Incidental Mutation 'R1975:Krt78'
ID 221639
Institutional Source Beutler Lab
Gene Symbol Krt78
Ensembl Gene ENSMUSG00000050463
Gene Name keratin 78
Synonyms 2310030B04Rik
MMRRC Submission 039988-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R1975 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 101854436-101862722 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 101854603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 1069 (*1069W)
Ref Sequence ENSEMBL: ENSMUSP00000126197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164932]
AlphaFold E9Q0F0
Predicted Effect probably null
Transcript: ENSMUST00000164932
AA Change: *1069W
SMART Domains Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: *1069W

DomainStartEndE-ValueType
Pfam:Keratin_2_head 2 101 5.7e-16 PFAM
Filament 104 417 1.38e-133 SMART
internal_repeat_1 421 660 8.87e-74 PROSPERO
internal_repeat_1 704 957 8.87e-74 PROSPERO
low complexity region 1033 1049 N/A INTRINSIC
Meta Mutation Damage Score 0.8557 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 96% (71/74)
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 gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 T C 5: 121,742,322 (GRCm39) T429A probably benign Het
Afmid A C 11: 117,727,300 (GRCm39) I275L probably benign Het
Aimp1 A C 3: 132,382,860 (GRCm39) D5E possibly damaging Het
Aldob G A 4: 49,538,171 (GRCm39) A319V probably benign Het
Ankar C T 1: 72,697,600 (GRCm39) V1068I possibly damaging Het
Ccr2 C T 9: 123,906,830 (GRCm39) S370L probably benign Het
Chrnb4 A G 9: 54,942,102 (GRCm39) Y391H probably damaging Het
Clip1 A G 5: 123,761,281 (GRCm39) M873T possibly damaging Het
Cspg4 G C 9: 56,797,762 (GRCm39) G1409R probably damaging Het
Dnah17 A T 11: 117,987,362 (GRCm39) L1320* probably null Het
Dock4 T C 12: 40,829,641 (GRCm39) probably benign Het
Eml4 T C 17: 83,717,622 (GRCm39) S65P probably benign Het
Fblim1 A T 4: 141,312,175 (GRCm39) D183E probably damaging Het
Foxn1 T C 11: 78,256,763 (GRCm39) probably benign Het
Gm973 A T 1: 59,601,930 (GRCm39) T515S possibly damaging Het
Hdac7 G A 15: 97,704,386 (GRCm39) Q495* probably null Het
Hipk3 T C 2: 104,301,518 (GRCm39) I225V probably benign Het
Hrc A T 7: 44,985,638 (GRCm39) D263V probably damaging Het
Hs6st3 T C 14: 119,375,888 (GRCm39) I21T probably benign Het
Il15ra A G 2: 11,728,334 (GRCm39) T133A possibly damaging Het
Lama3 T A 18: 12,586,920 (GRCm39) M761K probably damaging Het
Lonp1 T C 17: 56,922,068 (GRCm39) T771A possibly damaging Het
Macf1 T C 4: 123,383,005 (GRCm39) T1320A probably damaging Het
Mark3 A T 12: 111,581,875 (GRCm39) I115L probably damaging Het
Mcph1 T G 8: 18,739,081 (GRCm39) probably benign Het
Med23 T A 10: 24,786,664 (GRCm39) N923K probably benign Het
Msrb2 T G 2: 19,398,032 (GRCm39) Y97D probably damaging Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Mylk T C 16: 34,700,673 (GRCm39) probably null Het
Nfrkb T A 9: 31,325,980 (GRCm39) V1141E possibly damaging Het
Obscn T C 11: 58,958,555 (GRCm39) E3675G probably damaging Het
Or11h7 T A 14: 50,890,821 (GRCm39) N42K probably damaging Het
Or2l5 G A 16: 19,333,586 (GRCm39) P267S probably damaging Het
Or2t6 A T 14: 14,175,446 (GRCm38) V212E probably damaging Het
Or51aa2 A T 7: 103,188,201 (GRCm39) F80Y probably damaging Het
Or52z14 A G 7: 103,253,219 (GRCm39) probably null Het
Or5ac21 T C 16: 59,124,091 (GRCm39) S193P probably damaging Het
Or8k21 C G 2: 86,145,498 (GRCm39) G44A probably damaging Het
Pan2 T C 10: 128,156,282 (GRCm39) V1171A probably damaging Het
Pdgfc C T 3: 81,116,552 (GRCm39) T302I probably damaging Het
