Incidental Mutation 'R0077:Krt18'
ID19511
Institutional Source Beutler Lab
Gene Symbol Krt18
Ensembl Gene ENSMUSG00000023043
Gene Namekeratin 18
SynonymsEndo B, K18, CK18, Krt1-18
MMRRC Submission 038364-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0077 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location102028180-102032027 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 102030974 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 294 (R294L)
Ref Sequence ENSEMBL: ENSMUSP00000023803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023803]
Predicted Effect probably benign
Transcript: ENSMUST00000023803
AA Change: R294L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000023803
Gene: ENSMUSG00000023043
AA Change: R294L

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
Meta Mutation Damage Score 0.262 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.4%
  • 20x: 90.5%
Validation Efficiency 83% (159/192)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T C 5: 81,771,685 probably benign Het
Adgrl4 A G 3: 151,517,781 I624V probably damaging Het
AI661453 A G 17: 47,469,362 probably benign Het
Alg12 C T 15: 88,815,978 E60K probably damaging Het
Angel2 A T 1: 190,933,087 N72Y possibly damaging Het
Ank1 C A 8: 23,140,167 P81Q probably damaging Het
Atp6v1c2 A T 12: 17,321,612 D61E probably damaging Het
Bpi T A 2: 158,261,334 M83K probably damaging Het
Capn7 A G 14: 31,368,115 I642V probably benign Het
Ccdc134 T C 15: 82,131,737 probably benign Het
Ccr3 C T 9: 124,029,024 T132I probably damaging Het
Cfap65 C A 1: 74,931,918 W80C probably damaging Het
Chaf1a T A 17: 56,047,384 I218K unknown Het
Ddx23 A G 15: 98,656,600 probably null Het
Dmkn A G 7: 30,765,294 S231G probably benign Het
Ep300 T C 15: 81,641,313 I1446T unknown Het
Fmnl1 T C 11: 103,189,969 F318S probably damaging Het
Grik5 A T 7: 25,023,380 V497E probably damaging Het
Gtf2ird2 T C 5: 134,214,083 Y380H probably damaging Het
Hecw2 C T 1: 53,868,831 probably benign Het
Hspb7 A G 4: 141,424,047 I167V probably damaging Het
Kcnh2 T A 5: 24,322,702 N884I probably benign Het
Krba1 T C 6: 48,405,225 probably benign Het
Lctl T A 9: 64,122,107 M1K probably null Het
Lingo2 G A 4: 35,708,375 S535F possibly damaging Het
Lrba A C 3: 86,542,688 N2105H probably damaging Het
Lrrc10 A G 10: 117,045,514 D31G probably damaging Het
Lrrtm1 T A 6: 77,243,872 V104E probably damaging Het
Mgat3 C T 15: 80,212,577 T535I probably benign Het
Nav3 T C 10: 109,716,642 I1780V possibly damaging Het
Nlrc4 A G 17: 74,446,831 W186R probably damaging Het
Nr2c1 T A 10: 94,188,255 F441I probably benign Het
Obscn A G 11: 59,051,521 probably benign Het
Olfr221 T C 14: 52,035,985 N42S possibly damaging Het
Olfr444 T C 6: 42,955,773 S92P probably benign Het
Olfr59 T C 11: 74,288,675 F10L probably benign Het
Olfr688 T C 7: 105,288,519 V142A probably damaging Het
Osr1 A T 12: 9,579,691 Y188F probably damaging Het
Pak2 A T 16: 32,033,843 N293K possibly damaging Het
Pappa A T 4: 65,307,812 T1301S probably damaging Het
Pde4dip G A 3: 97,753,126 Q679* probably null Het
Pik3r5 T A 11: 68,486,622 probably null Het
Plbd2 C T 5: 120,486,039 probably null Het
Ppp1r3a G T 6: 14,754,517 P244T possibly damaging Het
Pum1 C A 4: 130,772,674 R960S probably benign Het
Ralgapb T C 2: 158,473,249 Y845H probably damaging Het
Rbms1 A T 2: 60,758,835 M287K possibly damaging Het
Rdh1 A T 10: 127,760,037 I34F probably damaging Het
Rgl3 T A 9: 21,974,102 Q644L probably benign Het
Rpap2 T C 5: 107,620,474 S393P probably damaging Het
Rsad2 T C 12: 26,456,377 S15G probably damaging Het
Rspo1 G A 4: 124,991,397 R22Q probably benign Het
S100a11 A C 3: 93,524,202 probably null Het
Sept4 T C 11: 87,581,196 S11P probably benign Het
Serpina1c T C 12: 103,896,091 S322G probably benign Het
Setdb1 A T 3: 95,341,451 C385S probably damaging Het
Shank2 A T 7: 144,192,467 I193F possibly damaging Het
Slc4a11 G T 2: 130,686,301 probably benign Het
Snrnp40 C G 4: 130,378,043 probably null Het
Tbcd C A 11: 121,594,274 Q761K probably benign Het
Tmed6 C T 8: 107,065,566 V16M probably damaging Het
Tmem229a T C 6: 24,955,702 T18A probably benign Het
Tsc1 T A 2: 28,678,943 probably benign Het
Ube2m T C 7: 13,035,730 N49D probably damaging Het
Ubqlnl T C 7: 104,150,047 D81G probably damaging Het
Vmn2r56 A G 7: 12,715,405 V302A probably benign Het
Vmn2r73 T A 7: 85,875,867 R24S probably benign Het
Wfs1 C A 5: 36,973,194 S236I probably damaging Het
Xpot A T 10: 121,605,639 N560K probably benign Het
Yipf3 A G 17: 46,251,577 T303A probably benign Het
Zfp790 T C 7: 29,824,875 W19R probably damaging Het
Zfp846 T C 9: 20,594,007 C388R probably benign Het
Zpr1 T A 9: 46,273,336 I47N probably damaging Het
Other mutations in Krt18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02656:Krt18 APN 15 102030922 missense probably benign 0.07
IGL02666:Krt18 APN 15 102029867 missense probably damaging 1.00
PIT4378001:Krt18 UTSW 15 102029923 missense probably benign 0.20
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
Predicted Primers PCR Primer
(F):5'- CCACTCCGCTTAAGGTAAGCTCTG -3'
(R):5'- CCGAGGCTGTTCTCCAAGTTGATG -3'

Sequencing Primer
(F):5'- CTTAAGGTAAGCTCTGTGTGAAG -3'
(R):5'- GAGAGTGAGTCTCTACTCTTAGCC -3'
Posted On2013-04-11