Incidental Mutation 'IGL01958:Krtap5-2'
ID 181460
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 # IGL01958
Quality Score
Chromosome 7
Chromosomal Location 141728272-141729742 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 141729459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 74 (G74*)
Ref Sequence ENSEMBL: ENSMUSP00000140784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067978] [ENSMUST00000190456]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000067978
AA Change: G74*
SMART Domains Protein: ENSMUSP00000070557
Gene: ENSMUSG00000054759
AA Change: G74*

Pfam:Keratin_B2_2 129 173 4.4e-10 PFAM
Pfam:Keratin_B2_2 144 188 1.8e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000190456
AA Change: G74*
SMART Domains Protein: ENSMUSP00000140784
Gene: ENSMUSG00000054759
AA Change: G74*

low complexity region 2 358 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,629,659 (GRCm39) I29T probably damaging Het
Agps G A 2: 75,740,045 (GRCm39) probably null Het
Agxt2 A G 15: 10,393,794 (GRCm39) probably null Het
Ahnak T C 19: 8,992,273 (GRCm39) V4519A possibly damaging Het
Aktip T C 8: 91,852,853 (GRCm39) D159G probably damaging Het
Ankrd44 T C 1: 54,806,125 (GRCm39) I94V probably damaging Het
Asph T C 4: 9,474,904 (GRCm39) E674G possibly damaging Het
Atat1 T A 17: 36,219,735 (GRCm39) probably benign Het
Ccar1 G A 10: 62,626,714 (GRCm39) A20V possibly damaging Het
Cdc26 T C 4: 62,321,001 (GRCm39) D14G probably damaging Het
Cdh15 T C 8: 123,586,089 (GRCm39) F156S probably damaging Het
Dctn1 A G 6: 83,168,326 (GRCm39) T525A possibly damaging Het
Dnah8 T G 17: 31,074,869 (GRCm39) probably benign Het
Dnajc10 T A 2: 80,151,648 (GRCm39) probably benign Het
Dtl C A 1: 191,300,489 (GRCm39) W125L probably damaging Het
Fam3c G A 6: 22,318,954 (GRCm39) T149I probably damaging Het
Fgd6 A G 10: 93,974,170 (GRCm39) T1304A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm6578 A G 6: 12,099,766 (GRCm39) noncoding transcript Het
Gnai1 A G 5: 18,478,568 (GRCm39) F199S probably damaging Het
Grb7 T A 11: 98,345,480 (GRCm39) V480D probably damaging Het
Hdc A G 2: 126,436,452 (GRCm39) L473P possibly damaging Het
Hmcn1 T C 1: 150,479,622 (GRCm39) N4614S probably benign Het
Il20ra A G 10: 19,634,791 (GRCm39) D344G probably benign Het
Ints1 C T 5: 139,745,843 (GRCm39) R1342Q possibly damaging Het
Itga9 T A 9: 118,465,562 (GRCm39) probably benign Het
Kat14 T C 2: 144,236,285 (GRCm39) L339P probably damaging Het
Klhl22 A G 16: 17,594,326 (GRCm39) I152V probably benign Het
Lrrc59 C A 11: 94,529,354 (GRCm39) probably null Het
Map3k13 A G 16: 21,710,873 (GRCm39) Q52R probably benign Het
Mb21d2 A G 16: 28,646,495 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,463,053 (GRCm39) probably benign Het
Myrf A G 19: 10,187,742 (GRCm39) probably benign Het
Nek11 T C 9: 105,177,502 (GRCm39) T250A probably benign Het
Nek5 A T 8: 22,586,842 (GRCm39) V323E probably benign Het
Nfasc A T 1: 132,536,176 (GRCm39) C586* probably null Het
Nup210l T A 3: 90,111,231 (GRCm39) L1711Q possibly damaging Het
Parp8 T G 13: 117,013,108 (GRCm39) K644Q probably benign Het
Pcnt G T 10: 76,269,513 (GRCm39) Q252K probably damaging Het
Pianp A G 6: 124,977,646 (GRCm39) T181A possibly damaging Het
Pkd1 T C 17: 24,799,298 (GRCm39) V2839A probably damaging Het
Poli C T 18: 70,659,657 (GRCm39) R58H possibly damaging Het
Ptk7 T C 17: 46,890,353 (GRCm39) D447G probably benign Het
Rapgef5 A G 12: 117,694,386 (GRCm39) I637V probably benign Het
Rasip1 A T 7: 45,286,188 (GRCm39) R804* probably null Het
Relt A G 7: 100,500,350 (GRCm39) V113A probably benign Het
Rnf215 G T 11: 4,090,317 (GRCm39) C345F probably damaging Het
Scart2 T C 7: 139,854,040 (GRCm39) C348R probably damaging Het
Scn2a A G 2: 65,532,173 (GRCm39) D595G probably damaging Het
Serpina3k G A 12: 104,307,316 (GRCm39) V183M probably damaging Het
Snapc4 T C 2: 26,256,452 (GRCm39) probably benign Het
Sparcl1 A T 5: 104,240,406 (GRCm39) D339E probably benign Het
Tg T C 15: 66,631,335 (GRCm39) F535L probably benign Het
Zbtb45 C A 7: 12,740,203 (GRCm39) A471S probably benign Het
Zfp106 T A 2: 120,365,288 (GRCm39) K373M probably benign Het
Other mutations in Krtap5-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Krtap5-2 APN 7 141,729,468 (GRCm39) missense unknown
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