Incidental Mutation 'IGL00497:4930579G24Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol 4930579G24Rik
Ensembl Gene ENSMUSG00000027811
Gene NameRIKEN cDNA 4930579G24 gene
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #IGL00497
Quality Score
Chromosomal Location79629079-79632820 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to A at 79631291 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029386] [ENSMUST00000029388] [ENSMUST00000120992]
Predicted Effect probably benign
Transcript: ENSMUST00000029386
SMART Domains Protein: ENSMUSP00000029386
Gene: ENSMUSG00000027809

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 probably benign
Transcript: ENSMUST00000029388
SMART Domains Protein: ENSMUSP00000029388
Gene: ENSMUSG00000027811

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

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik A G 11: 78,272,933 N1076D probably damaging Het
Aatk C T 11: 120,010,186 R1128Q probably benign Het
Acot6 C T 12: 84,109,438 R387C probably damaging Het
Adam11 A G 11: 102,770,147 E118G probably damaging Het
Adcyap1r1 G A 6: 55,472,279 V73I probably damaging Het
Apol8 T C 15: 77,750,014 T121A probably damaging Het
Ccdc91 C A 6: 147,606,987 Q404K unknown Het
Cpt1b T C 15: 89,422,293 K294R probably benign Het
Dnah6 A C 6: 73,195,761 V238G probably damaging Het
Dscaml1 T C 9: 45,752,238 S1920P probably damaging Het
Gcfc2 A T 6: 81,957,970 I737L probably benign Het
Gm1840 T C 8: 5,640,563 noncoding transcript Het
Gmeb1 A G 4: 132,227,985 V293A probably benign Het
Hibch A G 1: 52,885,190 probably benign Het
Ifnab A G 4: 88,691,182 Y16H probably benign Het
Il17rc T C 6: 113,474,171 V155A probably damaging Het
Lrr1 A G 12: 69,174,582 H166R probably benign Het
Map4k5 G T 12: 69,845,732 A141E probably damaging Het
Mettl17 A T 14: 51,888,835 K233N probably damaging Het
Mon2 A G 10: 123,026,299 L740S probably damaging Het
Mpdz A C 4: 81,335,742 I1051S probably benign Het
Mroh8 A G 2: 157,216,914 F944S probably damaging Het
Myh13 A G 11: 67,342,488 Y611C probably damaging Het
Npat A G 9: 53,566,800 N951D possibly damaging Het
Osmr T C 15: 6,847,066 S126G probably benign Het
Parp14 T C 16: 35,834,836 Y1755C probably damaging Het
Phf14 T C 6: 11,941,424 probably benign Het
Prex2 T A 1: 11,186,652 M1196K possibly damaging Het
Prkd1 A T 12: 50,383,481 D614E probably damaging Het
Ptprm A G 17: 66,817,972 L794P probably damaging Het
Rb1 C T 14: 73,264,598 R449H probably damaging Het
Scfd1 A G 12: 51,427,869 D469G probably benign Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Sgo1 A G 17: 53,677,102 probably benign Het
Slc11a1 A G 1: 74,381,898 probably null Het
Snw1 A G 12: 87,452,580 probably null Het
Stac3 T C 10: 127,503,664 I143T probably damaging Het
Tcta A T 9: 108,305,916 L10Q probably damaging Het
Tha1 T C 11: 117,871,005 probably benign Het
Trmt1 T C 8: 84,695,509 M254T possibly damaging Het
Trps1 T A 15: 50,661,307 M887L possibly damaging Het
Zfyve28 A G 5: 34,243,195 V53A probably damaging Het
Other mutations in 4930579G24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03161:4930579G24Rik APN 3 79629186 unclassified probably benign
R1612:4930579G24Rik UTSW 3 79631144 missense probably benign 0.35
R1674:4930579G24Rik UTSW 3 79631144 missense probably benign 0.35
R8025:4930579G24Rik UTSW 3 79629328 missense probably damaging 1.00
Posted On2013-04-17