Incidental Mutation 'IGL03343:Gga3'
ID |
417326 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gga3
|
Ensembl Gene |
ENSMUSG00000020740 |
Gene Name |
golgi associated, gamma adaptin ear containing, ARF binding protein 3 |
Synonyms |
C230037M19Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.717)
|
Stock # |
IGL03343
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115475081-115494877 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115483312 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 82
(N82K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019135]
[ENSMUST00000106508]
[ENSMUST00000125097]
[ENSMUST00000156173]
|
AlphaFold |
Q8BMI3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000019135
AA Change: N82K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000019135 Gene: ENSMUSG00000020740 AA Change: N82K
Domain | Start | End | E-Value | Type |
VHS
|
9 |
142 |
9.36e-55 |
SMART |
low complexity region
|
174 |
185 |
N/A |
INTRINSIC |
Pfam:GAT
|
222 |
299 |
1.7e-20 |
PFAM |
low complexity region
|
334 |
369 |
N/A |
INTRINSIC |
low complexity region
|
383 |
395 |
N/A |
INTRINSIC |
low complexity region
|
455 |
471 |
N/A |
INTRINSIC |
low complexity region
|
483 |
498 |
N/A |
INTRINSIC |
low complexity region
|
532 |
554 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
586 |
710 |
6.09e-43 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106508
AA Change: N82K
PolyPhen 2
Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000102117 Gene: ENSMUSG00000020740 AA Change: N82K
Domain | Start | End | E-Value | Type |
VHS
|
9 |
142 |
9.36e-55 |
SMART |
low complexity region
|
174 |
185 |
N/A |
INTRINSIC |
Pfam:GAT
|
206 |
307 |
1.3e-32 |
PFAM |
low complexity region
|
377 |
393 |
N/A |
INTRINSIC |
low complexity region
|
405 |
420 |
N/A |
INTRINSIC |
low complexity region
|
454 |
476 |
N/A |
INTRINSIC |
Alpha_adaptinC2
|
508 |
632 |
6.09e-43 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123485
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123831
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125097
AA Change: N82K
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000118024 Gene: ENSMUSG00000020740 AA Change: N82K
Domain | Start | End | E-Value | Type |
Pfam:VHS
|
3 |
106 |
3.4e-41 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132503
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156173
AA Change: N82K
PolyPhen 2
Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138597 Gene: ENSMUSG00000020740 AA Change: N82K
Domain | Start | End | E-Value | Type |
VHS
|
9 |
142 |
9.36e-55 |
SMART |
low complexity region
|
174 |
185 |
N/A |
INTRINSIC |
Pfam:GAT
|
206 |
307 |
7.3e-32 |
PFAM |
low complexity region
|
334 |
369 |
N/A |
INTRINSIC |
low complexity region
|
383 |
395 |
N/A |
INTRINSIC |
low complexity region
|
455 |
471 |
N/A |
INTRINSIC |
low complexity region
|
483 |
498 |
N/A |
INTRINSIC |
low complexity region
|
532 |
554 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136790
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154832
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148782
|
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. Multiple alternatively spliced transcript variants have been identified in this gene. [provided by RefSeq, Feb 2010] 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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts17 |
A |
G |
7: 66,725,064 (GRCm39) |
H795R |
probably damaging |
Het |
Adgrl2 |
A |
T |
3: 148,565,016 (GRCm39) |
I188K |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,431,507 (GRCm39) |
Y5974H |
probably damaging |
Het |
Angpt4 |
A |
G |
2: 151,778,623 (GRCm39) |
T336A |
probably damaging |
Het |
Arhgap30 |
C |
A |
1: 171,236,662 (GRCm39) |
T1012N |
probably damaging |
Het |
Asl |
A |
T |
5: 130,040,908 (GRCm39) |
Y178N |
probably damaging |
Het |
Brd1 |
C |
A |
15: 88,591,454 (GRCm39) |
L714F |
possibly damaging |
Het |
Ccdc47 |
A |
G |
11: 106,095,788 (GRCm39) |
S303P |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,848,420 (GRCm39) |
I858N |
probably damaging |
Het |
Cdk16 |
A |
G |
X: 20,561,998 (GRCm39) |
K264E |
probably damaging |
Het |
Cenpc1 |
A |
T |
5: 86,164,181 (GRCm39) |
F813L |
probably damaging |
Het |
Cfp |
A |
C |
X: 20,794,248 (GRCm39) |
F291C |
possibly damaging |
Het |
Chordc1 |
T |
G |
9: 18,223,762 (GRCm39) |
F276V |
probably damaging |
Het |
Clic4 |
C |
T |
4: 134,945,889 (GRCm39) |
R176H |
possibly damaging |
Het |
Fcer1a |
T |
G |
1: 173,053,040 (GRCm39) |
N52T |
possibly damaging |
Het |
Fndc7 |
A |
T |
3: 108,774,624 (GRCm39) |
C545S |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,559,674 (GRCm39) |
D1611G |
probably damaging |
Het |
Fryl |
G |
A |
5: 73,234,038 (GRCm39) |
P1496S |
probably benign |
Het |
Gm43638 |
G |
A |
5: 87,608,484 (GRCm39) |
P452S |
possibly damaging |
Het |
Gpn1 |
T |
C |
5: 31,662,309 (GRCm39) |
S244P |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,787,828 (GRCm39) |
S665G |
probably benign |
Het |
Htt |
A |
G |
5: 34,983,385 (GRCm39) |
I995V |
probably benign |
Het |
Iars1 |
A |
T |
13: 49,878,223 (GRCm39) |
I916L |
probably benign |
Het |
Ice1 |
C |
A |
13: 70,751,048 (GRCm39) |
L1679F |
probably damaging |
Het |
Inpp1 |
A |
T |
1: 52,838,486 (GRCm39) |
D54E |
probably damaging |
Het |
Irf2bpl |
T |
C |
12: 86,929,713 (GRCm39) |
E320G |
possibly damaging |
Het |
Itprid1 |
T |
G |
6: 55,945,569 (GRCm39) |
D763E |
probably damaging |
Het |
Kcnn2 |
T |
C |
18: 45,810,026 (GRCm39) |
V421A |
probably damaging |
Het |
Micu2 |
A |
G |
14: 58,154,768 (GRCm39) |
V419A |
probably benign |
Het |
Nek9 |
C |
T |
12: 85,350,383 (GRCm39) |
C897Y |
probably damaging |
Het |
Ofcc1 |
A |
C |
13: 40,226,140 (GRCm39) |
H797Q |
probably benign |
Het |
Or12d17 |
G |
A |
17: 37,777,300 (GRCm39) |
D68N |
probably damaging |
Het |
Or2y16 |
C |
A |
11: 49,335,070 (GRCm39) |
H131N |
probably damaging |
Het |
Or5m12 |
T |
C |
2: 85,735,285 (GRCm39) |
T38A |
probably benign |
Het |
Or6c69c |
T |
G |
10: 129,911,125 (GRCm39) |
L282R |
probably damaging |
Het |
Pakap |
C |
T |
4: 57,688,502 (GRCm39) |
T115M |
probably damaging |
Het |
Papss1 |
G |
A |
3: 131,288,950 (GRCm39) |
G151S |
probably benign |
Het |
Plxnb1 |
A |
G |
9: 108,943,780 (GRCm39) |
T1956A |
probably damaging |
Het |
Pomt1 |
A |
G |
2: 32,143,724 (GRCm39) |
|
probably benign |
Het |
Ppfibp2 |
T |
A |
7: 107,337,126 (GRCm39) |
Y570* |
probably null |
Het |
