Incidental Mutation 'IGL03226:B020004J07Rik'
ID414836
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? Probably non essential (E-score: 0.051) question?
Stock #IGL03226
Quality Score
Status
Chromosome4
Chromosomal Location101834969-101844023 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101835397 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 469 (T469S)
Ref Sequence ENSEMBL: ENSMUSP00000102532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084386] [ENSMUST00000106919]
Predicted Effect probably benign
Transcript: ENSMUST00000084386
AA Change: T469S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000081421
Gene: ENSMUSG00000035201
AA Change: T469S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 219 405 2e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106919
AA Change: T469S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102532
Gene: ENSMUSG00000035201
AA Change: T469S

DomainStartEndE-ValueType
SCOP:d1a4ya_ 219 405 2e-10 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A G 14: 70,157,609 V32A probably damaging Het
Als2 T C 1: 59,186,520 T944A probably benign Het
Bcat2 T A 7: 45,588,354 V348E probably damaging Het
Bnip2 A G 9: 69,996,174 D36G probably benign Het
C2cd5 T A 6: 143,072,566 D310V possibly damaging Het
Cltc G A 11: 86,720,287 T582M probably damaging Het
Dync2h1 T C 9: 7,125,918 H1896R probably benign Het
Efcab5 T C 11: 77,137,675 R413G possibly damaging Het
Fam131b C T 6: 42,318,954 M169I possibly damaging Het
Fam241b A G 10: 62,109,892 S52P probably benign Het
Fam35a T C 14: 34,268,371 T193A probably benign Het
Gpd2 G A 2: 57,304,486 probably null Het
Gucy1a1 T A 3: 82,119,024 Q41L probably benign Het
Ifna16 T C 4: 88,676,504 D118G probably benign Het
Kcnn1 T C 8: 70,846,491 probably benign Het
Lman1l A T 9: 57,610,007 Y365N probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Lyst A T 13: 13,709,559 H2984L probably benign Het
Myh7b C T 2: 155,620,483 Q369* probably null Het
Nalcn A C 14: 123,281,115 W1671G probably benign Het
Ndrg2 G A 14: 51,906,569 probably benign Het
Nfia C A 4: 98,063,049 P371Q probably damaging Het
Olfr975 A C 9: 39,950,423 probably null Het
Pcdhb22 A G 18: 37,518,956 D159G probably damaging Het
Plekhm3 A T 1: 64,921,800 D432E possibly damaging Het
Rab2a A G 4: 8,606,448 N195S probably benign Het
Sbf1 A G 15: 89,289,105 Y1764H possibly damaging Het
Scap A G 9: 110,384,267 T1127A possibly damaging Het
Slc45a2 A G 15: 11,022,192 D340G probably damaging Het
Tbc1d23 A T 16: 57,214,262 L58Q probably damaging Het
Tmcc1 T C 6: 116,133,976 T119A probably damaging Het
Tnfsf10 C A 3: 27,335,448 Y219* probably null Het
Traip G A 9: 107,970,993 R437Q probably damaging Het
Tyw3 T C 3: 154,587,550 T163A possibly 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
IGL02548:B020004J07Rik APN 4 101835573 missense probably damaging 0.99
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 On2016-08-02