Incidental Mutation 'IGL01083:B020004J07Rik'
ID50869
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 #IGL01083
Quality Score
Status
Chromosome4
Chromosomal Location101834969-101844023 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101835532 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 424 (M424L)
Ref Sequence ENSEMBL: ENSMUSP00000102532 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084386] [ENSMUST00000106919]
Predicted Effect probably benign
Transcript: ENSMUST00000084386
AA Change: M424L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081421
Gene: ENSMUSG00000035201
AA Change: M424L

DomainStartEndE-ValueType
SCOP:d1a4ya_ 219 405 2e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106919
AA Change: M424L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102532
Gene: ENSMUSG00000035201
AA Change: M424L

DomainStartEndE-ValueType
SCOP:d1a4ya_ 219 405 2e-10 SMART
Meta Mutation Damage Score 0.1356 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T C 15: 64,787,342 D533G probably benign Het
Adgb A G 10: 10,407,554 V136A possibly damaging Het
Aggf1 A G 13: 95,356,409 V564A probably damaging Het
Atp1a2 T C 1: 172,284,619 T570A probably benign Het
Bicdl2 A G 17: 23,668,131 Q464R probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Chd8 C A 14: 52,221,420 R792L probably damaging Het
Crybg2 A T 4: 134,075,444 I844F possibly damaging Het
Dock4 G A 12: 40,788,381 probably benign Het
Ergic2 T C 6: 148,195,271 T166A probably benign Het
Flrt2 A T 12: 95,780,347 R486S probably benign Het
Flt3 T C 5: 147,354,870 Y590C probably damaging Het
Fubp1 A G 3: 152,222,234 E441G probably damaging Het
Gfpt1 A G 6: 87,054,696 S107G probably damaging Het
Klra9 A G 6: 130,189,766 L45P possibly damaging Het
Mfsd5 A G 15: 102,281,090 Y299C probably damaging Het
Myo5b T A 18: 74,733,903 probably benign Het
Obscn G A 11: 59,036,093 T5532M probably damaging Het
Olfr209 G A 16: 59,361,835 P128S probably damaging Het
Palld A G 8: 61,538,807 S165P probably benign Het
Prokr1 A T 6: 87,588,784 H26Q probably benign Het
Prrc2a G T 17: 35,156,201 R1158S possibly damaging Het
Rasgrp1 A G 2: 117,285,068 W680R probably benign Het
Ryr3 A G 2: 112,751,846 probably benign Het
Sars A G 3: 108,426,858 L528P probably damaging Het
Serpinb3b T A 1: 107,157,743 L89F possibly damaging Het
Slc38a6 T C 12: 73,288,493 V70A possibly damaging Het
Son G A 16: 91,657,391 E1009K probably damaging Het
Thoc3 A C 13: 54,467,820 probably benign Het
Tlk2 T A 11: 105,221,224 C88S probably benign Het
Tmem182 T A 1: 40,805,817 F21Y probably damaging Het
Tmem214 G A 5: 30,876,093 V557M probably benign Het
Zfp507 T C 7: 35,794,038 T527A probably benign Het
Other mutations in B020004J07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2013-06-21