Incidental Mutation 'R5046:Golga3'
| ID |
394365 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Golga3
|
| Ensembl Gene |
ENSMUSG00000029502 |
| Gene Name |
golgin A3 |
| Synonyms |
G1-499-14, repro27, Mea-2, Mea2, 5430416E01Rik |
| MMRRC Submission |
042636-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5046 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
110324723-110374336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110340806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 540
(Q540L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031477]
[ENSMUST00000112512]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031477
AA Change: Q540L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031477
Gene: ENSMUSG00000029502
AA Change: Q540L
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
24 |
49 |
7.67e-5 |
PROSPERO |
|
internal_repeat_1
|
91 |
116 |
7.67e-5 |
PROSPERO |
|
low complexity region
|
232 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
312 |
321 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
441 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
444 |
484 |
7.67e-5 |
PROSPERO |
|
low complexity region
|
534 |
548 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
587 |
624 |
7.67e-5 |
PROSPERO |
|
coiled coil region
|
656 |
1379 |
N/A |
INTRINSIC |
|
coiled coil region
|
1417 |
1453 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112512
AA Change: Q500L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000108131
Gene: ENSMUSG00000029502
AA Change: Q500L
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_2
|
3 |
24 |
9.29e-5 |
PROSPERO |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
248 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
281 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
401 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
404 |
444 |
4.91e-5 |
PROSPERO |
|
low complexity region
|
494 |
508 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
547 |
584 |
4.91e-5 |
PROSPERO |
|
low complexity region
|
705 |
717 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
809 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1117 |
N/A |
INTRINSIC |
|
low complexity region
|
1220 |
1228 |
N/A |
INTRINSIC |
|
low complexity region
|
1312 |
1330 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1333 |
1359 |
9.29e-5 |
PROSPERO |
|
coiled coil region
|
1377 |
1413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125380
|
| Meta Mutation Damage Score |
0.2031 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010]
PHENOTYPE: Males homozygous for a hypomorphic transgenic insertional mutation exhibit impaired spermatogenesis involving loss of pachytene spermatocytes and are usually sterile. Male mice homozygous for an ENU-induced mutation exhibit infertility with low sperm concentration, poor motility and abnormal shape. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
C |
A |
7: 119,302,597 (GRCm39) |
H241N |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,168,095 (GRCm39) |
A693T |
probably damaging |
Het |
| B4galnt3 |
G |
T |
6: 120,191,759 (GRCm39) |
A658D |
probably damaging |
Het |
| Car12 |
G |
A |
9: 66,653,895 (GRCm39) |
E84K |
probably benign |
Het |
| Crocc2 |
T |
A |
1: 93,133,624 (GRCm39) |
S969T |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,794,667 (GRCm39) |
V184A |
possibly damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,292,583 (GRCm39) |
C122R |
probably damaging |
Het |
| Defb30 |
T |
C |
14: 63,273,463 (GRCm39) |
E49G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,550,803 (GRCm39) |
L3161P |
probably damaging |
Het |
| Dnajc5g |
A |
G |
5: 31,267,036 (GRCm39) |
N104S |
probably benign |
Het |
| Fcgr1 |
T |
G |
3: 96,194,302 (GRCm39) |
K195T |
probably damaging |
Het |
| Gal |
C |
T |
19: 3,461,167 (GRCm39) |
R89H |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,925,316 (GRCm39) |
A577V |
probably benign |
Het |
| Gm5116 |
A |
C |
7: 32,195,379 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd1 |
T |
C |
12: 51,797,171 (GRCm39) |
E2184G |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,787,977 (GRCm39) |
D615G |
probably damaging |
Het |
| Igkv14-130 |
A |
T |
6: 67,768,465 (GRCm39) |
Y107F |
probably damaging |
Het |
| Ldlr |
T |
A |
9: 21,657,203 (GRCm39) |
|
probably null |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,389,066 (GRCm39) |
S2120T |
unknown |
Het |
| Mtfmt |
G |
T |
9: 65,346,897 (GRCm39) |
V164F |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,883,037 (GRCm39) |
V74A |
probably damaging |
Het |
| Ndufc2 |
G |
T |
7: 97,056,871 (GRCm39) |
R120L |
probably damaging |
Het |
| Neo1 |
A |
T |
9: 58,801,194 (GRCm39) |
V1156D |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,050,898 (GRCm39) |
P1065S |
possibly damaging |
Het |
| Nop9 |
A |
G |
14: 55,983,397 (GRCm39) |
H56R |
possibly damaging |
Het |
| Or4k41 |
A |
T |
2: 111,279,934 (GRCm39) |
T150S |
probably benign |
Het |
| Or6c75 |
A |
T |
10: 129,337,178 (GRCm39) |
M142L |
possibly damaging |
Het |
| Pign |
A |
T |
1: 105,449,798 (GRCm39) |
N909K |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
| Racgap1 |
G |
A |
15: 99,526,643 (GRCm39) |
R307W |
probably damaging |
Het |
| Rap1gds1 |
C |
A |
3: 138,661,181 (GRCm39) |
E399* |
probably null |
Het |
| Rwdd4a |
G |
A |
8: 47,995,837 (GRCm39) |
|
probably null |
Het |
| Sanbr |
A |
C |
11: 23,570,354 (GRCm39) |
M182R |
probably benign |
Het |
| Scp2 |
T |
C |
4: 107,928,488 (GRCm39) |
T401A |
probably benign |
Het |
| Sdha |
A |
G |
13: 74,475,452 (GRCm39) |
F526S |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,354,872 (GRCm39) |
L264Q |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,907,590 (GRCm39) |
T1466A |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,801,852 (GRCm39) |
C71Y |
probably damaging |
Het |
| Ugt2b34 |
G |
A |
5: 87,052,246 (GRCm39) |
S250L |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,650,638 (GRCm39) |
D117G |
probably benign |
Het |
| Wdr73 |
A |
T |
7: 80,542,173 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Golga3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Golga3
|
APN |
5 |
110,368,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00594:Golga3
|
APN |
5 |
110,352,841 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL00672:Golga3
|
APN |
5 |
110,360,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00821:Golga3
|
APN |
5 |
110,352,799 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL01015:Golga3
|
APN |
5 |
110,335,583 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01408:Golga3
|
APN |
5 |
110,365,675 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01651:Golga3
|
APN |
5 |
110,340,771 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02617:Golga3
|
APN |
5 |
110,336,612 (GRCm39) |
missense |
probably benign |
0.26 |
|
cles
|
UTSW |
5 |
110,336,573 (GRCm39) |
nonsense |
probably null |
|
|
tenta
|
UTSW |
5 |
110,365,996 (GRCm39) |
nonsense |
probably null |
|
|
PIT4544001:Golga3
|
UTSW |
5 |
110,336,556 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0058:Golga3
|
UTSW |
5 |
110,350,643 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0058:Golga3
|
UTSW |
5 |
110,350,643 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0591:Golga3
|
UTSW |
5 |
110,336,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1219:Golga3
|
UTSW |
5 |
110,332,215 (GRCm39) |
nonsense |
probably null |
|
|
R1297:Golga3
|
UTSW |
5 |
110,352,709 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1299:Golga3
|
UTSW |
5 |
110,352,709 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1465:Golga3
|
UTSW |
5 |
110,357,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1465:Golga3
|
UTSW |
5 |
110,357,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1589:Golga3
|
UTSW |
5 |
110,329,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Golga3
|
UTSW |
5 |
110,355,493 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1992:Golga3
|
UTSW |
5 |
110,340,839 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2116:Golga3
|
UTSW |
5 |
110,335,261 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2130:Golga3
|
UTSW |
5 |
110,350,805 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2153:Golga3
|
UTSW |
5 |
110,335,856 (GRCm39) |
splice site |
probably null |
|
|
R2158:Golga3
|
UTSW |
5 |
110,335,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2357:Golga3
|
UTSW |
5 |
110,350,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2397:Golga3
|
UTSW |
5 |
110,353,743 (GRCm39) |
splice site |
probably benign |
|
|
R2418:Golga3
|
UTSW |
5 |
110,349,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2495:Golga3
|
UTSW |
5 |
110,355,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2763:Golga3
|
UTSW |
5 |
110,352,761 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3276:Golga3
|
UTSW |
5 |
110,349,864 (GRCm39) |
splice site |
probably benign |
|
|
R3614:Golga3
|
UTSW |
5 |
110,368,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4520:Golga3
|
UTSW |
5 |
110,351,617 (GRCm39) |
nonsense |
probably null |
|
|
R5001:Golga3
|
UTSW |
5 |
110,353,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5157:Golga3
|
UTSW |
5 |
110,350,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5191:Golga3
|
UTSW |
5 |
110,332,173 (GRCm39) |
intron |
probably benign |
|
|
R5376:Golga3
|
UTSW |
5 |
110,368,811 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5399:Golga3
|
UTSW |
5 |
110,352,890 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5407:Golga3
|
UTSW |
5 |
110,349,856 (GRCm39) |
nonsense |
probably null |
|
|
R5884:Golga3
|
UTSW |
5 |
110,364,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6087:Golga3
|
UTSW |
5 |
110,352,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6526:Golga3
|
UTSW |
5 |
110,352,761 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6651:Golga3
|
UTSW |
5 |
110,365,996 (GRCm39) |
nonsense |
probably null |
|
|
R7041:Golga3
|
UTSW |
5 |
110,356,450 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7057:Golga3
|
UTSW |
5 |
110,336,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7078:Golga3
|
UTSW |
5 |
110,340,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7114:Golga3
|
UTSW |
5 |
110,350,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7190:Golga3
|
UTSW |
5 |
110,357,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7405:Golga3
|
UTSW |
5 |
110,356,312 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7528:Golga3
|
UTSW |
5 |
110,360,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7638:Golga3
|
UTSW |
5 |
110,353,694 (GRCm39) |
missense |
probably benign |
|
|
R7760:Golga3
|
UTSW |
5 |
110,353,716 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8099:Golga3
|
UTSW |
5 |
110,336,573 (GRCm39) |
nonsense |
probably null |
|
|
R8144:Golga3
|
UTSW |
5 |
110,333,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8558:Golga3
|
UTSW |
5 |
110,356,421 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8708:Golga3
|
UTSW |
5 |
110,350,721 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8887:Golga3
|
UTSW |
5 |
110,353,626 (GRCm39) |
intron |
probably benign |
|
|
R9039:Golga3
|
UTSW |
5 |
110,352,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9045:Golga3
|
UTSW |
5 |
110,340,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9057:Golga3
|
UTSW |
5 |
110,332,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Golga3
|
UTSW |
5 |
110,337,544 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9112:Golga3
|
UTSW |
5 |
110,333,757 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9198:Golga3
|
UTSW |
5 |
110,355,619 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9755:Golga3
|
UTSW |
5 |
110,340,847 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATATGGCCACTGTGCAAAAC -3'
(R):5'- CTTTGCAATGCAGGGGAAGC -3'
Sequencing Primer
(F):5'- TGTGCAAAACCAGCATCAATG -3'
(R):5'- CTGGCACTGTACCTGGATATG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation