Incidental Mutation 'R5778:Krt8'
ID 446851
Institutional Source Beutler Lab
Gene Symbol Krt8
Ensembl Gene ENSMUSG00000049382
Gene Name keratin 8
Synonyms Krt-2.8, Krt2-8, cytokeratin 8, cytokeratin8, K8, EndoA, cytokeratin-8, Card2
MMRRC Submission 043376-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5778 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 101996698-102004482 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102003939 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 101 (I101V)
Ref Sequence ENSEMBL: ENSMUSP00000023952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023952]
AlphaFold P11679
Predicted Effect probably damaging
Transcript: ENSMUST00000023952
AA Change: I101V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023952
Gene: ENSMUSG00000049382
AA Change: I101V

Pfam:Keratin_2_head 1 93 9.4e-18 PFAM
Filament 96 407 7.82e-188 SMART
low complexity region 421 438 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230247
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele show partial background-sensitive embryonic lethality, placental defects, impaired female fertility, abnormal hematopoiesis, diarrhea, colorectal hyperplasia, anorectal prolapse, and high liver sensitivity to toxins, apoptotic stimuli and diet-induced steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A T 3: 36,958,714 (GRCm38) I1848F probably damaging Het
Acta1 A G 8: 123,892,125 (GRCm38) S340P probably benign Het
Anpep T C 7: 79,836,391 (GRCm38) T528A probably benign Het
Apob T A 12: 8,015,074 (GRCm38) D4014E probably benign Het
Atp23 A G 10: 126,899,582 (GRCm38) C78R probably damaging Het
Atp8b3 A G 10: 80,520,173 (GRCm38) F1235S probably benign Het
B3gnt3 T C 8: 71,692,938 (GRCm38) D262G probably benign Het
Brca1 G A 11: 101,525,301 (GRCm38) A669V possibly damaging Het
Caprin2 A T 6: 148,869,322 (GRCm38) S391R probably benign Het
Cdh15 G A 8: 122,856,587 (GRCm38) R43Q possibly damaging Het
Celsr1 A T 15: 86,032,955 (GRCm38) N272K probably damaging Het
Cryzl2 T G 1: 157,470,787 (GRCm38) S249A probably benign Het
Dsg1b A T 18: 20,409,222 (GRCm38) T929S possibly damaging Het
Dusp16 G T 6: 134,718,314 (GRCm38) T518N probably benign Het
Eno2 A T 6: 124,766,298 (GRCm38) H158Q probably damaging Het
Ep400 T C 5: 110,719,584 (GRCm38) D954G unknown Het
Erg28 T C 12: 85,819,480 (GRCm38) T75A possibly damaging Het
Fam135b T A 15: 71,479,032 (GRCm38) T332S probably damaging Het
Fam19a3 T A 3: 104,772,189 (GRCm38) K126N probably damaging Het
Fam221b A G 4: 43,660,683 (GRCm38) F357L probably damaging Het
Fcgr2b C T 1: 170,963,388 (GRCm38) G279R probably damaging Het
Fryl A T 5: 73,072,778 (GRCm38) L1679M probably damaging Het
Galm T A 17: 80,127,717 (GRCm38) M1K probably null Het
Gsg1 A T 6: 135,244,350 (GRCm38) I17N possibly damaging Het
Hif3a A T 7: 17,051,984 (GRCm38) I129N probably damaging Het
Ighv1-11 A T 12: 114,612,431 (GRCm38) W55R probably damaging Het
Ighv1-20 C A 12: 114,723,877 (GRCm38) K82N probably benign Het
Igsf21 C T 4: 140,037,521 (GRCm38) E148K probably benign Het
Iltifb C A 10: 118,294,863 (GRCm38) E43* probably null Het
Klhdc7b A T 15: 89,387,320 (GRCm38) R802W probably damaging Het
Lrrc7 A G 3: 158,170,743 (GRCm38) L570P probably damaging Het
Map4k1 C G 7: 28,994,221 (GRCm38) N412K probably benign Het
Metrnl A T 11: 121,714,738 (GRCm38) I118F possibly damaging Het
Mmp12 T A 9: 7,350,106 (GRCm38) D202E probably damaging Het
Mpp2 A T 11: 102,064,443 (GRCm38) S119T probably benign Het
Ncoa6 T C 2: 155,406,768 (GRCm38) T1539A probably benign Het
