Incidental Mutation 'R4061:Krt12'
| ID |
315873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt12
|
| Ensembl Gene |
ENSMUSG00000020912 |
| Gene Name |
keratin 12 |
| Synonyms |
K12, Krt1-12 |
| MMRRC Submission |
040852-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R4061 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99306492-99313085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 99306841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 487
(M487K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017741]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000017741
AA Change: M487K
|
| SMART Domains |
Protein: ENSMUSP00000017741
Gene: ENSMUSG00000020912
AA Change: M487K
| 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 |
0.1859 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
94% (51/54) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
| Adam25 |
A |
G |
8: 41,206,819 (GRCm39) |
I28M |
possibly damaging |
Het |
| Anks1b |
A |
G |
10: 90,143,484 (GRCm39) |
S464G |
probably damaging |
Het |
| AU040320 |
T |
A |
4: 126,729,488 (GRCm39) |
M550K |
probably damaging |
Het |
| Cab39l |
A |
G |
14: 59,737,056 (GRCm39) |
K59E |
possibly damaging |
Het |
| Cdc5l |
C |
T |
17: 45,721,816 (GRCm39) |
A485T |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 15,995,158 (GRCm39) |
S2626P |
probably benign |
Het |
| Ctss |
C |
T |
3: 95,450,345 (GRCm39) |
R99W |
probably benign |
Het |
| Deptor |
A |
T |
15: 55,072,177 (GRCm39) |
M219L |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,869,264 (GRCm39) |
V1052A |
probably damaging |
Het |
| Esyt3 |
C |
T |
9: 99,202,891 (GRCm39) |
S504N |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
| Folh1 |
T |
A |
7: 86,406,170 (GRCm39) |
Y301F |
possibly damaging |
Het |
| Gm14443 |
G |
A |
2: 175,011,402 (GRCm39) |
T348I |
probably benign |
Het |
| Gtpbp2 |
G |
A |
17: 46,478,253 (GRCm39) |
R467H |
probably damaging |
Het |
| Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
| Iars2 |
A |
T |
1: 185,035,583 (GRCm39) |
H552Q |
possibly damaging |
Het |
| Il18r1 |
G |
A |
1: 40,514,096 (GRCm39) |
V101I |
probably benign |
Het |
| Impdh2 |
A |
G |
9: 108,440,003 (GRCm39) |
R182G |
possibly damaging |
Het |
| Lmln |
C |
A |
16: 32,886,761 (GRCm39) |
Y89* |
probably null |
Het |
| Lrrc38 |
T |
A |
4: 143,077,076 (GRCm39) |
L113Q |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,364,867 (GRCm39) |
D1947G |
possibly damaging |
Het |
| Myh13 |
A |
T |
11: 67,221,715 (GRCm39) |
I177F |
possibly damaging |
Het |
| Nfasc |
T |
C |
1: 132,525,583 (GRCm39) |
Y904C |
probably damaging |
Het |
| Obscn |
G |
A |
11: 58,899,358 (GRCm39) |
P1000S |
probably damaging |
Het |
| Or52n4 |
T |
A |
7: 104,293,680 (GRCm39) |
K298* |
probably null |
Het |
| Or5t7 |
T |
A |
2: 86,507,162 (GRCm39) |
I172F |
probably damaging |
Het |
| Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,590,580 (GRCm39) |
E960G |
unknown |
Het |
| Plagl1 |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
10: 13,004,515 (GRCm39) |
|
probably benign |
Het |
| Prl7a1 |
T |
C |
13: 27,819,832 (GRCm39) |
I141V |
possibly damaging |
Het |
| Ptpn18 |
A |
T |
1: 34,512,011 (GRCm39) |
H45L |
possibly damaging |
Het |
| Sbno1 |
A |
T |
5: 124,526,635 (GRCm39) |
M960K |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,846,937 (GRCm39) |
S67R |
probably benign |
Het |
| Spata18 |
A |
G |
5: 73,828,509 (GRCm39) |
K243E |
probably damaging |
Het |
| Tcp1 |
A |
G |
17: 13,139,750 (GRCm39) |
Q265R |
probably benign |
Het |
| Tec |
C |
T |
5: 72,980,752 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
A |
G |
13: 92,912,605 (GRCm39) |
|
probably null |
Het |
| Tln1 |
T |
A |
4: 43,549,177 (GRCm39) |
Q635L |
probably damaging |
Het |
| Tshz2 |
A |
G |
2: 169,804,245 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
T |
C |
1: 169,986,415 (GRCm39) |
E189G |
possibly damaging |
Het |
| Usp21 |
G |
A |
1: 171,112,974 (GRCm39) |
|
probably benign |
Het |
| Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,832 (GRCm39) |
C95S |
possibly damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,058 (GRCm39) |
N168K |
possibly damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,221,898 (GRCm39) |
E774V |
probably 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 |
|
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 |
|
|
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'- CCCAGGAAGGTGTAAGGTGATC -3'
(R):5'- AACCTTGGGTTGATAACTGCTTAG -3'
Sequencing Primer
(F):5'- TCTGGGGTTGCAATGAAGACC -3'
(R):5'- GAAAAATCAAGACAGTCGTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation