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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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