Incidental Mutation 'IGL01713:Gosr1'
| ID |
104852 |
| 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: 0.956)
|
| Stock # |
IGL01713
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76617428-76654404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76645582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 66
(M66K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010536]
|
| AlphaFold |
O88630 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010536
AA Change: M66K
PolyPhen 2
Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000010536
Gene: ENSMUSG00000010392
AA Change: M66K
| Domain | Start | End | E-Value | Type |
|---|
|
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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
A |
G |
7: 130,740,772 (GRCm39) |
I148T |
possibly damaging |
Het |
| Aipl1 |
A |
G |
11: 71,927,449 (GRCm39) |
C89R |
probably damaging |
Het |
| Apaf1 |
G |
A |
10: 90,897,694 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,518,589 (GRCm39) |
V83A |
probably damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,921,025 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,946,512 (GRCm39) |
I418V |
possibly damaging |
Het |
| Cyp26b1 |
G |
A |
6: 84,551,283 (GRCm39) |
P427L |
probably benign |
Het |
| Dnal4 |
A |
G |
15: 79,646,606 (GRCm39) |
Y92H |
probably damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Epha3 |
G |
A |
16: 63,372,925 (GRCm39) |
T926I |
probably benign |
Het |
| Fgg |
T |
C |
3: 82,915,723 (GRCm39) |
S55P |
probably benign |
Het |
| Igkv12-89 |
G |
T |
6: 68,812,296 (GRCm39) |
|
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,410,756 (GRCm39) |
E451G |
probably damaging |
Het |
| Phkg1 |
T |
C |
5: 129,895,714 (GRCm39) |
E179G |
probably benign |
Het |
| Pnpla1 |
A |
T |
17: 29,100,579 (GRCm39) |
D482V |
possibly damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,652 (GRCm39) |
V109A |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Pus7l |
T |
C |
15: 94,429,493 (GRCm39) |
T442A |
probably benign |
Het |
| Sall3 |
A |
G |
18: 81,013,062 (GRCm39) |
S1125P |
probably damaging |
Het |
| Scyl2 |
A |
C |
10: 89,490,087 (GRCm39) |
I150S |
probably damaging |
Het |
| Sf1 |
T |
A |
19: 6,424,319 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
A |
G |
6: 142,032,293 (GRCm39) |
S611P |
possibly damaging |
Het |
| Vmn2r103 |
G |
T |
17: 20,014,330 (GRCm39) |
C374F |
probably damaging |
Het |
| Xntrpc |
T |
C |
7: 101,733,059 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gosr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation