Incidental Mutation 'R9679:Gins4'
ID 728415
Institutional Source Beutler Lab
Gene Symbol Gins4
Ensembl Gene ENSMUSG00000031546
Gene Name GINS complex subunit 4 (Sld5 homolog)
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 23226616-23237659 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23227116 bp (GRCm38)
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

DomainStartEndE-ValueType
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: 113,545,922 N638K probably benign Het
Arid5a A G 1: 36,318,567 K188E possibly damaging Het
Atp11a T C 8: 12,859,388 I1082T possibly damaging Het
Bdp1 T A 13: 100,043,777 I1845F probably damaging Het
Ccdc87 A C 19: 4,841,271 E597A probably benign Het
Cfap53 A T 18: 74,359,585 Q460L possibly damaging Het
Clcn1 G A 6: 42,286,819 S18N probably damaging Het
Cntnap3 C A 13: 64,751,748 C977F probably damaging Het
Colec11 C A 12: 28,594,830 V222L probably benign Het
Dchs2 G T 3: 83,354,390 S2655I probably damaging Het
Dnah8 A G 17: 30,818,141 T4227A probably benign Het
Dock5 G A 14: 67,781,001 R1242W probably damaging Het
Ebf3 T A 7: 137,231,235 N237I possibly damaging Het
F2rl3 T A 8: 72,763,033 L296Q probably damaging Het
Fbn2 A G 18: 58,068,361 I1328T probably damaging Het
Fes T C 7: 80,383,302 E258G probably benign Het
Gm9573 A G 17: 35,619,599 S1232P unknown Het
Il15 T C 8: 82,344,465 Y7C probably benign Het
Il9r T G 11: 32,190,853 H395P probably benign Het
Jade1 T C 3: 41,613,134 S546P probably damaging Het
Krt72 C T 15: 101,776,717 G469D probably damaging Het
Limd1 T A 9: 123,479,392 M52K probably damaging Het
Mamdc2 T C 19: 23,374,016 N182S probably benign Het
Mrpl14 A G 17: 45,698,314 N113S probably damaging Het
Ms4a14 A G 19: 11,302,684 S837P possibly damaging Het
Myh11 A T 16: 14,277,572 Y109N Het
Nfrkb C T 9: 31,410,089 T694M probably benign Het
Nlrp4b T G 7: 10,715,257 S462R probably benign Het
Olfr1009 T A 2: 85,722,138 H244Q probably damaging Het
Olfr1281 A G 2: 111,329,000 T194A probably benign Het
Olfr187 A G 16: 59,036,158 L193P possibly damaging Het
Olfr589 T C 7: 103,155,445 I101V probably benign Het
Olfr809 A G 10: 129,776,013 Y33C probably damaging Het
Rasip1 T C 7: 45,627,903 V45A possibly damaging Het
Rgs22 A G 15: 36,087,441 S568P probably benign Het
Sephs1 T A 2: 4,893,294 L172Q probably damaging Het
Skiv2l2 A G 13: 112,895,521 S586P probably damaging Het
Slc16a3 T C 11: 120,956,397 L137P probably damaging Het
Slc22a4 T C 11: 53,990,773 Y373C probably damaging Het
Snx1 T C 9: 66,090,720 D410G probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,660,334 probably benign Het
Stam2 G T 2: 52,716,570 A101D probably damaging Het
Surf4 A G 2: 26,924,352 F179S probably benign Het
Taf8 C T 17: 47,490,176 R294Q unknown Het
Tnr A G 1: 159,892,038 T962A probably benign Het
Tpx2 T A 2: 152,869,698 I51K possibly damaging Het
Traf7 CA CAA 17: 24,527,763 probably benign Het
Usp34 T A 11: 23,444,369 Y2305N Het
Vil1 C A 1: 74,430,674 Q740K probably benign Het
Vmn1r236 T C 17: 21,287,024 F135L possibly damaging Het
Vmn1r57 A C 7: 5,221,231 I252L probably benign Het
Vmn2r77 T C 7: 86,811,533 L689P probably benign Het
Wdr1 A G 5: 38,527,873 L585P probably damaging Het
Wdr6 T C 9: 108,573,159 I1057V probably benign Het
Other mutations in Gins4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01376:Gins4 APN 8 23227327 missense probably benign 0.38
IGL01824:Gins4 APN 8 23234768 nonsense probably null
IGL02304:Gins4 APN 8 23232609 missense probably benign
IGL03194:Gins4 APN 8 23234746 splice site probably benign
R0058:Gins4 UTSW 8 23229510 splice site probably benign
R0058:Gins4 UTSW 8 23229510 splice site probably benign
R0267:Gins4 UTSW 8 23229410 splice site probably benign
R1428:Gins4 UTSW 8 23227128 missense probably damaging 1.00
R1519:Gins4 UTSW 8 23234776 missense probably benign 0.04
R4691:Gins4 UTSW 8 23237059 missense probably benign 0.40
R4933:Gins4 UTSW 8 23234780 missense probably damaging 0.99
R5088:Gins4 UTSW 8 23237068 missense possibly damaging 0.87
R8098:Gins4 UTSW 8 23237021 missense probably benign
RF006:Gins4 UTSW 8 23227167 missense possibly damaging 0.71
RF016:Gins4 UTSW 8 23232610 missense probably benign
Predicted Primers PCR Primer
(F):5'- GCCTTTCTACGTCCAAGTGG -3'
(R):5'- TTCCTGGCAGTTCCCAAAC -3'

Sequencing Primer
(F):5'- TGGTCCACACATTGCTGACG -3'
(R):5'- TACGTGTTTCTGCGAGTGAAAGAAC -3'
Posted On 2022-10-06