Incidental Mutation 'IGL02568:Gins3'
ID 298905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gins3
Ensembl Gene ENSMUSG00000031669
Gene Name GINS complex subunit 3
Synonyms 2700085M18Rik, Psf3
Accession Numbers
Essential gene? Not available question?
Stock # IGL02568
Quality Score
Status
Chromosome 8
Chromosomal Location 96360187-96371687 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96364606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 119 (F119L)
Ref Sequence ENSEMBL: ENSMUSP00000148516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034094] [ENSMUST00000212434]
AlphaFold Q9CY94
Predicted Effect probably benign
Transcript: ENSMUST00000034094
AA Change: F119L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000034094
Gene: ENSMUSG00000031669
AA Change: F119L

DomainStartEndE-ValueType
Pfam:Sld5 66 173 1.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212434
AA Change: F119L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,033,184 (GRCm39) probably benign Het
Abcg5 C T 17: 84,977,827 (GRCm39) R143Q probably damaging Het
Arap3 G A 18: 38,129,711 (GRCm39) T150I probably benign Het
Arhgap32 T C 9: 32,158,490 (GRCm39) V175A probably damaging Het
Bpifb3 A G 2: 153,766,721 (GRCm39) E208G probably benign Het
C2 T A 17: 35,083,325 (GRCm39) D518V possibly damaging Het
C6 T A 15: 4,820,646 (GRCm39) C552* probably null Het
Ccdc38 A T 10: 93,415,685 (GRCm39) D447V probably damaging Het
Cept1 C T 3: 106,411,035 (GRCm39) R386H probably benign Het
Comt A G 16: 18,230,454 (GRCm39) V85A probably damaging Het
Ddx24 G T 12: 103,383,571 (GRCm39) L627I probably damaging Het
Efemp1 T C 11: 28,866,971 (GRCm39) probably null Het
Etf1 T C 18: 35,046,714 (GRCm39) T99A possibly damaging Het
Fhad1 T C 4: 141,660,105 (GRCm39) E68G probably null Het
Fzd3 C A 14: 65,473,389 (GRCm39) probably benign Het
Golga5 G T 12: 102,438,338 (GRCm39) V18L probably benign Het
Il16 C A 7: 83,310,484 (GRCm39) R474M probably damaging Het
Itpr1 C A 6: 108,316,515 (GRCm39) Q71K possibly damaging Het
Kif21b T G 1: 136,100,605 (GRCm39) L1562R probably damaging Het
Lamc2 T C 1: 153,042,008 (GRCm39) E42G possibly damaging Het
Mmp3 T G 9: 7,446,001 (GRCm39) L35R probably benign Het
Naip6 C A 13: 100,452,780 (GRCm39) G94W probably damaging Het
Nccrp1 G A 7: 28,243,905 (GRCm39) A226V probably damaging Het
Nckap5l A G 15: 99,323,564 (GRCm39) Y980H probably damaging Het
Ncoa3 T C 2: 165,911,277 (GRCm39) S1345P probably damaging Het
Nop2 T C 6: 125,117,813 (GRCm39) S455P probably damaging Het
Nup93 T C 8: 95,036,263 (GRCm39) F689S probably damaging Het
Or5b112 T C 19: 13,319,583 (GRCm39) F154L probably benign Het
Plekhm1 T A 11: 103,285,876 (GRCm39) E186D probably damaging Het
Plxdc1 T C 11: 97,869,390 (GRCm39) Q66R probably damaging Het
Prkdc T G 16: 15,544,406 (GRCm39) Y1799D probably damaging Het
Rasa2 A G 9: 96,462,563 (GRCm39) F220L probably damaging Het
Rftn1 T C 17: 50,344,027 (GRCm39) D87G probably damaging Het
Rgs6 C T 12: 83,117,376 (GRCm39) T266M probably benign Het
Sec16a A G 2: 26,326,054 (GRCm39) Y1208H probably damaging Het
Slc12a1 G T 2: 125,026,648 (GRCm39) V428L probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T A 4: 58,135,441 (GRCm39) T556S probably benign Het
Tanc2 T A 11: 105,667,777 (GRCm39) N119K probably benign Het
Tpgs1 T A 10: 79,505,238 (GRCm39) probably benign Het
Tpm3-rs7 A G 14: 113,552,370 (GRCm39) E88G probably damaging Het
Tsr1 T C 11: 74,791,204 (GRCm39) V261A probably benign Het
Usp18 C T 6: 121,238,050 (GRCm39) T143I probably benign Het
Vmn2r24 T C 6: 123,792,812 (GRCm39) I713T probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Gins3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03346:Gins3 APN 8 96,369,903 (GRCm39) missense probably benign 0.33
R0294:Gins3 UTSW 8 96,364,547 (GRCm39) missense possibly damaging 0.95
R1283:Gins3 UTSW 8 96,364,574 (GRCm39) missense probably damaging 1.00
R7226:Gins3 UTSW 8 96,364,499 (GRCm39) missense probably damaging 0.99
R8354:Gins3 UTSW 8 96,364,646 (GRCm39) missense probably benign 0.32
Z1176:Gins3 UTSW 8 96,360,148 (GRCm39) unclassified probably benign
Posted On 2015-04-16