Incidental Mutation 'IGL01660:Ankub1'
ID103137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankub1
Ensembl Gene ENSMUSG00000074591
Gene Nameankrin repeat and ubiquitin domain containing 1
SynonymsGm410, LOC242037
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01660
Quality Score
Status
Chromosome3
Chromosomal Location57657393-57692799 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 57690396 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 51 (Y51F)
Ref Sequence ENSEMBL: ENSMUSP00000142589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099091] [ENSMUST00000197088] [ENSMUST00000200665]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099091
AA Change: Y51F

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096689
Gene: ENSMUSG00000074591
AA Change: Y51F

DomainStartEndE-ValueType
Blast:UBQ 1 78 3e-41 BLAST
SCOP:d1euvb_ 1 78 3e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000197088
AA Change: Y51F

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: Y51F

DomainStartEndE-ValueType
Blast:UBQ 1 78 5e-40 BLAST
ANK 191 220 6.7e-2 SMART
Blast:ANK 239 268 5e-12 BLAST
ANK 273 303 2.6e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200665
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik A T 19: 45,940,476 L393H probably damaging Het
Acta2 A G 19: 34,251,791 I66T probably damaging Het
Actl11 T C 9: 107,929,048 V190A probably benign Het
Ccdc63 G A 5: 122,110,964 S434L possibly damaging Het
Cdan1 T A 2: 120,725,653 I711F possibly damaging Het
Cep170b C A 12: 112,744,160 N1474K probably damaging Het
Cyp2c40 A G 19: 39,786,810 S333P probably damaging Het
Dars A G 1: 128,415,344 probably benign Het
Dock3 T A 9: 107,032,364 probably benign Het
Dsp A G 13: 38,176,495 I359V possibly damaging Het
Fut8 T G 12: 77,450,258 L414* probably null Het
Gja1 A G 10: 56,388,448 Y301C probably damaging Het
Glipr1l1 T C 10: 112,072,279 S161P probably damaging Het
Gpat4 A T 8: 23,175,338 probably null Het
Grhl1 T A 12: 24,608,578 probably null Het
Hectd3 T C 4: 116,996,372 V181A possibly damaging Het
Htr2a T A 14: 74,705,754 I258N probably damaging Het
Hyou1 T A 9: 44,381,117 D83E possibly damaging Het
Myh10 T A 11: 68,785,889 L862Q probably benign Het
Nkx2-2 T C 2: 147,185,913 S36G probably benign Het
Nsun2 T A 13: 69,623,249 V326E probably benign Het
Nuak2 T C 1: 132,331,570 V362A probably benign Het
Nyap2 G A 1: 81,191,927 C133Y probably damaging Het
Oas2 T C 5: 120,741,223 T351A probably benign Het
Olfr1025-ps1 T C 2: 85,918,564 I213T probably benign Het
Olfr279 C T 15: 98,498,195 T241I probably damaging Het
Pde4d A T 13: 109,938,072 I404F probably damaging Het
Pga5 A G 19: 10,675,092 S95P probably damaging Het
Pitpnm2 A T 5: 124,123,194 D947E probably damaging Het
Pla2g10 C T 16: 13,728,086 R28H probably damaging Het
Prlr A G 15: 10,317,590 D84G probably damaging Het
Rbm15b C T 9: 106,885,709 G420D probably damaging Het
Tbcd A G 11: 121,605,327 T1063A probably benign Het
Tmc2 C T 2: 130,260,224 Q770* probably null Het
Tpo T C 12: 30,119,400 probably benign Het
Vim A G 2: 13,574,813 N128D probably damaging Het
Vmn1r21 A T 6: 57,844,237 I74N probably damaging Het
Vmn2r52 A C 7: 10,159,180 I677M probably damaging Het
Other mutations in Ankub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03137:Ankub1 APN 3 57690357 missense probably damaging 1.00
R0506:Ankub1 UTSW 3 57690375 missense probably damaging 0.97
R0892:Ankub1 UTSW 3 57690379 missense probably benign 0.24
R2073:Ankub1 UTSW 3 57692292 missense possibly damaging 0.68
R2104:Ankub1 UTSW 3 57672875 nonsense probably null
R4869:Ankub1 UTSW 3 57690330 missense probably damaging 1.00
R5714:Ankub1 UTSW 3 57672837 missense probably benign 0.41
R6229:Ankub1 UTSW 3 57665107 missense probably benign 0.00
R6929:Ankub1 UTSW 3 57665433 nonsense probably null
R7086:Ankub1 UTSW 3 57690325 missense probably damaging 0.99
R7200:Ankub1 UTSW 3 57672985 missense probably benign 0.00
R7290:Ankub1 UTSW 3 57672924 missense probably damaging 1.00
R7305:Ankub1 UTSW 3 57692517 start gained probably benign
R7336:Ankub1 UTSW 3 57665687 missense probably benign 0.00
R7407:Ankub1 UTSW 3 57665203 missense probably benign
R7566:Ankub1 UTSW 3 57665618 nonsense probably null
R7569:Ankub1 UTSW 3 57665618 nonsense probably null
R7872:Ankub1 UTSW 3 57665386 missense probably damaging 1.00
R8177:Ankub1 UTSW 3 57690416 missense possibly damaging 0.82
Posted On2014-01-21