Incidental Mutation 'IGL01306:Krtap15'
ID73437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap15
Ensembl Gene ENSMUSG00000022931
Gene Namekeratin associated protein 15
SynonymsPmg-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01306
Quality Score
Status
Chromosome16
Chromosomal Location88820215-88829844 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 88829367 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 88 (F88L)
Ref Sequence ENSEMBL: ENSMUSP00000023648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023648] [ENSMUST00000099562] [ENSMUST00000187823] [ENSMUST00000189774]
Predicted Effect probably benign
Transcript: ENSMUST00000023648
AA Change: F88L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000023648
Gene: ENSMUSG00000022931
AA Change: F88L

DomainStartEndE-ValueType
Pfam:PMG 1 126 1.8e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099562
SMART Domains Protein: ENSMUSP00000136883
Gene: ENSMUSG00000074928

DomainStartEndE-ValueType
Pfam:PMG 1 67 5.7e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187823
AA Change: F107L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000140888
Gene: ENSMUSG00000022931
AA Change: F107L

DomainStartEndE-ValueType
Pfam:PMG 1 145 3.3e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189774
SMART Domains Protein: ENSMUSP00000139983
Gene: ENSMUSG00000074928

DomainStartEndE-ValueType
Pfam:PMG 1 166 1.3e-53 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,005,013 probably benign Het
Abhd12b G A 12: 70,169,048 G88S probably damaging Het
Acot10 A G 15: 20,665,965 F230S probably benign Het
Ago4 T C 4: 126,515,884 probably null Het
Akap12 G T 10: 4,353,273 A28S probably benign Het
Anks1 C A 17: 27,986,253 T262K probably damaging Het
Arfgap3 A G 15: 83,313,509 Y349H possibly damaging Het
Camsap2 T A 1: 136,297,790 E199D probably benign Het
Ccdc13 A T 9: 121,827,363 M128K probably benign Het
Ccdc38 T C 10: 93,569,935 probably null Het
Cep95 G A 11: 106,813,815 V499I probably benign Het
Cpne6 A T 14: 55,515,249 I299F probably damaging Het
Cse1l T A 2: 166,927,508 Y278* probably null Het
Dip2c A G 13: 9,575,143 N558D possibly damaging Het
Edar A T 10: 58,628,638 C60S probably damaging Het
Fat2 T C 11: 55,310,872 N459D probably benign Het
Fbxw8 C T 5: 118,113,720 V243M possibly damaging Het
Fem1b G A 9: 62,797,528 A150V possibly damaging Het
Gal3st1 A G 11: 3,998,405 Y204C probably damaging Het
Gm5422 A T 10: 31,249,436 noncoding transcript Het
Grin2c T C 11: 115,256,194 T392A probably benign Het
Itpk1 T C 12: 102,606,103 E117G probably damaging Het
Kif12 G T 4: 63,165,884 P627Q probably damaging Het
Mlh1 T C 9: 111,252,912 N248D possibly damaging Het
Olfr617 T C 7: 103,584,693 Y224H probably damaging Het
Olfr727 A G 14: 50,126,582 N2D probably benign Het
Olfr94 T C 17: 37,196,942 N342S probably benign Het
Per2 T C 1: 91,448,833 H106R probably damaging Het
Pfkl T A 10: 77,991,395 T486S probably benign Het
Prkdc T C 16: 15,667,731 V474A possibly damaging Het
Scamp4 C A 10: 80,609,422 Q34K probably damaging Het
Serpinb3b A G 1: 107,154,665 Y290H probably damaging Het
Sft2d2 G T 1: 165,183,995 A110E probably benign Het
Siglecf T A 7: 43,351,953 L115* probably null Het
Slc6a11 C T 6: 114,134,665 T103M probably damaging Het
Slco1a1 T A 6: 141,946,587 K18* probably null Het
Spata1 A T 3: 146,487,399 Y112* probably null Het
Tbc1d32 G A 10: 56,180,524 T440I probably benign Het
Vmn2r111 T A 17: 22,568,984 E462V probably damaging Het
Wnt16 C T 6: 22,297,935 R267C probably damaging Het
Xylt1 A C 7: 117,548,890 S230R probably benign Het
Other mutations in Krtap15
AlleleSourceChrCoordTypePredicted EffectPPH Score
ANU23:Krtap15 UTSW 16 88829367 missense probably benign 0.32
R4909:Krtap15 UTSW 16 88829365 missense probably benign 0.32
R4924:Krtap15 UTSW 16 88829148 missense probably damaging 1.00
R5033:Krtap15 UTSW 16 88829156 missense probably damaging 1.00
R7251:Krtap15 UTSW 16 88829094 splice site probably null
R7317:Krtap15 UTSW 16 88829305 missense probably benign 0.14
R7393:Krtap15 UTSW 16 88829097 critical splice donor site probably null
R8015:Krtap15 UTSW 16 88829209 missense possibly damaging 0.71
Posted On2013-10-07