Incidental Mutation 'IGL02656:Krt18'
ID302348
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 #IGL02656
Quality Score
Status
Chromosome15
Chromosomal Location102028180-102032027 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 102030922 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 277 (T277A)
Ref Sequence ENSEMBL: ENSMUSP00000023803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023803]
Predicted Effect probably benign
Transcript: ENSMUST00000023803
AA Change: T277A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023803
Gene: ENSMUSG00000023043
AA Change: T277A

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 G T 14: 31,702,240 A981D possibly damaging Het
Ccdc69 G T 11: 55,052,437 Q114K possibly damaging Het
Cct5 A T 15: 31,597,430 D66E probably damaging Het
Ces2e G T 8: 104,927,056 R42I possibly damaging Het
Cib2 T G 9: 54,545,898 D178A probably damaging Het
Cldn7 G A 11: 69,967,008 V97I probably benign Het
Dok3 A T 13: 55,528,480 I12N probably damaging Het
Fndc5 T A 4: 129,139,446 V102E probably damaging Het
Gas2 T C 7: 51,943,744 S191P probably benign Het
Herc6 T A 6: 57,611,836 probably null Het
Mpp3 A G 11: 102,008,601 S365P probably benign Het
Msmo1 T C 8: 64,727,872 T3A probably benign Het
Olfr1509 G T 14: 52,450,709 A99S possibly damaging Het
Olfr1537 T A 9: 39,238,160 E88V probably benign Het
Olfr394 A G 11: 73,888,039 F111S probably damaging Het
Pex19 C A 1: 172,130,685 A77E probably benign Het
Phf20l1 A G 15: 66,629,827 D620G probably damaging Het
Prr5 A G 15: 84,699,136 D105G probably damaging Het
Rab12 T A 17: 66,506,054 K88M probably damaging Het
Rictor T C 15: 6,776,920 V673A probably damaging Het
Rps26 A G 10: 128,625,257 S88P possibly damaging Het
Sema5a T A 15: 32,631,285 S605T possibly damaging Het
Slc35a4 T C 18: 36,682,447 M110T probably damaging Het
Sowahb T C 5: 93,043,247 S538G probably benign Het
Srrt T A 5: 137,299,676 probably benign Het
Ssbp2 G A 13: 91,669,752 probably benign Het
Supt20 C T 3: 54,708,395 R236W probably damaging Het
Tenm4 A G 7: 96,885,433 D1791G probably damaging Het
Tgm6 G A 2: 130,145,103 G497D probably damaging Het
Trim12c C T 7: 104,341,203 V356I probably damaging Het
Vwce T A 19: 10,664,352 I814K probably benign Het
Other mutations in Krt18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02666:Krt18 APN 15 102029867 missense probably damaging 1.00
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
R7873:Krt18 UTSW 15 102030956 missense probably benign 0.06
R7883:Krt18 UTSW 15 102028450 missense possibly damaging 0.63
X0064:Krt18 UTSW 15 102029962 missense probably damaging 0.99
Posted On2015-04-16