Incidental Mutation 'IGL01958:Krtap5-2'
ID181460
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap5-2
Ensembl Gene ENSMUSG00000054759
Gene Namekeratin associated protein 5-2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #IGL01958
Quality Score
Status
Chromosome7
Chromosomal Location142174535-142176005 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 142175722 bp
ZygosityHeterozygous
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]
Predicted Effect probably null
Transcript: ENSMUST00000067978
AA Change: G74*
SMART Domains Protein: ENSMUSP00000070557
Gene: ENSMUSG00000054759
AA Change: G74*

DomainStartEndE-ValueType
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*

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,793,797 I29T probably damaging Het
5830411N06Rik T C 7: 140,274,127 C348R probably damaging Het
Agps G A 2: 75,909,701 probably null Het
Agxt2 A G 15: 10,393,708 probably null Het
Ahnak T C 19: 9,014,909 V4519A possibly damaging Het
Aktip T C 8: 91,126,225 D159G probably damaging Het
Ankrd44 T C 1: 54,766,966 I94V probably damaging Het
Asph T C 4: 9,474,904 E674G possibly damaging Het
Atat1 T A 17: 35,908,843 probably benign Het
Ccar1 G A 10: 62,790,935 A20V possibly damaging Het
Cdc26 T C 4: 62,402,764 D14G probably damaging Het
Cdh15 T C 8: 122,859,350 F156S probably damaging Het
Dctn1 A G 6: 83,191,344 T525A possibly damaging Het
Dnah8 T G 17: 30,855,895 probably benign Het
Dnajc10 T A 2: 80,321,304 probably benign Het
Dtl C A 1: 191,568,377 W125L probably damaging Het
Fam3c G A 6: 22,318,955 T149I probably damaging Het
Fgd6 A G 10: 94,138,308 T1304A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm6578 A G 6: 12,099,767 noncoding transcript Het
Gnai1 A G 5: 18,273,570 F199S probably damaging Het
Grb7 T A 11: 98,454,654 V480D probably damaging Het
Hdc A G 2: 126,594,532 L473P possibly damaging Het
Hmcn1 T C 1: 150,603,871 N4614S probably benign Het
Il20ra A G 10: 19,759,043 D344G probably benign Het
Ints1 C T 5: 139,760,088 R1342Q possibly damaging Het
Itga9 T A 9: 118,636,494 probably benign Het
Kat14 T C 2: 144,394,365 L339P probably damaging Het
Klhl22 A G 16: 17,776,462 I152V probably benign Het
Lrrc59 C A 11: 94,638,528 probably null Het
Map3k13 A G 16: 21,892,123 Q52R probably benign Het
Mb21d2 A G 16: 28,827,743 probably benign Het
Mphosph9 A T 5: 124,324,990 probably benign Het
Myrf A G 19: 10,210,378 probably benign Het
Nek11 T C 9: 105,300,303 T250A probably benign Het
Nek5 A T 8: 22,096,826 V323E probably benign Het
Nfasc A T 1: 132,608,438 C586* probably null Het
Nup210l T A 3: 90,203,924 L1711Q possibly damaging Het
Parp8 T G 13: 116,876,572 K644Q probably benign Het
Pcnt G T 10: 76,433,679 Q252K probably damaging Het
Pianp A G 6: 125,000,683 T181A possibly damaging Het
Pkd1 T C 17: 24,580,324 V2839A probably damaging Het
Poli C T 18: 70,526,586 R58H possibly damaging Het
Ptk7 T C 17: 46,579,427 D447G probably benign Het
Rapgef5 A G 12: 117,730,651 I637V probably benign Het
Rasip1 A T 7: 45,636,764 R804* probably null Het
Relt A G 7: 100,851,143 V113A probably benign Het
Rnf215 G T 11: 4,140,317 C345F probably damaging Het
Scn2a A G 2: 65,701,829 D595G probably damaging Het
Serpina3k G A 12: 104,341,057 V183M probably damaging Het
Snapc4 T C 2: 26,366,440 probably benign Het
Sparcl1 A T 5: 104,092,540 D339E probably benign Het
Tg T C 15: 66,759,486 F535L probably benign Het
Zbtb45 C A 7: 13,006,276 A471S probably benign Het
Zfp106 T A 2: 120,534,807 K373M probably benign Het
Other mutations in Krtap5-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02064:Krtap5-2 APN 7 142175731 missense unknown
IGL03214:Krtap5-2 APN 7 142175014 missense unknown
IGL03326:Krtap5-2 APN 7 142175363 nonsense probably null
R1196:Krtap5-2 UTSW 7 142174883 nonsense probably null
R2327:Krtap5-2 UTSW 7 142175011 missense unknown
R5166:Krtap5-2 UTSW 7 142174984 missense unknown
R5723:Krtap5-2 UTSW 7 142175005 missense unknown
R6356:Krtap5-2 UTSW 7 142175382 intron probably benign
R6364:Krtap5-2 UTSW 7 142175063 nonsense probably null
R6593:Krtap5-2 UTSW 7 142174960 missense unknown
R7193:Krtap5-2 UTSW 7 142175243 small deletion probably benign
R7740:Krtap5-2 UTSW 7 142174962 missense unknown
R7748:Krtap5-2 UTSW 7 142175108 critical splice acceptor site probably benign
R7753:Krtap5-2 UTSW 7 142175399 small deletion probably benign
R8307:Krtap5-2 UTSW 7 142174849 missense unknown
R8446:Krtap5-2 UTSW 7 142175108 critical splice acceptor site probably benign
Z1177:Krtap5-2 UTSW 7 142175781 missense unknown
Posted On2014-05-07