Incidental Mutation 'R5769:Gins1'
ID 501507
Institutional Source Beutler Lab
Gene Symbol Gins1
Ensembl Gene ENSMUSG00000027454
Gene Name GINS complex subunit 1
Synonyms Psf1, 2810418N01Rik
MMRRC Submission 043369-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5769 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 150751482-150773200 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 150767918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 149 (E149D)
Ref Sequence ENSEMBL: ENSMUSP00000028948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028948]
AlphaFold Q9CZ15
Predicted Effect probably damaging
Transcript: ENSMUST00000028948
AA Change: E149D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028948
Gene: ENSMUSG00000027454
AA Change: E149D

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 0.3508 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (65/66)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,644,595 (GRCm39) V160E possibly damaging Het
Abcb1a A C 5: 8,733,426 (GRCm39) E106A probably benign Het
Acap3 A T 4: 155,986,857 (GRCm39) D371V probably damaging Het
Ahi1 T C 10: 20,835,981 (GRCm39) probably null Het
Coq8a A G 1: 180,006,681 (GRCm39) Y69H probably damaging Het
Defb33 T A 8: 21,387,543 (GRCm39) F27I possibly damaging Het
Dhx29 T A 13: 113,090,251 (GRCm39) L776Q probably damaging Het
Dnah3 G A 7: 119,689,175 (GRCm39) R80* probably null Het
Dtna A T 18: 23,784,611 (GRCm39) D646V probably benign Het
Eml5 T A 12: 98,756,878 (GRCm39) D1964V probably damaging Het
Fbn2 A T 18: 58,238,271 (GRCm39) N575K probably damaging Het
Fbxo38 G A 18: 62,648,036 (GRCm39) P834L probably benign Het
Fyb2 G T 4: 104,870,518 (GRCm39) K706N probably damaging Het
Fyb2 T A 4: 104,872,841 (GRCm39) V738E probably damaging Het
Gcm1 A G 9: 77,972,249 (GRCm39) T397A probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Grin2a C T 16: 9,579,390 (GRCm39) R291K possibly damaging Het
Hdac10 T C 15: 89,007,819 (GRCm39) M646V probably benign Het
Hes6 G T 1: 91,340,671 (GRCm39) R38S probably damaging Het
Hipk3 G A 2: 104,265,298 (GRCm39) P667S possibly damaging Het
Jrk T C 15: 74,577,917 (GRCm39) Q456R probably benign Het
Klf18 A C 4: 117,586,162 (GRCm39) probably benign Het
Loxl3 A G 6: 83,027,581 (GRCm39) T708A probably damaging Het
Lyg1 T C 1: 37,989,831 (GRCm39) S19G unknown Het
Magel2 T A 7: 62,027,861 (GRCm39) M255K probably benign Het
Mctp1 A G 13: 76,907,927 (GRCm39) D242G probably damaging Het
Med13 A T 11: 86,236,829 (GRCm39) N109K probably benign Het
Mms19 A G 19: 41,952,825 (GRCm39) F95L probably damaging Het
Nav1 A G 1: 135,379,995 (GRCm39) L1569P probably damaging Het
Nup188 A G 2: 30,220,747 (GRCm39) E940G probably benign Het
Oas1d T C 5: 121,054,917 (GRCm39) F163S probably benign Het
Odf2l A G 3: 144,841,492 (GRCm39) K304R possibly damaging Het
Otud3 T A 4: 138,625,421 (GRCm39) N211I possibly damaging Het
Pabpc6 A T 17: 9,886,772 (GRCm39) L593* probably null Het
Pdcd11 T A 19: 47,091,076 (GRCm39) L350Q possibly damaging Het
Pdia4 A G 6: 47,792,446 (GRCm39) probably benign Het
Pik3cb G A 9: 98,975,212 (GRCm39) Q223* probably null Het
Plb1 G A 5: 32,474,866 (GRCm39) V696M probably benign Het
Ppp2r5a T C 1: 191,104,863 (GRCm39) D61G probably benign Het
Preb G T 5: 31,115,635 (GRCm39) Y87* probably null Het
Rdh16f2 A T 10: 127,712,758 (GRCm39) N252I probably benign Het
Rida T C 15: 34,484,704 (GRCm39) probably benign Het
Rxrb T C 17: 34,251,821 (GRCm39) probably benign Het
Sis T A 3: 72,835,568 (GRCm39) K931N probably damaging Het
Srcap T A 7: 127,158,994 (GRCm39) probably benign Het
Srp68 A G 11: 116,137,495 (GRCm39) S525P probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Synj1 A G 16: 90,735,141 (GRCm39) probably benign Het
Syt12 T C 19: 4,501,072 (GRCm39) Y326C probably damaging Het
Tesk2 A G 4: 116,659,512 (GRCm39) probably null Het
Tmem41b G A 7: 109,577,945 (GRCm39) T113I possibly damaging Het
Tmtc2 T C 10: 105,205,907 (GRCm39) I463V probably benign Het
Trak1 A T 9: 121,277,904 (GRCm39) D320V probably damaging Het
Ushbp1 A T 8: 71,838,863 (GRCm39) N570K probably benign Het
Vmn1r33 T A 6: 66,588,817 (GRCm39) I246F possibly damaging Het
Vmn2r54 A C 7: 12,349,209 (GRCm39) L791R possibly damaging Het
Washc1 A T 17: 66,425,111 (GRCm39) T372S probably benign Het
Zfp1005 A G 2: 150,110,198 (GRCm39) E296G possibly damaging 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
R4362:Gins1 UTSW 2 150,751,682 (GRCm39) missense probably damaging 1.00
R4618:Gins1 UTSW 2 150,759,781 (GRCm39) splice site probably null
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'- TACGTGTCTGACATTTGCCAG -3'
(R):5'- TTGTGGTACCAAAGACAGAACTAC -3'

Sequencing Primer
(F):5'- AGATCCAGTCTTAGCATGCG -3'
(R):5'- ACCAAAGACAGAACTACTAAAATGAG -3'
Posted On 2017-12-01