Incidental Mutation 'IGL01680:Gga2'
| ID |
103767 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gga2
|
| Ensembl Gene |
ENSMUSG00000030872 |
| Gene Name |
golgi associated, gamma adaptin ear containing, ARF binding protein 2 |
| Synonyms |
1200007E24Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
121585945-121620421 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 121597299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 363
(D363E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115581
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033160]
[ENSMUST00000124566]
|
| AlphaFold |
Q6P5E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033160
AA Change: D363E
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000033160
Gene: ENSMUSG00000030872
AA Change: D363E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
VHS
|
29 |
162 |
2.45e-58 |
SMART |
|
Pfam:GAT
|
241 |
318 |
2.2e-20 |
PFAM |
|
low complexity region
|
320 |
338 |
N/A |
INTRINSIC |
|
Alpha_adaptinC2
|
471 |
595 |
8.68e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124566
AA Change: D363E
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000115581
Gene: ENSMUSG00000030872
AA Change: D363E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
VHS
|
29 |
162 |
2.45e-58 |
SMART |
|
Pfam:GAT
|
225 |
326 |
1.3e-30 |
PFAM |
|
Alpha_adaptinC2
|
471 |
595 |
8.68e-39 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138441
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144779
|
| 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) family. This family includes 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. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality. Mice homozygous for a different gene trapped allele show decreased birth weight, hypoglycemia and partial neonatal lethality, with all remaining mice dying within the first three weeks of life. [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 |
|---|
| Adgre1 |
T |
C |
17: 57,709,620 (GRCm39) |
W121R |
unknown |
Het |
| Adprh |
C |
T |
16: 38,270,578 (GRCm39) |
G76S |
possibly damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,423,976 (GRCm39) |
T697A |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,680,705 (GRCm39) |
M489T |
probably benign |
Het |
| Clec5a |
A |
G |
6: 40,561,314 (GRCm39) |
Y44H |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,833,426 (GRCm39) |
H950R |
probably damaging |
Het |
| Dennd10 |
A |
G |
19: 60,805,972 (GRCm39) |
T86A |
possibly damaging |
Het |
| Dgkz |
G |
T |
2: 91,766,210 (GRCm39) |
P784T |
probably benign |
Het |
| Dok1 |
T |
C |
6: 83,008,293 (GRCm39) |
D463G |
possibly damaging |
Het |
| Eif4a2 |
C |
A |
16: 22,927,941 (GRCm39) |
Q94K |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,055,956 (GRCm39) |
L1710P |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,808,988 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,372,137 (GRCm39) |
|
probably null |
Het |
| Glis2 |
T |
A |
16: 4,429,195 (GRCm39) |
F133I |
possibly damaging |
Het |
| Isg20 |
A |
G |
7: 78,566,333 (GRCm39) |
D94G |
probably damaging |
Het |
| Kif23 |
T |
C |
9: 61,839,096 (GRCm39) |
D319G |
probably benign |
Het |
| Lbr |
C |
A |
1: 181,663,759 (GRCm39) |
R87L |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,771,513 (GRCm39) |
T715A |
probably benign |
Het |
| Mapk14 |
T |
C |
17: 28,944,820 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
A |
C |
1: 59,169,226 (GRCm39) |
C341W |
probably benign |
Het |
| Mroh9 |
C |
T |
1: 162,875,551 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,322,630 (GRCm39) |
V20A |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,249 (GRCm39) |
S154P |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,436 (GRCm39) |
C171* |
probably null |
Het |
| Or7c19 |
A |
T |
8: 85,957,308 (GRCm39) |
L61F |
probably benign |
Het |
| Pofut2 |
C |
T |
10: 77,099,127 (GRCm39) |
R186W |
probably damaging |
Het |
| Ppp1r1b |
T |
A |
11: 98,241,392 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,218,218 (GRCm39) |
I166V |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,637,928 (GRCm39) |
T375A |
probably benign |
Het |
| Slitrk5 |
C |
A |
14: 111,916,432 (GRCm39) |
H19N |
probably benign |
Het |
| Sptb |
T |
A |
12: 76,677,456 (GRCm39) |
Q126L |
probably damaging |
Het |
| Stoml1 |
T |
C |
9: 58,163,996 (GRCm39) |
V105A |
probably damaging |
Het |
| Stt3b |
C |
A |
9: 115,075,329 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,913,488 (GRCm39) |
E144G |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,498,937 (GRCm39) |
Y49H |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,315,586 (GRCm39) |
W160* |
probably null |
Het |
| Zfp647 |
T |
A |
15: 76,801,968 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gga2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01519:Gga2
|
APN |
7 |
121,601,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01577:Gga2
|
APN |
7 |
121,589,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01584:Gga2
|
APN |
7 |
121,590,761 (GRCm39) |
missense |
probably benign |
|
|
IGL01671:Gga2
|
APN |
7 |
121,594,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02745:Gga2
|
APN |
7 |
121,607,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0122:Gga2
|
UTSW |
7 |
121,590,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0218:Gga2
|
UTSW |
7 |
121,598,123 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1367:Gga2
|
UTSW |
7 |
121,598,138 (GRCm39) |
nonsense |
probably null |
|
|
R1774:Gga2
|
UTSW |
7 |
121,611,444 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4127:Gga2
|
UTSW |
7 |
121,601,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Gga2
|
UTSW |
7 |
121,620,301 (GRCm39) |
missense |
unknown |
|
|
R6319:Gga2
|
UTSW |
7 |
121,601,389 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6395:Gga2
|
UTSW |
7 |
121,607,661 (GRCm39) |
splice site |
probably null |
|
|
R6486:Gga2
|
UTSW |
7 |
121,601,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Gga2
|
UTSW |
7 |
121,598,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7035:Gga2
|
UTSW |
7 |
121,588,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7320:Gga2
|
UTSW |
7 |
121,601,326 (GRCm39) |
missense |
probably benign |
|
|
R7454:Gga2
|
UTSW |
7 |
121,601,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7593:Gga2
|
UTSW |
7 |
121,589,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7602:Gga2
|
UTSW |
7 |
121,596,553 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7638:Gga2
|
UTSW |
7 |
121,603,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Gga2
|
UTSW |
7 |
121,589,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8032:Gga2
|
UTSW |
7 |
121,620,210 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8803:Gga2
|
UTSW |
7 |
121,597,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8817:Gga2
|
UTSW |
7 |
121,590,845 (GRCm39) |
nonsense |
probably null |
|
|
R9420:Gga2
|
UTSW |
7 |
121,603,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Gga2
|
UTSW |
7 |
121,611,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Gga2
|
UTSW |
7 |
121,606,494 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-01-21 |
Incidental Mutation