Incidental Mutation 'IGL02304:Gins4'
ID 287498
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 # IGL02304
Quality Score
Chromosome 8
Chromosomal Location 23716632-23727675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23722625 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 98 (M98K)
Ref Sequence ENSEMBL: ENSMUSP00000033950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033950]
AlphaFold Q99LZ3
Predicted Effect probably benign
Transcript: ENSMUST00000033950
AA Change: M98K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033950
Gene: ENSMUSG00000031546
AA Change: M98K

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik G T 18: 69,083,122 (GRCm39) H31N unknown Het
Adamts8 A G 9: 30,867,952 (GRCm39) N592S possibly damaging Het
Atp1a2 C A 1: 172,116,920 (GRCm39) E232D probably benign Het
Cacnb3 A T 15: 98,540,263 (GRCm39) D323V probably damaging Het
Cdh9 A T 15: 16,848,687 (GRCm39) T456S probably benign Het
Cep162 A T 9: 87,109,200 (GRCm39) probably benign Het
Clvs2 T C 10: 33,404,443 (GRCm39) M258V probably benign Het
Col6a5 T C 9: 105,805,613 (GRCm39) T1098A unknown Het
Foxs1 T C 2: 152,774,270 (GRCm39) D261G probably benign Het
Gas2l2 T C 11: 83,315,064 (GRCm39) probably benign Het
Gm9637 A T 14: 19,402,545 (GRCm38) noncoding transcript Het
Herc1 A G 9: 66,383,696 (GRCm39) D3720G probably benign Het
Kcnh5 C T 12: 75,023,471 (GRCm39) M532I probably benign Het
Kcnk18 T C 19: 59,223,295 (GRCm39) Y147H probably damaging Het
Kif21a A T 15: 90,849,738 (GRCm39) F55Y probably damaging Het
Krt15 T A 11: 100,024,503 (GRCm39) I278F possibly damaging Het
L3mbtl4 T A 17: 68,894,180 (GRCm39) Y395* probably null Het
Mcm3ap T A 10: 76,320,572 (GRCm39) N843K possibly damaging Het
Mpdz T C 4: 81,228,394 (GRCm39) K1337E possibly damaging Het
Mpdz G A 4: 81,215,796 (GRCm39) probably benign Het
Ms4a6d T C 19: 11,580,505 (GRCm39) probably benign Het
Myo7a G T 7: 97,726,943 (GRCm39) R922S possibly damaging Het
Nek1 G T 8: 61,465,201 (GRCm39) G97C probably damaging Het
Obscn A G 11: 58,967,448 (GRCm39) Y2963H probably damaging Het
Or4k44 T C 2: 111,367,746 (GRCm39) N296S probably benign Het
Or4k6 T C 14: 50,476,217 (GRCm39) N42D probably damaging Het
Or5w15 C T 2: 87,568,330 (GRCm39) V113M probably benign Het
Prmt3 G A 7: 49,476,485 (GRCm39) V365I probably benign Het
Prrc2c T C 1: 162,511,705 (GRCm39) T958A probably benign Het
Ptprb T C 10: 116,167,164 (GRCm39) Y947H probably damaging Het
Pus10 C T 11: 23,662,275 (GRCm39) S315L probably damaging Het
Rmi1 C A 13: 58,557,290 (GRCm39) S513* probably null Het
Sec14l3 C T 11: 4,024,768 (GRCm39) P239L probably damaging Het
Slc44a3 T C 3: 121,320,723 (GRCm39) T93A possibly damaging Het
Srsf3-ps C T 11: 98,516,364 (GRCm39) R3H probably benign Het
Stat1 G A 1: 52,171,703 (GRCm39) A125T probably benign Het
Tigd2 C T 6: 59,188,683 (GRCm39) Q517* probably null Het
Trav13d-3 C T 14: 53,270,837 (GRCm39) Q100* probably null Het
Trim67 G A 8: 125,552,691 (GRCm39) D598N probably damaging Het
Trio A G 15: 27,735,522 (GRCm39) L2856P probably damaging Het
Other mutations in Gins4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Gins4 APN 8 23,717,343 (GRCm39) missense probably benign 0.38
IGL01824:Gins4 APN 8 23,724,784 (GRCm39) nonsense probably null
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 2015-04-16