Incidental Mutation 'IGL02419:4933402J07Rik'
ID292591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933402J07Rik
Ensembl Gene ENSMUSG00000069971
Gene NameRIKEN cDNA 4933402J07 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.046) question?
Stock #IGL02419
Quality Score
Status
Chromosome8
Chromosomal Location87563853-87589424 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87586099 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 171 (F171L)
Ref Sequence ENSEMBL: ENSMUSP00000091033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093342]
Predicted Effect possibly damaging
Transcript: ENSMUST00000093342
AA Change: F171L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091033
Gene: ENSMUSG00000069971
AA Change: F171L

DomainStartEndE-ValueType
Pfam:DUF4638 1 269 3e-125 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,446,837 N2291D probably benign Het
Adamts9 A G 6: 92,796,997 V1145A probably benign Het
Adcy2 A G 13: 68,982,363 V135A probably benign Het
Akr1c14 A T 13: 4,080,617 probably null Het
Aptx G T 4: 40,691,032 A229E probably benign Het
Ash1l T C 3: 88,985,565 S1584P probably benign Het
Catsper3 A T 13: 55,808,068 T329S possibly damaging Het
Cntrl A G 2: 35,134,043 D27G probably damaging Het
Cobll1 A T 2: 65,151,048 I98K probably damaging Het
Ctdp1 T C 18: 80,420,584 K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 probably null Het
Cyp11b2 A T 15: 74,851,055 F498Y probably damaging Het
Dnpep A G 1: 75,315,688 I162T probably damaging Het
Efcab9 T C 11: 32,522,950 I166V probably benign Het
Ep400 A T 5: 110,697,376 probably null Het
Gata6 G A 18: 11,054,220 G50R probably damaging Het
Gm9631 G A 11: 121,943,652 Het
Grifin T C 5: 140,564,700 T20A probably benign Het
Hnf4a A T 2: 163,566,282 I352F probably damaging Het
Ifi204 T C 1: 173,749,380 T552A possibly damaging Het
Ifi205 C T 1: 174,017,614 A201T probably damaging Het
Kcnk6 A G 7: 29,225,202 V259A probably benign Het
Kif21b A G 1: 136,151,267 N451S probably benign Het
Klhl24 T A 16: 20,107,368 Y215* probably null Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mical1 A G 10: 41,482,277 K429E possibly damaging Het
Misp A G 10: 79,827,871 probably benign Het
Mon2 T C 10: 123,016,447 N1007S probably benign Het
Olfr1420 A T 19: 11,896,822 Y267F probably benign Het
Olfr228 T A 2: 86,482,915 I276F probably damaging Het
Olfr307 C A 7: 86,335,662 V245F probably damaging Het
Olfr624 A T 7: 103,670,475 C185* probably null Het
Pex6 C A 17: 46,724,435 T840N possibly damaging Het
Prox1 C T 1: 190,161,130 A373T probably benign Het
Rapgef3 G T 15: 97,750,290 N679K probably benign Het
Serpina3n T C 12: 104,413,518 V390A possibly damaging Het
Sirpb1a A G 3: 15,426,338 F23S probably benign Het
Slc44a3 T C 3: 121,490,257 T449A probably benign Het
Smad6 G A 9: 63,953,518 probably benign Het
Sos2 C T 12: 69,616,990 M573I probably benign Het
St8sia1 A T 6: 142,828,935 I306N probably damaging Het
Tnks1bp1 T C 2: 85,071,781 S1674P possibly damaging Het
Trim47 G A 11: 116,106,201 R576W probably damaging Het
Wdr86 A T 5: 24,722,704 I79N probably damaging Het
Wwp2 T A 8: 107,549,815 V473D probably damaging Het
Zc3h12a T C 4: 125,119,788 T428A probably benign Het
Zfp592 A G 7: 81,038,245 E973G probably damaging Het
Other mutations in 4933402J07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02896:4933402J07Rik APN 8 87589020 missense probably damaging 0.99
R1755:4933402J07Rik UTSW 8 87588957 missense possibly damaging 0.73
R1848:4933402J07Rik UTSW 8 87568493 nonsense probably null
R2150:4933402J07Rik UTSW 8 87586063 nonsense probably null
R4832:4933402J07Rik UTSW 8 87567973 missense probably null 0.95
R5604:4933402J07Rik UTSW 8 87568497 missense possibly damaging 0.80
R6470:4933402J07Rik UTSW 8 87564028 missense probably benign 0.00
Posted On2015-04-16