Incidental Mutation 'IGL02419:4933402J07Rik'
ID 292591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4933402J07Rik
Ensembl Gene ENSMUSG00000069971
Gene Name RIKEN cDNA 4933402J07 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL02419
Quality Score
Status
Chromosome 8
Chromosomal Location 88290535-88315825 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88312727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 171 (F171L)
Ref Sequence ENSEMBL: ENSMUSP00000091033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093342]
AlphaFold Q8BHX0
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: 25,336,849 (GRCm39) N2291D probably benign Het
Adamts9 A G 6: 92,773,978 (GRCm39) V1145A probably benign Het
Adcy2 A G 13: 69,130,482 (GRCm39) V135A probably benign Het
Akr1c14 A T 13: 4,130,617 (GRCm39) probably null Het
Aptx G T 4: 40,691,032 (GRCm39) A229E probably benign Het
Ash1l T C 3: 88,892,872 (GRCm39) S1584P probably benign Het
Catsper3 A T 13: 55,955,881 (GRCm39) T329S possibly damaging Het
Cntrl A G 2: 35,024,055 (GRCm39) D27G probably damaging Het
Cobll1 A T 2: 64,981,392 (GRCm39) I98K probably damaging Het
Ctdp1 T C 18: 80,463,799 (GRCm39) K79R probably damaging Het
Cwf19l2 T C 9: 3,418,777 (GRCm39) probably null Het
Cyp11b2 A T 15: 74,722,904 (GRCm39) F498Y probably damaging Het
Dnpep A G 1: 75,292,332 (GRCm39) I162T probably damaging Het
Efcab9 T C 11: 32,472,950 (GRCm39) I166V probably benign Het
Ep400 A T 5: 110,845,242 (GRCm39) probably null Het
Gata6 G A 18: 11,054,220 (GRCm39) G50R probably damaging Het
Gm9631 G A 11: 121,834,478 (GRCm39) Het
Grifin T C 5: 140,550,455 (GRCm39) T20A probably benign Het
Hnf4a A T 2: 163,408,202 (GRCm39) I352F probably damaging Het
Ifi204 T C 1: 173,576,946 (GRCm39) T552A possibly damaging Het
Ifi205 C T 1: 173,845,180 (GRCm39) A201T probably damaging Het
Kcnk6 A G 7: 28,924,627 (GRCm39) V259A probably benign Het
Kif21b A G 1: 136,079,005 (GRCm39) N451S probably benign Het
Klhl24 T A 16: 19,926,118 (GRCm39) Y215* probably null Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mical1 A G 10: 41,358,273 (GRCm39) K429E possibly damaging Het
Misp A G 10: 79,663,705 (GRCm39) probably benign Het
Mon2 T C 10: 122,852,352 (GRCm39) N1007S probably benign Het
Or10v1 A T 19: 11,874,186 (GRCm39) Y267F probably benign Het
Or14a260 C A 7: 85,984,870 (GRCm39) V245F probably damaging Het
Or51v8 A T 7: 103,319,682 (GRCm39) C185* probably null Het
Or8k41 T A 2: 86,313,259 (GRCm39) I276F probably damaging Het
Pex6 C A 17: 47,035,361 (GRCm39) T840N possibly damaging Het
Prox1 C T 1: 189,893,327 (GRCm39) A373T probably benign Het
Rapgef3 G T 15: 97,648,171 (GRCm39) N679K probably benign Het
Serpina3n T C 12: 104,379,777 (GRCm39) V390A possibly damaging Het
Sirpb1a A G 3: 15,491,398 (GRCm39) F23S probably benign Het
Slc44a3 T C 3: 121,283,906 (GRCm39) T449A probably benign Het
Smad6 G A 9: 63,860,800 (GRCm39) probably benign Het
Sos2 C T 12: 69,663,764 (GRCm39) M573I probably benign Het
St8sia1 A T 6: 142,774,661 (GRCm39) I306N probably damaging Het
Tnks1bp1 T C 2: 84,902,125 (GRCm39) S1674P possibly damaging Het
Trim47 G A 11: 115,997,027 (GRCm39) R576W probably damaging Het
Wdr86 A T 5: 24,927,702 (GRCm39) I79N probably damaging Het
Wwp2 T A 8: 108,276,447 (GRCm39) V473D probably damaging Het
Zc3h12a T C 4: 125,013,581 (GRCm39) T428A probably benign Het
Zfp592 A G 7: 80,687,993 (GRCm39) E973G probably damaging Het
Other mutations in 4933402J07Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02896:4933402J07Rik APN 8 88,315,648 (GRCm39) missense probably damaging 0.99
R1755:4933402J07Rik UTSW 8 88,315,585 (GRCm39) missense possibly damaging 0.73
R1848:4933402J07Rik UTSW 8 88,295,121 (GRCm39) nonsense probably null
R2150:4933402J07Rik UTSW 8 88,312,691 (GRCm39) nonsense probably null
R4832:4933402J07Rik UTSW 8 88,294,601 (GRCm39) missense probably null 0.95
R5604:4933402J07Rik UTSW 8 88,295,125 (GRCm39) missense possibly damaging 0.80
R6470:4933402J07Rik UTSW 8 88,290,656 (GRCm39) missense probably benign 0.00
R7258:4933402J07Rik UTSW 8 88,312,805 (GRCm39) missense probably damaging 0.99
R8464:4933402J07Rik UTSW 8 88,315,649 (GRCm39) missense probably damaging 0.98
R8922:4933402J07Rik UTSW 8 88,295,177 (GRCm39) missense possibly damaging 0.95
R9043:4933402J07Rik UTSW 8 88,309,238 (GRCm39) missense possibly damaging 0.45
R9801:4933402J07Rik UTSW 8 88,290,717 (GRCm39) missense probably damaging 0.98
Z1176:4933402J07Rik UTSW 8 88,295,202 (GRCm39) missense probably benign 0.01
Z1177:4933402J07Rik UTSW 8 88,312,745 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16