Incidental Mutation 'R3734:Golga1'
| ID |
269987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Golga1
|
| Ensembl Gene |
ENSMUSG00000026754 |
| Gene Name |
golgin A1 |
| Synonyms |
Golgi97, golgin-97, 0710001G09Rik, awag, 2210418B03Rik |
| MMRRC Submission |
040721-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R3734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
38906167-38955553 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 38940182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 141
(Q141K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039165]
[ENSMUST00000112850]
[ENSMUST00000149810]
[ENSMUST00000184996]
|
| AlphaFold |
Q9CW79 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039165
AA Change: Q141K
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000037735
Gene: ENSMUSG00000026754
AA Change: Q141K
| 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 |
probably benign
Transcript: ENSMUST00000112850
AA Change: Q116K
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108471
Gene: ENSMUSG00000026754
AA Change: Q116K
| 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: ENSMUST00000126520
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136261
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149810
AA Change: Q85K
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000145206
Gene: ENSMUSG00000026754
AA Change: Q85K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
48 |
N/A |
INTRINSIC |
|
coiled coil region
|
70 |
183 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000153914
AA Change: Q58K
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184996
AA Change: Q141K
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139001
Gene: ENSMUSG00000026754
AA Change: Q141K
| 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 |
|
| Meta Mutation Damage Score |
0.0732 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (41/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
| Blvra |
A |
T |
2: 126,932,175 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
G |
T |
19: 4,891,951 (GRCm39) |
W814C |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,004 (GRCm39) |
V994A |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
| Eps8l2 |
A |
C |
7: 140,937,734 (GRCm39) |
Y418S |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
| Fcgr3 |
T |
C |
1: 170,885,443 (GRCm39) |
M60V |
probably benign |
Het |
| Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,902,462 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,114,175 (GRCm39) |
H910R |
probably benign |
Het |
| Jak3 |
C |
A |
8: 72,129,225 (GRCm39) |
|
probably benign |
Het |
| Jrkl |
A |
G |
9: 13,245,535 (GRCm39) |
V42A |
possibly damaging |
Het |
| Kif2c |
T |
C |
4: 117,019,843 (GRCm39) |
S515G |
probably benign |
Het |
| Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
| Lsamp |
T |
C |
16: 41,965,133 (GRCm39) |
I330T |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,975,707 (GRCm39) |
S732P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,412,774 (GRCm39) |
Q1907* |
probably null |
Het |
| Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
| Nol4 |
A |
T |
18: 22,903,921 (GRCm39) |
|
probably benign |
Het |
| Or2l13b |
T |
A |
16: 19,349,398 (GRCm39) |
I91F |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Pbld2 |
T |
C |
10: 62,907,244 (GRCm39) |
L161P |
probably damaging |
Het |
| Pcdha6 |
T |
A |
18: 37,102,454 (GRCm39) |
V549E |
probably damaging |
Het |
| Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
| Scmh1 |
T |
A |
4: 120,335,277 (GRCm39) |
I154N |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,047,350 (GRCm39) |
L879Q |
probably damaging |
Het |
| Slc1a7 |
G |
C |
4: 107,834,841 (GRCm39) |
R69P |
probably damaging |
Het |
| Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
| Tenm1 |
C |
T |
X: 41,772,944 (GRCm39) |
V1023M |
probably benign |
Het |
| Tpte |
G |
A |
8: 22,849,498 (GRCm39) |
C575Y |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,091,055 (GRCm39) |
K216E |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,251,826 (GRCm39) |
I216V |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,280 (GRCm39) |
S12P |
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 |
|
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 |
|
|
R6388:Golga1
|
UTSW |
2 |
38,913,183 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- CTGACTTTTAAGAGAATTTTGAAGTGG -3'
(R):5'- CAGGCTATACTGTGTTCTAGAATTTT -3'
Sequencing Primer
(F):5'- CAGATTTCTGAGTTCAAGGCCAGC -3'
(R):5'- GACTTTTAGGGGCAAGTTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation