Incidental Mutation 'R0267:Gins4'
ID 35002
Institutional Source Beutler Lab
Gene Symbol Gins4
Ensembl Gene ENSMUSG00000031546
Gene Name GINS complex subunit 4 (Sld5 homolog)
Synonyms 2810037C03Rik, SLD5, 4933405K01Rik
MMRRC Submission 038493-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0267 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 23226616-23237659 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 23229410 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033950]
AlphaFold Q99LZ3
Predicted Effect probably benign
Transcript: ENSMUST00000033950
SMART Domains Protein: ENSMUSP00000033950
Gene: ENSMUSG00000031546

Pfam:Sld5 20 127 5.3e-9 PFAM
Pfam:SLD5_C 165 223 4.1e-21 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.7%
  • 10x: 96.2%
  • 20x: 94.0%
Validation Efficiency 97% (64/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,046,105 (GRCm38) F1721S probably damaging Het
Adgrb1 G A 15: 74,529,389 (GRCm38) R78H probably damaging Het
Adgrd1 G A 5: 129,139,594 (GRCm38) A342T probably benign Het
Adrb1 A T 19: 56,723,491 (GRCm38) K374* probably null Het
Aldh18a1 C A 19: 40,573,789 (GRCm38) V264F probably benign Het
Aldh1l2 C T 10: 83,522,687 (GRCm38) probably benign Het
Alox15 T A 11: 70,346,153 (GRCm38) H393L probably damaging Het
Aox2 A G 1: 58,339,446 (GRCm38) probably benign Het
Appbp2 T C 11: 85,201,462 (GRCm38) Y297C probably damaging Het
Atxn2l T G 7: 126,493,207 (GRCm38) Q950P probably damaging Het
Bicd1 A T 6: 149,517,042 (GRCm38) D737V probably damaging Het
C9 T C 15: 6,467,458 (GRCm38) I212T probably benign Het
Ccdc63 A T 5: 122,117,044 (GRCm38) probably benign Het
Chst1 C A 2: 92,613,606 (GRCm38) P141Q probably damaging Het
Cped1 T A 6: 22,119,476 (GRCm38) F311L probably damaging Het
D6Wsu163e T A 6: 126,946,491 (GRCm38) H113Q probably benign Het
Dcn A T 10: 97,506,483 (GRCm38) probably benign Het
Dmbx1 C T 4: 115,918,112 (GRCm38) A324T probably benign Het
Dock10 G T 1: 80,512,454 (GRCm38) Q1618K probably damaging Het
Dpyd A G 3: 118,917,272 (GRCm38) E443G probably benign Het
Espl1 T C 15: 102,313,017 (GRCm38) V953A possibly damaging Het
Exosc10 T C 4: 148,562,756 (GRCm38) L174P probably damaging Het
Foxg1 A G 12: 49,385,582 (GRCm38) Y366C probably damaging Het
Fxyd3 T C 7: 31,070,734 (GRCm38) probably benign Het
Gbp2 T C 3: 142,630,106 (GRCm38) V189A probably benign Het
Gm12789 A G 4: 101,988,122 (GRCm38) T3A probably benign Het
Gnb1l T C 16: 18,548,089 (GRCm38) probably benign Het
Gtpbp3 T C 8: 71,491,497 (GRCm38) L295S probably damaging Het
Hrh4 C A 18: 13,022,398 (GRCm38) Y331* probably null Het
Hsd11b1 A T 1: 193,241,397 (GRCm38) Y52N probably damaging Het
Jam3 A G 9: 27,106,405 (GRCm38) I29T probably benign Het
Kctd16 T A 18: 40,530,877 (GRCm38) I353N probably benign Het
Lama4 G T 10: 39,028,639 (GRCm38) G246C probably damaging Het
Lhx3 T A 2: 26,203,028 (GRCm38) M137L probably benign Het
Morc2a T C 11: 3,678,567 (GRCm38) I340T probably benign Het
