Incidental Mutation 'R6388:Golga1'
| ID |
515624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Golga1
|
| Ensembl Gene |
ENSMUSG00000026754 |
| Gene Name |
golgin A1 |
| Synonyms |
Golgi97, golgin-97, 0710001G09Rik, awag, 2210418B03Rik |
| MMRRC Submission |
044537-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R6388 (G1)
|
| Quality Score |
175.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
38906167-38955553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38913183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 543
(D543G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108471
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039165]
[ENSMUST00000112850]
[ENSMUST00000184996]
|
| AlphaFold |
Q9CW79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039165
AA Change: D568G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754
AA Change: D568G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
51 |
104 |
N/A |
INTRINSIC |
|
coiled coil region
|
126 |
169 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
555 |
N/A |
INTRINSIC |
|
coiled coil region
|
599 |
647 |
N/A |
INTRINSIC |
|
Grip
|
682 |
728 |
5.68e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083193
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112850
AA Change: D543G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754
AA Change: D543G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
53 |
144 |
N/A |
INTRINSIC |
|
coiled coil region
|
165 |
530 |
N/A |
INTRINSIC |
|
coiled coil region
|
574 |
622 |
N/A |
INTRINSIC |
|
Grip
|
657 |
703 |
5.68e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149842
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153914
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184996
AA Change: D568G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754
AA Change: D568G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
51 |
104 |
N/A |
INTRINSIC |
|
coiled coil region
|
126 |
169 |
N/A |
INTRINSIC |
|
coiled coil region
|
190 |
555 |
N/A |
INTRINSIC |
|
coiled coil region
|
599 |
647 |
N/A |
INTRINSIC |
|
Grip
|
682 |
728 |
5.68e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204127
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154210
|
| Meta Mutation Damage Score |
0.1070 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
100% (35/35) |
| 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 is associated with Sjogren's syndrome. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous mice exhibit tremors and limb grasping behavior at two months of age. A variable severity of hearing loss was also seen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
T |
13: 77,410,230 (GRCm39) |
R560W |
probably benign |
Het |
| Abi3 |
A |
G |
11: 95,724,464 (GRCm39) |
|
probably null |
Het |
| Ap1b1 |
T |
C |
11: 4,976,319 (GRCm39) |
I449T |
probably damaging |
Het |
| Atpaf2 |
C |
A |
11: 60,307,833 (GRCm39) |
|
probably benign |
Het |
| Car5a |
T |
C |
8: 122,653,910 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,349,214 (GRCm39) |
D1002G |
possibly damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,396 (GRCm39) |
C142* |
probably null |
Het |
| Clec14a |
A |
G |
12: 58,314,243 (GRCm39) |
*460R |
probably null |
Het |
| Defb30 |
T |
A |
14: 63,287,213 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,906,710 (GRCm39) |
K4247R |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,058,081 (GRCm39) |
A128T |
unknown |
Het |
| Fam3b |
T |
C |
16: 97,279,591 (GRCm39) |
T113A |
probably benign |
Het |
| Fam98c |
C |
T |
7: 28,854,728 (GRCm39) |
R126Q |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,738,319 (GRCm39) |
L623F |
probably damaging |
Het |
| Gpatch8 |
A |
T |
11: 102,369,314 (GRCm39) |
V1408E |
probably damaging |
Het |
| Icosl |
T |
A |
10: 77,905,366 (GRCm39) |
L3Q |
possibly damaging |
Homo |
| Igf2r |
A |
G |
17: 12,902,787 (GRCm39) |
V2421A |
probably benign |
Het |
| Iglon5 |
T |
C |
7: 43,127,556 (GRCm39) |
T165A |
possibly damaging |
Het |
| Map3k11 |
A |
G |
19: 5,740,279 (GRCm39) |
E2G |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,330,268 (GRCm39) |
C2386S |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,052,501 (GRCm39) |
E837G |
possibly damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,174,145 (GRCm39) |
E720G |
probably damaging |
Het |
| Or1e35 |
A |
G |
11: 73,798,118 (GRCm39) |
S67P |
probably damaging |
Het |
| Pla1a |
T |
A |
16: 38,217,834 (GRCm39) |
M385L |
probably benign |
Het |
| Saxo4 |
A |
G |
19: 10,459,665 (GRCm39) |
V14A |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,662,146 (GRCm39) |
T82A |
probably benign |
Het |
| Smarcd3 |
A |
G |
5: 24,801,024 (GRCm39) |
F128L |
possibly damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Syvn1 |
T |
A |
19: 6,102,381 (GRCm39) |
V483E |
probably damaging |
Het |
| Timm22 |
G |
A |
11: 76,297,945 (GRCm39) |
V19I |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,621,189 (GRCm39) |
D15716Y |
probably damaging |
Het |
| Ube3a |
C |
T |
7: 58,954,669 (GRCm39) |
|
probably null |
Het |
| Ugp2 |
A |
G |
11: 21,272,051 (GRCm39) |
|
probably null |
Het |
| Vmn1r13 |
T |
A |
6: 57,186,903 (GRCm39) |
F21I |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,882,144 (GRCm39) |
S1150G |
probably benign |
Het |
| Zp3 |
T |
C |
5: 136,011,548 (GRCm39) |
V122A |
probably benign |
Het |
|
| Other mutations in Golga1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00806:Golga1
|
APN |
2 |
38,942,985 (GRCm39) |
nonsense |
probably null |
|
|
IGL00949:Golga1
|
APN |
2 |
38,931,267 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01133:Golga1
|
APN |
2 |
38,913,484 (GRCm39) |
missense |
probably benign |
|
|
IGL01592:Golga1
|
APN |
2 |
38,953,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01613:Golga1
|
APN |
2 |
38,910,138 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01819:Golga1
|
APN |
2 |
38,924,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01871:Golga1
|
APN |
2 |
38,940,210 (GRCm39) |
splice site |
probably benign |
|
|
IGL02744:Golga1
|
APN |
2 |
38,908,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02819:Golga1
|
APN |
2 |
38,929,090 (GRCm39) |
missense |
probably null |
0.97 |
|
IGL02874:Golga1
|
APN |
2 |
38,929,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0167:Golga1
|
UTSW |
2 |
38,937,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0245:Golga1
|
UTSW |
2 |
38,925,271 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0389:Golga1
|
UTSW |
2 |
38,908,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0443:Golga1
|
UTSW |
2 |
38,908,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0906:Golga1
|
UTSW |
2 |
38,937,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1508:Golga1
|
UTSW |
2 |
38,913,261 (GRCm39) |
missense |
probably benign |
|
|
R1901:Golga1
|
UTSW |
2 |
38,937,792 (GRCm39) |
splice site |
probably null |
|
|
R1964:Golga1
|
UTSW |
2 |
38,937,099 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2228:Golga1
|
UTSW |
2 |
38,913,183 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3734:Golga1
|
UTSW |
2 |
38,940,182 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4407:Golga1
|
UTSW |
2 |
38,909,653 (GRCm39) |
splice site |
probably null |
|
|
R4504:Golga1
|
UTSW |
2 |
38,913,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4973:Golga1
|
UTSW |
2 |
38,929,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5049:Golga1
|
UTSW |
2 |
38,937,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5600:Golga1
|
UTSW |
2 |
38,910,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6008:Golga1
|
UTSW |
2 |
38,937,099 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6374:Golga1
|
UTSW |
2 |
38,924,080 (GRCm39) |
missense |
probably benign |
|
|
R6601:Golga1
|
UTSW |
2 |
38,910,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7067:Golga1
|
UTSW |
2 |
38,937,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7816:Golga1
|
UTSW |
2 |
38,942,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9277:Golga1
|
UTSW |
2 |
38,914,255 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9581:Golga1
|
UTSW |
2 |
38,909,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Golga1
|
UTSW |
2 |
38,942,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCAGGCAAACTACTGAC -3'
(R):5'- ATTAGTGAGCCAGCCTGTCAC -3'
Sequencing Primer
(F):5'- GCCAGGCAAACTACTGACTTTTGG -3'
(R):5'- CTGTCACAAAGCAGTGTGCAGTC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation