Incidental Mutation 'IGL02064:Krtap5-2'
ID 185561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap5-2
Ensembl Gene ENSMUSG00000054759
Gene Name keratin associated protein 5-2
Synonyms 4833428E21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02064
Quality Score
Status
Chromosome 7
Chromosomal Location 141728272-141729742 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 141729468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 71 (G71C)
Ref Sequence ENSEMBL: ENSMUSP00000140784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067978] [ENSMUST00000190456]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000067978
AA Change: G71C
SMART Domains Protein: ENSMUSP00000070557
Gene: ENSMUSG00000054759
AA Change: G71C

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 129 173 4.4e-10 PFAM
Pfam:Keratin_B2_2 144 188 1.8e-8 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000190456
AA Change: G71C
SMART Domains Protein: ENSMUSP00000140784
Gene: ENSMUSG00000054759
AA Change: G71C

DomainStartEndE-ValueType
low complexity region 2 358 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,784,463 (GRCm39) L312P probably damaging Het
Acap2 A C 16: 30,946,146 (GRCm39) W284G probably damaging Het
Acsf3 T C 8: 123,506,986 (GRCm39) L93P possibly damaging Het
Agbl2 G T 2: 90,614,368 (GRCm39) probably benign Het
Arap3 C T 18: 38,124,754 (GRCm39) G242D probably damaging Het
Asxl3 G A 18: 22,657,401 (GRCm39) V1804I possibly damaging Het
Bnc1 C A 7: 81,623,251 (GRCm39) V659L probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Car9 A G 4: 43,507,363 (GRCm39) E103G probably benign Het
Chrm4 A G 2: 91,758,176 (GRCm39) T195A probably damaging Het
Cldn10 T C 14: 119,092,424 (GRCm39) I8T probably damaging Het
Col12a1 G A 9: 79,599,654 (GRCm39) S833F probably benign Het
Cryba2 T A 1: 74,929,720 (GRCm39) D139V possibly damaging Het
Emp1 T A 6: 135,354,210 (GRCm39) M1K probably null Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Exosc4 C A 15: 76,213,836 (GRCm39) A220E probably damaging Het
Fryl A G 5: 73,282,112 (GRCm39) probably benign Het
Grid2 C T 6: 64,040,919 (GRCm39) T287I probably benign Het
Grifin C T 5: 140,550,494 (GRCm39) A7T probably damaging Het
Gzmg T C 14: 56,394,798 (GRCm39) K157E probably benign Het
Kcnq2 A T 2: 180,750,819 (GRCm39) I340N probably damaging Het
Klrb1 T A 6: 128,687,600 (GRCm39) H98L probably benign Het
Krt90 T C 15: 101,471,088 (GRCm39) H58R possibly damaging Het
Krtap7-1 A T 16: 89,305,011 (GRCm39) M47K probably benign Het
Lmntd1 T A 6: 145,373,002 (GRCm39) probably null Het
Ly6g2 A G 15: 75,093,505 (GRCm39) probably benign Het
Musk A G 4: 58,286,128 (GRCm39) N6S possibly damaging Het
Or2aj4 A G 16: 19,385,298 (GRCm39) C112R probably damaging Het
Or51a39 A G 7: 102,362,808 (GRCm39) F271L probably damaging Het
Or56a42-ps1 A T 7: 104,776,241 (GRCm39) F89Y possibly damaging Het
Or5p58 T G 7: 107,694,454 (GRCm39) T108P probably benign Het
Or8c15 T A 9: 38,120,874 (GRCm39) I122N probably damaging Het
Pcdh19 A G X: 132,586,719 (GRCm39) M432T probably benign Het
Prdm1 A G 10: 44,317,338 (GRCm39) F495S probably damaging Het
Prkar2a T C 9: 108,610,403 (GRCm39) Y211H possibly damaging Het
Ralgapa1 C A 12: 55,754,862 (GRCm39) G1143V probably damaging Het
Rbbp7 A G X: 161,552,783 (GRCm39) probably null Het
Scel C A 14: 103,770,762 (GRCm39) H65Q probably damaging Het
Sec24d T C 3: 123,137,463 (GRCm39) probably benign Het
Sfswap C A 5: 129,637,860 (GRCm39) T839N probably benign Het
Slc15a1 T C 14: 121,699,911 (GRCm39) I636V possibly damaging Het
Slc15a1 G T 14: 121,699,886 (GRCm39) P644H probably benign Het
Slc6a21 T A 7: 44,935,883 (GRCm39) I38N possibly damaging Het
Sucla2 C T 14: 73,816,913 (GRCm39) Q218* probably null Het
Tbc1d14 A T 5: 36,665,019 (GRCm39) L237* probably null Het
Trpm7 C T 2: 126,639,863 (GRCm39) E1578K probably damaging Het
Ttc17 G A 2: 94,161,012 (GRCm39) T896I probably damaging Het
Virma A G 4: 11,513,163 (GRCm39) D339G possibly damaging Het
Vmn2r54 T A 7: 12,349,533 (GRCm39) Y683F probably benign Het
Xrra1 T A 7: 99,563,411 (GRCm39) L466Q probably damaging Het
Other mutations in Krtap5-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Krtap5-2 APN 7 141,729,459 (GRCm39) nonsense probably null
IGL03214:Krtap5-2 APN 7 141,728,751 (GRCm39) missense unknown
IGL03326:Krtap5-2 APN 7 141,729,100 (GRCm39) nonsense probably null
R1196:Krtap5-2 UTSW 7 141,728,620 (GRCm39) nonsense probably null
R2327:Krtap5-2 UTSW 7 141,728,748 (GRCm39) missense unknown
R5166:Krtap5-2 UTSW 7 141,728,721 (GRCm39) missense unknown
R5723:Krtap5-2 UTSW 7 141,728,742 (GRCm39) missense unknown
R6356:Krtap5-2 UTSW 7 141,729,119 (GRCm39) intron probably benign
R6364:Krtap5-2 UTSW 7 141,728,800 (GRCm39) nonsense probably null
R6593:Krtap5-2 UTSW 7 141,728,697 (GRCm39) missense unknown
R7193:Krtap5-2 UTSW 7 141,728,980 (GRCm39) small deletion probably benign
R7740:Krtap5-2 UTSW 7 141,728,699 (GRCm39) missense unknown
R7748:Krtap5-2 UTSW 7 141,728,845 (GRCm39) critical splice acceptor site probably benign
R7753:Krtap5-2 UTSW 7 141,729,136 (GRCm39) small deletion probably benign
R8307:Krtap5-2 UTSW 7 141,728,586 (GRCm39) missense unknown
R8446:Krtap5-2 UTSW 7 141,728,845 (GRCm39) critical splice acceptor site probably benign
R8767:Krtap5-2 UTSW 7 141,728,845 (GRCm39) critical splice acceptor site probably benign
R9100:Krtap5-2 UTSW 7 141,728,836 (GRCm39) critical splice acceptor site probably benign
R9689:Krtap5-2 UTSW 7 141,729,029 (GRCm39) missense unknown
Z1177:Krtap5-2 UTSW 7 141,729,518 (GRCm39) missense unknown
Posted On 2014-05-07