Incidental Mutation 'R5315:Golga2'
| ID |
405780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Golga2
|
| Ensembl Gene |
ENSMUSG00000002546 |
| Gene Name |
golgin A2 |
| Synonyms |
GM130 |
| MMRRC Submission |
042898-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.875)
|
| Stock # |
R5315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32178299-32197925 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32193773 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 463
(E463G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080374
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078352]
[ENSMUST00000081670]
[ENSMUST00000091089]
[ENSMUST00000100194]
[ENSMUST00000113350]
[ENSMUST00000113352]
[ENSMUST00000113365]
[ENSMUST00000113377]
[ENSMUST00000129156]
[ENSMUST00000201433]
[ENSMUST00000129193]
[ENSMUST00000139624]
|
| AlphaFold |
Q921M4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078352
|
| SMART Domains |
Protein: ENSMUSP00000077461
Gene: ENSMUSG00000026825
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
6 |
245 |
1.38e-177 |
SMART |
|
PH
|
520 |
627 |
2.7e-10 |
SMART |
|
GED
|
654 |
745 |
9.51e-32 |
SMART |
|
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
830 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081670
AA Change: E463G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000080374
Gene: ENSMUSG00000002546
AA Change: E463G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
105 |
173 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
Pfam:GOLGA2L5
|
337 |
955 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091089
|
| SMART Domains |
Protein: ENSMUSP00000088618
Gene: ENSMUSG00000026825
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
6 |
245 |
1.38e-177 |
SMART |
|
PH
|
516 |
623 |
2.7e-10 |
SMART |
|
GED
|
650 |
741 |
9.51e-32 |
SMART |
|
low complexity region
|
743 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
815 |
826 |
N/A |
INTRINSIC |
|
low complexity region
|
845 |
860 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100194
AA Change: E533G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097768
Gene: ENSMUSG00000002546
AA Change: E533G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
113 |
N/A |
INTRINSIC |
|
coiled coil region
|
176 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
384 |
N/A |
INTRINSIC |
|
Pfam:GOLGA2L5
|
408 |
1026 |
2.1e-299 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113350
|
| SMART Domains |
Protein: ENSMUSP00000108977
Gene: ENSMUSG00000026825
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
6 |
245 |
1.38e-177 |
SMART |
|
PH
|
520 |
627 |
2.7e-10 |
SMART |
|
GED
|
654 |
745 |
9.51e-32 |
SMART |
|
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
830 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113352
|
| SMART Domains |
Protein: ENSMUSP00000108979
Gene: ENSMUSG00000026825
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
6 |
245 |
1.38e-177 |
SMART |
|
PH
|
520 |
627 |
2.7e-10 |
SMART |
|
GED
|
654 |
745 |
9.51e-32 |
SMART |
|
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
830 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113365
|
| SMART Domains |
Protein: ENSMUSP00000108992
Gene: ENSMUSG00000026825
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
6 |
245 |
1.38e-177 |
SMART |
|
PH
|
520 |
627 |
2.7e-10 |
SMART |
|
GED
|
654 |
745 |
9.51e-32 |
SMART |
|
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
851 |
861 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126276
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113377
AA Change: E506G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109004
Gene: ENSMUSG00000002546
AA Change: E506G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
86 |
N/A |
INTRINSIC |
|
coiled coil region
|
149 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
357 |
N/A |
INTRINSIC |
|
Pfam:GOLGA2L5
|
381 |
999 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149141
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129156
|
| SMART Domains |
Protein: ENSMUSP00000118914
Gene: ENSMUSG00000026825
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
1 |
96 |
2.75e-2 |
SMART |
|
GED
|
123 |
214 |
9.51e-32 |
SMART |
|
low complexity region
|
216 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
239 |
258 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201433
|
| SMART Domains |
Protein: ENSMUSP00000144264
Gene: ENSMUSG00000026825
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
6 |
245 |
1.38e-177 |
SMART |
|
PH
|
520 |
627 |
2.7e-10 |
SMART |
|
GED
|
654 |
745 |
9.51e-32 |
SMART |
|
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
830 |
N/A |
INTRINSIC |
|
low complexity region
|
851 |
861 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129193
|
| SMART Domains |
Protein: ENSMUSP00000115003
Gene: ENSMUSG00000002546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
57 |
72 |
N/A |
INTRINSIC |
|
coiled coil region
|
136 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
coiled coil region
|
226 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147707
|
| SMART Domains |
Protein: ENSMUSP00000121886
Gene: ENSMUSG00000002546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
101 |
N/A |
INTRINSIC |
|
coiled coil region
|
165 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139624
|
| SMART Domains |
Protein: ENSMUSP00000122679
Gene: ENSMUSG00000026825
| Domain | Start | End | E-Value | Type |
|---|
|
DYNc
|
6 |
245 |
1.38e-177 |
SMART |
|
PH
|
520 |
627 |
2.7e-10 |
SMART |
|
GED
|
654 |
745 |
9.51e-32 |
SMART |
|
low complexity region
|
747 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
816 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
830 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131712
|
| SMART Domains |
Protein: ENSMUSP00000114169
Gene: ENSMUSG00000002546
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
39 |
N/A |
INTRINSIC |
|
coiled coil region
|
106 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
175 |
N/A |
INTRINSIC |
|
coiled coil region
|
196 |
331 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
| Validation Efficiency |
|
| 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 one of the golgins, a family of proteins localized to the Golgi. This encoded protein has been postulated to play roles in the stacking of Golgi cisternae and in vesicular transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,885,747 (GRCm39) |
V51A |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,382,341 (GRCm39) |
I171F |
probably benign |
Het |
| AU041133 |
T |
G |
10: 81,987,506 (GRCm39) |
Y386* |
probably null |
Het |
| Bex6 |
A |
G |
16: 32,005,311 (GRCm39) |
N40D |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,877,775 (GRCm39) |
Y1044C |
probably damaging |
Het |
| Cflar |
C |
G |
1: 58,792,961 (GRCm39) |
D442E |
probably benign |
Het |
| Dag1 |
A |
G |
9: 108,086,316 (GRCm39) |
V275A |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,365,109 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,385,241 (GRCm39) |
D420G |
probably benign |
Het |
| Gm42669 |
A |
T |
5: 107,656,103 (GRCm39) |
I1301F |
probably damaging |
Het |
| Grsf1 |
G |
A |
5: 88,821,634 (GRCm39) |
|
probably benign |
Het |
| Igkv6-15 |
A |
C |
6: 70,383,957 (GRCm39) |
V7G |
possibly damaging |
Het |
| Katnal2 |
A |
T |
18: 77,099,705 (GRCm39) |
V143D |
probably benign |
Het |
| Mepce |
A |
C |
5: 137,780,955 (GRCm39) |
I617S |
probably damaging |
Het |
| Mms19 |
C |
T |
19: 41,943,201 (GRCm39) |
R320Q |
possibly damaging |
Het |
| Nt5c2 |
T |
C |
19: 46,880,682 (GRCm39) |
Y353C |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,123,097 (GRCm39) |
L20S |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,259,996 (GRCm39) |
D1111E |
probably benign |
Het |
| Plin5 |
C |
A |
17: 56,421,066 (GRCm39) |
V200L |
probably benign |
Het |
| Rab3a |
T |
C |
8: 71,208,569 (GRCm39) |
F23L |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,383,207 (GRCm39) |
K353R |
probably benign |
Het |
| S100a7l2 |
G |
A |
3: 90,997,637 (GRCm39) |
T26M |
possibly damaging |
Het |
| Senp7 |
A |
G |
16: 56,000,889 (GRCm39) |
D887G |
probably benign |
Het |
| Sftpb |
G |
T |
6: 72,283,876 (GRCm39) |
A158S |
probably benign |
Het |
| Sh2d2a |
A |
C |
3: 87,754,976 (GRCm39) |
T23P |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,532 (GRCm39) |
L287P |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,249,080 (GRCm39) |
I233F |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,777 (GRCm39) |
Q1424R |
probably damaging |
Het |
| Tbc1d14 |
T |
C |
5: 36,664,932 (GRCm39) |
D567G |
probably damaging |
Het |
| Tmem106b |
T |
G |
6: 13,081,559 (GRCm39) |
N155K |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,377 (GRCm39) |
V735F |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,689,743 (GRCm39) |
K155R |
probably benign |
Het |
|
| Other mutations in Golga2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00531:Golga2
|
APN |
2 |
32,195,226 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01561:Golga2
|
APN |
2 |
32,186,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02396:Golga2
|
APN |
2 |
32,188,656 (GRCm39) |
splice site |
probably benign |
|
|
IGL02636:Golga2
|
APN |
2 |
32,186,735 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02712:Golga2
|
APN |
2 |
32,194,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03172:Golga2
|
APN |
2 |
32,182,168 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03193:Golga2
|
APN |
2 |
32,195,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
little
|
UTSW |
2 |
32,195,996 (GRCm39) |
nonsense |
probably null |
|
|
R0050:Golga2
|
UTSW |
2 |
32,182,139 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0050:Golga2
|
UTSW |
2 |
32,182,139 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0265:Golga2
|
UTSW |
2 |
32,194,964 (GRCm39) |
splice site |
probably null |
|
|
R0440:Golga2
|
UTSW |
2 |
32,192,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0644:Golga2
|
UTSW |
2 |
32,187,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0825:Golga2
|
UTSW |
2 |
32,194,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1179:Golga2
|
UTSW |
2 |
32,193,707 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1447:Golga2
|
UTSW |
2 |
32,187,788 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1459:Golga2
|
UTSW |
2 |
32,187,807 (GRCm39) |
splice site |
probably null |
|
|
R1517:Golga2
|
UTSW |
2 |
32,195,996 (GRCm39) |
nonsense |
probably null |
|
|
R1522:Golga2
|
UTSW |
2 |
32,192,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1599:Golga2
|
UTSW |
2 |
32,193,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1702:Golga2
|
UTSW |
2 |
32,189,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Golga2
|
UTSW |
2 |
32,192,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Golga2
|
UTSW |
2 |
32,195,482 (GRCm39) |
splice site |
probably null |
|
|
R1781:Golga2
|
UTSW |
2 |
32,196,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Golga2
|
UTSW |
2 |
32,196,477 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2484:Golga2
|
UTSW |
2 |
32,194,782 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2972:Golga2
|
UTSW |
2 |
32,195,671 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3411:Golga2
|
UTSW |
2 |
32,192,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3851:Golga2
|
UTSW |
2 |
32,195,623 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3852:Golga2
|
UTSW |
2 |
32,195,623 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4130:Golga2
|
UTSW |
2 |
32,178,178 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4783:Golga2
|
UTSW |
2 |
32,187,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Golga2
|
UTSW |
2 |
32,187,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Golga2
|
UTSW |
2 |
32,187,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4808:Golga2
|
UTSW |
2 |
32,193,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5103:Golga2
|
UTSW |
2 |
32,193,758 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5261:Golga2
|
UTSW |
2 |
32,194,166 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5508:Golga2
|
UTSW |
2 |
32,178,199 (GRCm39) |
nonsense |
probably null |
|
|
R5627:Golga2
|
UTSW |
2 |
32,196,059 (GRCm39) |
nonsense |
probably null |
|
|
R5921:Golga2
|
UTSW |
2 |
32,187,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6678:Golga2
|
UTSW |
2 |
32,189,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7365:Golga2
|
UTSW |
2 |
32,193,013 (GRCm39) |
nonsense |
probably null |
|
|
R7390:Golga2
|
UTSW |
2 |
32,178,202 (GRCm39) |
missense |
|
|
|
R7395:Golga2
|
UTSW |
2 |
32,195,599 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7555:Golga2
|
UTSW |
2 |
32,178,178 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7640:Golga2
|
UTSW |
2 |
32,196,251 (GRCm39) |
missense |
probably benign |
|
|
R8219:Golga2
|
UTSW |
2 |
32,196,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8554:Golga2
|
UTSW |
2 |
32,183,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9071:Golga2
|
UTSW |
2 |
32,178,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9127:Golga2
|
UTSW |
2 |
32,196,079 (GRCm39) |
missense |
|
|
|
R9214:Golga2
|
UTSW |
2 |
32,195,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9537:Golga2
|
UTSW |
2 |
32,178,313 (GRCm39) |
unclassified |
probably benign |
|
|
R9643:Golga2
|
UTSW |
2 |
32,193,874 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9716:Golga2
|
UTSW |
2 |
32,189,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTACTTCCTTTCTCAGAGGAG -3'
(R):5'- GGGTTACATTCCCTGTGAGC -3'
Sequencing Primer
(F):5'- TTTCTCAGAGGAGCCACCG -3'
(R):5'- TTACATTCCCTGTGAGCAAGGAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation