Incidental Mutation 'IGL02031:Krt34'
| ID |
184357 |
| 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: 0.072)
|
| Stock # |
IGL02031
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99928173-99932380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 99929849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 216
(A216S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056362]
|
| AlphaFold |
Q9D646 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056362
AA Change: A216S
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485
AA Change: A216S
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aipl1 |
T |
C |
11: 71,921,028 (GRCm39) |
|
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,751,253 (GRCm39) |
D378G |
possibly damaging |
Het |
| Ankrd33b |
A |
T |
15: 31,325,329 (GRCm39) |
F129L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,065,222 (GRCm39) |
K4064E |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,302,656 (GRCm39) |
D506G |
probably damaging |
Het |
| Arid4b |
A |
C |
13: 14,327,997 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
A |
T |
12: 100,899,570 (GRCm39) |
Y1263N |
probably damaging |
Het |
| Ckap5 |
T |
C |
2: 91,443,117 (GRCm39) |
L1697P |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,209,253 (GRCm39) |
F230S |
probably damaging |
Het |
| Cpxm1 |
C |
T |
2: 130,235,601 (GRCm39) |
V464M |
probably damaging |
Het |
| Dhrs7c |
A |
G |
11: 67,706,715 (GRCm39) |
E291G |
probably benign |
Het |
| Dst |
C |
A |
1: 34,228,998 (GRCm39) |
P1872H |
possibly damaging |
Het |
| G6pc2 |
G |
A |
2: 69,053,335 (GRCm39) |
A130T |
probably benign |
Het |
| Gm4847 |
A |
G |
1: 166,462,578 (GRCm39) |
V304A |
probably damaging |
Het |
| Gm8267 |
T |
C |
14: 44,955,374 (GRCm39) |
D155G |
possibly damaging |
Het |
| Kank1 |
G |
A |
19: 25,388,066 (GRCm39) |
V580I |
probably benign |
Het |
| Kcnh4 |
A |
G |
11: 100,636,649 (GRCm39) |
S757P |
probably damaging |
Het |
| Mfhas1 |
A |
T |
8: 36,056,526 (GRCm39) |
I334F |
probably damaging |
Het |
| Mrgprb8 |
A |
G |
7: 48,039,087 (GRCm39) |
M253V |
probably benign |
Het |
| Or52n4b |
A |
T |
7: 108,144,137 (GRCm39) |
H133L |
probably benign |
Het |
| Pp2d1 |
T |
A |
17: 53,815,468 (GRCm39) |
T419S |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,060,782 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
G |
5: 22,184,014 (GRCm39) |
S1662P |
probably damaging |
Het |
| Sema7a |
G |
A |
9: 57,862,423 (GRCm39) |
E209K |
possibly damaging |
Het |
| Serinc2 |
C |
T |
4: 130,158,237 (GRCm39) |
W15* |
probably null |
Het |
| Serpina3k |
A |
G |
12: 104,311,525 (GRCm39) |
T368A |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,129,289 (GRCm39) |
W54R |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,419,833 (GRCm39) |
S1001N |
probably benign |
Het |
| Snapc3 |
A |
G |
4: 83,336,213 (GRCm39) |
D75G |
probably benign |
Het |
| Spata31e2 |
A |
G |
1: 26,724,104 (GRCm39) |
Y359H |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,532,820 (GRCm39) |
S333P |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,610,948 (GRCm39) |
D469G |
probably damaging |
Het |
|
| Other mutations in Krt34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00593:Krt34
|
APN |
11 |
99,929,520 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation