Incidental Mutation 'R6824:Krt8'
ID 534073
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 044936-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6824 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 101905146-101912777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101906875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 317 (N317S)
Ref Sequence ENSEMBL: ENSMUSP00000023952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023952]
AlphaFold P11679
Predicted Effect possibly damaging
Transcript: ENSMUST00000023952
AA Change: N317S

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023952
Gene: ENSMUSG00000049382
AA Change: N317S

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.7137 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (47/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 A G 6: 39,552,058 (GRCm39) D275G probably benign Het
Cdh4 G A 2: 179,439,351 (GRCm39) R166H probably damaging Het
Chl1 A G 6: 103,691,510 (GRCm39) K1051E probably damaging Het
Chn2 A T 6: 54,249,938 (GRCm39) M16L probably benign Het
Cmas A G 6: 142,716,962 (GRCm39) T285A possibly damaging Het
Cnga4 A T 7: 105,056,036 (GRCm39) M213L probably benign Het
Ctif C T 18: 75,654,782 (GRCm39) R248Q probably damaging Het
Cyth3 T C 5: 143,672,265 (GRCm39) I60T probably damaging Het
Dach1 A G 14: 98,256,328 (GRCm39) I310T possibly damaging Het
Defb6 T C 8: 19,278,099 (GRCm39) I57T probably benign Het
Dnajc27 T C 12: 4,156,897 (GRCm39) V262A possibly damaging Het
Emsy G A 7: 98,242,614 (GRCm39) T1175M probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fat4 T A 3: 39,011,674 (GRCm39) V2258E probably benign Het
Gm136 G A 4: 34,746,591 (GRCm39) T140I probably benign Het
Gps1 T C 11: 120,678,254 (GRCm39) F265S probably damaging Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
Hnrnpul2 T C 19: 8,804,081 (GRCm39) V560A possibly damaging Het
Kmt2b A G 7: 30,285,701 (GRCm39) probably benign Het
Lad1 A G 1: 135,755,479 (GRCm39) T252A probably benign Het
Maml2 G A 9: 13,608,513 (GRCm39) S743N possibly damaging Het
Mrpl9 C A 3: 94,350,677 (GRCm39) P7H possibly damaging Het
Myb T A 10: 21,021,019 (GRCm39) H470L probably benign Het
Nicol1 T C 5: 34,141,069 (GRCm39) probably benign Het
Nr1i3 T C 1: 171,042,542 (GRCm39) I56T probably benign Het
Nrdc A G 4: 108,900,622 (GRCm39) Y338C probably damaging Het
Or13n4 A G 7: 106,423,664 (GRCm39) V23A probably benign Het
Pcdhb20 T A 18: 37,638,752 (GRCm39) M426K probably benign Het
Pde6d T C 1: 86,473,485 (GRCm39) T104A possibly damaging Het
Ptprz1 A T 6: 23,002,130 (GRCm39) T1407S probably benign Het
Recql5 C T 11: 115,814,038 (GRCm39) R369Q possibly damaging Het
Rnf180 T A 13: 105,318,023 (GRCm39) D463V probably damaging Het
Sart3 C T 5: 113,882,600 (GRCm39) probably null Het
Sdk2 T C 11: 113,758,760 (GRCm39) D488G probably benign Het
Slc9a9 C T 9: 95,109,251 (GRCm39) P538S probably damaging Het
Snap29 A G 16: 17,240,370 (GRCm39) K159E probably benign Het
Spaca1 A G 4: 34,049,869 (GRCm39) V43A probably benign Het
Stk10 T C 11: 32,537,363 (GRCm39) S191P probably damaging Het
Tbc1d1 A G 5: 64,414,245 (GRCm39) H73R probably benign Het
Tcerg1l A G 7: 137,995,844 (GRCm39) probably null Het
Tmem67 T C 4: 12,051,449 (GRCm39) Y793C probably damaging Het
Ttll12 A T 15: 83,475,578 (GRCm39) probably null Het
Vmn2r61 G T 7: 41,949,403 (GRCm39) V608L probably benign Het
Xpo4 A T 14: 57,850,860 (GRCm39) I348N probably damaging Het
Zfp941 G A 7: 140,392,612 (GRCm39) T249M probably benign 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
R3796:Krt8 UTSW 15 101,907,877 (GRCm39) missense probably benign 0.00
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
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
(F):5'- TGGTGTATGTCCCTCCCTAAGG -3'
(R):5'- TGGACTGGCTCCACACAATG -3'

Sequencing Primer
(F):5'- CCAGGCTGGCCTTGAATTTACAG -3'
(R):5'- TCTGGAAAGGGGCCTTCACTG -3'
Posted On 2018-09-12