Incidental Mutation 'R2181:Gorasp1'
ID |
237192 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gorasp1
|
Ensembl Gene |
ENSMUSG00000032513 |
Gene Name |
golgi reassembly stacking protein 1 |
Synonyms |
GOLPH5, P65, 5430411C10Rik, GRASP65 |
MMRRC Submission |
040183-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.206)
|
Stock # |
R2181 (G1)
|
Quality Score |
190 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
119754739-119766624 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119757422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 317
(S317P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035099
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035099]
[ENSMUST00000036561]
[ENSMUST00000177637]
[ENSMUST00000215167]
[ENSMUST00000215307]
|
AlphaFold |
Q91X51 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035099
AA Change: S317P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000035099 Gene: ENSMUSG00000032513 AA Change: S317P
Domain | Start | End | E-Value | Type |
Pfam:GRASP55_65
|
2 |
99 |
2.6e-22 |
PFAM |
Pfam:GRASP55_65
|
68 |
204 |
4e-60 |
PFAM |
low complexity region
|
212 |
224 |
N/A |
INTRINSIC |
low complexity region
|
329 |
361 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000036561
|
SMART Domains |
Protein: ENSMUSP00000042509 Gene: ENSMUSG00000032512
Domain | Start | End | E-Value | Type |
WD40
|
14 |
58 |
2.88e-1 |
SMART |
WD40
|
64 |
103 |
2.1e-7 |
SMART |
WD40
|
106 |
145 |
1.37e-6 |
SMART |
WD40
|
157 |
196 |
5.39e-5 |
SMART |
WD40
|
199 |
238 |
1.62e-8 |
SMART |
WD40
|
241 |
280 |
4.62e-4 |
SMART |
WD40
|
350 |
388 |
8.84e1 |
SMART |
low complexity region
|
460 |
471 |
N/A |
INTRINSIC |
Pfam:DUF3337
|
509 |
673 |
1.1e-49 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177637
|
SMART Domains |
Protein: ENSMUSP00000136413 Gene: ENSMUSG00000052336
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
49 |
294 |
3.5e-50 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213409
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214118
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215167
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217429
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] PHENOTYPE: Mice homozygous for a targeted disruption of this gene are viable, fertile and healthy with no detectable tissue defects. However, immortalized mutant embryonic fibroblasts show loss of cis Golgi integrity and glycosylation defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700037C18Rik |
C |
T |
16: 3,724,950 (GRCm39) |
S43N |
possibly damaging |
Het |
Abcb5 |
T |
G |
12: 118,831,681 (GRCm39) |
I1224L |
possibly damaging |
Het |
Adgra2 |
G |
A |
8: 27,611,701 (GRCm39) |
G1002S |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,203,112 (GRCm39) |
T114A |
probably damaging |
Het |
Colec12 |
T |
A |
18: 9,846,828 (GRCm39) |
S75T |
probably damaging |
Het |
Cyp2c67 |
A |
G |
19: 39,597,541 (GRCm39) |
C486R |
possibly damaging |
Het |
Ecm2 |
T |
A |
13: 49,683,765 (GRCm39) |
L581Q |
probably damaging |
Het |
Faxc |
T |
A |
4: 21,931,591 (GRCm39) |
S10T |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,482,008 (GRCm39) |
I1893T |
possibly damaging |
Het |
Gabrr3 |
T |
A |
16: 59,268,372 (GRCm39) |
D328E |
probably damaging |
Het |
Gbp7 |
A |
G |
3: 142,249,791 (GRCm39) |
I421V |
possibly damaging |
Het |
Htr6 |
A |
G |
4: 138,801,736 (GRCm39) |
S113P |
probably damaging |
Het |
Ift74 |
A |
G |
4: 94,520,951 (GRCm39) |
E168G |
probably damaging |
Het |
Kdm6b |
A |
T |
11: 69,291,952 (GRCm39) |
Y1443* |
probably null |
Het |
Mmp28 |
A |
C |
11: 83,333,543 (GRCm39) |
V466G |
possibly damaging |
Het |
Nbea |
A |
T |
3: 55,937,360 (GRCm39) |
S750R |
possibly damaging |
Het |
Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
Nelfa |
T |
C |
5: 34,057,853 (GRCm39) |
N314D |
probably benign |
Het |
Numbl |
T |
A |
7: 26,968,346 (GRCm39) |
|
probably null |
Het |
Or13c25 |
T |
A |
4: 52,911,524 (GRCm39) |
K90M |
probably damaging |
Het |
Or1j17 |
G |
A |
2: 36,578,346 (GRCm39) |
D111N |
probably damaging |
Het |
Or2p2 |
G |
T |
13: 21,257,394 (GRCm39) |
P26T |
probably damaging |
Het |
Or52e5 |
T |
C |
7: 104,719,418 (GRCm39) |
V248A |
possibly damaging |
Het |
Or5b113 |
G |
T |
19: 13,342,438 (GRCm39) |
V149F |
probably benign |
Het |
Penk |
T |
C |
4: 4,134,041 (GRCm39) |
|
probably null |
Het |
Pglyrp2 |
A |
G |
17: 32,637,936 (GRCm39) |
S31P |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,484,366 (GRCm39) |
S538P |
probably damaging |
Het |
Pld2 |
A |
G |
11: 70,433,815 (GRCm39) |
T252A |
possibly damaging |
Het |
Ppp2r5e |
T |
C |
12: 75,509,098 (GRCm39) |
I394V |
probably benign |
Het |
Sh3rf1 |
G |
T |
8: 61,816,272 (GRCm39) |
V510F |
probably damaging |
Het |
Slc4a2 |
A |
G |
5: 24,640,651 (GRCm39) |
H677R |
possibly damaging |
Het |
Stam2 |
A |
T |
2: 52,593,156 (GRCm39) |
H345Q |
probably benign |
Het |
Tmtc3 |
T |
C |
10: 100,284,835 (GRCm39) |
N600S |
probably benign |
Het |
Trappc8 |
A |
G |
18: 20,952,279 (GRCm39) |
|
probably null |
Het |
Vmn1r72 |
A |
T |
7: 11,403,595 (GRCm39) |
C284* |
probably null |
Het |
Vmn2r76 |
T |
C |
7: 85,874,743 (GRCm39) |
I745V |
probably benign |
Het |
Zfhx4 |
A |
C |
3: 5,468,392 (GRCm39) |
D2850A |
probably damaging |
Het |
Zfp764 |
A |
G |
7: 127,005,671 (GRCm39) |
W36R |
probably damaging |
Het |
Zfp804b |
G |
A |
5: 6,821,674 (GRCm39) |
T463I |
probably damaging |
Het |
Zfp811 |
T |
G |
17: 33,016,695 (GRCm39) |
K448N |
probably damaging |
Het |
|
Other mutations in Gorasp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0008:Gorasp1
|
UTSW |
9 |
119,757,312 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1782:Gorasp1
|
UTSW |
9 |
119,761,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R1873:Gorasp1
|
UTSW |
9 |
119,759,306 (GRCm39) |
missense |
probably benign |
0.23 |
R4020:Gorasp1
|
UTSW |
9 |
119,757,936 (GRCm39) |
missense |
probably benign |
0.00 |
R5356:Gorasp1
|
UTSW |
9 |
119,757,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R6059:Gorasp1
|
UTSW |
9 |
119,759,072 (GRCm39) |
missense |
probably damaging |
0.99 |
R6525:Gorasp1
|
UTSW |
9 |
119,757,061 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6798:Gorasp1
|
UTSW |
9 |
119,758,663 (GRCm39) |
missense |
probably benign |
0.02 |
R7341:Gorasp1
|
UTSW |
9 |
119,766,600 (GRCm39) |
intron |
probably benign |
|
R9113:Gorasp1
|
UTSW |
9 |
119,757,442 (GRCm39) |
missense |
probably damaging |
1.00 |
X0021:Gorasp1
|
UTSW |
9 |
119,759,037 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACACAGGATTTCTCAGACGGC -3'
(R):5'- CATGATGTTCAGCTCTGGGTTC -3'
Sequencing Primer
(F):5'- GGATTTCTCAGACGGCATCAC -3'
(R):5'- GCTCCCATATCTCCAGTAGT -3'
|
Posted On |
2014-10-02 |