Incidental Mutation 'IGL02271:Krt78'
ID 287130
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt78
Ensembl Gene ENSMUSG00000050463
Gene Name keratin 78
Synonyms 2310030B04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL02271
Quality Score
Status
Chromosome 15
Chromosomal Location 101854436-101862722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101857028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 360 (M360L)
Ref Sequence ENSEMBL: ENSMUSP00000126197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164932]
AlphaFold E9Q0F0
Predicted Effect probably benign
Transcript: ENSMUST00000164932
AA Change: M360L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: M360L

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
Coding Region Coverage
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 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 C T 1: 158,338,520 (GRCm39) probably benign Het
Bms1 C A 6: 118,366,290 (GRCm39) V1068F probably benign Het
Cand1 A T 10: 119,047,626 (GRCm39) N621K probably damaging Het
Cd44 C T 2: 102,661,732 (GRCm39) E418K possibly damaging Het
Clip2 A T 5: 134,531,425 (GRCm39) N758K probably benign Het
Cst11 A T 2: 148,613,161 (GRCm39) Y55N probably damaging Het
Cytip A T 2: 58,023,872 (GRCm39) L316* probably null Het
Ddx52 T C 11: 83,843,057 (GRCm39) M352T probably damaging Het
Fancd2 G A 6: 113,512,720 (GRCm39) probably benign Het
Fat4 A T 3: 39,034,068 (GRCm39) E2573D probably benign Het
Fbxl13 T G 5: 21,695,454 (GRCm39) D646A probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Grid2ip A G 5: 143,374,664 (GRCm39) D928G probably benign Het
Hmgxb3 A G 18: 61,265,285 (GRCm39) L1231P probably damaging Het
Ifitm7 A G 16: 13,801,541 (GRCm39) F73L probably damaging Het
Ikbkb T A 8: 23,155,919 (GRCm39) T583S probably benign Het
Kdm6b G A 11: 69,296,893 (GRCm39) A458V possibly damaging Het
Klra2 T C 6: 131,207,180 (GRCm39) K143R probably benign Het
Kmt2d A G 15: 98,764,309 (GRCm39) S42P possibly damaging Het
Lamb1 A G 12: 31,350,250 (GRCm39) N677S probably damaging Het
Lrrc9 G A 12: 72,557,155 (GRCm39) V1407I probably benign Het
Myo6 A G 9: 80,168,113 (GRCm39) T426A probably benign Het
Net1 T C 13: 3,937,663 (GRCm39) Y146C probably damaging Het
Nlrp4d T A 7: 10,122,625 (GRCm39) noncoding transcript Het
Notch4 A T 17: 34,787,445 (GRCm39) N335I probably damaging Het
Or14j6 A T 17: 38,215,134 (GRCm39) E232D probably benign Het
Or5ac20 A T 16: 59,104,584 (GRCm39) I92K probably damaging Het
Or8b53 A T 9: 38,667,784 (GRCm39) T267S probably benign Het
Pax3 A T 1: 78,171,969 (GRCm39) H80Q probably damaging Het
Pclo A T 5: 14,729,508 (GRCm39) probably benign Het
Pdgfra A G 5: 75,348,567 (GRCm39) D869G probably damaging Het
Per2 T C 1: 91,373,332 (GRCm39) Y152C probably damaging Het
Pilrb2 T C 5: 137,865,125 (GRCm39) D223G probably benign Het
Rag1 T A 2: 101,473,733 (GRCm39) I470F probably damaging Het
Rap1gap T C 4: 137,445,317 (GRCm39) S333P probably damaging Het
Rundc3b A G 5: 8,542,530 (GRCm39) Y430H probably damaging Het
Ryr1 T C 7: 28,793,472 (GRCm39) D1332G probably benign Het
Sgo1 G A 17: 53,986,567 (GRCm39) A208V possibly damaging Het
Skint5 C T 4: 113,794,778 (GRCm39) probably null Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc28a3 A T 13: 58,706,451 (GRCm39) S597T probably benign Het
Slc4a5 T A 6: 83,248,085 (GRCm39) probably benign Het
Slc52a3 A G 2: 151,847,448 (GRCm39) probably benign Het
Stac3 A G 10: 127,339,768 (GRCm39) D158G probably benign Het
Tdo2 T C 3: 81,871,224 (GRCm39) probably benign Het
Usp25 A T 16: 76,912,335 (GRCm39) E1018V probably damaging Het
Vmn1r46 T A 6: 89,953,886 (GRCm39) F245Y probably damaging 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
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
R1975:Krt78 UTSW 15 101,854,603 (GRCm39) makesense 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
Posted On 2015-04-16