Incidental Mutation 'R3796:Krt8'
ID 272777
Institutional Source Beutler Lab
Gene Symbol Krt8
Ensembl Gene ENSMUSG00000049382
Gene Name keratin 8
Synonyms cytokeratin-8, Card2, Krt2-8, K8, cytokeratin8, cytokeratin 8, EndoA, Krt-2.8
MMRRC Submission 040757-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3796 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 101905146-101912777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101907877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 233 (I233V)
Ref Sequence ENSEMBL: ENSMUSP00000023952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023952]
AlphaFold P11679
Predicted Effect probably benign
Transcript: ENSMUST00000023952
AA Change: I233V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023952
Gene: ENSMUSG00000049382
AA Change: I233V

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (40/40)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,489,662 (GRCm39) probably null Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Alppl2 A G 1: 87,016,076 (GRCm39) probably null Het
Armh3 A G 19: 45,910,049 (GRCm39) probably benign Het
Basp1 C A 15: 25,364,398 (GRCm39) probably benign Het
Clec14a G A 12: 58,314,695 (GRCm39) A309V probably benign Het
Clk2 A G 3: 89,082,996 (GRCm39) N424S probably benign Het
Cops7a C T 6: 124,936,795 (GRCm39) R252H probably damaging Het
Csmd2 C T 4: 128,411,388 (GRCm39) P2469S probably benign Het
Cwf19l1 A G 19: 44,103,006 (GRCm39) V403A probably damaging Het
Dnajc16 G T 4: 141,495,048 (GRCm39) D521E probably benign Het
Dnm2 T C 9: 21,416,783 (GRCm39) V772A probably benign Het
Dst G T 1: 34,220,996 (GRCm39) V2267F probably benign Het
Eif3d A G 15: 77,852,769 (GRCm39) F4S probably damaging Het
Fgfr1 G A 8: 26,062,453 (GRCm39) D663N probably damaging Het
Hmcn1 A G 1: 150,462,169 (GRCm39) Y5170H probably damaging Het
Kcna2 T A 3: 107,012,906 (GRCm39) L496I probably benign Het
Mfap1b A G 2: 121,304,386 (GRCm39) V3A probably benign Het
Phrf1 C T 7: 140,839,831 (GRCm39) R243* probably null Het
Plbd2 A T 5: 120,630,933 (GRCm39) I224N probably damaging Het
Rab19 T C 6: 39,360,975 (GRCm39) V41A probably benign Het
Rrm1 T A 7: 102,114,910 (GRCm39) probably null Het
Sacs T C 14: 61,443,570 (GRCm39) V1872A possibly damaging Het
Setd2 T C 9: 110,378,639 (GRCm39) V818A probably benign Het
Shprh C T 10: 11,054,501 (GRCm39) L1037F possibly damaging Het
Slc24a3 A G 2: 145,458,601 (GRCm39) D527G probably damaging Het
Slc27a6 T C 18: 58,731,823 (GRCm39) probably benign Het
Slc35g3 A G 11: 69,651,743 (GRCm39) F103L probably benign Het
Slc5a1 A G 5: 33,309,996 (GRCm39) D408G probably damaging Het
Spag6l A T 16: 16,580,916 (GRCm39) I477N probably damaging Het
Srgap1 A G 10: 121,883,037 (GRCm39) V21A probably benign Het
Trim7 A G 11: 48,736,497 (GRCm39) probably null Het
Trpa1 T C 1: 14,963,488 (GRCm39) N578S possibly damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Zfp518a G T 19: 40,903,754 (GRCm39) V1228F probably damaging Het
Other mutations in Krt8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Krt8 APN 15 101,906,460 (GRCm39) missense probably benign
IGL01643:Krt8 APN 15 101,905,508 (GRCm39) missense possibly damaging 0.64
IGL01966:Krt8 APN 15 101,906,105 (GRCm39) missense probably benign 0.08
IGL02587:Krt8 APN 15 101,907,367 (GRCm39) missense probably benign 0.04
IGL03088:Krt8 APN 15 101,909,022 (GRCm39) missense possibly damaging 0.90
R0531:Krt8 UTSW 15 101,909,883 (GRCm39) missense probably benign 0.12
R1451:Krt8 UTSW 15 101,907,264 (GRCm39) missense possibly damaging 0.93
R2258:Krt8 UTSW 15 101,907,257 (GRCm39) missense probably benign
R2348:Krt8 UTSW 15 101,907,300 (GRCm39) missense probably benign 0.31
R2566:Krt8 UTSW 15 101,906,459 (GRCm39) missense probably benign 0.03
R4834:Krt8 UTSW 15 101,907,256 (GRCm39) missense probably damaging 1.00
R4965:Krt8 UTSW 15 101,905,386 (GRCm39) missense probably benign
R5212:Krt8 UTSW 15 101,906,402 (GRCm39) missense possibly damaging 0.52
R5249:Krt8 UTSW 15 101,906,875 (GRCm39) missense possibly damaging 0.69
R5419:Krt8 UTSW 15 101,912,337 (GRCm39) missense probably damaging 0.98
R5778:Krt8 UTSW 15 101,912,374 (GRCm39) missense probably damaging 0.99
R5997:Krt8 UTSW 15 101,909,029 (GRCm39) missense possibly damaging 0.77
R6503:Krt8 UTSW 15 101,906,369 (GRCm39) missense possibly damaging 0.66
R6683:Krt8 UTSW 15 101,906,439 (GRCm39) missense probably benign
R6812:Krt8 UTSW 15 101,906,414 (GRCm39) missense probably damaging 0.99
R6824:Krt8 UTSW 15 101,906,875 (GRCm39) missense possibly damaging 0.50
R6875:Krt8 UTSW 15 101,906,343 (GRCm39) missense probably benign 0.44
R7650:Krt8 UTSW 15 101,912,598 (GRCm39) missense probably benign 0.07
R8047:Krt8 UTSW 15 101,912,406 (GRCm39) missense probably damaging 0.99
R8559:Krt8 UTSW 15 101,909,979 (GRCm39) missense probably benign 0.03
R8826:Krt8 UTSW 15 101,909,870 (GRCm39) missense possibly damaging 0.89
R9146:Krt8 UTSW 15 101,907,370 (GRCm39) missense probably damaging 0.98
R9565:Krt8 UTSW 15 101,912,460 (GRCm39) missense probably benign 0.26
Z1177:Krt8 UTSW 15 101,907,870 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-03-25