Nlrc5 A G 8: 94,479,526 (GRCm38) T715A possibly damaging Het
Nsd1 T A 13: 55,306,979 (GRCm38) N1963K probably damaging Het
Nsd3 T C 8: 25,659,818 (GRCm38) Y340H probably damaging Het
Nwd1 T A 8: 72,693,117 (GRCm38) S977T probably damaging Het
Olfr1167 T A 2: 88,149,617 (GRCm38) Y134F probably damaging Het
Olfr77 G T 9: 19,921,041 (GRCm38) M277I probably benign Het
Pcdh8 T C 14: 79,770,757 (GRCm38) E122G probably damaging Het
Pcmtd2 A C 2: 181,855,198 (GRCm38) T323P probably benign Het
Pign C A 1: 105,591,722 (GRCm38) G492C probably damaging Het
Plppr3 A G 10: 79,866,503 (GRCm38) V245A possibly damaging Het
Prl7a2 C T 13: 27,661,000 (GRCm38) W134* probably null Het
Prom1 A T 5: 44,007,047 (GRCm38) N722K probably benign Het
Rasal2 A T 1: 157,161,290 (GRCm38) N663K probably damaging Het
Rgl1 G T 1: 152,552,421 (GRCm38) H315Q probably benign Het
Smpdl3a C A 10: 57,801,001 (GRCm38) A65E probably damaging Het
Spdye4b G A 5: 143,202,387 (GRCm38) D212N probably damaging Het
Tanc1 G T 2: 59,699,347 (GRCm38) probably null Het
Trio A G 15: 27,856,164 (GRCm38) V706A probably benign Het
Tshz1 T A 18: 84,015,680 (GRCm38) Q201L probably damaging Het
Ubqln1 C T 13: 58,183,317 (GRCm38) M365I probably benign Het
Usp42 A T 5: 143,719,576 (GRCm38) Y383N probably damaging Het
Vmn1r189 A G 13: 22,102,382 (GRCm38) I95T probably damaging Het
Vmn2r49 A T 7: 9,976,347 (GRCm38) S819R probably damaging Het
Other mutations in Krt8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Krt8 APN 15 101,998,025 (GRCm38) missense probably benign
IGL01643:Krt8 APN 15 101,997,073 (GRCm38) missense possibly damaging 0.64
IGL01966:Krt8 APN 15 101,997,670 (GRCm38) missense probably benign 0.08
IGL02587:Krt8 APN 15 101,998,932 (GRCm38) missense probably benign 0.04
IGL03088:Krt8 APN 15 102,000,587 (GRCm38) missense possibly damaging 0.90
R0531:Krt8 UTSW 15 102,001,448 (GRCm38) missense probably benign 0.12
R1451:Krt8 UTSW 15 101,998,829 (GRCm38) missense possibly damaging 0.93
R2258:Krt8 UTSW 15 101,998,822 (GRCm38) missense probably benign
R2348:Krt8 UTSW 15 101,998,865 (GRCm38) missense probably benign 0.31
R2566:Krt8 UTSW 15 101,998,024 (GRCm38) missense probably benign 0.03
R3796:Krt8 UTSW 15 101,999,442 (GRCm38) missense probably benign 0.00
R4834:Krt8 UTSW 15 101,998,821 (GRCm38) missense probably damaging 1.00
R4965:Krt8 UTSW 15 101,996,951 (GRCm38) missense probably benign
R5212:Krt8 UTSW 15 101,997,967 (GRCm38) missense possibly damaging 0.52
R5249:Krt8 UTSW 15 101,998,440 (GRCm38) missense possibly damaging 0.69
R5419:Krt8 UTSW 15 102,003,902 (GRCm38) missense probably damaging 0.98
R5997:Krt8 UTSW 15 102,000,594 (GRCm38) missense possibly damaging 0.77
R6503:Krt8 UTSW 15 101,997,934 (GRCm38) missense possibly damaging 0.66
R6683:Krt8 UTSW 15 101,998,004 (GRCm38) missense probably benign
R6812:Krt8 UTSW 15 101,997,979 (GRCm38) missense probably damaging 0.99
R6824:Krt8 UTSW 15 101,998,440 (GRCm38) missense possibly damaging 0.50
R6875:Krt8 UTSW 15 101,997,908 (GRCm38) missense probably benign 0.44
R7650:Krt8 UTSW 15 102,004,163 (GRCm38) missense probably benign 0.07
R8047:Krt8 UTSW 15 102,003,971 (GRCm38) missense probably damaging 0.99
R8559:Krt8 UTSW 15 102,001,544 (GRCm38) missense probably benign 0.03
R8826:Krt8 UTSW 15 102,001,435 (GRCm38) missense possibly damaging 0.89
R9146:Krt8 UTSW 15 101,998,935 (GRCm38) missense probably damaging 0.98
R9565:Krt8 UTSW 15 102,004,025 (GRCm38) missense probably benign 0.26
Z1177:Krt8 UTSW 15 101,999,435 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-12-15