Incidental Mutation 'R7507:Gosr1'
ID 581858
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 045580-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R7507 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 76617428-76654404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76645240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 101 (N101K)
Ref Sequence ENSEMBL: ENSMUSP00000010536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010536]
AlphaFold O88630
Predicted Effect probably benign
Transcript: ENSMUST00000010536
AA Change: N101K

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000010536
Gene: ENSMUSG00000010392
AA Change: N101K

DomainStartEndE-ValueType
Pfam:V-SNARE_C 161 226 1.9e-25 PFAM
transmembrane domain 230 249 N/A INTRINSIC
Meta Mutation Damage Score 0.1387 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (43/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,652,177 (GRCm39) T1359S probably benign Het
Adam8 C T 7: 139,567,091 (GRCm39) probably null Het
Adnp2 A G 18: 80,174,068 (GRCm39) S114P probably benign Het
BC051019 T A 7: 109,315,475 (GRCm39) D260V possibly damaging Het
Btnl10 A G 11: 58,811,384 (GRCm39) T236A probably benign Het
Cacna1c A T 6: 119,034,200 (GRCm39) L109Q Het
Clint1 C A 11: 45,799,776 (GRCm39) Q512K possibly damaging Het
Dop1a A G 9: 86,418,002 (GRCm39) N1957S probably benign Het
Gria1 A G 11: 57,119,765 (GRCm39) T350A probably benign Het
Hs3st5 T A 10: 36,709,011 (GRCm39) V182D probably damaging Het
Igkv4-80 G T 6: 68,993,677 (GRCm39) S71R probably benign Het
Kif2b A G 11: 91,468,269 (GRCm39) F5L probably benign Het
Med1 A G 11: 98,048,852 (GRCm39) L648P probably damaging Het
Mgat4a G A 1: 37,491,608 (GRCm39) L375F probably damaging Het
Mlph A T 1: 90,855,429 (GRCm39) probably benign Het
Nbeal1 T C 1: 60,274,626 (GRCm39) S346P probably damaging Het
Nhlrc2 G A 19: 56,585,810 (GRCm39) V682I not run Het
Nos3 T C 5: 24,577,642 (GRCm39) M552T probably damaging Het
Or4e2 A G 14: 52,687,930 (GRCm39) N20S probably benign Het
Or5w19 T C 2: 87,698,713 (GRCm39) I126T probably damaging Het
Or6c209 T A 10: 129,483,366 (GRCm39) I123N probably damaging Het
Pcdha5 A T 18: 37,093,909 (GRCm39) R139S probably benign Het
Pik3r1 G A 13: 101,845,490 (GRCm39) S147L probably benign Het
Plppr4 T A 3: 117,115,754 (GRCm39) H701L possibly damaging Het
Pnpla1 T C 17: 29,095,791 (GRCm39) Y71H probably damaging Het
Ppp1r12c G A 7: 4,486,970 (GRCm39) A521V probably benign Het
Rasgrp3 C A 17: 75,804,055 (GRCm39) D119E probably damaging Het
Rnf216 A T 5: 143,075,557 (GRCm39) D342E probably damaging Het
Rnpc3 A T 3: 113,410,410 (GRCm39) S294T probably benign Het
Sepsecs A G 5: 52,801,397 (GRCm39) F422L probably damaging Het
Sgcz T A 8: 38,420,200 (GRCm39) E17D probably benign Het
Slc2a5 T C 4: 150,210,107 (GRCm39) Y31H probably damaging Het
Spag9 A G 11: 93,958,906 (GRCm39) E310G probably benign Het
Stat4 A G 1: 52,117,733 (GRCm39) Y288C probably damaging Het
Tet1 A G 10: 62,668,671 (GRCm39) probably null Het
Trim62 A G 4: 128,790,664 (GRCm39) T154A probably benign Het
Tubb4a T C 17: 57,388,642 (GRCm39) D128G probably damaging Het
Ube3d G A 9: 86,304,939 (GRCm39) A301V possibly damaging Het
Utp6 A G 11: 79,833,012 (GRCm39) S444P possibly damaging Het
Vasn T C 16: 4,467,345 (GRCm39) C431R probably damaging Het
Zfp260 T C 7: 29,804,291 (GRCm39) S64P probably damaging Het
Zfp451 A T 1: 33,808,840 (GRCm39) M1007K probably damaging Het
Zfp606 C A 7: 12,226,868 (GRCm39) Q330K 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
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
R8385:Gosr1 UTSW 11 76,620,967 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- GTTTGCCTTCCAATCTATACATCTGT -3'
(R):5'- TAATGGCAGCCATCCAAATTGT -3'

Sequencing Primer
(F):5'- ACCACAGTTAGCTACTCC -3'
(R):5'- TGGCAGCCATCCAAATTGTAACATG -3'
Posted On 2019-10-17