Incidental Mutation 'IGL00089:Krt78'
ID 877
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 # IGL00089
Quality Score
Status
Chromosome 15
Chromosomal Location 101854436-101862722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101855945 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 622 (T622I)
Ref Sequence ENSEMBL: ENSMUSP00000126197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164932]
AlphaFold E9Q0F0
Predicted Effect probably benign
Transcript: ENSMUST00000164932
AA Change: T622I

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: T622I

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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,645,854 (GRCm39) S580P probably damaging Het
Abca12 T A 1: 71,342,700 (GRCm39) I927F possibly damaging Het
Abca8a A G 11: 109,941,765 (GRCm39) V1168A possibly damaging Het
Abcc1 T A 16: 14,278,847 (GRCm39) N1052K probably benign Het
Adamts13 C A 2: 26,895,373 (GRCm39) Q1155K probably benign Het
Adgre4 A T 17: 56,098,915 (GRCm39) probably benign Het
Ahsa2 T C 11: 23,446,837 (GRCm39) E42G probably damaging Het
Ankk1 T G 9: 49,333,200 (GRCm39) I95L probably benign Het
Anpep A T 7: 79,491,734 (GRCm39) L89Q probably damaging Het
Arl5a T C 2: 52,306,083 (GRCm39) N83S probably benign Het
Atp11b A G 3: 35,863,525 (GRCm39) probably null Het
Atp6v0a2 T C 5: 124,798,841 (GRCm39) F849L probably benign Het
BC106179 A G 16: 23,043,022 (GRCm39) probably benign Het
Bcl2a1c T C 9: 114,159,608 (GRCm39) *129Q probably null Het
C2cd5 T C 6: 142,963,671 (GRCm39) I888V probably null Het
Calb2 A T 8: 110,872,303 (GRCm39) L227Q probably damaging Het
Ccp110 G T 7: 118,321,647 (GRCm39) C434F possibly damaging Het
Cd209c A T 8: 3,990,339 (GRCm39) C160S probably damaging Het
Chmp1a A G 8: 123,935,758 (GRCm39) probably null Het
Col6a6 T A 9: 105,635,390 (GRCm39) probably null Het
Cyld T A 8: 89,432,085 (GRCm39) C28S probably benign Het
Dapk1 A T 13: 60,908,854 (GRCm39) I1156F probably benign Het
Dennd1a A T 2: 38,133,454 (GRCm39) Y16* probably null Het
Dennd3 T G 15: 73,438,982 (GRCm39) S1117A probably benign Het
Dgka A T 10: 128,568,955 (GRCm39) D203E probably damaging Het
Dhx15 G T 5: 52,324,117 (GRCm39) L392I probably damaging Het
Dnah10 A G 5: 124,823,680 (GRCm39) D567G probably benign Het
Eaf1 T A 14: 31,226,483 (GRCm39) probably null Het
Efnb2 T C 8: 8,710,589 (GRCm39) D9G probably benign Het
Fcrla A T 1: 170,755,067 (GRCm39) C15S probably benign Het
Flt3 T C 5: 147,291,686 (GRCm39) N588S probably damaging Het
Garre1 A T 7: 33,945,412 (GRCm39) probably benign Het
Gm10146 A T 10: 78,229,307 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,603,653 (GRCm39) probably benign Het
Golm2 T C 2: 121,741,274 (GRCm39) probably benign Het
Gpr39 A C 1: 125,800,468 (GRCm39) R406S probably benign Het
H2-Aa T C 17: 34,503,504 (GRCm39) H31R probably damaging Het
Helz2 G T 2: 180,871,495 (GRCm39) R2706S probably damaging Het
Hip1r T A 5: 124,127,798 (GRCm39) probably null Het
Hnf4g A G 3: 3,713,142 (GRCm39) T239A probably benign Het
Hps5 A T 7: 46,425,362 (GRCm39) I413N probably damaging Het
Hspg2 G A 4: 137,256,131 (GRCm39) G1413R probably damaging Het
Itgax T G 7: 127,734,498 (GRCm39) M352R probably damaging Het
Katna1 T A 10: 7,638,568 (GRCm39) M433K probably damaging Het
Kcna4 T G 2: 107,126,207 (GRCm39) S314A probably damaging Het
Kif13b C T 14: 64,907,142 (GRCm39) T42I possibly damaging Het
Krt86 T A 15: 101,374,396 (GRCm39) M263K possibly damaging Het
Lap3 A G 5: 45,663,511 (GRCm39) probably benign Het
Lepr A T 4: 101,672,232 (GRCm39) R1085S probably benign Het
Lmcd1 A G 6: 112,306,769 (GRCm39) I314V probably benign Het
Luc7l2 T C 6: 38,585,105 (GRCm39) probably benign Het
Mcm2 T A 6: 88,870,383 (GRCm39) M117L probably benign Het
Mdh2 T C 5: 135,815,138 (GRCm39) Y133H probably damaging Het
Minar1 C T 9: 89,483,853 (GRCm39) V515I probably benign Het
Mlkl T A 8: 112,046,060 (GRCm39) R317* probably null Het
Mrps34 T C 17: 25,114,344 (GRCm39) L68P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo18a A G 11: 77,738,764 (GRCm39) E1299G probably damaging Het
Nlrp14 T C 7: 106,791,709 (GRCm39) L139P possibly damaging Het
Nudcd2 A G 11: 40,627,413 (GRCm39) D86G probably damaging Het
Or10u4 T A 10: 129,801,673 (GRCm39) R293W probably damaging Het
Or4c107 T A 2: 88,789,110 (GRCm39) I100N probably damaging Het
Or4f62 A T 2: 111,986,412 (GRCm39) M39L probably benign Het
Patj T C 4: 98,353,343 (GRCm39) F629L probably damaging Het
Rad23a A G 8: 85,562,524 (GRCm39) F280L probably damaging Het
Ralgapa1 C A 12: 55,769,558 (GRCm39) G811V probably damaging Het
St18 A G 1: 6,872,796 (GRCm39) D177G probably benign Het
Sult1c2 A C 17: 54,140,147 (GRCm39) Y159* probably null Het
Surf6 T A 2: 26,783,081 (GRCm39) probably null Het
Susd6 T G 12: 80,916,841 (GRCm39) probably benign Het
Sypl2 G A 3: 108,133,742 (GRCm39) probably benign Het
Ubr5 A T 15: 37,984,280 (GRCm39) F2289Y probably damaging Het
Vcl T C 14: 21,037,071 (GRCm39) I223T probably benign Het
Vmn1r234 C T 17: 21,449,860 (GRCm39) T258I possibly damaging Het
Vmn2r58 T A 7: 41,513,854 (GRCm39) K263M possibly damaging Het
Vmo1 A T 11: 70,404,424 (GRCm39) N192K probably damaging Het
Wrnip1 A G 13: 33,000,312 (GRCm39) N440D probably damaging Het
Zc3h4 T C 7: 16,156,159 (GRCm39) Y264H unknown Het
Zfp639 T G 3: 32,573,902 (GRCm39) probably null Het
Zfp831 T C 2: 174,488,078 (GRCm39) Y918H possibly damaging Het
Other mutations in Krt78
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2011-07-12