Incidental Mutation 'R4362:Gins1'
ID 377729
Institutional Source Beutler Lab
Gene Symbol Gins1
Ensembl Gene ENSMUSG00000027454
Gene Name GINS complex subunit 1
Synonyms Psf1, 2810418N01Rik
MMRRC Submission 041671-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4362 (G1)
Quality Score 30
Status Validated
Chromosome 2
Chromosomal Location 150751482-150773200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 150751682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 15 (R15H)
Ref Sequence ENSEMBL: ENSMUSP00000028948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028948]
AlphaFold Q9CZ15
Predicted Effect probably damaging
Transcript: ENSMUST00000028948
AA Change: R15H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028948
Gene: ENSMUSG00000027454
AA Change: R15H

DomainStartEndE-ValueType
PDB:2Q9Q|G 1 196 1e-141 PDB
Blast:KISc 112 188 3e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123217
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140950
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152991
Meta Mutation Damage Score 0.5453 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (39/39)
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 (GINS4; MIM 610611), Psf1, 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]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele display disorganized embryonic and extraembryonic structures and fail to develop past E5.5; mutant blastocysts fail to exhibit outgrowth in culture and show a cell proliferation defect and inner cell mass apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik C T 7: 28,947,687 (GRCm39) probably benign Het
Abcc6 A G 7: 45,648,256 (GRCm39) probably benign Het
Adamts13 G A 2: 26,894,794 (GRCm39) C1034Y probably damaging Het
Atp2b4 G T 1: 133,667,669 (GRCm39) P125Q possibly damaging Het
Atp8b1 C T 18: 64,697,608 (GRCm39) R412H probably damaging Het
Bicc1 ATGTG ATG 10: 70,779,204 (GRCm39) probably null Het
Cap1 G A 4: 122,756,780 (GRCm39) P302S probably benign Het
Chodl G T 16: 78,741,546 (GRCm39) probably null Het
Cplane1 T A 15: 8,300,229 (GRCm39) S3179T unknown Het
Cplx2 A T 13: 54,526,630 (GRCm39) T13S probably benign Het
Dennd5a G A 7: 109,495,550 (GRCm39) R1194W probably damaging Het
Dsc2 T A 18: 20,183,214 (GRCm39) D68V probably damaging Het
Dus4l A C 12: 31,698,827 (GRCm39) I59R probably damaging Het
Edc3 C T 9: 57,620,829 (GRCm39) P50L probably damaging Het
Ext1 G A 15: 52,970,987 (GRCm39) probably benign Het
Fam219a C T 4: 41,518,844 (GRCm39) probably benign Het
Fbxl3 A T 14: 103,329,749 (GRCm39) D106E probably damaging Het
Garem1 T C 18: 21,369,172 (GRCm39) N50D possibly damaging Het
Glrx2 A G 1: 143,617,418 (GRCm39) K44R possibly damaging Het
Icam1 A G 9: 20,937,608 (GRCm39) D215G possibly damaging Het
Nedd9 A T 13: 41,471,429 (GRCm39) I184N probably damaging Het
Or10a2 T C 7: 106,673,799 (GRCm39) S255P probably damaging Het
Or1e21 T C 11: 73,344,391 (GRCm39) M216V probably benign Het
Otulinl C T 15: 27,664,429 (GRCm39) probably null Het
Rhot2 A G 17: 26,061,065 (GRCm39) C147R probably damaging Het
Saxo4 T C 19: 10,452,385 (GRCm39) Y375C probably damaging Het
Setd4 T C 16: 93,380,574 (GRCm39) probably null Het
Slc6a4 A G 11: 76,907,904 (GRCm39) N356S probably damaging Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tmem168 A C 6: 13,595,072 (GRCm39) I381S probably benign Het
Tnfrsf11b T A 15: 54,119,555 (GRCm39) T140S possibly damaging Het
Ttpa G T 4: 20,023,827 (GRCm39) E130* probably null Het
Ubr5 A G 15: 38,078,647 (GRCm39) V8A probably damaging Het
Vmn2r18 C T 5: 151,496,368 (GRCm39) C450Y probably damaging Het
Vmn2r32 A T 7: 7,482,857 (GRCm39) L39* probably null Het
Other mutations in Gins1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1352:Gins1 UTSW 2 150,772,768 (GRCm39) nonsense probably null
R1575:Gins1 UTSW 2 150,754,758 (GRCm39) missense probably benign
R4361:Gins1 UTSW 2 150,767,821 (GRCm39) missense probably damaging 1.00
R4618:Gins1 UTSW 2 150,759,781 (GRCm39) splice site probably null
R5769:Gins1 UTSW 2 150,767,918 (GRCm39) missense probably damaging 0.99
R6642:Gins1 UTSW 2 150,770,038 (GRCm39) critical splice donor site probably null
R6700:Gins1 UTSW 2 150,758,148 (GRCm39) missense probably damaging 1.00
R7038:Gins1 UTSW 2 150,759,791 (GRCm39) missense probably damaging 1.00
R7072:Gins1 UTSW 2 150,751,671 (GRCm39) splice site probably null
R7325:Gins1 UTSW 2 150,758,086 (GRCm39) missense probably benign
R8458:Gins1 UTSW 2 150,772,807 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- TGCACTTCTATTGGTTGAGCC -3'
(R):5'- TTGGCCCCGTTTCAAACTTG -3'

Sequencing Primer
(F):5'- CACTTCTATTGGTTGAGCCTATTTG -3'
(R):5'- AAGCAACAGCAGGCATAGGCTCCGC -3'
Posted On 2016-03-25