Incidental Mutation 'IGL02666:Krt18'
ID302746
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt18
Ensembl Gene ENSMUSG00000023043
Gene Namekeratin 18
SynonymsEndo B, K18, CK18, Krt1-18
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02666
Quality Score
Status
Chromosome15
Chromosomal Location102028180-102032027 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102029867 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 175 (I175N)
Ref Sequence ENSEMBL: ENSMUSP00000023803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023803]
Predicted Effect probably damaging
Transcript: ENSMUST00000023803
AA Change: I175N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023803
Gene: ENSMUSG00000023043
AA Change: I175N

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
low complexity region 30 68 N/A INTRINSIC
Filament 71 384 3.69e-166 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KRT18 encodes the type I intermediate filament chain keratin 18. Keratin 18, together with its filament partner keratin 8, are perhaps the most commonly found members of the intermediate filament gene family. They are expressed in single layer epithelial tissues of the body. Mutations in this gene have been linked to cryptogenic cirrhosis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are viable, fertile, and live normal life spans. They do, however, develop hepatomegaly by 18 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,138,858 noncoding transcript Het
Abca15 G A 7: 120,335,208 V136M probably damaging Het
Abhd3 A G 18: 10,645,148 I382T probably benign Het
Cux1 C A 5: 136,275,315 E1336* probably null Het
Cyb5r3 T C 15: 83,160,353 I155V probably damaging Het
Ddx24 T C 12: 103,424,055 T226A possibly damaging Het
Diexf G A 1: 193,107,596 Q752* probably null Het
Dld T C 12: 31,332,409 N465S probably null Het
Dnmbp A G 19: 43,854,127 probably benign Het
Dock9 T C 14: 121,580,699 H1580R probably benign Het
Drd3 C A 16: 43,816,956 probably benign Het
Gabrb2 G T 11: 42,529,495 probably null Het
Gbp9 T C 5: 105,094,275 probably null Het
Inhba A T 13: 16,027,079 I409F possibly damaging Het
Iqgap2 T C 13: 95,628,056 N1560S probably damaging Het
Itsn1 A G 16: 91,820,718 probably benign Het
Kat6b T C 14: 21,628,870 F434L probably damaging Het
Klra1 A G 6: 130,364,315 C232R probably damaging Het
Lck A G 4: 129,556,419 V178A probably damaging Het
Mroh4 C A 15: 74,609,775 G737V probably benign Het
Mug2 A C 6: 122,081,326 L1282F probably damaging Het
Myo9a A G 9: 59,924,904 N2572S probably benign Het
Nup88 G T 11: 70,943,869 probably benign Het
Nxph3 G T 11: 95,511,008 H193Q possibly damaging Het
Olfr1447 G T 19: 12,900,857 H308N probably benign Het
Orm2 A G 4: 63,365,733 T198A possibly damaging Het
Pom121 T C 5: 135,386,832 I397V unknown Het
Prex1 C A 2: 166,572,989 E1313D probably benign Het
Prkg2 T A 5: 98,997,519 probably benign Het
Prl2a1 A T 13: 27,806,327 K86N possibly damaging Het
Ptpro G A 6: 137,378,059 S188N probably damaging Het
Ptprz1 A T 6: 23,001,210 I1100F probably benign Het
Ryr1 C A 7: 29,019,763 M4406I unknown Het
Sdf4 T A 4: 156,008,824 Y204* probably null Het
Serinc1 A T 10: 57,523,993 probably null Het
Slc39a5 C T 10: 128,398,455 R193H probably damaging Het
Smad9 A G 3: 54,782,467 K36R probably damaging Het
Spam1 T A 6: 24,796,124 L25I possibly damaging Het
Stab2 A T 10: 86,850,902 S809R possibly damaging Het
Szt2 G A 4: 118,374,055 R35C probably damaging Het
Tcaf2 C A 6: 42,629,124 probably benign Het
Tfap2d A C 1: 19,104,755 D144A probably benign Het
Tmprss11d A T 5: 86,331,193 V117D probably damaging Het
Tnxb A G 17: 34,684,939 D1141G probably benign Het
Traf6 A T 2: 101,697,167 T421S possibly damaging Het
Txndc16 G A 14: 45,211,150 probably benign Het
Vmn1r73 C A 7: 11,756,938 P228T probably damaging Het
Vmn2r4 A G 3: 64,389,012 I784T probably benign Het
Zfp420 A G 7: 29,874,370 D5G probably benign Het
Other mutations in Krt18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02656:Krt18 APN 15 102030922 missense probably benign 0.07
PIT4378001:Krt18 UTSW 15 102029923 missense probably benign 0.20
R0077:Krt18 UTSW 15 102030974 missense probably benign 0.01
R0650:Krt18 UTSW 15 102029485 missense possibly damaging 0.60
R0651:Krt18 UTSW 15 102029485 missense possibly damaging 0.60
R0947:Krt18 UTSW 15 102030728 missense possibly damaging 0.57
R1015:Krt18 UTSW 15 102031300 missense probably benign 0.00
R1219:Krt18 UTSW 15 102031288 splice site probably benign
R1328:Krt18 UTSW 15 102030734 missense probably benign 0.00
R2051:Krt18 UTSW 15 102029500 missense probably benign 0.19
R2082:Krt18 UTSW 15 102031020 splice site probably null
R3735:Krt18 UTSW 15 102028501 missense probably benign 0.39
R4696:Krt18 UTSW 15 102031858 missense probably benign 0.12
R5211:Krt18 UTSW 15 102031453 missense probably damaging 0.97
R5320:Krt18 UTSW 15 102028520 missense probably damaging 0.99
R5805:Krt18 UTSW 15 102031300 missense probably benign 0.40
R6736:Krt18 UTSW 15 102030769 missense probably benign 0.38
R7221:Krt18 UTSW 15 102029532 missense possibly damaging 0.66
R7543:Krt18 UTSW 15 102031461 missense probably damaging 0.99
X0064:Krt18 UTSW 15 102029962 missense probably damaging 0.99
Posted On2015-04-16