Incidental Mutation 'R4867:Krt12'
ID376258
Institutional Source Beutler Lab
Gene Symbol Krt12
Ensembl Gene ENSMUSG00000020912
Gene Namekeratin 12
SynonymsK12, Krt1-12
MMRRC Submission 042477-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #R4867 (G1)
Quality Score225
Status Not validated
Chromosome11
Chromosomal Location99415666-99422259 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99416963 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 433 (D433G)
Ref Sequence ENSEMBL: ENSMUSP00000017741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017741]
Predicted Effect possibly damaging
Transcript: ENSMUST00000017741
AA Change: D433G

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000017741
Gene: ENSMUSG00000020912
AA Change: D433G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik T C 8: 124,639,360 I215V probably damaging Het
4921509C19Rik A T 2: 151,472,822 L312* probably null Het
9930111J21Rik1 T A 11: 48,948,548 probably null Het
Abca6 C A 11: 110,202,379 V1023F probably benign Het
Ablim2 C T 5: 35,802,422 R73C possibly damaging Het
Acsbg2 A G 17: 56,862,914 I151T possibly damaging Het
Arhgap8 G T 15: 84,740,766 L46F probably benign Het
Arid1a G A 4: 133,720,857 S115L probably benign Het
B4galnt2 T C 11: 95,868,426 D344G probably damaging Het
BC005561 T C 5: 104,521,002 I1130T possibly damaging Het
Ccdc40 T C 11: 119,231,788 S139P probably benign Het
Ccnjl T C 11: 43,583,228 V210A possibly damaging Het
Cdk5rap1 C T 2: 154,370,956 probably null Het
Cog4 T C 8: 110,866,610 V451A probably damaging Het
Crb1 A T 1: 139,243,014 N818K probably damaging Het
Crtc1 T C 8: 70,402,514 D152G probably damaging Het
Cse1l T A 2: 166,926,403 I207N possibly damaging Het
Cux1 TGGCAGGCGCG TG 5: 136,274,961 probably benign Het
Cyp2j13 T C 4: 96,058,998 Y272C possibly damaging Het
Cyp4f16 T C 17: 32,550,750 F445L possibly damaging Het
Dlc1 T C 8: 36,584,645 H644R probably benign Het
Ecm2 A T 13: 49,531,345 I643F probably damaging Het
Eogt A T 6: 97,120,147 probably benign Het
Fbxo41 A C 6: 85,475,194 S777A probably benign Het
Fga T A 3: 83,028,644 D59E probably benign Het
Flt3 A T 5: 147,334,440 V897D probably damaging Het
Fmn1 G T 2: 113,584,120 probably null Het
Frem3 T C 8: 80,613,283 L735P probably damaging Het
Ftmt A T 18: 52,332,053 D147V possibly damaging Het
Gabpa T A 16: 84,857,468 D344E probably benign Het
Gm4788 A T 1: 139,774,475 probably null Het
Gtf3a C T 5: 146,951,913 Q145* probably null Het
Il1f5 A T 2: 24,280,835 N48I probably damaging Het
Iqca A G 1: 90,089,504 L403S probably benign Het
Jrk C T 15: 74,707,220 R72Q probably benign Het
Kif19a G A 11: 114,767,227 M37I probably benign Het
Lce1h A T 3: 92,763,463 S127R unknown Het
Lrrc7 T G 3: 158,161,005 Y1033S probably damaging Het
Macf1 A G 4: 123,472,200 S1358P probably damaging Het
Mfsd1 T A 3: 67,587,987 probably null Het
Mki67 T C 7: 135,699,856 T1150A probably damaging Het
Nadk2 A G 15: 9,098,857 I291M possibly damaging Het
Olfr309 T C 7: 86,306,283 T277A probably benign Het
Olfr340 A C 2: 36,453,199 M205L probably benign Het
Olfr456 A G 6: 42,487,097 V32A probably benign Het
Olfr49 T A 14: 54,282,629 T89S probably benign Het
