Incidental Mutation 'R5088:Gins4'
ID 387576
Institutional Source Beutler Lab
Gene Symbol Gins4
Ensembl Gene ENSMUSG00000031546
Gene Name GINS complex subunit 4 (Sld5 homolog)
Synonyms 2810037C03Rik, SLD5, 4933405K01Rik
MMRRC Submission 042677-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5088 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 23226616-23237659 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23237068 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 3 (E3G)
Ref Sequence ENSEMBL: ENSMUSP00000033950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033950] [ENSMUST00000051094] [ENSMUST00000121783]
AlphaFold Q99LZ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000033950
AA Change: E3G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033950
Gene: ENSMUSG00000031546
AA Change: E3G

Pfam:Sld5 20 127 5.3e-9 PFAM
Pfam:SLD5_C 165 223 4.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000051094
SMART Domains Protein: ENSMUSP00000062983
Gene: ENSMUSG00000015341

Pfam:Erf4 11 125 3.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121783
SMART Domains Protein: ENSMUSP00000112935
Gene: ENSMUSG00000015341

Pfam:Erf4 11 125 3.2e-38 PFAM
Meta Mutation Damage Score 0.0797 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (72/73)
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
4930522L14Rik A T 5: 109,736,073 (GRCm38) C640S probably damaging Het
4931429L15Rik T C 9: 46,305,740 (GRCm38) R246G probably benign Het
Aak1 T C 6: 86,944,480 (GRCm38) probably null Het
Abcc5 A G 16: 20,376,662 (GRCm38) L695P probably damaging Het
Alcam T A 16: 52,288,927 (GRCm38) T328S probably damaging Het
Alpk1 A G 3: 127,685,320 (GRCm38) probably benign Het
Arel1 A G 12: 84,924,115 (GRCm38) L642P probably damaging Het
Atrip T C 9: 109,059,896 (GRCm38) D741G probably damaging Het
Bmp1 T C 14: 70,486,219 (GRCm38) T726A possibly damaging Het
Bnip3 A G 7: 138,894,608 (GRCm38) probably null Het
Cacng5 C G 11: 107,877,389 (GRCm38) C264S possibly damaging Het
Calr4 T A 4: 109,244,662 (GRCm38) probably benign Het
Cdhr1 T A 14: 37,089,465 (GRCm38) T230S probably benign Het
Cdk16 T C X: 20,696,327 (GRCm38) probably benign Het
Cenpj T C 14: 56,553,691 (GRCm38) E337G probably damaging Het
Chd9 A G 8: 90,977,519 (GRCm38) I694V possibly damaging Het
Chsy3 T A 18: 59,179,535 (GRCm38) V360D probably damaging Het
Col16a1 C T 4: 130,079,195 (GRCm38) T643M probably benign Het
Col5a1 G A 2: 28,018,602 (GRCm38) W67* probably null Het
Cyp20a1 A T 1: 60,363,350 (GRCm38) H198L probably damaging Het
Dnai1 T A 4: 41,597,630 (GRCm38) S38T probably benign Het
Dnai1 T G 4: 41,632,251 (GRCm38) S562A probably benign Het
Dpy19l4 G T 4: 11,303,357 (GRCm38) T188K probably damaging Het
Ergic2 A G 6: 148,183,123 (GRCm38) V304A probably damaging Het
Fam83a A G 15: 58,009,800 (GRCm38) T342A probably benign Het
Fbxo7 A G 10: 86,021,920 (GRCm38) probably benign Het
Glis3 G A 19: 28,531,579 (GRCm38) P335L probably benign Het
Golph3l A T 3: 95,617,190 (GRCm38) T251S possibly damaging Het
Hnf4g C T 3: 3,657,121 (GRCm38) A445V probably benign Het
Hykk A G 9: 54,946,479 (GRCm38) I362V probably benign Het
Il6st G A 13: 112,490,555 (GRCm38) V294M probably damaging Het
Itpr1 A G 6: 108,389,387 (GRCm38) I92V probably damaging Het
Kdm4c T C 4: 74,334,699 (GRCm38) L501P probably benign Het
Mpi G A 9: 57,550,604 (GRCm38) T105M probably damaging Het
Mrpl37 A T 4: 107,064,722 (GRCm38) L132H probably damaging Het
Muc5ac A T 7: 141,796,319 (GRCm38) T600S possibly damaging Het
Npl A T 1: 153,509,144 (GRCm38) I249N possibly damaging Het
Or10j27 C T 1: 173,131,039 (GRCm38) M59I probably damaging Het
Or7g30 A G 9: 19,441,771 (GRCm38) N286S probably damaging Het
Pkd1 A G 17: 24,590,838 (GRCm38) K3497E possibly damaging Het
Ptprt T C 2: 162,238,175 (GRCm38) N235D probably benign Het
Rangap1 A C 15: 81,710,463 (GRCm38) D388E probably benign Het
Rcvrn A T 11: 67,695,514 (GRCm38) Q33L probably benign Het
Rif1 A T 2: 52,092,295 (GRCm38) K524I possibly damaging Het
Rnf139 A T 15: 58,899,941 (GRCm38) N605I possibly damaging Het
Ryr2 C A 13: 11,712,243 (GRCm38) G2411* probably null Het
Scn3a A T 2: 65,472,299 (GRCm38) S1268T probably damaging Het
Sema6a T A 18: 47,249,129 (GRCm38) I784F probably damaging Het
Sgms2 C T 3: 131,330,356 (GRCm38) V232M probably benign Het
Skint7 T C 4: 111,980,430 (GRCm38) I135T possibly damaging Het
Smchd1 A T 17: 71,431,348 (GRCm38) N507K possibly damaging Het
Spata31d1a A C 13: 59,701,152 (GRCm38) probably null Het
Spata7 A T 12: 98,669,502 (GRCm38) D527V probably benign Het
Srcap A G 7: 127,541,661 (GRCm38) T1477A probably benign Het
Srl C A 16: 4,482,769 (GRCm38) D375Y probably damaging Het
Stk4 A T 2: 164,083,688 (GRCm38) K58* probably null Het
Svep1 T G 4: 58,120,648 (GRCm38) H795P possibly damaging Het
Trak2 T A 1: 58,935,808 (GRCm38) Q75L probably benign Het
Ubxn2a T A 12: 4,883,904 (GRCm38) N169I probably damaging Het
Vmn1r216 T A 13: 23,099,303 (GRCm38) L52* probably null Het
Vmn2r108 A T 17: 20,470,192 (GRCm38) N459K possibly damaging Het
Vstm5 A G 9: 15,257,305 (GRCm38) D55G possibly damaging Het
Wdr24 T A 17: 25,828,207 (GRCm38) probably null Het
Zfp13 C A 17: 23,577,061 (GRCm38) E179* probably null Het
Zfp839 T C 12: 110,868,176 (GRCm38) S546P 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
R0267:Gins4 UTSW 8 23,229,410 (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
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 2016-06-06