Incidental Mutation 'R1620:Gga1'
| ID |
174634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gga1
|
| Ensembl Gene |
ENSMUSG00000033128 |
| Gene Name |
golgi associated, gamma adaptin ear containing, ARF binding protein 1 |
| Synonyms |
4930406E12Rik |
| MMRRC Submission |
039657-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R1620 (G1)
|
| Quality Score |
223 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
78761390-78778785 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 78772670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 267
(S267N)
|
| 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: S267N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000035992
Gene: ENSMUSG00000033128
AA Change: S267N
| 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 |
possibly damaging
Transcript: ENSMUST00000230192
AA Change: S267N
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230243
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230772
|
| Meta Mutation Damage Score |
0.3900 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
95% (58/61) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2c2 |
T |
C |
8: 120,475,865 (GRCm39) |
V586A |
probably benign |
Het |
| Atp8a2 |
T |
A |
14: 60,028,632 (GRCm39) |
H945L |
probably benign |
Het |
| Bfar |
G |
T |
16: 13,506,710 (GRCm39) |
V187F |
probably damaging |
Het |
| Capn2 |
A |
T |
1: 182,344,702 (GRCm39) |
I73N |
probably damaging |
Het |
| Cfc1 |
C |
A |
1: 34,575,554 (GRCm39) |
A76E |
possibly damaging |
Het |
| Chl1 |
T |
C |
6: 103,667,203 (GRCm39) |
F398L |
probably benign |
Het |
| Cyp2u1 |
A |
G |
3: 131,096,350 (GRCm39) |
S143P |
probably damaging |
Het |
| Dlgap4 |
T |
A |
2: 156,591,056 (GRCm39) |
Y57* |
probably null |
Het |
| Epha4 |
T |
A |
1: 77,351,563 (GRCm39) |
R897S |
probably benign |
Het |
| Fscn2 |
A |
T |
11: 120,257,511 (GRCm39) |
T291S |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,376,850 (GRCm39) |
T1287A |
probably damaging |
Het |
| Gm10845 |
C |
A |
14: 80,100,669 (GRCm39) |
|
noncoding transcript |
Het |
| Gm11559 |
T |
A |
11: 99,755,882 (GRCm39) |
L177Q |
unknown |
Het |
| Itga9 |
A |
G |
9: 118,672,570 (GRCm39) |
T195A |
probably benign |
Het |
| Krbox5 |
T |
C |
13: 67,991,109 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,074,028 (GRCm39) |
T935A |
probably benign |
Het |
| Lrrk1 |
G |
T |
7: 66,031,286 (GRCm39) |
T4K |
probably benign |
Het |
| Lrrn1 |
G |
A |
6: 107,545,327 (GRCm39) |
C375Y |
probably damaging |
Het |
| Maip1 |
T |
C |
1: 57,449,144 (GRCm39) |
|
probably null |
Het |
| Mecom |
A |
T |
3: 30,041,237 (GRCm39) |
I119N |
probably damaging |
Het |
| Mrpl2 |
G |
A |
17: 46,958,425 (GRCm39) |
R69H |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,421,773 (GRCm39) |
V8246A |
possibly damaging |
Het |
| Myh3 |
C |
T |
11: 66,979,562 (GRCm39) |
|
probably benign |
Het |
| Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
| Myot |
A |
T |
18: 44,470,125 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,118,064 (GRCm39) |
D596G |
probably damaging |
Het |
| Npas2 |
T |
C |
1: 39,372,993 (GRCm39) |
S415P |
possibly damaging |
Het |
| Obox2 |
A |
G |
7: 15,130,966 (GRCm39) |
E66G |
probably benign |
Het |
| Or4f59 |
G |
T |
2: 111,872,591 (GRCm39) |
T262K |
probably benign |
Het |
| Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
| Phactr1 |
G |
T |
13: 43,248,373 (GRCm39) |
V356L |
probably damaging |
Het |
| Pparg |
A |
T |
6: 115,450,242 (GRCm39) |
I414L |
probably benign |
Het |
| Rapgef6 |
A |
T |
11: 54,517,420 (GRCm39) |
I371L |
possibly damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,782,543 (GRCm39) |
V674A |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,815,517 (GRCm39) |
Y159C |
probably damaging |
Het |
| Sf3b6 |
T |
C |
12: 4,876,808 (GRCm39) |
I67T |
possibly damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,915,412 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
A |
G |
17: 88,943,244 (GRCm39) |
T217A |
probably benign |
Het |
| Tank |
A |
G |
2: 61,480,442 (GRCm39) |
D326G |
possibly damaging |
Het |
| Tbc1d9 |
T |
A |
8: 83,976,224 (GRCm39) |
N594K |
probably damaging |
Het |
| Tfpi2 |
T |
A |
6: 3,965,507 (GRCm39) |
T102S |
probably benign |
Het |
| Ulk4 |
T |
G |
9: 121,033,871 (GRCm39) |
E589D |
possibly damaging |
Het |
| Usp40 |
A |
T |
1: 87,921,947 (GRCm39) |
H305Q |
probably damaging |
Het |
| Vmn1r170 |
A |
G |
7: 23,305,754 (GRCm39) |
K52R |
probably benign |
Het |
| Vmn1r194 |
A |
G |
13: 22,429,133 (GRCm39) |
D250G |
probably damaging |
Het |
| Wdr6 |
A |
T |
9: 108,451,854 (GRCm39) |
D676E |
possibly damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,179 (GRCm39) |
V1140E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGACAGAGATGGTGATGAGCC -3'
(R):5'- GCAGATAAGATGCCTGCACAGGAC -3'
Sequencing Primer
(F):5'- ctcactcccagcccacc -3'
(R):5'- TGCACAGGACCTGTTCAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation