Incidental Mutation 'R2518:Golga4'
| ID |
254081 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Golga4
|
| Ensembl Gene |
ENSMUSG00000038708 |
| Gene Name |
golgin A4 |
| Synonyms |
golgin-245, Olp-1 |
| MMRRC Submission |
040422-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2518 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
118335335-118411587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118385680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 934
(E934G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084820]
[ENSMUST00000212097]
|
| AlphaFold |
Q91VW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084820
AA Change: E934G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081880
Gene: ENSMUSG00000038708
AA Change: E934G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
41 |
N/A |
INTRINSIC |
|
coiled coil region
|
157 |
241 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
271 |
299 |
2.93e-5 |
PROSPERO |
|
low complexity region
|
339 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
566 |
N/A |
INTRINSIC |
|
low complexity region
|
705 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
882 |
895 |
N/A |
INTRINSIC |
|
SCOP:d1epua_
|
940 |
1076 |
2e-3 |
SMART |
|
low complexity region
|
1138 |
1152 |
N/A |
INTRINSIC |
|
low complexity region
|
1161 |
1182 |
N/A |
INTRINSIC |
|
low complexity region
|
1204 |
1228 |
N/A |
INTRINSIC |
|
coiled coil region
|
1283 |
1496 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1500 |
1525 |
5.98e-5 |
PROSPERO |
|
coiled coil region
|
1541 |
1715 |
N/A |
INTRINSIC |
|
low complexity region
|
1756 |
1778 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1811 |
1839 |
2.93e-5 |
PROSPERO |
|
coiled coil region
|
1844 |
1883 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
1899 |
1924 |
5.98e-5 |
PROSPERO |
|
coiled coil region
|
1933 |
2160 |
N/A |
INTRINSIC |
|
Grip
|
2181 |
2225 |
1.38e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211840
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212097
AA Change: E906G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212183
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212913
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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 protein has been postulated to play a role in Rab6-regulated membrane-tethering events in the Golgi apparatus. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
All alleles(32) : Gene trapped(32) |
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
A |
G |
8: 25,127,157 (GRCm39) |
C480R |
probably damaging |
Het |
| Aftph |
G |
T |
11: 20,675,797 (GRCm39) |
T604K |
probably damaging |
Het |
| Bivm |
T |
C |
1: 44,168,775 (GRCm39) |
V279A |
probably damaging |
Het |
| C2cd2 |
G |
A |
16: 97,723,286 (GRCm39) |
T77I |
probably benign |
Het |
| Ccdc146 |
T |
C |
5: 21,510,526 (GRCm39) |
H527R |
probably benign |
Het |
| Cd226 |
A |
G |
18: 89,225,451 (GRCm39) |
N116S |
probably benign |
Het |
| Cit |
A |
G |
5: 116,125,105 (GRCm39) |
K1612E |
probably damaging |
Het |
| Cmtr1 |
T |
A |
17: 29,900,954 (GRCm39) |
Y663* |
probably null |
Het |
| Col3a1 |
T |
A |
1: 45,376,672 (GRCm39) |
|
probably benign |
Het |
| Copa |
A |
G |
1: 171,947,468 (GRCm39) |
N1095D |
probably benign |
Het |
| Cpne1 |
G |
T |
2: 155,915,891 (GRCm39) |
A433E |
probably damaging |
Het |
| Cyfip1 |
C |
T |
7: 55,578,032 (GRCm39) |
L1181F |
probably damaging |
Het |
| Dnajc6 |
T |
A |
4: 101,470,127 (GRCm39) |
I220N |
probably damaging |
Het |
| Duxbl1 |
G |
C |
14: 25,988,172 (GRCm39) |
|
probably benign |
Het |
| Fam135b |
C |
T |
15: 71,335,760 (GRCm39) |
R478H |
probably benign |
Het |
| Fam91a1 |
T |
A |
15: 58,322,449 (GRCm39) |
S734T |
possibly damaging |
Het |
| Fut10 |
T |
G |
8: 31,726,495 (GRCm39) |
S417A |
probably benign |
Het |
| Gm9945 |
C |
T |
11: 53,371,163 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
| Hdac5 |
A |
G |
11: 102,087,962 (GRCm39) |
V949A |
probably damaging |
Het |
| Hdgfl1 |
G |
T |
13: 26,953,732 (GRCm39) |
L114I |
probably benign |
Het |
| Ifi27l2b |
T |
A |
12: 103,422,083 (GRCm39) |
M94L |
unknown |
Het |
| Irs2 |
C |
A |
8: 11,055,352 (GRCm39) |
A1027S |
probably benign |
Het |
| Itga2 |
A |
T |
13: 115,017,578 (GRCm39) |
C111S |
probably damaging |
Het |
| Khdrbs1 |
T |
C |
4: 129,614,540 (GRCm39) |
T338A |
probably benign |
Het |
| Klk1 |
T |
C |
7: 43,870,161 (GRCm39) |
|
probably null |
Het |
| Kmt2b |
T |
C |
7: 30,275,493 (GRCm39) |
N1822S |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,830,310 (GRCm39) |
I136T |
probably benign |
Het |
| Lyar |
T |
A |
5: 38,385,276 (GRCm39) |
D105E |
probably benign |
Het |
| Mat1a |
T |
A |
14: 40,844,469 (GRCm39) |
D366E |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
| Neb |
T |
A |
2: 52,139,523 (GRCm39) |
K95* |
probably null |
Het |
| Nectin4 |
A |
G |
1: 171,207,776 (GRCm39) |
D56G |
probably benign |
Het |
| Nup58 |
A |
T |
14: 60,470,109 (GRCm39) |
F334Y |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,395 (GRCm39) |
F153I |
probably benign |
Het |
| Or9i1 |
A |
G |
19: 13,839,673 (GRCm39) |
N172S |
probably damaging |
Het |
| Pde8a |
C |
A |
7: 80,967,170 (GRCm39) |
T437K |
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,377 (GRCm39) |
N512K |
possibly damaging |
Het |
| Pramel12 |
A |
G |
4: 143,144,473 (GRCm39) |
Q273R |
possibly damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,068 (GRCm39) |
D330G |
probably damaging |
Het |
| Ren1 |
G |
A |
1: 133,287,862 (GRCm39) |
A399T |
probably damaging |
Het |
| Rnft2 |
G |
T |
5: 118,332,670 (GRCm39) |
|
probably benign |
Het |
| Septin14 |
A |
T |
5: 129,776,099 (GRCm39) |
S27T |
probably benign |
Het |
| Shld1 |
T |
A |
2: 132,592,447 (GRCm39) |
S165T |
probably damaging |
Het |
| Shox2 |
T |
C |
3: 66,885,692 (GRCm39) |
K128E |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,882,678 (GRCm39) |
W241R |
probably benign |
Het |
| Slc24a4 |
T |
A |
12: 102,188,310 (GRCm39) |
H134Q |
probably benign |
Het |
| Slc25a36 |
A |
T |
9: 96,961,124 (GRCm39) |
L165Q |
possibly damaging |
Het |
| Slc35f1 |
A |
G |
10: 52,949,630 (GRCm39) |
I240V |
probably benign |
Het |
| Slc66a1 |
A |
G |
4: 139,029,810 (GRCm39) |
F74L |
probably damaging |
Het |
| Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
| Tarbp2 |
A |
G |
15: 102,426,992 (GRCm39) |
E3G |
possibly damaging |
Het |
| Tas2r130 |
A |
T |
6: 131,607,036 (GRCm39) |
I253K |
probably damaging |
Het |
| Timm44 |
A |
C |
8: 4,316,588 (GRCm39) |
C319G |
probably null |
Het |
| Tjap1 |
A |
T |
17: 46,571,021 (GRCm39) |
N165K |
probably damaging |
Het |
| Tmem63b |
A |
G |
17: 45,977,080 (GRCm39) |
I429T |
probably benign |
Het |
| Trabd2b |
A |
T |
4: 114,457,100 (GRCm39) |
D339V |
probably damaging |
Het |
| Tst |
T |
C |
15: 78,290,033 (GRCm39) |
M1V |
probably null |
Het |
| Ube4a |
A |
T |
9: 44,859,435 (GRCm39) |
N335K |
probably benign |
Het |
| Vps54 |
C |
T |
11: 21,256,394 (GRCm39) |
T633M |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp953 |
A |
G |
13: 67,496,003 (GRCm39) |
Y13H |
probably damaging |
Het |
|
| Other mutations in Golga4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00711:Golga4
|
APN |
9 |
118,343,339 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00801:Golga4
|
APN |
9 |
118,367,994 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01395:Golga4
|
APN |
9 |
118,364,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01472:Golga4
|
APN |
9 |
118,361,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01519:Golga4
|
APN |
9 |
118,356,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01563:Golga4
|
APN |
9 |
118,356,074 (GRCm39) |
splice site |
probably benign |
|
|
IGL02593:Golga4
|
APN |
9 |
118,384,634 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02803:Golga4
|
APN |
9 |
118,364,528 (GRCm39) |
missense |
probably benign |
|
|
IGL02939:Golga4
|
APN |
9 |
118,363,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Golga4
|
APN |
9 |
118,364,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03123:Golga4
|
APN |
9 |
118,365,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03334:Golga4
|
APN |
9 |
118,366,301 (GRCm39) |
splice site |
probably benign |
|
|
F5770:Golga4
|
UTSW |
9 |
118,385,143 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
F6893:Golga4
|
UTSW |
9 |
118,382,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4382001:Golga4
|
UTSW |
9 |
118,382,521 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0179:Golga4
|
UTSW |
9 |
118,389,808 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0279:Golga4
|
UTSW |
9 |
118,398,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0362:Golga4
|
UTSW |
9 |
118,384,853 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0973:Golga4
|
UTSW |
9 |
118,366,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Golga4
|
UTSW |
9 |
118,366,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Golga4
|
UTSW |
9 |
118,366,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1128:Golga4
|
UTSW |
9 |
118,377,852 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1384:Golga4
|
UTSW |
9 |
118,394,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1435:Golga4
|
UTSW |
9 |
118,364,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1513:Golga4
|
UTSW |
9 |
118,384,800 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1818:Golga4
|
UTSW |
9 |
118,402,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2083:Golga4
|
UTSW |
9 |
118,361,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2243:Golga4
|
UTSW |
9 |
118,385,972 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2355:Golga4
|
UTSW |
9 |
118,389,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2921:Golga4
|
UTSW |
9 |
118,388,411 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2922:Golga4
|
UTSW |
9 |
118,388,411 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2923:Golga4
|
UTSW |
9 |
118,388,411 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3121:Golga4
|
UTSW |
9 |
118,386,448 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3424:Golga4
|
UTSW |
9 |
118,363,715 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3909:Golga4
|
UTSW |
9 |
118,387,804 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3913:Golga4
|
UTSW |
9 |
118,368,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4321:Golga4
|
UTSW |
9 |
118,385,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4358:Golga4
|
UTSW |
9 |
118,380,946 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4483:Golga4
|
UTSW |
9 |
118,343,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Golga4
|
UTSW |
9 |
118,388,076 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4518:Golga4
|
UTSW |
9 |
118,388,076 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4519:Golga4
|
UTSW |
9 |
118,388,076 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4545:Golga4
|
UTSW |
9 |
118,385,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4546:Golga4
|
UTSW |
9 |
118,385,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4580:Golga4
|
UTSW |
9 |
118,386,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4918:Golga4
|
UTSW |
9 |
118,387,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Golga4
|
UTSW |
9 |
118,387,368 (GRCm39) |
missense |
probably benign |
|
|
R5045:Golga4
|
UTSW |
9 |
118,394,724 (GRCm39) |
missense |
probably benign |
|
|
R5232:Golga4
|
UTSW |
9 |
118,335,626 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5256:Golga4
|
UTSW |
9 |
118,385,569 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5502:Golga4
|
UTSW |
9 |
118,388,125 (GRCm39) |
nonsense |
probably null |
|
|
R5567:Golga4
|
UTSW |
9 |
118,387,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5576:Golga4
|
UTSW |
9 |
118,382,602 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5771:Golga4
|
UTSW |
9 |
118,387,351 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5807:Golga4
|
UTSW |
9 |
118,356,198 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5860:Golga4
|
UTSW |
9 |
118,387,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Golga4
|
UTSW |
9 |
118,388,764 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6285:Golga4
|
UTSW |
9 |
118,387,695 (GRCm39) |
nonsense |
probably null |
|
|
R6299:Golga4
|
UTSW |
9 |
118,386,438 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6467:Golga4
|
UTSW |
9 |
118,365,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6552:Golga4
|
UTSW |
9 |
118,343,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6688:Golga4
|
UTSW |
9 |
118,343,278 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6965:Golga4
|
UTSW |
9 |
118,377,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6987:Golga4
|
UTSW |
9 |
118,387,600 (GRCm39) |
missense |
probably benign |
|
|
R7212:Golga4
|
UTSW |
9 |
118,365,908 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7426:Golga4
|
UTSW |
9 |
118,388,563 (GRCm39) |
missense |
probably benign |
|
|
R7431:Golga4
|
UTSW |
9 |
118,388,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7641:Golga4
|
UTSW |
9 |
118,386,643 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7727:Golga4
|
UTSW |
9 |
118,377,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7729:Golga4
|
UTSW |
9 |
118,385,131 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7811:Golga4
|
UTSW |
9 |
118,361,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Golga4
|
UTSW |
9 |
118,388,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7891:Golga4
|
UTSW |
9 |
118,385,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7976:Golga4
|
UTSW |
9 |
118,365,836 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8275:Golga4
|
UTSW |
9 |
118,361,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8378:Golga4
|
UTSW |
9 |
118,387,390 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8514:Golga4
|
UTSW |
9 |
118,384,864 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8698:Golga4
|
UTSW |
9 |
118,385,029 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8856:Golga4
|
UTSW |
9 |
118,385,779 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9227:Golga4
|
UTSW |
9 |
118,385,941 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9282:Golga4
|
UTSW |
9 |
118,385,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF022:Golga4
|
UTSW |
9 |
118,387,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7583:Golga4
|
UTSW |
9 |
118,385,143 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAGAGCTCAAGTGCAGC -3'
(R):5'- CTCTTTCTGACTAAGCTCTAGGACAG -3'
Sequencing Primer
(F):5'- AGCTCAAGTGCAGCAGCTG -3'
(R):5'- GCTCTAGGACAGTATTTTCAAGCTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation