Incidental Mutation 'IGL02939:Gosr1'
ID 365960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gosr1
Ensembl Gene ENSMUSG00000010392
Gene Name golgi SNAP receptor complex member 1
Synonyms GOS-28, Cis-Golgi SNARE, GS28
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # IGL02939
Quality Score
Status
Chromosome 11
Chromosomal Location 76617428-76654404 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 76641732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000010536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010536]
AlphaFold O88630
Predicted Effect probably benign
Transcript: ENSMUST00000010536
SMART Domains Protein: ENSMUSP00000010536
Gene: ENSMUSG00000010392

DomainStartEndE-ValueType
Pfam:V-SNARE_C 161 226 1.9e-25 PFAM
transmembrane domain 230 249 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137767
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 trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6ap1 A G X: 73,340,924 (GRCm39) D47G probably benign Het
Atr T C 9: 95,747,314 (GRCm39) F199L probably benign Het
Bivm C A 1: 44,182,120 (GRCm39) H443N probably benign Het
Btnl2 A T 17: 34,580,043 (GRCm39) H192L probably benign Het
Ccdc178 A T 18: 22,253,775 (GRCm39) C155S probably benign Het
Celsr1 C A 15: 85,785,673 (GRCm39) V2934L probably benign Het
Celsr3 T C 9: 108,726,652 (GRCm39) S3294P probably damaging Het
Ddx10 T A 9: 53,115,579 (GRCm39) E585V possibly damaging Het
Elapor2 T C 5: 9,511,478 (GRCm39) Y947H probably damaging Het
Eps15l1 A T 8: 73,138,606 (GRCm39) probably benign Het
Erlin1 G T 19: 44,051,491 (GRCm39) T70K probably damaging Het
Ext2 A T 2: 93,534,964 (GRCm39) probably null Het
Fam124a G A 14: 62,793,368 (GRCm39) probably null Het
Fam53a T C 5: 33,765,103 (GRCm39) D201G probably damaging Het
Fgf14 C T 14: 124,369,891 (GRCm39) G136D possibly damaging Het
Gdi2 A T 13: 3,614,623 (GRCm39) T323S probably benign Het
Gemin5 A T 11: 58,047,556 (GRCm39) N339K probably damaging Het
Golga4 A G 9: 118,364,522 (GRCm39) E286G probably benign Het
Golga4 A C 9: 118,363,700 (GRCm39) K233T probably damaging Het
Haus8 A G 8: 71,708,361 (GRCm39) probably benign Het
Itgb3bp T C 4: 99,690,373 (GRCm39) T49A probably null Het
Ldlrad4 A G 18: 68,387,585 (GRCm39) D299G probably damaging Het
Lpo A G 11: 87,706,004 (GRCm39) M273T possibly damaging Het
Map3k4 T A 17: 12,491,036 (GRCm39) S132C probably damaging Het
Mycbp2 T G 14: 103,414,715 (GRCm39) T2566P probably benign Het
Nalcn T C 14: 123,536,284 (GRCm39) E1255G probably null Het
Nop56 A T 2: 130,120,117 (GRCm39) K157N probably damaging Het
Or10g9 C T 9: 39,912,194 (GRCm39) E110K probably benign Het
Or6c1 A T 10: 129,517,857 (GRCm39) Y250* probably null Het
Pcdh15 A G 10: 74,340,648 (GRCm39) probably benign Het
Pi4ka T C 16: 17,172,074 (GRCm39) H557R probably damaging Het
Plekha4 C T 7: 45,181,787 (GRCm39) Q64* probably null Het
Ppp2r3c G A 12: 55,345,192 (GRCm39) probably benign Het
Rgmb C T 17: 16,027,755 (GRCm39) M321I probably benign Het
Rnf31 T C 14: 55,833,131 (GRCm39) S363P probably benign Het
Sap18b T A 8: 96,552,329 (GRCm39) M113K probably benign Het
Scara3 T A 14: 66,169,105 (GRCm39) M171L probably benign Het
Slc9a2 T G 1: 40,781,863 (GRCm39) M364R probably damaging Het
Sorcs1 C T 19: 50,666,368 (GRCm39) W180* probably null Het
Stat6 T A 10: 127,482,809 (GRCm39) M10K probably benign Het
Sun1 T C 5: 139,221,243 (GRCm39) probably benign Het
Tead2 T C 7: 44,869,858 (GRCm39) probably benign Het
Tjp1 T G 7: 64,964,638 (GRCm39) E844D probably damaging Het
Tmtc2 A G 10: 105,206,411 (GRCm39) S295P probably damaging Het
Ttn G A 2: 76,612,756 (GRCm39) R17108C probably damaging Het
Ubr1 T C 2: 120,711,664 (GRCm39) probably null Het
Vmn2r108 T A 17: 20,691,545 (GRCm39) H326L probably benign Het
Xdh A G 17: 74,250,840 (GRCm39) probably null Het
Zfp385b A G 2: 77,242,403 (GRCm39) S439P probably benign Het
Zfp597 G A 16: 3,683,805 (GRCm39) S317L probably benign Het
Zfp638 A G 6: 83,946,214 (GRCm39) D1081G probably damaging Het
Zfp93 C T 7: 23,974,509 (GRCm39) H165Y possibly damaging Het
Other mutations in Gosr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01713:Gosr1 APN 11 76,645,582 (GRCm39) missense probably benign 0.34
IGL02640:Gosr1 APN 11 76,645,603 (GRCm39) missense probably benign 0.01
IGL02686:Gosr1 APN 11 76,641,688 (GRCm39) missense probably benign 0.00
IGL03325:Gosr1 APN 11 76,645,229 (GRCm39) missense probably benign 0.04
R0743:Gosr1 UTSW 11 76,620,972 (GRCm39) missense probably benign
R0884:Gosr1 UTSW 11 76,620,972 (GRCm39) missense probably benign
R1712:Gosr1 UTSW 11 76,641,704 (GRCm39) missense possibly damaging 0.58
R2064:Gosr1 UTSW 11 76,628,224 (GRCm39) missense probably benign 0.00
R4403:Gosr1 UTSW 11 76,645,561 (GRCm39) missense possibly damaging 0.77
R4919:Gosr1 UTSW 11 76,625,392 (GRCm39) splice site probably null
R7342:Gosr1 UTSW 11 76,621,033 (GRCm39) missense probably benign 0.00
R7507:Gosr1 UTSW 11 76,645,240 (GRCm39) missense probably benign 0.14
R8385:Gosr1 UTSW 11 76,620,967 (GRCm39) missense possibly damaging 0.89
Posted On 2015-12-18