Incidental Mutation 'R4403:Gosr1'
| ID |
326733 |
| 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 |
041687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R4403 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76617428-76654404 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76645561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 73
(E73G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010536]
|
| AlphaFold |
O88630 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010536
AA Change: E73G
PolyPhen 2
Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000010536
Gene: ENSMUSG00000010392
AA Change: E73G
| 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
|
| Meta Mutation Damage Score |
0.7107 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,595 (GRCm39) |
Y2037C |
probably damaging |
Het |
| Adam33 |
T |
C |
2: 130,895,190 (GRCm39) |
T647A |
probably benign |
Het |
| Adamts9 |
C |
T |
6: 92,836,845 (GRCm39) |
A636T |
probably damaging |
Het |
| Aldh3b2 |
A |
T |
19: 4,030,059 (GRCm39) |
I348F |
probably damaging |
Het |
| Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,704,906 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,081,306 (GRCm39) |
R1361G |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Cbr2 |
T |
A |
11: 120,621,628 (GRCm39) |
N83I |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,176,117 (GRCm39) |
N561S |
probably benign |
Het |
| Dpp6 |
T |
A |
5: 27,923,460 (GRCm39) |
L690Q |
probably damaging |
Het |
| Eef1d |
C |
T |
15: 75,774,769 (GRCm39) |
V213I |
probably benign |
Het |
| Enthd1 |
A |
G |
15: 80,337,025 (GRCm39) |
S470P |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,856,169 (GRCm39) |
Y3871C |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
| Il11 |
T |
C |
7: 4,778,995 (GRCm39) |
Y45C |
probably damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,700,538 (GRCm39) |
N259S |
probably damaging |
Het |
| Kdm5d |
G |
T |
Y: 899,830 (GRCm39) |
R132L |
probably damaging |
Het |
| Med21 |
C |
T |
6: 146,550,680 (GRCm39) |
R64* |
probably null |
Het |
| Muc19 |
A |
T |
15: 91,755,768 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrp4e |
T |
A |
7: 23,020,888 (GRCm39) |
C458* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,959,919 (GRCm39) |
Q3525R |
possibly damaging |
Het |
| Oga |
A |
T |
19: 45,767,078 (GRCm39) |
D99E |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,843,490 (GRCm39) |
L1823S |
probably damaging |
Het |
| Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
| Prmt3 |
T |
A |
7: 49,430,105 (GRCm39) |
H69Q |
probably damaging |
Het |
| Rcor3 |
T |
C |
1: 191,804,212 (GRCm39) |
|
probably null |
Het |
| Rhoa |
T |
A |
9: 108,214,013 (GRCm39) |
I192N |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,178,157 (GRCm39) |
I1532V |
possibly damaging |
Het |
| Scn11a |
T |
C |
9: 119,624,733 (GRCm39) |
T530A |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,733,137 (GRCm39) |
F39L |
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,275,206 (GRCm39) |
M134K |
probably damaging |
Het |
|
| Other mutations in Gosr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAATTCCCGCAAATAACATGTTAC -3'
(R):5'- TCTGAGCCATTTTGCTGACC -3'
Sequencing Primer
(F):5'- ACATGTTACAATTTGGATGGCTGCC -3'
(R):5'- GAGCCATTTTGCTGACCATAAAATC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation