Incidental Mutation 'IGL03194:Gins4'
ID412760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gins4
Ensembl Gene ENSMUSG00000031546
Gene NameGINS complex subunit 4 (Sld5 homolog)
Synonyms2810037C03Rik, SLD5, 4933405K01Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03194
Quality Score
Status
Chromosome8
Chromosomal Location23226616-23237659 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 23234746 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033950]
Predicted Effect probably benign
Transcript: ENSMUST00000033950
SMART Domains Protein: ENSMUSP00000033950
Gene: ENSMUSG00000031546

DomainStartEndE-ValueType
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 83,734,018 S64G possibly damaging Het
Clcn7 T C 17: 25,150,548 V306A probably damaging Het
Clec4b2 G A 6: 123,200,987 G87D probably benign Het
Disp2 A T 2: 118,787,629 R219W probably damaging Het
Dstyk A T 1: 132,456,316 probably benign Het
F830045P16Rik T C 2: 129,460,320 S451G possibly damaging Het
Fam155a T C 8: 9,232,975 D358G probably damaging Het
Fat2 T A 11: 55,310,995 T418S probably benign Het
Fto G A 8: 91,409,787 D228N probably damaging Het
Gm10220 T A 5: 26,121,233 R40W probably damaging Het
Gm11149 G A 9: 49,546,346 probably benign Het
Gm5431 T G 11: 48,895,537 probably benign Het
Hebp1 A G 6: 135,155,192 M59T probably benign Het
Lrp1 A T 10: 127,568,685 V1989D probably damaging Het
Lrrc6 A T 15: 66,442,199 D317E probably benign Het
Ltc4s T C 11: 50,236,571 *151W probably null Het
Map3k21 A G 8: 125,924,062 T268A possibly damaging Het
Mdp1 A G 14: 55,658,987 L164P probably damaging Het
Mroh4 T C 15: 74,611,539 T650A probably damaging Het
Mss51 T C 14: 20,485,097 N202D probably benign Het
Mtus2 G A 5: 148,107,103 A834T probably damaging Het
Ncoa6 A G 2: 155,415,868 M585T possibly damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Npvf A C 6: 50,650,898 D180E possibly damaging Het
Nup188 A T 2: 30,304,334 Y173F possibly damaging Het
Oas3 C A 5: 120,758,953 A868S probably damaging Het
Pkhd1l1 A G 15: 44,518,135 T1086A probably damaging Het
Pla2g6 G A 15: 79,317,785 P62L probably damaging Het
Rara T C 11: 98,971,664 M297T possibly damaging Het
Tmc1 T C 19: 20,804,653 E567G probably damaging Het
Tnxb C T 17: 34,695,947 Q1970* probably null Het
Usp11 T C X: 20,712,417 I162T probably benign Het
Utrn A G 10: 12,406,429 probably benign Het
Zfhx3 A G 8: 108,794,727 E827G probably damaging 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
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
Posted On2016-08-02