Incidental Mutation 'IGL01824:Gins4'
ID 154616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gins4
Ensembl Gene ENSMUSG00000031546
Gene Name GINS complex subunit 4
Synonyms 2810037C03Rik, SLD5, 4933405K01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01824
Quality Score
Chromosome 8
Chromosomal Location 23716632-23727675 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 23724784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 57 (Q57*)
Ref Sequence ENSEMBL: ENSMUSP00000033950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033950]
AlphaFold Q99LZ3
Predicted Effect probably null
Transcript: ENSMUST00000033950
AA Change: Q57*
SMART Domains Protein: ENSMUSP00000033950
Gene: ENSMUSG00000031546
AA Change: Q57*

Pfam:Sld5 20 127 5.3e-9 PFAM
Pfam:SLD5_C 165 223 4.1e-21 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant animals do not survive past implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c G A 7: 83,800,497 (GRCm39) R186C probably benign Het
Ankar A G 1: 72,690,886 (GRCm39) V1196A probably benign Het
Asah1 A T 8: 41,802,580 (GRCm39) probably benign Het
Chrm1 T C 19: 8,656,494 (GRCm39) W400R probably damaging Het
Cyp27a1 G T 1: 74,775,040 (GRCm39) E290* probably null Het
Dnah7a T C 1: 53,543,429 (GRCm39) D2247G probably benign Het
Gli1 T C 10: 127,172,396 (GRCm39) D219G probably benign Het
Greb1 A T 12: 16,761,717 (GRCm39) C554* probably null Het
Gtf2ird2 T C 5: 134,226,123 (GRCm39) probably benign Het
Ifna15 T C 4: 88,476,020 (GRCm39) R155G probably benign Het
Lck T A 4: 129,451,939 (GRCm39) M14L probably benign Het
Megf6 A G 4: 154,336,691 (GRCm39) D322G probably damaging Het
Or4b1b T A 2: 90,112,263 (GRCm39) I219F probably damaging Het
Pcdh18 A T 3: 49,709,223 (GRCm39) D697E probably damaging Het
Pnp C T 14: 51,188,870 (GRCm39) T221I probably damaging Het
Ppl A G 16: 4,905,753 (GRCm39) I1514T probably damaging Het
Scnn1g A G 7: 121,365,516 (GRCm39) M523V probably benign Het
Sema4c A G 1: 36,592,110 (GRCm39) Y246H possibly damaging Het
Slco1a5 T A 6: 142,198,763 (GRCm39) I301F probably benign Het
Srebf1 A G 11: 60,094,957 (GRCm39) S446P probably benign Het
Sys1 T G 2: 164,305,225 (GRCm39) L56R probably damaging Het
Trpc7 G T 13: 56,937,535 (GRCm39) Y585* probably null Het
Vmn2r110 T A 17: 20,794,929 (GRCm39) Y580F probably benign Het
Zmym6 G T 4: 127,002,499 (GRCm39) V485F probably damaging Het
Other mutations in Gins4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Gins4 APN 8 23,717,343 (GRCm39) missense probably benign 0.38
IGL02304:Gins4 APN 8 23,722,625 (GRCm39) missense probably benign
IGL03194:Gins4 APN 8 23,724,762 (GRCm39) splice site probably benign
R0058:Gins4 UTSW 8 23,719,526 (GRCm39) splice site probably benign
R0058:Gins4 UTSW 8 23,719,526 (GRCm39) splice site probably benign
R0267:Gins4 UTSW 8 23,719,426 (GRCm39) splice site probably benign
R1428:Gins4 UTSW 8 23,717,144 (GRCm39) missense probably damaging 1.00
R1519:Gins4 UTSW 8 23,724,792 (GRCm39) missense probably benign 0.04
R4691:Gins4 UTSW 8 23,727,075 (GRCm39) missense probably benign 0.40
R4933:Gins4 UTSW 8 23,724,796 (GRCm39) missense probably damaging 0.99
R5088:Gins4 UTSW 8 23,727,084 (GRCm39) missense possibly damaging 0.87
R8098:Gins4 UTSW 8 23,727,037 (GRCm39) missense probably benign
R9679:Gins4 UTSW 8 23,717,132 (GRCm39) missense probably damaging 1.00
RF006:Gins4 UTSW 8 23,717,183 (GRCm39) missense possibly damaging 0.71
RF016:Gins4 UTSW 8 23,722,626 (GRCm39) missense probably benign
Posted On 2014-02-04