Incidental Mutation 'IGL01453:Krt34'
| ID |
84700 |
| 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 # |
IGL01453
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99928173-99932380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99930916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 162
(L162Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056362]
|
| AlphaFold |
Q9D646 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056362
AA Change: L162Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485
AA Change: L162Q
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,831,705 (GRCm39) |
S1216P |
probably damaging |
Het |
| Abl1 |
A |
G |
2: 31,668,989 (GRCm39) |
T104A |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,296,202 (GRCm39) |
M1066K |
possibly damaging |
Het |
| Armc1 |
T |
C |
3: 19,198,594 (GRCm39) |
N122S |
probably benign |
Het |
| Fat1 |
C |
T |
8: 45,504,307 (GRCm39) |
T4600M |
probably damaging |
Het |
| Hrh1 |
T |
A |
6: 114,458,123 (GRCm39) |
I468N |
probably damaging |
Het |
| Macrod2 |
A |
T |
2: 140,294,492 (GRCm39) |
|
probably benign |
Het |
| Mfsd9 |
C |
A |
1: 40,829,638 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
C |
T |
10: 111,328,839 (GRCm39) |
T256I |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,192 (GRCm39) |
I54V |
probably benign |
Het |
| Or5h22 |
T |
C |
16: 58,895,132 (GRCm39) |
I104V |
probably benign |
Het |
| Or6k4 |
A |
G |
1: 173,964,679 (GRCm39) |
Y123C |
possibly damaging |
Het |
| Pard6a |
T |
A |
8: 106,429,309 (GRCm39) |
|
probably null |
Het |
| Pmm2 |
G |
A |
16: 8,466,532 (GRCm39) |
R119Q |
probably damaging |
Het |
| Por |
C |
T |
5: 135,763,040 (GRCm39) |
Q517* |
probably null |
Het |
| Ppil6 |
T |
C |
10: 41,374,473 (GRCm39) |
I118T |
probably benign |
Het |
| Psg26 |
A |
G |
7: 18,213,999 (GRCm39) |
V221A |
possibly damaging |
Het |
| Ptpru |
C |
A |
4: 131,496,803 (GRCm39) |
|
probably benign |
Het |
| Rpl27a |
T |
A |
7: 109,118,832 (GRCm39) |
V15E |
probably benign |
Het |
| Setd1b |
T |
C |
5: 123,296,527 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
A |
G |
13: 24,058,714 (GRCm39) |
N56S |
probably damaging |
Het |
| Sybu |
A |
T |
15: 44,536,201 (GRCm39) |
D508E |
probably damaging |
Het |
| Tada2b |
A |
C |
5: 36,633,686 (GRCm39) |
N222K |
probably damaging |
Het |
| Tbcb |
T |
C |
7: 29,930,627 (GRCm39) |
|
probably null |
Het |
| Tmprss11f |
C |
A |
5: 86,692,691 (GRCm39) |
G78* |
probably null |
Het |
| Vmn2r65 |
T |
C |
7: 84,589,708 (GRCm39) |
Y736C |
probably damaging |
Het |
| Zc3h7a |
G |
A |
16: 10,967,242 (GRCm39) |
P517S |
probably benign |
Het |
| Zfp280d |
A |
G |
9: 72,229,868 (GRCm39) |
T392A |
possibly damaging |
Het |
| Zfp318 |
T |
A |
17: 46,719,942 (GRCm39) |
|
probably null |
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 |
|
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 |
2013-11-11 |
Incidental Mutation