Incidental Mutation 'IGL01577:Gga2'
ID |
91300 |
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 # |
IGL01577
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
121585945-121620421 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 121589006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 574
(Y574H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115581
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033160]
[ENSMUST00000124566]
|
AlphaFold |
Q6P5E6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033160
AA Change: Y574H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000033160 Gene: ENSMUSG00000030872 AA Change: Y574H
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 damaging
Transcript: ENSMUST00000124566
AA Change: Y574H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115581 Gene: ENSMUSG00000030872 AA Change: Y574H
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: ENSMUST00000144779
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206578
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
G |
14: 29,709,232 (GRCm39) |
T279A |
probably benign |
Het |
Adamts9 |
T |
G |
6: 92,835,128 (GRCm39) |
|
probably benign |
Het |
Apba3 |
G |
A |
10: 81,108,053 (GRCm39) |
G403D |
probably damaging |
Het |
Atp13a4 |
C |
T |
16: 29,260,102 (GRCm39) |
V235I |
possibly damaging |
Het |
Brca2 |
T |
A |
5: 150,465,085 (GRCm39) |
C1616* |
probably null |
Het |
Ccdc7a |
T |
A |
8: 129,715,244 (GRCm39) |
E280V |
probably damaging |
Het |
Cdc42bpb |
A |
G |
12: 111,268,477 (GRCm39) |
I1241T |
possibly damaging |
Het |
Cplx4 |
G |
T |
18: 66,103,015 (GRCm39) |
A35E |
probably damaging |
Het |
Cyp2j8 |
T |
G |
4: 96,367,308 (GRCm39) |
D270A |
probably damaging |
Het |
Cyp7a1 |
T |
C |
4: 6,273,618 (GRCm39) |
D96G |
probably damaging |
Het |
Ddx11 |
G |
A |
17: 66,446,398 (GRCm39) |
R429H |
possibly damaging |
Het |
Depdc5 |
C |
A |
5: 33,113,241 (GRCm39) |
T419N |
possibly damaging |
Het |
Diaph3 |
A |
C |
14: 87,143,467 (GRCm39) |
I737R |
probably damaging |
Het |
Elf2 |
C |
T |
3: 51,163,773 (GRCm39) |
|
probably benign |
Het |
Epha6 |
T |
A |
16: 59,777,289 (GRCm39) |
I673L |
possibly damaging |
Het |
Ephx1 |
A |
G |
1: 180,829,545 (GRCm39) |
M1T |
probably null |
Het |
Fndc3a |
A |
T |
14: 72,827,298 (GRCm39) |
M84K |
probably damaging |
Het |
Gad2 |
T |
C |
2: 22,571,292 (GRCm39) |
|
probably benign |
Het |
Gba2 |
G |
A |
4: 43,573,753 (GRCm39) |
Q180* |
probably null |
Het |
Gm7168 |
A |
T |
17: 14,169,649 (GRCm39) |
R339W |
probably damaging |
Het |
Hdac10 |
T |
C |
15: 89,010,416 (GRCm39) |
E302G |
possibly damaging |
Het |
Ighv1-72 |
A |
G |
12: 115,721,893 (GRCm39) |
V21A |
possibly damaging |
Het |
Kif15 |
A |
G |
9: 122,825,399 (GRCm39) |
E774G |
probably benign |
Het |
Lig3 |
A |
G |
11: 82,674,303 (GRCm39) |
N43S |
probably benign |
Het |
Nmnat1 |
T |
A |
4: 149,554,135 (GRCm39) |
D135V |
possibly damaging |
Het |
Or1s2 |
A |
G |
19: 13,758,162 (GRCm39) |
Y62C |
probably damaging |
Het |
Or52n2 |
A |
G |
7: 104,542,730 (GRCm39) |
F35S |
probably benign |
Het |
Pak6 |
A |
C |
2: 118,524,129 (GRCm39) |
K428T |
probably benign |
Het |
Pou2f3 |
G |
A |
9: 43,058,178 (GRCm39) |
Q56* |
probably null |
Het |
Prep |
T |
C |
10: 44,948,144 (GRCm39) |
|
probably benign |
Het |
Psd4 |
C |
T |
2: 24,293,234 (GRCm39) |
P700S |
probably damaging |
Het |
Rad18 |
A |
T |
6: 112,642,302 (GRCm39) |
|
probably benign |
Het |
Rbbp5 |
A |
G |
1: 132,420,393 (GRCm39) |
K209E |
possibly damaging |
Het |
Smurf1 |
G |
A |
5: 144,829,998 (GRCm39) |
T335I |
probably damaging |
Het |
Tbcd |
G |
A |
11: 121,387,838 (GRCm39) |
R72Q |
probably damaging |
Het |
Tsga10 |
T |
C |
1: 37,874,538 (GRCm39) |
T116A |
possibly damaging |
Het |
Unc80 |
A |
G |
1: 66,569,127 (GRCm39) |
|
probably null |
Het |
Vmn1r87 |
C |
A |
7: 12,865,775 (GRCm39) |
V171F |
probably benign |
Het |
Ythdc2 |
A |
T |
18: 44,991,349 (GRCm39) |
M786L |
probably benign |
Het |
Zmym6 |
C |
A |
4: 126,999,223 (GRCm39) |
T469K |
probably damaging |
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 |
IGL01584:Gga2
|
APN |
7 |
121,590,761 (GRCm39) |
missense |
probably benign |
|
IGL01671:Gga2
|
APN |
7 |
121,594,079 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01680:Gga2
|
APN |
7 |
121,597,299 (GRCm39) |
missense |
probably benign |
0.06 |
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 |
2013-12-09 |