,124,731 (GRCm39) |
C580* |
probably null |
Het |
| Zfp422 |
C |
A |
6: 116,603,919 (GRCm39) |
A27S |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,796,605 (GRCm39) |
*778R |
probably null |
Het |
|
| Other mutations in Krt34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Krt34
|
APN |
11 |
99,929,606 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01403:Krt34
|
APN |
11 |
99,929,116 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01453:Krt34
|
APN |
11 |
99,930,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02031:Krt34
|
APN |
11 |
99,929,849 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02831:Krt34
|
APN |
11 |
99,930,973 (GRCm39) |
splice site |
probably benign |
|
|
R0024:Krt34
|
UTSW |
11 |
99,931,863 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0024:Krt34
|
UTSW |
11 |
99,931,863 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0220:Krt34
|
UTSW |
11 |
99,929,519 (GRCm39) |
splice site |
probably benign |
|
|
R0242:Krt34
|
UTSW |
11 |
99,932,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Krt34
|
UTSW |
11 |
99,931,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1714:Krt34
|
UTSW |
11 |
99,930,953 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1879:Krt34
|
UTSW |
11 |
99,929,118 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3084:Krt34
|
UTSW |
11 |
99,931,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3692:Krt34
|
UTSW |
11 |
99,929,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3819:Krt34
|
UTSW |
11 |
99,930,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3872:Krt34
|
UTSW |
11 |
99,932,243 (GRCm39) |
missense |
probably benign |
|
|
R3876:Krt34
|
UTSW |
11 |
99,931,791 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6164:Krt34
|
UTSW |
11 |
99,929,272 (GRCm39) |
nonsense |
probably null |
|
|
R6338:Krt34
|
UTSW |
11 |
99,929,316 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6457:Krt34
|
UTSW |
11 |
99,930,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Krt34
|
UTSW |
11 |
99,930,811 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7748:Krt34
|
UTSW |
11 |
99,929,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Krt34
|
UTSW |
11 |
99,932,321 (GRCm39) |
start codon destroyed |
probably null |
0.42 |
|
R8458:Krt34
|
UTSW |
11 |
99,930,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Krt34
|
UTSW |
11 |
99,930,971 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9262:Krt34
|
UTSW |
11 |
99,930,851 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9514:Krt34
|
UTSW |
11 |
99,929,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Krt34
|
UTSW |
11 |
99,932,260 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation