Incidental Mutation 'IGL02968:Krt12'
ID |
365710 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Krt12
|
Ensembl Gene |
ENSMUSG00000020912 |
Gene Name |
keratin 12 |
Synonyms |
K12, Krt1-12 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.152)
|
Stock # |
IGL02968
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
99306492-99313085 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 99308843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 398
(A398E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017741
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017741]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017741
AA Change: A398E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000017741 Gene: ENSMUSG00000020912 AA Change: A398E
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
69 |
N/A |
INTRINSIC |
low complexity region
|
73 |
104 |
N/A |
INTRINSIC |
Filament
|
118 |
432 |
1.87e-153 |
SMART |
low complexity region
|
474 |
486 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128904
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132858
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139095
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KRT12 encodes the type I intermediate filament chain keratin 12, expressed in corneal epithelia. Mutations in this gene lead to Meesmann corneal dystrophy. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mutants display abnormal and fragile corneal epithelium. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
T |
6: 91,900,454 (GRCm39) |
D441V |
probably damaging |
Het |
Abcd1 |
T |
C |
X: 72,760,664 (GRCm39) |
S10P |
possibly damaging |
Het |
Acad12 |
T |
C |
5: 121,748,101 (GRCm39) |
S106G |
probably benign |
Het |
C1s1 |
T |
C |
6: 124,517,310 (GRCm39) |
T127A |
probably damaging |
Het |
Cela3a |
A |
G |
4: 137,131,132 (GRCm39) |
V202A |
probably damaging |
Het |
Cenpu |
T |
C |
8: 47,009,230 (GRCm39) |
|
probably null |
Het |
Dusp9 |
T |
C |
X: 72,685,039 (GRCm39) |
S222P |
probably benign |
Het |
Exoc5 |
A |
G |
14: 49,270,726 (GRCm39) |
|
probably null |
Het |
Foxp1 |
G |
T |
6: 99,052,822 (GRCm39) |
A90D |
probably damaging |
Het |
Mtss1 |
G |
T |
15: 58,828,364 (GRCm39) |
T183K |
possibly damaging |
Het |
Napa |
T |
C |
7: 15,847,266 (GRCm39) |
|
probably benign |
Het |
Nlrp2 |
T |
C |
7: 5,304,024 (GRCm39) |
E167G |
possibly damaging |
Het |
Nos2 |
T |
C |
11: 78,828,463 (GRCm39) |
Y148H |
probably damaging |
Het |
Or2t43 |
T |
C |
11: 58,458,021 (GRCm39) |
D50G |
possibly damaging |
Het |
Or51aa5 |
C |
T |
7: 103,167,466 (GRCm39) |
V42M |
probably damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,451 (GRCm39) |
F163I |
possibly damaging |
Het |
Pde7a |
G |
A |
3: 19,297,285 (GRCm39) |
R122* |
probably null |
Het |
Pkdrej |
A |
T |
15: 85,700,382 (GRCm39) |
Y1851* |
probably null |
Het |
Rbl1 |
C |
T |
2: 157,019,194 (GRCm39) |
R517H |
probably damaging |
Het |
Rnf10 |
A |
T |
5: 115,383,947 (GRCm39) |
S661T |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,743,318 (GRCm39) |
D3886G |
probably damaging |
Het |
Samd9l |
A |
G |
6: 3,376,026 (GRCm39) |
Y412H |
probably damaging |
Het |
Scarf1 |
T |
C |
11: 75,414,915 (GRCm39) |
S530P |
probably damaging |
Het |
Spam1 |
A |
G |
6: 24,796,442 (GRCm39) |
E131G |
possibly damaging |
Het |
Tmem185b |
C |
A |
1: 119,454,851 (GRCm39) |
A204E |
possibly damaging |
Het |
Tshz3 |
A |
G |
7: 36,469,249 (GRCm39) |
K413E |
probably damaging |
Het |
Vps13d |
A |
G |
4: 144,849,068 (GRCm39) |
S2448P |
probably benign |
Het |
Xkr5 |
T |
C |
8: 18,983,641 (GRCm39) |
S634G |
probably benign |
Het |
Zic1 |
G |
A |
9: 91,244,543 (GRCm39) |
T372M |
probably damaging |
Het |
|
Other mutations in Krt12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0348:Krt12
|
UTSW |
11 |
99,308,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R1104:Krt12
|
UTSW |
11 |
99,312,792 (GRCm39) |
missense |
unknown |
|
R1662:Krt12
|
UTSW |
11 |
99,311,650 (GRCm39) |
missense |
probably benign |
0.42 |
R1763:Krt12
|
UTSW |
11 |
99,306,886 (GRCm39) |
missense |
probably damaging |
1.00 |
R1886:Krt12
|
UTSW |
11 |
99,309,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R2087:Krt12
|
UTSW |
11 |
99,309,459 (GRCm39) |
missense |
probably damaging |
0.98 |
R3859:Krt12
|
UTSW |
11 |
99,309,319 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3942:Krt12
|
UTSW |
11 |
99,312,922 (GRCm39) |
missense |
unknown |
|
R4030:Krt12
|
UTSW |
11 |
99,312,854 (GRCm39) |
missense |
unknown |
|
R4061:Krt12
|
UTSW |
11 |
99,306,841 (GRCm39) |
missense |
unknown |
|
R4672:Krt12
|
UTSW |
11 |
99,309,509 (GRCm39) |
intron |
probably benign |
|
R4867:Krt12
|
UTSW |
11 |
99,307,789 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4907:Krt12
|
UTSW |
11 |
99,309,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R5592:Krt12
|
UTSW |
11 |
99,311,650 (GRCm39) |
missense |
probably benign |
0.00 |
R6276:Krt12
|
UTSW |
11 |
99,312,728 (GRCm39) |
nonsense |
probably null |
|
R6326:Krt12
|
UTSW |
11 |
99,307,745 (GRCm39) |
missense |
probably benign |
|
R7108:Krt12
|
UTSW |
11 |
99,306,878 (GRCm39) |
missense |
unknown |
|
R7144:Krt12
|
UTSW |
11 |
99,306,839 (GRCm39) |
makesense |
probably null |
|
R7524:Krt12
|
UTSW |
11 |
99,310,485 (GRCm39) |
missense |
probably damaging |
1.00 |
R7769:Krt12
|
UTSW |
11 |
99,308,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R7813:Krt12
|
UTSW |
11 |
99,309,309 (GRCm39) |
critical splice donor site |
probably null |
|
R9063:Krt12
|
UTSW |
11 |
99,307,757 (GRCm39) |
missense |
probably benign |
0.03 |
R9113:Krt12
|
UTSW |
11 |
99,309,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R9656:Krt12
|
UTSW |
11 |
99,309,471 (GRCm39) |
missense |
|
|
X0026:Krt12
|
UTSW |
11 |
99,310,410 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Krt12
|
UTSW |
11 |
99,311,587 (GRCm39) |
nonsense |
probably null |
|
Z1177:Krt12
|
UTSW |
11 |
99,312,930 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2015-12-18 |