Pkhd1l1 G T 15: 44,393,109 (GRCm39) V1815F probably damaging Het
Pnpt1 A G 11: 29,091,256 (GRCm39) I337V probably benign Het
Psma8 T G 18: 14,864,033 (GRCm39) probably null Het
Rbl2 T C 8: 91,812,090 (GRCm39) S220P probably benign Het
Rere T A 4: 150,700,190 (GRCm39) D1091E probably damaging Het
Rpa1 A G 11: 75,197,002 (GRCm39) C540R probably damaging Het
Sema3d T A 5: 12,613,285 (GRCm39) V454E probably damaging Het
Sema3d T C 5: 12,634,965 (GRCm39) V677A probably benign Het
Sgk2 A G 2: 162,846,080 (GRCm39) N207S probably benign Het
Sirpb1a T C 3: 15,444,141 (GRCm39) I370V probably benign Het
Slc22a19 A G 19: 7,661,224 (GRCm39) probably benign Het
Slc26a1 T A 5: 108,820,338 (GRCm39) D287V probably damaging Het
Slc36a4 T A 9: 15,645,506 (GRCm39) V311D probably damaging Het
Slco1b2 A T 6: 141,628,951 (GRCm39) Y551F probably damaging Het
Slco2a1 T A 9: 102,956,653 (GRCm39) Y488* probably null Het
Stab2 A C 10: 86,732,360 (GRCm39) probably null Het
Strn T C 17: 78,999,928 (GRCm39) probably null Het
Tbxas1 A G 6: 38,925,575 (GRCm39) probably benign Het
Thumpd3 A G 6: 113,032,838 (GRCm39) N192S possibly damaging Het
Tns3 T A 11: 8,385,738 (GRCm39) I1386F probably benign Het
Treml4 T A 17: 48,579,821 (GRCm39) V219E probably damaging Het
Triobp T C 15: 78,850,908 (GRCm39) V354A probably benign Het
Tspan8 A G 10: 115,680,035 (GRCm39) I217V probably benign Het
Tub G A 7: 108,627,042 (GRCm39) G314R possibly damaging Het
Ube3b C T 5: 114,537,926 (GRCm39) T339M possibly damaging Het
Vmn2r43 A G 7: 8,258,550 (GRCm39) I221T possibly damaging Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Zfp110 C T 7: 12,582,429 (GRCm39) T359I probably benign Het
Zfp322a A T 13: 23,541,074 (GRCm39) C223S probably damaging Het
Zfp512b G A 2: 181,228,878 (GRCm39) R696* probably null Het
Other mutations in Krt78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Krt78 APN 15 101,855,945 (GRCm39) missense probably benign 0.28
IGL01358:Krt78 APN 15 101,854,698 (GRCm39) missense probably benign 0.18
IGL01723:Krt78 APN 15 101,860,233 (GRCm39) missense possibly damaging 0.65
IGL01743:Krt78 APN 15 101,859,333 (GRCm39) missense probably benign 0.06
IGL01778:Krt78 APN 15 101,859,402 (GRCm39) missense probably damaging 1.00
IGL01792:Krt78 APN 15 101,855,085 (GRCm39) missense probably benign 0.01
IGL02271:Krt78 APN 15 101,857,028 (GRCm39) missense probably benign 0.02
IGL02481:Krt78 APN 15 101,856,853 (GRCm39) splice site probably benign
IGL02494:Krt78 APN 15 101,862,486 (GRCm39) missense probably benign 0.00
IGL02708:Krt78 APN 15 101,861,842 (GRCm39) missense possibly damaging 0.88
IGL02747:Krt78 APN 15 101,858,819 (GRCm39) splice site probably benign
IGL02997:Krt78 APN 15 101,855,598 (GRCm39) missense probably benign 0.11
IGL03350:Krt78 APN 15 101,854,952 (GRCm39) missense probably benign 0.02
IGL03410:Krt78 APN 15 101,862,421 (GRCm39) missense probably damaging 0.99
PIT4812001:Krt78 UTSW 15 101,856,504 (GRCm39) missense probably damaging 1.00
R0090:Krt78 UTSW 15 101,856,272 (GRCm39) missense probably benign 0.35
R0513:Krt78 UTSW 15 101,859,384 (GRCm39) missense probably damaging 1.00
R0908:Krt78 UTSW 15 101,859,336 (GRCm39) missense probably damaging 1.00
R1067:Krt78 UTSW 15 101,854,896 (GRCm39) nonsense probably null
R1070:Krt78 UTSW 15 101,854,728 (GRCm39) missense possibly damaging 0.86
R1194:Krt78 UTSW 15 101,860,221 (GRCm39) missense probably damaging 0.99
R1213:Krt78 UTSW 15 101,860,245 (GRCm39) missense probably benign 0.10
R1467:Krt78 UTSW 15 101,854,728 (GRCm39) missense possibly damaging 0.86
