Incidental Mutation 'R0038:Krtap9-5'
ID18586
Institutional Source Beutler Lab
Gene Symbol Krtap9-5
Ensembl Gene ENSMUSG00000078255
Gene Namekeratin associated protein 9-5
SynonymsOTTMUSG00000002205
MMRRC Submission 038332-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #R0038 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location99948475-99949551 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 99948602 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 43 (C43Y)
Ref Sequence ENSEMBL: ENSMUSP00000100673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105052]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105052
AA Change: C43Y

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100673
Gene: ENSMUSG00000078255
AA Change: C43Y

DomainStartEndE-ValueType
internal_repeat_3 4 21 5.14e-6 PROSPERO
internal_repeat_2 5 26 9e-8 PROSPERO
low complexity region 37 48 N/A INTRINSIC
Pfam:Keratin_B2_2 52 94 2.7e-9 PFAM
Pfam:Keratin_B2_2 75 128 2e-5 PFAM
Pfam:Keratin_B2_2 125 169 1.7e-9 PFAM
Pfam:Keratin_B2_2 198 245 6.7e-9 PFAM
Pfam:Keratin_B2_2 241 288 1.1e-8 PFAM
Pfam:Keratin_B2_2 284 317 5.6e-7 PFAM
Pfam:Keratin_B2_2 313 357 1.5e-5 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 83.6%
  • 3x: 76.1%
  • 10x: 58.6%
  • 20x: 40.4%
Validation Efficiency 91% (67/74)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg1 T C 1: 82,886,102 probably benign Het
Ahnak2 T C 12: 112,774,462 T253A probably benign Het
Ankrd28 A T 14: 31,708,035 M892K probably damaging Het
Arhgef25 T C 10: 127,186,865 probably benign Het
Cldn8 A G 16: 88,563,034 M1T probably null Het
Clec11a A G 7: 44,306,482 probably benign Het
Ddx39 T C 8: 83,722,498 L305P probably damaging Het
Depdc5 A G 5: 32,868,853 E60G probably benign Het
Etl4 A T 2: 20,743,574 H39L probably damaging Het
Gramd1b G A 9: 40,317,526 T252M probably damaging Het
Hcrtr2 A T 9: 76,259,681 S125T probably benign Het
Htr2a T G 14: 74,706,247 S422R probably benign Het
Kirrel3 T A 9: 34,911,770 probably null Het
Lama2 T C 10: 26,986,797 D2990G probably benign Het
Ncor1 A G 11: 62,392,551 F437L probably damaging Het
Nlrp1b A G 11: 71,172,171 S685P possibly damaging Het
Oog4 T C 4: 143,438,944 D211G probably benign Het
Pcdh15 A T 10: 74,643,440 E723V possibly damaging Het
Pgm3 A T 9: 86,564,673 probably benign Het
Pnpla5 A G 15: 84,122,513 Y90H probably damaging Het
Polr1b C T 2: 129,115,668 R548* probably null Het
Rnf168 T C 16: 32,298,995 V458A probably benign Het
Rnf32 T C 5: 29,205,654 probably benign Het
Sclt1 T C 3: 41,629,508 probably benign Het
Serpina12 A G 12: 104,037,957 F139L probably damaging Het
Stag3 T A 5: 138,301,036 probably null Het
Stard5 T C 7: 83,636,743 probably benign Het
Suclg1 A G 6: 73,260,503 E77G probably benign Het
Ush2a G T 1: 188,626,612 G2112C probably benign Het
Zfp644 T G 5: 106,635,043 E1155A probably benign Het
Other mutations in Krtap9-5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Krtap9-5 APN 11 99948465 unclassified probably benign
IGL01105:Krtap9-5 APN 11 99948633 missense unknown
IGL01673:Krtap9-5 APN 11 99949551 makesense probably null
IGL02931:Krtap9-5 APN 11 99949105 missense unknown
IGL03340:Krtap9-5 APN 11 99948601 missense possibly damaging 0.86
R1067:Krtap9-5 UTSW 11 99948763 missense unknown
R2051:Krtap9-5 UTSW 11 99949204 missense unknown
R2102:Krtap9-5 UTSW 11 99949444 missense unknown
R4689:Krtap9-5 UTSW 11 99949460 missense unknown
R5076:Krtap9-5 UTSW 11 99949468 missense unknown
R5807:Krtap9-5 UTSW 11 99949069 missense unknown
R7468:Krtap9-5 UTSW 11 99949306 missense unknown
R7485:Krtap9-5 UTSW 11 99948974 missense unknown
X0050:Krtap9-5 UTSW 11 99948941 missense unknown
Posted On2013-03-25