Incidental Mutation 'R4919:Gosr1'
ID 378479
Institutional Source Beutler Lab
Gene Symbol Gosr1
Ensembl Gene ENSMUSG00000010392
Gene Name golgi SNAP receptor complex member 1
Synonyms GOS-28, Cis-Golgi SNARE, GS28
MMRRC Submission 042521-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R4919 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 76617428-76654404 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to A at 76625392 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 null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 100% (46/46)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
3425401B19Rik T C 14: 32,385,245 (GRCm39) D240G possibly damaging Het
Aplf T C 6: 87,607,046 (GRCm39) D456G possibly damaging Het
Brd8 A G 18: 34,740,489 (GRCm39) F445S probably damaging Het
Coro1b C T 19: 4,200,709 (GRCm39) R214C possibly damaging Het
Dop1a T A 9: 86,402,109 (GRCm39) I1101K possibly damaging Het
Enpp1 A G 10: 24,523,983 (GRCm39) V728A probably benign Het
Grhl3 T A 4: 135,286,415 (GRCm39) K89* probably null Het
Ino80 T A 2: 119,273,073 (GRCm39) T468S probably damaging Het
Kcnab2 T C 4: 152,486,397 (GRCm39) K134E probably damaging Het
Klhl17 C T 4: 156,318,344 (GRCm39) V93I possibly damaging Het
Kmt2c G T 5: 25,519,393 (GRCm39) P2239Q possibly damaging Het
Lnpep A G 17: 17,799,173 (GRCm39) F161L probably damaging Het
Lrp1b T A 2: 40,537,246 (GRCm39) I14F probably benign Het
Mbtd1 T A 11: 93,813,974 (GRCm39) probably null Het
Musk A C 4: 58,366,899 (GRCm39) I506L probably damaging Het
Mydgf C T 17: 56,483,953 (GRCm39) V158I probably damaging Het
Ncapd3 C T 9: 26,963,071 (GRCm39) P459S possibly damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or13a19 A T 7: 139,903,427 (GRCm39) K272* probably null Het
Or2w6 A T 13: 21,842,794 (GRCm39) I233N possibly damaging Het
Or5d45 A G 2: 88,153,992 (GRCm39) V19A probably benign Het
Pnmt T A 11: 98,277,477 (GRCm39) L7Q probably benign Het
Rerg T C 6: 137,033,142 (GRCm39) I197V probably damaging Het
Sgo2a T C 1: 58,037,293 (GRCm39) S13P probably damaging Het
Sim2 T C 16: 93,910,194 (GRCm39) S199P probably benign Het
Smc1b T C 15: 85,001,305 (GRCm39) probably benign Het
Spata7 T C 12: 98,614,712 (GRCm39) S115P possibly damaging Het
Ssh2 A G 11: 77,316,146 (GRCm39) T250A possibly damaging Het
Sv2a A G 3: 96,098,071 (GRCm39) N558S probably benign Het
Tia1 T A 6: 86,401,305 (GRCm39) probably benign Het
Tmem39a A G 16: 38,405,561 (GRCm39) Y46C probably benign Het
Vmn2r2 A G 3: 64,024,578 (GRCm39) S668P possibly damaging Het
Vwa1 C A 4: 155,855,057 (GRCm39) A326S probably benign Het
Xpo6 A G 7: 125,752,115 (GRCm39) M327T probably benign 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
IGL02939:Gosr1 APN 11 76,641,732 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGGTGAGCTGTTCTCTAGAAATAG -3'
(R):5'- TTCCTGTGTAACAGTGGGCAG -3'

Sequencing Primer
(F):5'- AATTTGCACCTCTACCCCA -3'
(R):5'- GGATTGGTACCCATTATCACTGTAGC -3'
Posted On 2016-04-15