Incidental Mutation 'IGL02640:Gosr1'
ID301683
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gosr1
Ensembl Gene ENSMUSG00000010392
Gene Namegolgi SNAP receptor complex member 1
SynonymsGOS-28, Cis-Golgi SNARE, GS28
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.956) question?
Stock #IGL02640
Quality Score
Status
Chromosome11
Chromosomal Location76726602-76763579 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 76754777 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 59 (N59S)
Ref Sequence ENSEMBL: ENSMUSP00000010536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010536]
Predicted Effect probably benign
Transcript: ENSMUST00000010536
AA Change: N59S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000010536
Gene: ENSMUSG00000010392
AA Change: N59S

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932429P05Rik T C X: 89,752,604 V14A probably benign Het
Alkbh3 C A 2: 93,996,361 R165L possibly damaging Het
Arap3 A G 18: 37,987,802 V730A possibly damaging Het
Arcn1 A C 9: 44,751,317 I344S probably damaging Het
Ascc3 A C 10: 50,767,374 D1807A possibly damaging Het
Atp2b3 A G X: 73,542,205 S615G probably benign Het
Ccdc40 A G 11: 119,238,078 N450S probably benign Het
Cep41 T C 6: 30,658,868 E160G probably benign Het
Cxxc1 T C 18: 74,221,183 L654P probably damaging Het
Dupd1 T A 14: 21,703,055 T8S probably damaging Het
Gnb4 C T 3: 32,591,225 A106T probably benign Het
Itgav A G 2: 83,791,939 T622A probably benign Het
Lamc2 A G 1: 153,152,057 I207T probably damaging Het
Lce1c C A 3: 92,680,538 probably benign Het
Mcm3ap G T 10: 76,506,421 D1583Y probably damaging Het
Mphosph9 A T 5: 124,315,500 F220I possibly damaging Het
Olfr113 A G 17: 37,575,021 V134A possibly damaging Het
Olfr698 A T 7: 106,753,352 F12Y probably damaging Het
Plcb1 T G 2: 135,220,859 probably benign Het
Polr3c G A 3: 96,716,686 T312M probably damaging Het
Ptpn12 G T 5: 21,019,246 D116E probably damaging Het
Ptprb A G 10: 116,338,664 D747G probably damaging Het
Scn9a A G 2: 66,536,096 probably null Het
Slit3 T C 11: 35,700,345 V1328A probably benign Het
Sucla2 C A 14: 73,581,806 S264Y probably benign Het
Tagln3 T C 16: 45,724,233 D25G probably benign Het
Tbck A G 3: 132,774,486 T709A probably benign Het
Tead1 C T 7: 112,861,456 A189V probably benign Het
Tmem234 A G 4: 129,601,103 Q46R probably damaging Het
Trpm1 T A 7: 64,219,133 L395Q probably damaging Het
Tti2 T A 8: 31,155,914 W419R probably damaging Het
Vmn2r3 A T 3: 64,287,395 M34K probably benign Het
Vps13c G T 9: 67,886,248 probably benign Het
Zfp521 A T 18: 13,844,930 Y809N probably benign Het
Other mutations in Gosr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01713:Gosr1 APN 11 76754756 missense probably benign 0.34
IGL02686:Gosr1 APN 11 76750862 missense probably benign 0.00
IGL02939:Gosr1 APN 11 76750906 splice site probably benign
IGL03325:Gosr1 APN 11 76754403 missense probably benign 0.04
R0743:Gosr1 UTSW 11 76730146 missense probably benign
R0884:Gosr1 UTSW 11 76730146 missense probably benign
R1712:Gosr1 UTSW 11 76750878 missense possibly damaging 0.58
R2064:Gosr1 UTSW 11 76737398 missense probably benign 0.00
R4403:Gosr1 UTSW 11 76754735 missense possibly damaging 0.77
R4919:Gosr1 UTSW 11 76734566 splice site probably null
R7342:Gosr1 UTSW 11 76730207 missense probably benign 0.00
R7507:Gosr1 UTSW 11 76754414 missense probably benign 0.14
Posted On2015-04-16