R1467:Krt78 UTSW 15 101,854,728 (GRCm39) missense possibly damaging 0.86
R1612:Krt78 UTSW 15 101,860,279 (GRCm39) splice site probably null
R1750:Krt78 UTSW 15 101,854,812 (GRCm39) missense probably benign 0.33
R1796:Krt78 UTSW 15 101,859,300 (GRCm39) missense probably damaging 1.00
R1863:Krt78 UTSW 15 101,855,004 (GRCm39) missense possibly damaging 0.53
R1901:Krt78 UTSW 15 101,855,398 (GRCm39) nonsense probably null
R1902:Krt78 UTSW 15 101,855,398 (GRCm39) nonsense probably null
R2105:Krt78 UTSW 15 101,855,849 (GRCm39) missense possibly damaging 0.93
R2418:Krt78 UTSW 15 101,855,069 (GRCm39) missense probably benign
R2421:Krt78 UTSW 15 101,855,699 (GRCm39) missense probably damaging 0.96
R2422:Krt78 UTSW 15 101,855,699 (GRCm39) missense probably damaging 0.96
R2443:Krt78 UTSW 15 101,855,033 (GRCm39) missense probably damaging 1.00
R2897:Krt78 UTSW 15 101,855,541 (GRCm39) missense probably benign
R4422:Krt78 UTSW 15 101,856,375 (GRCm39) missense probably benign 0.13
R4424:Krt78 UTSW 15 101,856,375 (GRCm39) missense probably benign 0.13
R4425:Krt78 UTSW 15 101,856,375 (GRCm39) missense probably benign 0.13
R4583:Krt78 UTSW 15 101,855,055 (GRCm39) missense possibly damaging 0.53
R4752:Krt78 UTSW 15 101,856,637 (GRCm39) missense probably benign 0.05
R4927:Krt78 UTSW 15 101,855,334 (GRCm39) missense probably benign 0.02
R5129:Krt78 UTSW 15 101,856,015 (GRCm39) missense possibly damaging 0.70
R5391:Krt78 UTSW 15 101,860,263 (GRCm39) nonsense probably null
R5575:Krt78 UTSW 15 101,855,787 (GRCm39) nonsense probably null
R5617:Krt78 UTSW 15 101,856,044 (GRCm39) missense probably damaging 0.99
R5806:Krt78 UTSW 15 101,858,937 (GRCm39) missense probably damaging 1.00
R5906:Krt78 UTSW 15 101,857,030 (GRCm39) missense probably damaging 0.98
R5993:Krt78 UTSW 15 101,858,884 (GRCm39) missense probably damaging 1.00
R6520:Krt78 UTSW 15 101,860,206 (GRCm39) missense probably benign 0.26
R6531:Krt78 UTSW 15 101,860,708 (GRCm39) missense probably benign 0.03
R6587:Krt78 UTSW 15 101,860,704 (GRCm39) missense probably benign 0.10
R6749:Krt78 UTSW 15 101,859,358 (GRCm39) missense probably damaging 1.00
R7126:Krt78 UTSW 15 101,856,871 (GRCm39) missense probably damaging 1.00
R7158:Krt78 UTSW 15 101,860,241 (GRCm39) missense probably benign 0.17
R7229:Krt78 UTSW 15 101,855,829 (GRCm39) missense probably benign 0.01
R7523:Krt78 UTSW 15 101,855,036 (GRCm39) missense not run
R7638:Krt78 UTSW 15 101,859,318 (GRCm39) missense probably damaging 1.00
R7879:Krt78 UTSW 15 101,856,624 (GRCm39) missense probably benign 0.22
R8013:Krt78 UTSW 15 101,856,977 (GRCm39) missense probably damaging 0.99
R8085:Krt78 UTSW 15 101,855,715 (GRCm39) missense possibly damaging 0.91
R8209:Krt78 UTSW 15 101,855,480 (GRCm39) missense possibly damaging 0.56
R8226:Krt78 UTSW 15 101,855,480 (GRCm39) missense possibly damaging 0.56
R8309:Krt78 UTSW 15 101,854,922 (GRCm39) missense probably benign 0.00
R8728:Krt78 UTSW 15 101,856,225 (GRCm39) missense probably benign 0.11
R8729:Krt78 UTSW 15 101,855,455 (GRCm39) missense probably damaging 0.98
R8887:Krt78 UTSW 15 101,861,746 (GRCm39) missense probably damaging 1.00
R9008:Krt78 UTSW 15 101,855,211 (GRCm39) small deletion probably benign
X0018:Krt78 UTSW 15 101,860,235 (GRCm39) missense possibly damaging 0.96
Z1088:Krt78 UTSW 15 101,855,766 (GRCm39) missense possibly damaging 0.91
Z1177:Krt78 UTSW 15 101,856,095 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTATGCAGAGCAGGACCTG -3'
(R):5'- TCCATGCCCAGAGGAGAATG -3'

Sequencing Primer
(F):5'- TGCCCCTGACCACTTGG -3'
(R):5'- GCTGGCAAGGCAGCTTTG -3'
Posted On 2014-08-25