Incidental Mutation 'IGL01376:Gins4'
ID 78736
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 # IGL01376
Quality Score
Chromosome 8
Chromosomal Location 23716632-23727675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23717343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 166 (D166G)
Ref Sequence ENSEMBL: ENSMUSP00000033950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033950]
AlphaFold Q99LZ3
Predicted Effect probably benign
Transcript: ENSMUST00000033950
AA Change: D166G

PolyPhen 2 Score 0.384 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033950
Gene: ENSMUSG00000031546
AA Change: D166G

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A T 2: 35,245,640 (GRCm39) I61K probably benign Het
Acot12 A G 13: 91,932,790 (GRCm39) Y521C probably damaging Het
Anxa7 T C 14: 20,510,524 (GRCm39) N313D probably benign Het
Cdk14 T C 5: 5,060,839 (GRCm39) I327M probably damaging Het
Clca3b T C 3: 144,531,812 (GRCm39) N664S possibly damaging Het
Cpb1 A C 3: 20,324,488 (GRCm39) L62R probably benign Het
Cracdl A G 1: 37,667,425 (GRCm39) L207P probably damaging Het
Eef2 G A 10: 81,013,883 (GRCm39) probably benign Het
Enox1 T C 14: 77,489,283 (GRCm39) probably benign Het
Esco1 A T 18: 10,594,892 (GRCm39) C131* probably null Het
Etv1 A T 12: 38,907,039 (GRCm39) D347V probably damaging Het
Fat1 A G 8: 45,479,878 (GRCm39) I2975V probably benign Het
Ghsr A G 3: 27,425,977 (GRCm39) E11G probably benign Het
Iglv2 G T 16: 19,079,315 (GRCm39) H62N possibly damaging Het
Irf2bp1 T C 7: 18,739,952 (GRCm39) S531P possibly damaging Het
Lrig3 T A 10: 125,830,335 (GRCm39) F144L probably benign Het
Magi1 C T 6: 94,260,074 (GRCm39) R77Q possibly damaging Het
Mlkl A G 8: 112,046,379 (GRCm39) L298P probably damaging Het
Ndc1 T C 4: 107,232,394 (GRCm39) L193P probably damaging Het
Npas3 A T 12: 54,091,369 (GRCm39) T308S probably benign Het
Nt5dc3 A T 10: 86,670,028 (GRCm39) Q541L probably benign Het
Or10ag53 T C 2: 87,083,217 (GRCm39) V312A possibly damaging Het
Or8k37 A C 2: 86,469,953 (GRCm39) V33G probably benign Het
Parp10 G T 15: 76,125,877 (GRCm39) T437K probably benign Het
Phf3 A G 1: 30,869,566 (GRCm39) V494A possibly damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Sars2 T A 7: 28,449,308 (GRCm39) Y307N probably damaging Het
Serping1 A T 2: 84,600,529 (GRCm39) V271E probably damaging Het
Sgpl1 G A 10: 60,949,849 (GRCm39) P117S probably damaging Het
Slc38a1 A C 15: 96,483,437 (GRCm39) L297R probably damaging Het
Strbp A G 2: 37,535,663 (GRCm39) M15T probably damaging Het
Tdp2 A G 13: 25,020,932 (GRCm39) probably null Het
Tex10 T C 4: 48,456,740 (GRCm39) Y657C possibly damaging Het
Xrcc4 A T 13: 90,210,169 (GRCm39) S92T probably benign Het
Other mutations in Gins4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01824:Gins4 APN 8 23,724,784 (GRCm39) nonsense probably null
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 2013-11-05