Ppp1r9a |
A |
G |
6: 5,046,015 (GRCm39) |
E493G |
probably damaging |
Het |
Ptk2b |
A |
G |
14: 66,406,870 (GRCm39) |
F621L |
probably benign |
Het |
Ptpn13 |
G |
T |
5: 103,702,816 (GRCm39) |
D1261Y |
possibly damaging |
Het |
Ptprd |
C |
T |
4: 75,977,966 (GRCm39) |
G181D |
probably damaging |
Het |
Rabgap1l |
T |
C |
1: 160,270,853 (GRCm39) |
T645A |
probably benign |
Het |
Slc2a7 |
T |
C |
4: 150,252,797 (GRCm39) |
I479T |
probably damaging |
Het |
Smc3 |
A |
G |
19: 53,602,273 (GRCm39) |
N40S |
probably damaging |
Het |
Spata31 |
A |
T |
13: 65,067,587 (GRCm39) |
D83V |
probably benign |
Het |
Sptb |
C |
T |
12: 76,630,330 (GRCm39) |
|
probably benign |
Het |
Ssc4d |
A |
T |
5: 135,990,028 (GRCm39) |
C493* |
probably null |
Het |
Styxl2 |
T |
C |
1: 165,927,017 (GRCm39) |
D865G |
probably benign |
Het |
Ubr2 |
C |
A |
17: 47,262,844 (GRCm39) |
V1256L |
probably benign |
Het |
Ubr3 |
T |
C |
2: 69,803,490 (GRCm39) |
|
probably benign |
Het |
Vmn2r105 |
C |
T |
17: 20,446,631 (GRCm39) |
W456* |
probably null |
Het |
Vmn2r24 |
T |
A |
6: 123,793,070 (GRCm39) |
I799N |
probably damaging |
Het |
Vps13b |
G |
A |
15: 35,917,316 (GRCm39) |
G3720D |
possibly damaging |
Het |
|
Other mutations in Gga3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00909:Gga3
|
APN |
11 |
115,482,567 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01449:Gga3
|
APN |
11 |
115,479,928 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03390:Gga3
|
APN |
11 |
115,477,820 (GRCm39) |
critical splice donor site |
probably null |
|
R0049:Gga3
|
UTSW |
11 |
115,477,915 (GRCm39) |
nonsense |
probably null |
|
R0133:Gga3
|
UTSW |
11 |
115,479,805 (GRCm39) |
splice site |
probably benign |
|
R0411:Gga3
|
UTSW |
11 |
115,478,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R0432:Gga3
|
UTSW |
11 |
115,481,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R0865:Gga3
|
UTSW |
11 |
115,483,285 (GRCm39) |
missense |
probably damaging |
1.00 |
R3852:Gga3
|
UTSW |
11 |
115,478,368 (GRCm39) |
missense |
probably benign |
0.04 |
R4869:Gga3
|
UTSW |
11 |
115,477,111 (GRCm39) |
intron |
probably benign |
|
R4878:Gga3
|
UTSW |
11 |
115,482,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R5380:Gga3
|
UTSW |
11 |
115,479,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R5527:Gga3
|
UTSW |
11 |
115,478,262 (GRCm39) |
missense |
probably damaging |
0.98 |
R6545:Gga3
|
UTSW |
11 |
115,477,995 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6805:Gga3
|
UTSW |
11 |
115,476,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R6967:Gga3
|
UTSW |
11 |
115,482,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R8311:Gga3
|
UTSW |
11 |
115,477,834 (GRCm39) |
missense |
probably benign |
0.19 |
R8670:Gga3
|
UTSW |
11 |
115,478,542 (GRCm39) |
missense |
probably benign |
0.08 |
R8837:Gga3
|
UTSW |
11 |
115,479,305 (GRCm39) |
missense |
probably benign |
|
R8852:Gga3
|
UTSW |
11 |
115,481,244 (GRCm39) |
missense |
probably benign |
0.08 |
R8860:Gga3
|
UTSW |
11 |
115,481,244 (GRCm39) |
missense |
probably benign |
0.08 |
R9587:Gga3
|
UTSW |
11 |
115,481,717 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Gga3
|
UTSW |
11 |
115,478,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |