Incidental Mutation 'IGL01921:Gga1'
ID |
180100 |
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 # |
IGL01921
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
78761390-78778785 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78777995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 620
(M620T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041587]
[ENSMUST00000230192]
|
AlphaFold |
Q8R0H9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041587
AA Change: M620T
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000035992 Gene: ENSMUSG00000033128 AA Change: M620T
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 |
noncoding transcript
Transcript: ENSMUST00000183370
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229353
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230192
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
C |
A |
8: 44,078,548 (GRCm39) |
V559L |
probably damaging |
Het |
Agtpbp1 |
T |
C |
13: 59,660,297 (GRCm39) |
T310A |
possibly damaging |
Het |
Ccdc102a |
T |
C |
8: 95,640,019 (GRCm39) |
T92A |
probably damaging |
Het |
Ciao1 |
C |
T |
2: 127,084,755 (GRCm39) |
V328I |
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,557,299 (GRCm39) |
Q1943L |
possibly damaging |
Het |
Diaph1 |
T |
C |
18: 37,989,261 (GRCm39) |
D898G |
possibly damaging |
Het |
Dio3 |
A |
T |
12: 110,245,789 (GRCm39) |
T42S |
possibly damaging |
Het |
Dnah8 |
T |
A |
17: 30,955,115 (GRCm39) |
I2048N |
probably benign |
Het |
Egr2 |
T |
A |
10: 67,376,208 (GRCm39) |
|
probably null |
Het |
Epc2 |
T |
A |
2: 49,422,209 (GRCm39) |
Y368N |
probably damaging |
Het |
Furin |
A |
G |
7: 80,045,702 (GRCm39) |
|
probably benign |
Het |
Gm21976 |
T |
A |
13: 98,441,829 (GRCm39) |
Y45* |
probably null |
Het |
Gpn1 |
T |
C |
5: 31,656,612 (GRCm39) |
V105A |
probably damaging |
Het |
Hoxb8 |
A |
T |
11: 96,175,181 (GRCm39) |
N206I |
probably damaging |
Het |
Kif15 |
T |
A |
9: 122,808,569 (GRCm39) |
L67Q |
probably damaging |
Het |
Krt40 |
T |
A |
11: 99,433,989 (GRCm39) |
|
probably benign |
Het |
Mat1a |
T |
C |
14: 40,836,292 (GRCm39) |
|
probably benign |
Het |
Mkrn1 |
T |
C |
6: 39,382,847 (GRCm39) |
D99G |
possibly damaging |
Het |
Plxnb2 |
T |
C |
15: 89,048,474 (GRCm39) |
Y645C |
possibly damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,799,671 (GRCm39) |
V702A |
probably benign |
Het |
Ppp4r4 |
G |
T |
12: 103,542,569 (GRCm39) |
M1I |
probably null |
Het |
Prss21 |
T |
A |
17: 24,091,414 (GRCm39) |
M217K |
possibly damaging |
Het |
R3hcc1l |
A |
G |
19: 42,552,220 (GRCm39) |
S406G |
possibly damaging |
Het |
Rfesd |
T |
C |
13: 76,156,385 (GRCm39) |
E7G |
probably benign |
Het |
Ripk4 |
T |
C |
16: 97,544,565 (GRCm39) |
E694G |
possibly damaging |
Het |
Rlf |
T |
C |
4: 121,003,943 (GRCm39) |
D1679G |
probably damaging |
Het |
Ryr2 |
C |
T |
13: 11,569,436 (GRCm39) |
C4956Y |
possibly damaging |
Het |
Scart1 |
G |
T |
7: 139,808,632 (GRCm39) |
E848* |
probably null |
Het |
Uri1 |
T |
A |
7: 37,681,072 (GRCm39) |
K111* |
probably null |
Het |
Usf1 |
A |
G |
1: 171,244,424 (GRCm39) |
E108G |
possibly damaging |
Het |
Vmn1r71 |
C |
A |
7: 10,482,199 (GRCm39) |
R163L |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r86 |
T |
C |
10: 130,291,610 (GRCm39) |
T52A |
probably benign |
Het |
Washc5 |
A |
T |
15: 59,213,958 (GRCm39) |
|
probably null |
Het |
Zfp583 |
T |
C |
7: 6,328,569 (GRCm39) |
T7A |
possibly damaging |
Het |
Zim1 |
T |
G |
7: 6,685,184 (GRCm39) |
|
probably benign |
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 |
IGL02178:Gga1
|
APN |
15 |
78,776,247 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02697:Gga1
|
APN |
15 |
78,769,546 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-05-07 |