Incidental Mutation 'IGL01449:Gga3'
ID |
84546 |
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: 0.734)
|
Stock # |
IGL01449
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
115475081-115494877 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 115479928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 261
(T261M)
|
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: T261M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000019135 Gene: ENSMUSG00000020740 AA Change: T261M
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 damaging
Transcript: ENSMUST00000106508
AA Change: T261M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102117 Gene: ENSMUSG00000020740 AA Change: T261M
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
|
SMART Domains |
Protein: ENSMUSP00000118024 Gene: ENSMUSG00000020740
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: T261M
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138597 Gene: ENSMUSG00000020740 AA Change: T261M
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: ENSMUST00000148782
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149814
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154832
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
T |
8: 73,198,693 (GRCm39) |
L33F |
probably benign |
Het |
Actr8 |
T |
C |
14: 29,712,927 (GRCm39) |
|
probably null |
Het |
Aldh16a1 |
C |
A |
7: 44,791,391 (GRCm39) |
A105S |
probably damaging |
Het |
Angpt2 |
T |
C |
8: 18,760,641 (GRCm39) |
T154A |
probably benign |
Het |
BC051665 |
A |
G |
13: 60,930,518 (GRCm39) |
V278A |
probably damaging |
Het |
Cap1 |
T |
C |
4: 122,753,980 (GRCm39) |
T458A |
probably damaging |
Het |
Clcn3 |
A |
T |
8: 61,387,632 (GRCm39) |
S179T |
probably damaging |
Het |
Cyp2a22 |
T |
C |
7: 26,632,978 (GRCm39) |
D408G |
probably benign |
Het |
Fam217b |
T |
A |
2: 178,062,943 (GRCm39) |
S302R |
probably damaging |
Het |
Fcho2 |
A |
T |
13: 98,926,315 (GRCm39) |
D89E |
probably benign |
Het |
Fnip1 |
C |
T |
11: 54,390,334 (GRCm39) |
R434C |
probably damaging |
Het |
Gm21985 |
T |
C |
2: 112,169,741 (GRCm39) |
F292L |
probably damaging |
Het |
Gm43638 |
A |
T |
5: 87,634,074 (GRCm39) |
S178T |
possibly damaging |
Het |
Igkv10-95 |
G |
A |
6: 68,657,748 (GRCm39) |
G68E |
probably damaging |
Het |
Katnip |
T |
A |
7: 125,469,857 (GRCm39) |
V1442D |
probably damaging |
Het |
Lpcat2 |
G |
A |
8: 93,597,775 (GRCm39) |
R180Q |
possibly damaging |
Het |
Muc6 |
C |
T |
7: 141,218,527 (GRCm39) |
A1984T |
possibly damaging |
Het |
Npy4r |
T |
A |
14: 33,868,322 (GRCm39) |
Y322F |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,962,937 (GRCm39) |
H840Q |
probably damaging |
Het |
Or7g26 |
G |
A |
9: 19,230,529 (GRCm39) |
G233D |
probably damaging |
Het |
Osbpl2 |
G |
T |
2: 179,786,987 (GRCm39) |
|
probably benign |
Het |
Pclo |
T |
A |
5: 14,728,530 (GRCm39) |
|
probably benign |
Het |
Pold4 |
T |
C |
19: 4,282,921 (GRCm39) |
|
probably benign |
Het |
Ppp1r16a |
A |
G |
15: 76,578,494 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
C |
T |
19: 46,053,671 (GRCm39) |
|
probably benign |
Het |
Prkcg |
A |
G |
7: 3,368,135 (GRCm39) |
D343G |
probably benign |
Het |
Scaf11 |
A |
C |
15: 96,317,007 (GRCm39) |
S852R |
probably benign |
Het |
Slc31a2 |
C |
T |
4: 62,210,933 (GRCm39) |
T22I |
probably damaging |
Het |
Sox30 |
T |
A |
11: 45,872,169 (GRCm39) |
D341E |
probably damaging |
Het |
Tle4 |
A |
G |
19: 14,442,704 (GRCm39) |
S339P |
probably benign |
Het |
Tsg101 |
A |
T |
7: 46,558,673 (GRCm39) |
Y78N |
probably damaging |
Het |
Ttc1 |
T |
A |
11: 43,629,630 (GRCm39) |
S179C |
probably damaging |
Het |
Txnrd3 |
T |
A |
6: 89,631,129 (GRCm39) |
S142T |
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,140,047 (GRCm39) |
A1210E |
probably damaging |
Het |
Uroc1 |
C |
A |
6: 90,315,635 (GRCm39) |
P172Q |
probably damaging |
Het |
Usp12 |
T |
C |
5: 146,691,250 (GRCm39) |
D168G |
probably benign |
Het |
Vmn1r32 |
T |
A |
6: 66,529,916 (GRCm39) |
M287L |
probably benign |
Het |
Vwa8 |
C |
T |
14: 79,420,428 (GRCm39) |
Q1710* |
probably null |
Het |
Wdfy4 |
T |
A |
14: 32,825,994 (GRCm39) |
Q1219L |
probably damaging |
Het |
Zbtb17 |
A |
G |
4: 141,190,616 (GRCm39) |
T145A |
probably benign |
Het |
Zfp697 |
T |
C |
3: 98,334,846 (GRCm39) |
C204R |
probably 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 |
IGL03343:Gga3
|
APN |
11 |
115,483,312 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2013-11-11 |