Myo7a A C 7: 98,054,624 (GRCm38) I1969S probably benign Het
Olfr1471 T A 19: 13,445,428 (GRCm38) C139S probably damaging Het
Olfr304 T C 7: 86,386,267 (GRCm38) E131G possibly damaging Het
Olfr429 A G 1: 174,089,166 (GRCm38) N42S probably damaging Het
Pclo T C 5: 14,681,180 (GRCm38) L3232P unknown Het
Polr1a T G 6: 71,974,139 (GRCm38) I1407M probably damaging Het
Ppip5k2 A G 1: 97,728,997 (GRCm38) V817A probably damaging Het
Rbfox3 T C 11: 118,495,240 (GRCm38) T280A probably benign Het
Rfx3 T C 19: 27,793,788 (GRCm38) D521G probably benign Het
Scn5a C T 9: 119,543,135 (GRCm38) V223I probably damaging Het
Sgsm3 T G 15: 81,006,602 (GRCm38) M119R probably damaging Het
Slc6a7 T A 18: 60,996,711 (GRCm38) M608L probably benign Het
Slit2 A G 5: 48,182,331 (GRCm38) probably benign Het
Steap2 T A 5: 5,673,561 (GRCm38) I440F probably benign Het
Syn2 T G 6: 115,254,150 (GRCm38) probably benign Het
Taar2 G A 10: 23,941,495 (GRCm38) R311H probably benign Het
Tfb2m G A 1: 179,533,638 (GRCm38) H262Y probably benign Het
Trmt1l A G 1: 151,457,675 (GRCm38) probably benign Het
Trpm6 C A 19: 18,823,378 (GRCm38) P819T probably benign Het
Ttn G A 2: 76,743,689 (GRCm38) A25620V probably damaging Het
Ubn2 T C 6: 38,482,618 (GRCm38) probably null Het
Vars T C 17: 35,011,596 (GRCm38) probably benign Het
Vip A T 10: 5,644,004 (GRCm38) D119V possibly damaging Het
Vmn2r92 C T 17: 18,167,957 (GRCm38) A408V probably damaging Het
Vps33b T C 7: 80,286,054 (GRCm38) I405T possibly damaging Het
Zbtb21 T A 16: 97,952,100 (GRCm38) S356C probably damaging Het
Zdhhc6 A T 19: 55,308,930 (GRCm38) S237T probably benign Het
Zfp142 G A 1: 74,576,064 (GRCm38) A427V probably benign Het
Zfp692 T A 11: 58,314,314 (GRCm38) V463E possibly damaging Het
Zmynd8 A T 2: 165,828,402 (GRCm38) I384N probably damaging Het
Other mutations in Gins4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Gins4 APN 8 23,227,327 (GRCm38) missense probably benign 0.38
IGL01824:Gins4 APN 8 23,234,768 (GRCm38) nonsense probably null
IGL02304:Gins4 APN 8 23,232,609 (GRCm38) missense probably benign
IGL03194:Gins4 APN 8 23,234,746 (GRCm38) splice site probably benign
R0058:Gins4 UTSW 8 23,229,510 (GRCm38) splice site probably benign
R0058:Gins4 UTSW 8 23,229,510 (GRCm38) splice site probably benign
R1428:Gins4 UTSW 8 23,227,128 (GRCm38) missense probably damaging 1.00
R1519:Gins4 UTSW 8 23,234,776 (GRCm38) missense probably benign 0.04
R4691:Gins4 UTSW 8 23,237,059 (GRCm38) missense probably benign 0.40
R4933:Gins4 UTSW 8 23,234,780 (GRCm38) missense probably damaging 0.99
R5088:Gins4 UTSW 8 23,237,068 (GRCm38) missense possibly damaging 0.87
R8098:Gins4 UTSW 8 23,237,021 (GRCm38) missense probably benign
R9679:Gins4 UTSW 8 23,227,116 (GRCm38) missense probably damaging 1.00
RF006:Gins4 UTSW 8 23,227,167 (GRCm38) missense possibly damaging 0.71
RF016:Gins4 UTSW 8 23,232,610 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-09