Incidental Mutation 'IGL02548:B020004J07Rik'
ID297938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B020004J07Rik
Ensembl Gene ENSMUSG00000035201
Gene NameRIKEN cDNA B020004J07 gene
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02548
Quality Score
Status
Chromosome4
Chromosomal Location101834969-101844023 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101835573 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 410 (Y410F)
Ref Sequence ENSEMBL: ENSMUSP00000102532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084386] [ENSMUST00000106919]
Predicted Effect probably damaging
Transcript: ENSMUST00000084386
AA Change: Y410F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000081421
Gene: ENSMUSG00000035201
AA Change: Y410F

DomainStartEndE-ValueType
SCOP:d1a4ya_ 219 405 2e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106919
AA Change: Y410F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102532
Gene: ENSMUSG00000035201
AA Change: Y410F

DomainStartEndE-ValueType
SCOP:d1a4ya_ 219 405 2e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 46,005,262 A545V probably damaging Het
Adam29 A T 8: 55,872,867 L184* probably null Het
Ap1g1 C T 8: 109,849,622 A432V probably damaging Het
Atrn C T 2: 130,972,282 T716I probably damaging Het
Bahd1 C A 2: 118,917,045 Q382K possibly damaging Het
Barhl2 A G 5: 106,455,525 V256A probably benign Het
Camta2 A G 11: 70,670,685 F1113L probably damaging Het
Cdh23 G T 10: 60,650,122 T38K probably benign Het
Cmtm3 T C 8: 104,344,805 L111P probably damaging Het
Col27a1 T C 4: 63,318,255 probably benign Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Flt1 C A 5: 147,639,248 R650L probably benign Het
Fpr1 T A 17: 17,876,653 E358V probably benign Het
Ggnbp2 A T 11: 84,862,286 N42K possibly damaging Het
Gldc T C 19: 30,099,899 T958A probably benign Het
Gm3573 A G 14: 42,187,495 probably null Het
Hspbp1 T C 7: 4,681,841 probably benign Het
Jhy G T 9: 40,917,175 Y478* probably null Het
Kiz A G 2: 146,870,770 E118G probably damaging Het
Klhdc1 A G 12: 69,253,718 Y144C probably benign Het
Lamc3 A T 2: 31,920,662 Y848F probably benign Het
Mixl1 T C 1: 180,694,704 E204G probably benign Het
Muc2 T A 7: 141,751,857 C202S probably damaging Het
Nfatc1 T C 18: 80,697,898 S282G probably damaging Het
Olfr1465 T C 19: 13,313,938 M116V probably damaging Het
Olfr175-ps1 C A 16: 58,824,328 C127F probably benign Het
Olfr531 T A 7: 140,400,662 Y128F probably damaging Het
Orc2 A T 1: 58,466,122 probably benign Het
Pcdhb10 T C 18: 37,412,690 I273T probably benign Het
Pdzph1 G A 17: 58,973,391 T632I probably benign Het
Phf1 A G 17: 26,935,626 Y225C probably damaging Het
Prcp T C 7: 92,901,174 F60L probably damaging Het
Psg21 C T 7: 18,655,036 V44I possibly damaging Het
Ptgdr C T 14: 44,858,614 V214M probably damaging Het
Pth1r G A 9: 110,727,680 R181W probably damaging Het
Ralgapb A G 2: 158,444,665 I343M probably damaging Het
Retreg1 C T 15: 25,895,118 Q128* probably null Het
Rrbp1 T C 2: 143,949,759 probably benign Het
Skint5 T A 4: 113,731,076 M726L unknown Het
Slc6a18 T C 13: 73,669,995 Y301C probably damaging Het
Slc8a3 G A 12: 81,204,156 probably benign Het
Tacr3 C A 3: 134,829,471 Q67K probably damaging Het
Tfrc A T 16: 32,624,822 K534* probably null Het
Timp3 T A 10: 86,338,451 M67K probably benign Het
Tmem120a C T 5: 135,736,774 E179K probably damaging Het
Tomm40l G A 1: 171,221,647 probably benign Het
Tubal3 A G 13: 3,930,554 R89G probably benign Het
Wdr35 A T 12: 9,024,297 N976I probably benign Het
Zfp292 T C 4: 34,805,416 T2543A probably damaging Het
Zfp976 T A 7: 42,612,529 H628L unknown Het
Zmynd8 A G 2: 165,833,405 V301A probably damaging Het
Other mutations in B020004J07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01083:B020004J07Rik APN 4 101835532 missense probably benign
IGL01615:B020004J07Rik APN 4 101837004 missense possibly damaging 0.63
IGL01765:B020004J07Rik APN 4 101837852 missense probably benign 0.03
IGL02228:B020004J07Rik APN 4 101836858 missense probably benign 0.03
IGL02276:B020004J07Rik APN 4 101838109 missense possibly damaging 0.89
IGL03226:B020004J07Rik APN 4 101835397 missense probably benign 0.00
R0124:B020004J07Rik UTSW 4 101835373 makesense probably null
R0449:B020004J07Rik UTSW 4 101836961 missense probably benign 0.01
R0573:B020004J07Rik UTSW 4 101835414 missense probably damaging 0.96
R1159:B020004J07Rik UTSW 4 101838027 missense possibly damaging 0.54
R1689:B020004J07Rik UTSW 4 101837179 missense possibly damaging 0.63
R1857:B020004J07Rik UTSW 4 101835573 missense probably damaging 1.00
R1861:B020004J07Rik UTSW 4 101836938 missense probably benign
R2570:B020004J07Rik UTSW 4 101837246 missense probably benign 0.01
R3886:B020004J07Rik UTSW 4 101835723 missense probably benign 0.09
R4922:B020004J07Rik UTSW 4 101835532 missense probably benign
R4984:B020004J07Rik UTSW 4 101835599 missense possibly damaging 0.63
R5503:B020004J07Rik UTSW 4 101835802 missense probably benign 0.00
R6230:B020004J07Rik UTSW 4 101837214 missense probably damaging 0.96
R6831:B020004J07Rik UTSW 4 101836897 missense probably benign 0.26
R7172:B020004J07Rik UTSW 4 101836996 missense probably benign 0.00
R7201:B020004J07Rik UTSW 4 101838141 critical splice acceptor site probably null
R7220:B020004J07Rik UTSW 4 101837368 missense probably benign 0.00
R7253:B020004J07Rik UTSW 4 101835528 missense probably benign 0.31
Posted On2015-04-16