Incidental Mutation 'R1213:Krt78'
ID 99495
Institutional Source Beutler Lab
Gene Symbol Krt78
Ensembl Gene ENSMUSG00000050463
Gene Name keratin 78
Synonyms 2310030B04Rik
MMRRC Submission 039282-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R1213 (G1)
Quality Score 213
Status Not validated
Chromosome 15
Chromosomal Location 101854436-101862722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101860245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 224 (M224V)
Ref Sequence ENSEMBL: ENSMUSP00000126197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164932]
AlphaFold E9Q0F0
Predicted Effect probably benign
Transcript: ENSMUST00000164932
AA Change: M224V

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: M224V

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
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.2%
  • 20x: 87.9%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg1 T C 1: 82,853,055 (GRCm39) S142P probably damaging Het
Appl1 G A 14: 26,665,950 (GRCm39) A388V probably benign Het
Atp11a A G 8: 12,892,859 (GRCm39) R70G probably benign Het
Atrnl1 G A 19: 57,626,894 (GRCm39) V167I probably benign Het
Bfar T C 16: 13,505,308 (GRCm39) I106T possibly damaging Het
Cbx8 T C 11: 118,930,359 (GRCm39) probably null Het
Cd80 T C 16: 38,294,245 (GRCm39) S43P probably damaging Het
Fat4 G A 3: 38,944,520 (GRCm39) A1138T probably benign Het
Fcgbpl1 T C 7: 27,857,098 (GRCm39) S2149P probably damaging Het
Fmo3 C A 1: 162,795,392 (GRCm39) G148W probably damaging Het
Ftdc2 A T 16: 58,458,057 (GRCm39) Y81* probably null Het
Moxd2 A G 6: 40,868,831 (GRCm39) probably benign Het
Or13n4 T A 7: 106,423,404 (GRCm39) T110S possibly damaging Het
Or2y14 T A 11: 49,405,421 (GRCm39) *319K probably null Het
Or6d15 A G 6: 116,559,827 (GRCm39) S27P probably benign Het
Pax6 G A 2: 105,516,258 (GRCm39) G179R probably benign Het
Rbm12 G A 2: 155,939,412 (GRCm39) Q287* probably null Het
Rtel1 T A 2: 180,993,128 (GRCm39) H703Q probably benign Het
Spag17 A G 3: 100,002,954 (GRCm39) R1893G probably benign Het
Synpo A G 18: 60,735,525 (GRCm39) V807A possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- CACTGAGACTGCTGCTTCTGTCTG -3'
(R):5'- AAGCCAAGATCTGACTGAAGTGCTG -3'

Sequencing Primer
(F):5'- CTGTCAAATGATGAGTGACCAC -3'
(R):5'- ACAGGCTCTGGGCTTACTAC -3'
Posted On 2014-01-15