Incidental Mutation 'IGL03331:Krt20'
ID416885
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt20
Ensembl Gene ENSMUSG00000035775
Gene Namekeratin 20
SynonymsCK20, 9030623C06Rik, cytokeratin 20
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL03331
Quality Score
Status
Chromosome11
Chromosomal Location99428403-99438150 bp(-) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) T to C at 99435430 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000017743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017743] [ENSMUST00000017743]
Predicted Effect probably null
Transcript: ENSMUST00000017743
SMART Domains Protein: ENSMUSP00000017743
Gene: ENSMUSG00000035775

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
Filament 76 387 7.19e-146 SMART
low complexity region 410 431 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000017743
SMART Domains Protein: ENSMUSP00000017743
Gene: ENSMUSG00000035775

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
Filament 76 387 7.19e-146 SMART
low complexity region 410 431 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the keratin protein family and is found within a cluster of cytokeratin genes on chromosome 11. Keratins are cytoskeletal proteins that are preferentially expressed in epithelial cells. The encoded protein may help maintain intermediate filament organization in intestinal epithelium. Phosphorylation of this protein may also influence mucin secretion in the small intestine. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 C A 14: 78,513,865 D361Y probably damaging Het
Arhgap10 T C 8: 77,420,082 N231S probably damaging Het
Asb15 A T 6: 24,556,524 D6V possibly damaging Het
C1qb G A 4: 136,880,293 A253V probably damaging Het
Ccdc178 G T 18: 21,811,583 probably null Het
Chst15 A G 7: 132,262,713 L387P probably damaging Het
Clca3b T A 3: 144,827,963 E550D probably benign Het
Dnah5 A G 15: 28,419,940 K3795E probably damaging Het
Dppa2 T C 16: 48,313,879 probably benign Het
Epb41l5 T C 1: 119,617,419 Y220C probably damaging Het
Fkbpl C T 17: 34,645,687 T143I probably damaging Het
Gbe1 T G 16: 70,433,578 Y155D probably damaging Het
Gm1979 T C 5: 26,002,010 K69R probably damaging Het
Gna14 G A 19: 16,609,468 V336M probably damaging Het
Gpr37 A G 6: 25,669,729 V372A probably benign Het
Herc2 C A 7: 56,135,267 probably benign Het
Hist1h2bk T C 13: 22,036,273 probably benign Het
Lman1 T C 18: 65,993,204 T284A probably benign Het
Matn2 A T 15: 34,345,357 D170V probably damaging Het
Morc1 C A 16: 48,612,368 probably benign Het
Necap1 T A 6: 122,880,417 S34T probably benign Het
Nt5c3b T C 11: 100,436,215 Y85C probably damaging Het
Olfr1454 T A 19: 13,063,867 L152H probably damaging Het
Olfr720 C A 14: 14,176,017 A22S probably benign Het
Papln A G 12: 83,783,661 M1016V probably benign Het
Pld1 T C 3: 28,085,845 F605L probably damaging Het
Rbms2 T A 10: 128,133,635 probably benign Het
Rps6kb1 A T 11: 86,532,830 V108E probably damaging Het
Scap T C 9: 110,380,236 probably null Het
Serpina1f T C 12: 103,690,891 I307M probably benign Het
Tchh A G 3: 93,443,418 D55G probably damaging Het
Tnfaip3 G T 10: 19,011,601 Q59K possibly damaging Het
Vcan A G 13: 89,661,932 C2287R probably damaging Het
Vmn2r6 T C 3: 64,538,007 N766D probably damaging Het
Other mutations in Krt20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01455:Krt20 APN 11 99431943 missense probably benign 0.01
IGL01926:Krt20 APN 11 99437826 missense probably damaging 1.00
IGL02105:Krt20 APN 11 99438001 missense probably benign 0.01
IGL03225:Krt20 APN 11 99431930 missense probably damaging 0.97
IGL03274:Krt20 APN 11 99430029 splice site probably benign
R0091:Krt20 UTSW 11 99437814 missense probably damaging 1.00
R0446:Krt20 UTSW 11 99437776 nonsense probably null
R3955:Krt20 UTSW 11 99432211 nonsense probably null
R4805:Krt20 UTSW 11 99428985 missense unknown
R5156:Krt20 UTSW 11 99430053 missense possibly damaging 0.92
R5620:Krt20 UTSW 11 99435457 missense probably damaging 1.00
R6716:Krt20 UTSW 11 99431928 missense possibly damaging 0.77
R7006:Krt20 UTSW 11 99437761 missense probably benign 0.34
R8041:Krt20 UTSW 11 99437837 missense probably damaging 1.00
Posted On2016-08-02