Olfr829 A T 9: 18,857,566 I305F probably benign Het
Parp14 T A 16: 35,857,327 Y757F probably benign Het
Pcdh18 T C 3: 49,754,664 Y734C probably damaging Het
Pcnx4 T C 12: 72,573,952 S849P probably benign Het
Pds5a T C 5: 65,644,120 K595E probably damaging Het
Prkg2 T A 5: 99,024,709 Y49F probably benign Het
Ptgdr G T 14: 44,858,796 P153Q probably damaging Het
Rbm12b2 T C 4: 12,094,805 S555P probably damaging Het
Rhog T G 7: 102,240,150 Y32S probably damaging Het
Rnf141 T C 7: 110,816,768 T209A probably damaging Het
Rtkn2 T C 10: 68,001,927 I103T probably damaging Het
Scn5a G T 9: 119,550,671 C182* probably null Het
Sema3a A G 5: 13,451,241 N84D probably benign Het
Sema5a G T 15: 32,550,290 M158I possibly damaging Het
Shprh T A 10: 11,164,557 D71E probably benign Het
Slc26a8 A G 17: 28,663,634 I239T probably benign Het
Slco4c1 G A 1: 96,841,228 P303L probably damaging Het
Ston1 C T 17: 88,635,694 A176V probably damaging Het
Sult2a5 T C 7: 13,624,051 S3P probably benign Het
Tango6 T A 8: 106,818,526 V1007E probably damaging Het
Tank G A 2: 61,578,635 probably benign Het
Tas2r124 A G 6: 132,755,193 Y155C probably damaging Het
Tenm3 G A 8: 48,235,821 R2244W probably damaging Het
Tlk1 A T 2: 70,721,571 Y585* probably null Het
Tmem221 C T 8: 71,555,140 E214K probably benign Het
Tmem38a T C 8: 72,581,233 V172A possibly damaging Het
Tspo2 C T 17: 48,448,677 A146T possibly damaging Het
Ttc3 G A 16: 94,454,515 A1268T probably damaging Het
Usp25 T A 16: 77,050,467 D154E probably damaging Het
Usp34 T C 11: 23,451,999 F2410L probably benign Het
Vmn1r128 T A 7: 21,350,014 H214Q possibly damaging Het
Vmn1r24 A C 6: 57,956,436 C32W probably damaging Het
Zfp931 T A 2: 178,068,062 H177L probably damaging Het
Znrf1 T C 8: 111,537,566 probably null Het
Other mutations in Krt12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02968:Krt12 APN 11 99418017 missense probably damaging 0.98
R0348:Krt12 UTSW 11 99417945 missense probably damaging 1.00
R1104:Krt12 UTSW 11 99421966 missense unknown
R1662:Krt12 UTSW 11 99420824 missense probably benign 0.42
R1763:Krt12 UTSW 11 99416060 missense probably damaging 1.00
R1886:Krt12 UTSW 11 99418576 missense probably damaging 1.00
R2087:Krt12 UTSW 11 99418633 missense probably damaging 0.98
R3859:Krt12 UTSW 11 99418493 missense possibly damaging 0.90
R3942:Krt12 UTSW 11 99422096 missense unknown
R4030:Krt12 UTSW 11 99422028 missense unknown
R4061:Krt12 UTSW 11 99416015 missense unknown
R4672:Krt12 UTSW 11 99418683 intron probably benign
R4907:Krt12 UTSW 11 99418362 missense probably damaging 1.00
R5592:Krt12 UTSW 11 99420824 missense probably benign 0.00
R6276:Krt12 UTSW 11 99421902 nonsense probably null
R6326:Krt12 UTSW 11 99416919 missense probably benign
R7108:Krt12 UTSW 11 99416052 missense unknown
R7144:Krt12 UTSW 11 99416013 makesense probably null
R7524:Krt12 UTSW 11 99419659 missense probably damaging 1.00
X0026:Krt12 UTSW 11 99419584 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCAGTGTGTTTGAGCAGAG -3'
(R):5'- TGGATGAAAATCTGTGCTGACC -3'

Sequencing Primer
(F):5'- TTGAGCAGAGATATGTCCCCTGC -3'
(R):5'- AATCTGTGCTGACCCAATTAGC -3'
Posted On2016-03-17