Incidental Mutation 'IGL02697:Gga1'
ID |
303973 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gga1
|
Ensembl Gene |
ENSMUSG00000033128 |
Gene Name |
golgi associated, gamma adaptin ear containing, ARF binding protein 1 |
Synonyms |
4930406E12Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.208)
|
Stock # |
IGL02697
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
78761390-78778785 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 78769546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 173
(E173G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041587]
[ENSMUST00000230192]
|
AlphaFold |
Q8R0H9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041587
AA Change: E173G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035992 Gene: ENSMUSG00000033128 AA Change: E173G
Domain | Start | End | E-Value | Type |
VHS
|
10 |
143 |
9.89e-45 |
SMART |
Pfam:GAT
|
222 |
299 |
1.4e-27 |
PFAM |
low complexity region
|
313 |
340 |
N/A |
INTRINSIC |
low complexity region
|
366 |
378 |
N/A |
INTRINSIC |
low complexity region
|
419 |
425 |
N/A |
INTRINSIC |
low complexity region
|
459 |
470 |
N/A |
INTRINSIC |
low complexity region
|
474 |
489 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
503 |
627 |
4.21e-37 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000230192
AA Change: E173G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230243
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230772
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a gene-trapped allele display decreased birth weight, slow postnatal weight gain, hypoglycemia, increased plasma levels of acid hydrolases, and partial neonatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg2 |
A |
T |
4: 47,471,772 (GRCm39) |
N345K |
probably damaging |
Het |
Atp13a5 |
T |
A |
16: 29,167,350 (GRCm39) |
H151L |
probably benign |
Het |
C2cd3 |
T |
C |
7: 100,076,376 (GRCm39) |
|
probably benign |
Het |
Cep57l1 |
G |
T |
10: 41,598,950 (GRCm39) |
P212T |
possibly damaging |
Het |
Coch |
G |
A |
12: 51,643,821 (GRCm39) |
A135T |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cul5 |
A |
G |
9: 53,566,631 (GRCm39) |
S134P |
probably benign |
Het |
Cyp4f14 |
T |
C |
17: 33,124,597 (GRCm39) |
T485A |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,396,085 (GRCm39) |
F198S |
possibly damaging |
Het |
Dennd5a |
C |
A |
7: 109,493,988 (GRCm39) |
A1239S |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,645,607 (GRCm39) |
I822T |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,445,289 (GRCm39) |
M4142L |
probably benign |
Het |
Dyrk4 |
T |
A |
6: 126,875,971 (GRCm39) |
N88I |
possibly damaging |
Het |
Emc1 |
T |
C |
4: 139,079,955 (GRCm39) |
F9L |
probably benign |
Het |
H1f7 |
T |
C |
15: 98,155,050 (GRCm39) |
K33R |
probably benign |
Het |
Hepacam2 |
A |
T |
6: 3,476,036 (GRCm39) |
H296Q |
possibly damaging |
Het |
Ipo9 |
G |
T |
1: 135,318,314 (GRCm39) |
Q699K |
probably benign |
Het |
Jmy |
A |
T |
13: 93,596,209 (GRCm39) |
Y473* |
probably null |
Het |
Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
Kit |
A |
G |
5: 75,767,919 (GRCm39) |
S101G |
probably benign |
Het |
Krtap4-9 |
T |
A |
11: 99,676,574 (GRCm39) |
V165E |
unknown |
Het |
Lnpep |
T |
A |
17: 17,773,455 (GRCm39) |
M639L |
probably benign |
Het |
Lrp10 |
C |
T |
14: 54,707,154 (GRCm39) |
P664S |
probably damaging |
Het |
Nrde2 |
A |
T |
12: 100,097,466 (GRCm39) |
L778H |
probably damaging |
Het |
Oat |
A |
T |
7: 132,171,684 (GRCm39) |
|
probably null |
Het |
Pfkl |
A |
T |
10: 77,835,752 (GRCm39) |
S219T |
probably benign |
Het |
Phtf1 |
C |
T |
3: 103,904,879 (GRCm39) |
A509V |
probably benign |
Het |
Pigz |
T |
A |
16: 31,763,577 (GRCm39) |
|
probably null |
Het |
Pltp |
T |
A |
2: 164,682,446 (GRCm39) |
Y344F |
probably benign |
Het |
Ppp6r2 |
A |
G |
15: 89,140,958 (GRCm39) |
Y107C |
probably benign |
Het |
Ptprk |
A |
G |
10: 28,451,614 (GRCm39) |
D1034G |
possibly damaging |
Het |
Rell1 |
C |
T |
5: 64,084,354 (GRCm39) |
V221I |
probably damaging |
Het |
Skint5 |
A |
G |
4: 113,336,910 (GRCm39) |
F1429S |
probably benign |
Het |
Slc22a28 |
T |
A |
19: 8,094,491 (GRCm39) |
T177S |
probably benign |
Het |
Stxbp5 |
G |
T |
10: 9,638,700 (GRCm39) |
S1033* |
probably null |
Het |
Tgs1 |
A |
G |
4: 3,585,564 (GRCm39) |
D147G |
probably benign |
Het |
Thumpd3 |
T |
A |
6: 113,044,256 (GRCm39) |
N423K |
probably benign |
Het |
Tns3 |
G |
T |
11: 8,442,346 (GRCm39) |
D672E |
probably benign |
Het |
Vmn2r61 |
T |
A |
7: 41,924,892 (GRCm39) |
V482E |
possibly damaging |
Het |
Vmn2r72 |
G |
T |
7: 85,387,879 (GRCm39) |
Q562K |
probably benign |
Het |
Zan |
T |
C |
5: 137,398,810 (GRCm39) |
T4185A |
unknown |
Het |
|
Other mutations in Gga1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00309:Gga1
|
APN |
15 |
78,767,555 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01921:Gga1
|
APN |
15 |
78,777,995 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02178:Gga1
|
APN |
15 |
78,776,247 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02931:Gga1
|
APN |
15 |
78,777,522 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03025:Gga1
|
APN |
15 |
78,772,382 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4472001:Gga1
|
UTSW |
15 |
78,777,836 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4585001:Gga1
|
UTSW |
15 |
78,777,990 (GRCm39) |
missense |
probably benign |
0.37 |
R0838:Gga1
|
UTSW |
15 |
78,776,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R1167:Gga1
|
UTSW |
15 |
78,772,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R1620:Gga1
|
UTSW |
15 |
78,772,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R1757:Gga1
|
UTSW |
15 |
78,773,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R2128:Gga1
|
UTSW |
15 |
78,772,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R2438:Gga1
|
UTSW |
15 |
78,769,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R4050:Gga1
|
UTSW |
15 |
78,775,691 (GRCm39) |
missense |
probably benign |
0.01 |
R4199:Gga1
|
UTSW |
15 |
78,773,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R4684:Gga1
|
UTSW |
15 |
78,769,509 (GRCm39) |
missense |
probably damaging |
0.99 |
R5070:Gga1
|
UTSW |
15 |
78,776,217 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5579:Gga1
|
UTSW |
15 |
78,777,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R7340:Gga1
|
UTSW |
15 |
78,775,651 (GRCm39) |
missense |
probably benign |
0.00 |
R7657:Gga1
|
UTSW |
15 |
78,773,327 (GRCm39) |
splice site |
probably null |
|
R7864:Gga1
|
UTSW |
15 |
78,772,444 (GRCm39) |
missense |
probably damaging |
1.00 |
R9038:Gga1
|
UTSW |
15 |
78,768,321 (GRCm39) |
missense |
probably damaging |
0.97 |
R9089:Gga1
|
UTSW |
15 |
78,773,952 (GRCm39) |
missense |
probably damaging |
0.98 |
R9443:Gga1
|
UTSW |
15 |
78,765,247 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9504:Gga1
|
UTSW |
15 |
78,767,528 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Gga1
|
UTSW |
15 |
78,776,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |