Incidental Mutation 'IGL02481:Krt78'
ID 295233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt78
Ensembl Gene ENSMUSG00000050463
Gene Name keratin 78
Synonyms 2310030B04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL02481
Quality Score
Status
Chromosome 15
Chromosomal Location 101946001-101954287 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 101948418 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164932]
AlphaFold E9Q0F0
Predicted Effect probably benign
Transcript: ENSMUST00000164932
SMART Domains Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b8 G A 6: 34,363,794 A209T probably damaging Het
Ccdc90b G A 7: 92,574,646 V117I probably benign Het
Cdkl2 A T 5: 92,037,271 I87N probably damaging Het
Cfap57 T A 4: 118,581,105 E863V probably damaging Het
Clca2 G A 3: 145,084,940 S457L possibly damaging Het
Crim1 C T 17: 78,350,798 T702I probably damaging Het
Cysltr1 C A X: 106,578,122 V253L probably damaging Het
Dgcr6 G A 16: 18,065,174 A6T possibly damaging Het
Dis3l T C 9: 64,319,080 probably null Het
Dnm3 A G 1: 162,010,902 S826P probably damaging Het
Dspp A G 5: 104,175,648 N219S possibly damaging Het
Dzip3 T C 16: 48,975,551 probably benign Het
Erc2 T A 14: 27,653,071 L82Q probably damaging Het
Ercc6l T C X: 102,144,669 T745A probably benign Het
Gata4 T C 14: 63,200,461 T414A probably benign Het
Gmps A G 3: 64,014,352 D592G probably damaging Het
Grin3a A G 4: 49,702,868 Y873H probably damaging Het
Gsr T C 8: 33,685,541 probably benign Het
Gtf2h1 T C 7: 46,804,993 L133P probably damaging Het
Ifna5 A C 4: 88,836,090 E189A probably benign Het
Irx5 A G 8: 92,360,679 Y413C probably damaging Het
Kcnk3 A G 5: 30,622,383 E259G probably damaging Het
Kcnt2 T C 1: 140,354,561 probably benign Het
Kif19a A G 11: 114,789,153 E772G probably benign Het
Klhdc7a T A 4: 139,965,810 T609S probably benign Het
Lca5 A T 9: 83,423,117 I212N probably damaging Het
Lgr6 T C 1: 135,001,691 probably benign Het
Madd T G 2: 91,178,036 T174P probably damaging Het
Mcm9 A G 10: 53,625,937 I184T probably damaging Het
Mlycd G A 8: 119,410,334 R431H probably damaging Het
Myh10 G A 11: 68,802,168 A1393T probably benign Het
Myof G T 19: 37,937,913 Y1144* probably null Het
Nbeal2 G A 9: 110,625,995 Q2578* probably null Het
Nlrp4f T A 13: 65,194,734 T366S probably benign Het
Nnat T C 2: 157,561,247 F36S possibly damaging Het
Nsd3 C A 8: 25,691,116 P915T probably damaging Het
Olfr117 A G 17: 37,659,472 L287P probably damaging Het
Olfr1335 C T 4: 118,809,499 V122M probably benign Het
Olfr351 A T 2: 36,859,818 C177S probably damaging Het
Olfr370 A C 8: 83,541,386 M81L possibly damaging Het
Olfr723 G A 14: 49,928,707 T279I probably damaging Het
Pkd1l3 A G 8: 109,614,782 N89S unknown Het
Pkd2 T C 5: 104,486,770 F556L probably damaging Het
Psen2 T A 1: 180,235,061 M239L probably damaging Het
Rad50 A G 11: 53,680,049 I794T probably benign Het
Ralgps1 G A 2: 33,340,729 T14I probably benign Het
Rnpepl1 C T 1: 92,915,907 P250S probably damaging Het
Slc47a2 A G 11: 61,336,241 V167A possibly damaging Het
Tmem161b T A 13: 84,283,993 V41D probably damaging Het
Vmn2r88 A T 14: 51,414,154 E308D probably benign Het
Wdr61 T C 9: 54,728,261 I19V probably damaging Het
Zfhx4 G A 3: 5,411,843 E3148K probably damaging Het
Other mutations in Krt78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Krt78 APN 15 101947510 missense probably benign 0.28
IGL01358:Krt78 APN 15 101946263 missense probably benign 0.18
IGL01723:Krt78 APN 15 101951798 missense possibly damaging 0.65
IGL01743:Krt78 APN 15 101950898 missense probably benign 0.06
IGL01778:Krt78 APN 15 101950967 missense probably damaging 1.00
IGL01792:Krt78 APN 15 101946650 missense probably benign 0.01
IGL02271:Krt78 APN 15 101948593 missense probably benign 0.02
IGL02494:Krt78 APN 15 101954051 missense probably benign 0.00
IGL02708:Krt78 APN 15 101953407 missense possibly damaging 0.88
IGL02747:Krt78 APN 15 101950384 splice site probably benign
IGL02997:Krt78 APN 15 101947163 missense probably benign 0.11
IGL03350:Krt78 APN 15 101946517 missense probably benign 0.02
IGL03410:Krt78 APN 15 101953986 missense probably damaging 0.99
PIT4812001:Krt78 UTSW 15 101948069 missense probably damaging 1.00
R0090:Krt78 UTSW 15 101947837 missense probably benign 0.35
R0513:Krt78 UTSW 15 101950949 missense probably damaging 1.00
R0908:Krt78 UTSW 15 101950901 missense probably damaging 1.00
R1067:Krt78 UTSW 15 101946461 nonsense probably null
R1070:Krt78 UTSW 15 101946293 missense possibly damaging 0.86
R1194:Krt78 UTSW 15 101951786 missense probably damaging 0.99
R1213:Krt78 UTSW 15 101951810 missense probably benign 0.10
R1467:Krt78 UTSW 15 101946293 missense possibly damaging 0.86
R1467:Krt78 UTSW 15 101946293 missense possibly damaging 0.86
R1612:Krt78 UTSW 15 101951844 splice site probably null
R1750:Krt78 UTSW 15 101946377 missense probably benign 0.33
R1796:Krt78 UTSW 15 101950865 missense probably damaging 1.00
R1863:Krt78 UTSW 15 101946569 missense possibly damaging 0.53
R1901:Krt78 UTSW 15 101946963 nonsense probably null
R1902:Krt78 UTSW 15 101946963 nonsense probably null
R1975:Krt78 UTSW 15 101946168 makesense probably null
R2105:Krt78 UTSW 15 101947414 missense possibly damaging 0.93
R2418:Krt78 UTSW 15 101946634 missense probably benign
R2421:Krt78 UTSW 15 101947264 missense probably damaging 0.96
R2422:Krt78 UTSW 15 101947264 missense probably damaging 0.96
R2443:Krt78 UTSW 15 101946598 missense probably damaging 1.00
R2897:Krt78 UTSW 15 101947106 missense probably benign
R4422:Krt78 UTSW 15 101947940 missense probably benign 0.13
R4424:Krt78 UTSW 15 101947940 missense probably benign 0.13
R4425:Krt78 UTSW 15 101947940 missense probably benign 0.13
R4583:Krt78 UTSW 15 101946620 missense possibly damaging 0.53
R4752:Krt78 UTSW 15 101948202 missense probably benign 0.05
R4927:Krt78 UTSW 15 101946899 missense probably benign 0.02
R5129:Krt78 UTSW 15 101947580 missense possibly damaging 0.70
R5391:Krt78 UTSW 15 101951828 nonsense probably null
R5575:Krt78 UTSW 15 101947352 nonsense probably null
R5617:Krt78 UTSW 15 101947609 missense probably damaging 0.99
R5806:Krt78 UTSW 15 101950502 missense probably damaging 1.00
R5906:Krt78 UTSW 15 101948595 missense probably damaging 0.98
R5993:Krt78 UTSW 15 101950449 missense probably damaging 1.00
R6520:Krt78 UTSW 15 101951771 missense probably benign 0.26
R6531:Krt78 UTSW 15 101952273 missense probably benign 0.03
R6587:Krt78 UTSW 15 101952269 missense probably benign 0.10
R6749:Krt78 UTSW 15 101950923 missense probably damaging 1.00
R7126:Krt78 UTSW 15 101948436 missense probably damaging 1.00
R7158:Krt78 UTSW 15 101951806 missense probably benign 0.17
R7229:Krt78 UTSW 15 101947394 missense probably benign 0.01
R7523:Krt78 UTSW 15 101946601 missense not run
R7638:Krt78 UTSW 15 101950883 missense probably damaging 1.00
R7879:Krt78 UTSW 15 101948189 missense probably benign 0.22
R8013:Krt78 UTSW 15 101948542 missense probably damaging 0.99
R8085:Krt78 UTSW 15 101947280 missense possibly damaging 0.91
R8209:Krt78 UTSW 15 101947045 missense possibly damaging 0.56
R8226:Krt78 UTSW 15 101947045 missense possibly damaging 0.56
R8309:Krt78 UTSW 15 101946487 missense probably benign 0.00
R8728:Krt78 UTSW 15 101947790 missense probably benign 0.11
R8729:Krt78 UTSW 15 101947020 missense probably damaging 0.98
R8887:Krt78 UTSW 15 101953311 missense probably damaging 1.00
R9008:Krt78 UTSW 15 101946776 small deletion probably benign
X0018:Krt78 UTSW 15 101951800 missense possibly damaging 0.96
Z1088:Krt78 UTSW 15 101947331 missense possibly damaging 0.91
Z1177:Krt78 UTSW 15 101947660 missense probably benign
Posted On 2015-04-16