Incidental Mutation 'R3859:Krt12'
| ID |
276298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt12
|
| Ensembl Gene |
ENSMUSG00000020912 |
| Gene Name |
keratin 12 |
| Synonyms |
K12, Krt1-12 |
| MMRRC Submission |
040787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R3859 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99306492-99313085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99309319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 314
(L314F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017741]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017741
AA Change: L314F
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000017741
Gene: ENSMUSG00000020912
AA Change: L314F
| 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
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
95% (36/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot4 |
A |
G |
12: 84,090,218 (GRCm39) |
N305S |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,988,223 (GRCm39) |
E3169G |
possibly damaging |
Het |
| Cav2 |
G |
T |
6: 17,281,462 (GRCm39) |
D35Y |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,207,437 (GRCm39) |
Y582C |
probably damaging |
Het |
| Ctla2b |
T |
A |
13: 61,043,857 (GRCm39) |
Y128F |
possibly damaging |
Het |
| Dnajc5b |
G |
T |
3: 19,628,966 (GRCm39) |
G87* |
probably null |
Het |
| Erc2 |
A |
G |
14: 28,197,599 (GRCm39) |
|
probably benign |
Het |
| Ezhip |
A |
G |
X: 5,994,710 (GRCm39) |
S102P |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,908,524 (GRCm39) |
Q2493* |
probably null |
Het |
| Fbl |
G |
A |
7: 27,873,935 (GRCm39) |
|
probably benign |
Het |
| Fbp1 |
C |
T |
13: 63,012,930 (GRCm39) |
G88S |
probably damaging |
Het |
| Fzd3 |
A |
T |
14: 65,477,288 (GRCm39) |
C89S |
possibly damaging |
Het |
| Gnao1 |
C |
T |
8: 94,538,273 (GRCm39) |
|
probably benign |
Het |
| Hspa14 |
A |
T |
2: 3,495,616 (GRCm39) |
C304* |
probably null |
Het |
| Itih4 |
T |
C |
14: 30,614,286 (GRCm39) |
L412P |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,018,290 (GRCm39) |
L995P |
probably damaging |
Het |
| Nfatc1 |
T |
C |
18: 80,708,490 (GRCm39) |
|
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,405 (GRCm39) |
M1T |
probably null |
Het |
| Or5b119 |
T |
A |
19: 13,457,494 (GRCm39) |
I23F |
possibly damaging |
Het |
| Or8b55 |
G |
A |
9: 38,727,443 (GRCm39) |
V215I |
probably benign |
Het |
| Papss1 |
T |
A |
3: 131,313,096 (GRCm39) |
L349Q |
probably benign |
Het |
| Pcdha6 |
C |
T |
18: 37,102,984 (GRCm39) |
P6S |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,222,630 (GRCm39) |
E487G |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,797,066 (GRCm39) |
|
probably benign |
Het |
| Prl8a9 |
C |
T |
13: 27,742,147 (GRCm39) |
G238E |
probably damaging |
Het |
| Pth2r |
A |
T |
1: 65,361,206 (GRCm39) |
I52F |
probably damaging |
Het |
| Purg |
T |
C |
8: 33,876,587 (GRCm39) |
F75S |
possibly damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,990,286 (GRCm39) |
T719A |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,361,646 (GRCm39) |
P391L |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,976,558 (GRCm39) |
L1241P |
possibly damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,193,245 (GRCm39) |
F402L |
possibly damaging |
Het |
| Tle4 |
G |
A |
19: 14,445,577 (GRCm39) |
T223I |
probably benign |
Het |
| Tram2 |
A |
C |
1: 21,074,204 (GRCm39) |
F245V |
probably damaging |
Het |
| Trim30b |
T |
C |
7: 104,006,487 (GRCm39) |
E123G |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,606,390 (GRCm39) |
Y1323* |
probably null |
Het |
| Zfp2 |
T |
C |
11: 50,790,923 (GRCm39) |
I373M |
possibly damaging |
Het |
|
| Other mutations in Krt12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02968:Krt12
|
APN |
11 |
99,308,843 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATGTCACGCTACCATGG -3'
(R):5'- TCCATTGCTGTCTCTAGGAAC -3'
Sequencing Primer
(F):5'- GGAGTTCAATCTCTAGGTTCTGCAC -3'
(R):5'- TGCTGTCTCTAGGAACTCCAAAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation