Incidental Mutation 'R2310:Golga5'
| ID |
244753 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Golga5
|
| Ensembl Gene |
ENSMUSG00000021192 |
| Gene Name |
golgin A5 |
| Synonyms |
Ret-II |
| MMRRC Submission |
040309-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2310 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
102435394-102464166 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102458420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 621
(E621G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021609]
[ENSMUST00000179218]
|
| AlphaFold |
Q9QYE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021609
AA Change: E621G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000021609
Gene: ENSMUSG00000021192
AA Change: E621G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
148 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
213 |
N/A |
INTRINSIC |
|
Pfam:Golgin_A5
|
233 |
709 |
1.1e-172 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179218
AA Change: E621G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137305
Gene: ENSMUSG00000021192
AA Change: E621G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
148 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
193 |
213 |
N/A |
INTRINSIC |
|
Pfam:Golgin_A5
|
233 |
709 |
1.1e-172 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222744
AA Change: E165G
|
| Meta Mutation Damage Score |
0.2219 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (39/39) |
| 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 is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous knockout does not result in an obvious phenotype and does not affect Golgi apparatus morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10l |
A |
C |
4: 140,320,429 (GRCm39) |
C136W |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,624,988 (GRCm39) |
H1625Q |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,081,826 (GRCm39) |
T451A |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Efhd1 |
T |
C |
1: 87,192,350 (GRCm39) |
L60P |
probably damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,864 (GRCm39) |
T401A |
probably benign |
Het |
| Frmd4a |
GAA |
G |
2: 4,577,210 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
A |
G |
11: 83,318,265 (GRCm39) |
V148A |
possibly damaging |
Het |
| Gsap |
A |
T |
5: 21,401,088 (GRCm39) |
R74* |
probably null |
Het |
| Intu |
C |
T |
3: 40,608,243 (GRCm39) |
A85V |
probably benign |
Het |
| Kansl3 |
T |
A |
1: 36,382,445 (GRCm39) |
I860F |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,426 (GRCm39) |
S715P |
probably damaging |
Het |
| Map3k8 |
A |
T |
18: 4,349,001 (GRCm39) |
C106S |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,564,433 (GRCm39) |
E934G |
probably damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,054 (GRCm39) |
|
probably null |
Het |
| Msl3l2 |
C |
A |
10: 55,991,421 (GRCm39) |
R49S |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,444 (GRCm39) |
I2410F |
possibly damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,836 (GRCm38) |
V82A |
probably benign |
Het |
| Or4a73 |
A |
G |
2: 89,420,794 (GRCm39) |
S222P |
probably damaging |
Het |
| Pip5k1c |
T |
G |
10: 81,142,142 (GRCm39) |
S117R |
probably damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,690,841 (GRCm39) |
S561P |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,475 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
A |
T |
1: 131,172,477 (GRCm39) |
W131R |
probably damaging |
Het |
| Shq1 |
C |
T |
6: 100,607,963 (GRCm39) |
W316* |
probably null |
Het |
| Slc45a4 |
A |
G |
15: 73,461,409 (GRCm39) |
Y87H |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,768,963 (GRCm39) |
D32G |
probably benign |
Het |
| Tjp1 |
C |
T |
7: 64,979,490 (GRCm39) |
R345Q |
possibly damaging |
Het |
| Tnrc18 |
C |
G |
5: 142,774,308 (GRCm39) |
V174L |
probably damaging |
Het |
| Trmt6 |
G |
T |
2: 132,650,832 (GRCm39) |
P259T |
probably damaging |
Het |
| Ubap1 |
T |
A |
4: 41,379,341 (GRCm39) |
V185E |
possibly damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,204,053 (GRCm39) |
T1979A |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,356,591 (GRCm39) |
D3784G |
probably benign |
Het |
| Zfp119a |
A |
T |
17: 56,172,440 (GRCm39) |
Y468N |
probably benign |
Het |
|
| Other mutations in Golga5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01104:Golga5
|
APN |
12 |
102,460,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01487:Golga5
|
APN |
12 |
102,461,955 (GRCm39) |
intron |
probably benign |
|
|
IGL01585:Golga5
|
APN |
12 |
102,445,954 (GRCm39) |
missense |
probably benign |
|
|
IGL01901:Golga5
|
APN |
12 |
102,446,061 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02063:Golga5
|
APN |
12 |
102,438,418 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02118:Golga5
|
APN |
12 |
102,462,011 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02568:Golga5
|
APN |
12 |
102,438,338 (GRCm39) |
missense |
probably benign |
0.33 |
|
golgotha
|
UTSW |
12 |
102,450,835 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB007:Golga5
|
UTSW |
12 |
102,450,681 (GRCm39) |
missense |
probably benign |
0.31 |
|
BB017:Golga5
|
UTSW |
12 |
102,450,681 (GRCm39) |
missense |
probably benign |
0.31 |
|
FR4976:Golga5
|
UTSW |
12 |
102,441,919 (GRCm39) |
splice site |
probably null |
|
|
R0244:Golga5
|
UTSW |
12 |
102,442,447 (GRCm39) |
missense |
probably benign |
|
|
R0432:Golga5
|
UTSW |
12 |
102,442,467 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0552:Golga5
|
UTSW |
12 |
102,450,752 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0659:Golga5
|
UTSW |
12 |
102,442,467 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1244:Golga5
|
UTSW |
12 |
102,438,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1542:Golga5
|
UTSW |
12 |
102,440,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Golga5
|
UTSW |
12 |
102,458,390 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5110:Golga5
|
UTSW |
12 |
102,438,336 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5704:Golga5
|
UTSW |
12 |
102,455,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6228:Golga5
|
UTSW |
12 |
102,450,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6229:Golga5
|
UTSW |
12 |
102,450,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6241:Golga5
|
UTSW |
12 |
102,438,732 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7236:Golga5
|
UTSW |
12 |
102,441,034 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7355:Golga5
|
UTSW |
12 |
102,438,494 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7404:Golga5
|
UTSW |
12 |
102,450,778 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7493:Golga5
|
UTSW |
12 |
102,450,835 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7930:Golga5
|
UTSW |
12 |
102,450,681 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8062:Golga5
|
UTSW |
12 |
102,450,739 (GRCm39) |
missense |
probably benign |
|
|
R8231:Golga5
|
UTSW |
12 |
102,438,558 (GRCm39) |
missense |
probably benign |
|
|
R8765:Golga5
|
UTSW |
12 |
102,445,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9083:Golga5
|
UTSW |
12 |
102,458,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9085:Golga5
|
UTSW |
12 |
102,458,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9086:Golga5
|
UTSW |
12 |
102,458,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9301:Golga5
|
UTSW |
12 |
102,443,057 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9655:Golga5
|
UTSW |
12 |
102,446,008 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Z1177:Golga5
|
UTSW |
12 |
102,438,264 (GRCm39) |
start gained |
probably benign |
|
|
Z1187:Golga5
|
UTSW |
12 |
102,440,853 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAAGGACCCAATTCATGAC -3'
(R):5'- TTACACTGGAAGAAGAAGCACC -3'
Sequencing Primer
(F):5'- AGAGCCTGTGTACTGATTCAGTGAAC -3'
(R):5'- GAAGCACCAGAGAAAGTTTCTTTTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation