Incidental Mutation 'R2438:Gga1'
ID |
249710 |
Institutional Source |
Beutler Lab
|
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 # |
R2438 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
78761390-78778785 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 78769498 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 157
(F157S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041587]
[ENSMUST00000230192]
|
AlphaFold |
Q8R0H9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041587
AA Change: F157S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000035992 Gene: ENSMUSG00000033128 AA Change: F157S
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 |
possibly damaging
Transcript: ENSMUST00000230192
AA Change: F157S
PolyPhen 2
Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230243
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230772
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap2 |
A |
G |
16: 30,936,133 (GRCm39) |
V318A |
probably damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Cd8b1 |
A |
G |
6: 71,306,740 (GRCm39) |
K156E |
probably damaging |
Het |
Ckap5 |
T |
C |
2: 91,425,753 (GRCm39) |
M1262T |
possibly damaging |
Het |
Crebbp |
A |
G |
16: 3,972,722 (GRCm39) |
M324T |
possibly damaging |
Het |
Cwf19l1 |
G |
A |
19: 44,099,002 (GRCm39) |
R523C |
probably benign |
Het |
Defb21 |
A |
T |
2: 152,416,695 (GRCm39) |
Y57F |
possibly damaging |
Het |
Ebf2 |
T |
A |
14: 67,625,391 (GRCm39) |
V233D |
probably damaging |
Het |
Gfpt1 |
A |
T |
6: 87,034,727 (GRCm39) |
E175V |
probably null |
Het |
Impdh2 |
A |
T |
9: 108,437,815 (GRCm39) |
D28V |
probably benign |
Het |
Itgav |
A |
G |
2: 83,606,886 (GRCm39) |
D409G |
probably damaging |
Het |
Krt5 |
T |
C |
15: 101,620,093 (GRCm39) |
N208S |
probably benign |
Het |
Matcap2 |
T |
C |
9: 22,342,979 (GRCm39) |
V291A |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,373,878 (GRCm39) |
I1242F |
probably damaging |
Het |
Myo1g |
A |
T |
11: 6,461,542 (GRCm39) |
N636K |
probably damaging |
Het |
Nrros |
T |
C |
16: 31,962,929 (GRCm39) |
|
probably null |
Het |
Nrros |
C |
T |
16: 31,963,117 (GRCm39) |
G264D |
probably benign |
Het |
Nsun4 |
A |
G |
4: 115,905,794 (GRCm39) |
V54A |
probably benign |
Het |
Or4k49 |
A |
T |
2: 111,495,096 (GRCm39) |
D175V |
probably damaging |
Het |
Or5b105 |
A |
T |
19: 13,079,785 (GRCm39) |
D294E |
probably benign |
Het |
Pilrb2 |
T |
A |
5: 137,869,175 (GRCm39) |
I142L |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,816,734 (GRCm39) |
S596P |
probably damaging |
Het |
Sema5a |
G |
T |
15: 32,550,399 (GRCm39) |
S146I |
possibly damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slc43a2 |
A |
T |
11: 75,453,957 (GRCm39) |
E290V |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Zfp456 |
A |
T |
13: 67,515,073 (GRCm39) |
I211N |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAACCATCTCTGTTGGAGTTC -3'
(R):5'- ATGGGTCAGTGCATTCAGCC -3'
Sequencing Primer
(F):5'- TGGAGTTCACTCACTGCAG -3'
(R):5'- AGTGCATTCAGCCGGCTC -3'
|
Posted On |
2014-11-12 |