Incidental Mutation 'R9679:Gins4'
ID 728415
Institutional Source Beutler Lab
Gene Symbol Gins4
Ensembl Gene ENSMUSG00000031546
Gene Name GINS complex subunit 4
Synonyms 2810037C03Rik, SLD5, 4933405K01Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9679 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 23716632-23727675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23717132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 212 (A212V)
Ref Sequence ENSEMBL: ENSMUSP00000033950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033950]
AlphaFold Q99LZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000033950
AA Change: A212V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033950
Gene: ENSMUSG00000031546
AA Change: A212V

Pfam:Sld5 20 127 5.3e-9 PFAM
Pfam:SLD5_C 165 223 4.1e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T A 12: 113,509,542 (GRCm39) N638K probably benign Het
Arid5a A G 1: 36,357,648 (GRCm39) K188E possibly damaging Het
Atp11a T C 8: 12,909,388 (GRCm39) I1082T possibly damaging Het
Bdp1 T A 13: 100,180,285 (GRCm39) I1845F probably damaging Het
Ccdc87 A C 19: 4,891,299 (GRCm39) E597A probably benign Het
Cfap53 A T 18: 74,492,656 (GRCm39) Q460L possibly damaging Het
Clcn1 G A 6: 42,263,753 (GRCm39) S18N probably damaging Het
Cntnap3 C A 13: 64,899,562 (GRCm39) C977F probably damaging Het
Colec11 C A 12: 28,644,829 (GRCm39) V222L probably benign Het
Dchs2 G T 3: 83,261,697 (GRCm39) S2655I probably damaging Het
Dnah8 A G 17: 31,037,115 (GRCm39) T4227A probably benign Het
Dock5 G A 14: 68,018,450 (GRCm39) R1242W probably damaging Het
Ebf3 T A 7: 136,832,964 (GRCm39) N237I possibly damaging Het
F2rl3 T A 8: 73,489,661 (GRCm39) L296Q probably damaging Het
Fbn2 A G 18: 58,201,433 (GRCm39) I1328T probably damaging Het
Fes T C 7: 80,033,050 (GRCm39) E258G probably benign Het
Il15 T C 8: 83,071,094 (GRCm39) Y7C probably benign Het
Il9r T G 11: 32,140,853 (GRCm39) H395P probably benign Het
Jade1 T C 3: 41,567,569 (GRCm39) S546P probably damaging Het
Krt72 C T 15: 101,685,152 (GRCm39) G469D probably damaging Het
Limd1 T A 9: 123,308,457 (GRCm39) M52K probably damaging Het
Mamdc2 T C 19: 23,351,380 (GRCm39) N182S probably benign Het
Mrpl14 A G 17: 46,009,240 (GRCm39) N113S probably damaging Het
Ms4a14 A G 19: 11,280,048 (GRCm39) S837P possibly damaging Het
Mtrex A G 13: 113,032,055 (GRCm39) S586P probably damaging Het
Muc21 A G 17: 35,930,491 (GRCm39) S1232P unknown Het
Myh11 A T 16: 14,095,436 (GRCm39) Y109N Het
Nfrkb C T 9: 31,321,385 (GRCm39) T694M probably benign Het
Nlrp4b T G 7: 10,449,184 (GRCm39) S462R probably benign Het
Or4k37 A G 2: 111,159,345 (GRCm39) T194A probably benign Het
Or52e2 T C 7: 102,804,652 (GRCm39) I101V probably benign Het
Or5g9 T A 2: 85,552,482 (GRCm39) H244Q probably damaging Het
Or5h19 A G 16: 58,856,521 (GRCm39) L193P possibly damaging Het
Or6c76 A G 10: 129,611,882 (GRCm39) Y33C probably damaging Het
Rasip1 T C 7: 45,277,327 (GRCm39) V45A possibly damaging Het
Rgs22 A G 15: 36,087,587 (GRCm39) S568P probably benign Het
Sephs1 T A 2: 4,898,105 (GRCm39) L172Q probably damaging Het
Slc16a3 T C 11: 120,847,223 (GRCm39) L137P probably damaging Het
Slc22a4 T C 11: 53,881,599 (GRCm39) Y373C probably damaging Het
Snx1 T C 9: 65,998,002 (GRCm39) D410G probably benign Het
Stam2 G T 2: 52,606,582 (GRCm39) A101D probably damaging Het
Surf4 A G 2: 26,814,364 (GRCm39) F179S probably benign Het
Taf8 C T 17: 47,801,101 (GRCm39) R294Q unknown Het
Tnr A G 1: 159,719,608 (GRCm39) T962A probably benign Het
Tpx2 T A 2: 152,711,618 (GRCm39) I51K possibly damaging Het
Traf7 CA CAA 17: 24,746,737 (GRCm39) probably benign Het
Usp34 T A 11: 23,394,369 (GRCm39) Y2305N Het
Vil1 C A 1: 74,469,833 (GRCm39) Q740K probably benign Het
Vmn1r236 T C 17: 21,507,286 (GRCm39) F135L possibly damaging Het
Vmn1r57 A C 7: 5,224,230 (GRCm39) I252L probably benign Het
Vmn2r77 T C 7: 86,460,741 (GRCm39) L689P probably benign Het
Wdr1 A G 5: 38,685,216 (GRCm39) L585P probably damaging Het
Wdr6 T C 9: 108,450,358 (GRCm39) I1057V probably benign 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
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
RF006:Gins4 UTSW 8 23,717,183 (GRCm39) missense possibly damaging 0.71
RF016:Gins4 UTSW 8 23,722,626 (GRCm39) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2022-10-06