Incidental Mutation 'IGL03161:4930579G24Rik'
ID 411410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930579G24Rik
Ensembl Gene ENSMUSG00000027811
Gene Name RIKEN cDNA 4930579G24 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # IGL03161
Quality Score
Status
Chromosome 3
Chromosomal Location 79536386-79540127 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 79536493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029386] [ENSMUST00000029388] [ENSMUST00000120992]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029386
SMART Domains Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809

DomainStartEndE-ValueType
Pfam:Thi4 57 123 5.3e-9 PFAM
Pfam:FAD_binding_2 69 120 1.7e-7 PFAM
Pfam:Lycopene_cycl 69 125 5.7e-8 PFAM
Pfam:NAD_binding_8 72 122 9.7e-8 PFAM
Pfam:ETF_QO 511 614 1.1e-51 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000029388
AA Change: S4P
SMART Domains Protein: ENSMUSP00000029388
Gene: ENSMUSG00000027811
AA Change: S4P

DomainStartEndE-ValueType
Pfam:DUF4676 5 85 1e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120992
SMART Domains Protein: ENSMUSP00000113888
Gene: ENSMUSG00000027809

DomainStartEndE-ValueType
Pfam:Thi4 1 63 2e-8 PFAM
Pfam:FAD_binding_2 9 59 4.7e-8 PFAM
Pfam:Pyr_redox_2 9 209 1.7e-7 PFAM
Pfam:NAD_binding_9 11 56 2.1e-7 PFAM
Pfam:NAD_binding_8 12 61 2.8e-8 PFAM
Pfam:ETF_QO 402 511 3e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194620
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 G T 2: 103,397,799 (GRCm39) R243L probably benign Het
Adamts12 A G 15: 11,292,168 (GRCm39) E871G possibly damaging Het
Ascc3 A T 10: 50,494,168 (GRCm39) N201I probably damaging Het
Aste1 A T 9: 105,273,871 (GRCm39) H37L probably damaging Het
Atp1a2 T A 1: 172,106,429 (GRCm39) probably benign Het
Cand2 C A 6: 115,769,698 (GRCm39) T836K probably benign Het
Dnah7c G A 1: 46,506,456 (GRCm39) A178T probably benign Het
Dnm2 A G 9: 21,397,020 (GRCm39) probably benign Het
Dock3 T C 9: 106,900,987 (GRCm39) D326G probably damaging Het
Fignl1 A C 11: 11,752,680 (GRCm39) M125R probably benign Het
Gabarapl2 T A 8: 112,669,168 (GRCm39) V42D probably benign Het
Hivep2 T C 10: 14,019,100 (GRCm39) V1957A probably damaging Het
Hps1 T C 19: 42,755,710 (GRCm39) E172G probably damaging Het
Il16 T C 7: 83,371,707 (GRCm39) D33G probably damaging Het
Lamb1 A G 12: 31,376,255 (GRCm39) N1542D probably benign Het
Mllt6 T C 11: 97,557,977 (GRCm39) Y179H probably benign Het
Muc4 T C 16: 32,570,766 (GRCm39) S609P possibly damaging Het
Nacad G A 11: 6,550,378 (GRCm39) Q938* probably null Het
Odad3 A G 9: 21,913,611 (GRCm39) S54P probably benign Het
Or4k45 T C 2: 111,395,676 (GRCm39) I38V possibly damaging Het
Or4p22 G A 2: 88,317,792 (GRCm39) A239T probably benign Het
Pik3c3 C T 18: 30,426,760 (GRCm39) T292I probably benign Het
Prss3b A T 6: 41,011,240 (GRCm39) H47Q probably damaging Het
Slit3 T C 11: 35,591,241 (GRCm39) V1351A probably benign Het
Spg7 T C 8: 123,814,070 (GRCm39) M443T probably damaging Het
Spmip9 T C 6: 70,890,519 (GRCm39) E91G probably benign Het
Tcof1 A G 18: 60,966,560 (GRCm39) S344P possibly damaging Het
Tm4sf5 T A 11: 70,401,098 (GRCm39) S105T probably benign Het
Tmem119 A G 5: 113,932,961 (GRCm39) V280A possibly damaging Het
Trbv20 A T 6: 41,165,757 (GRCm39) I61L probably benign Het
Trip12 T C 1: 84,738,853 (GRCm39) probably benign Het
Vmn1r32 T A 6: 66,530,204 (GRCm39) M191L possibly damaging Het
Vta1 A T 10: 14,543,716 (GRCm39) H219Q possibly damaging Het
Other mutations in 4930579G24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:4930579G24Rik APN 3 79,538,598 (GRCm39) unclassified probably benign
R1612:4930579G24Rik UTSW 3 79,538,451 (GRCm39) missense probably benign 0.35
R1674:4930579G24Rik UTSW 3 79,538,451 (GRCm39) missense probably benign 0.35
R8025:4930579G24Rik UTSW 3 79,536,635 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02