Incidental Mutation 'IGL03390:Gga3'
| ID |
421045 |
| 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 # |
IGL03390
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
115475081-115494877 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 115477820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102117
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019135]
[ENSMUST00000021085]
[ENSMUST00000106508]
[ENSMUST00000125097]
[ENSMUST00000156173]
[ENSMUST00000140986]
|
| AlphaFold |
Q8BMI3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019135
|
| SMART Domains |
Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740
| 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: ENSMUST00000021085
|
| SMART Domains |
Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nucleopor_Nup85
|
53 |
606 |
1.2e-181 |
PFAM |
|
low complexity region
|
635 |
649 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106508
|
| SMART Domains |
Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740
| 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: ENSMUST00000127126
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156173
|
| SMART Domains |
Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740
| 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: ENSMUST00000128437
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154832
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136790
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140986
|
| SMART Domains |
Protein: ENSMUSP00000117333
Gene: ENSMUSG00000020739
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nucleopor_Nup85
|
21 |
280 |
5.9e-107 |
PFAM |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
A |
G |
8: 125,566,564 (GRCm39) |
|
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,359,997 (GRCm39) |
Y1127C |
probably damaging |
Het |
| Cdnf |
T |
A |
2: 3,524,863 (GRCm39) |
L134* |
probably null |
Het |
| Col11a1 |
A |
G |
3: 113,883,902 (GRCm39) |
D257G |
unknown |
Het |
| Cthrc1 |
T |
A |
15: 38,940,529 (GRCm39) |
I44N |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,952,288 (GRCm39) |
Y545H |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,885,069 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
A |
G |
14: 67,661,558 (GRCm39) |
N562S |
probably benign |
Het |
| Fem1b |
G |
A |
9: 62,704,246 (GRCm39) |
A338V |
probably benign |
Het |
| Gm7247 |
A |
T |
14: 51,760,914 (GRCm39) |
H161L |
probably benign |
Het |
| Gm7367 |
A |
G |
7: 59,805,517 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp5a |
T |
G |
7: 139,105,664 (GRCm39) |
V213G |
probably benign |
Het |
| Kcns3 |
T |
C |
12: 11,141,233 (GRCm39) |
T489A |
probably benign |
Het |
| Kifc3 |
G |
A |
8: 95,835,241 (GRCm39) |
A211V |
probably damaging |
Het |
| Krt71 |
T |
C |
15: 101,642,987 (GRCm39) |
D507G |
possibly damaging |
Het |
| Lama5 |
T |
C |
2: 179,849,011 (GRCm39) |
Y224C |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,386,857 (GRCm39) |
L2421P |
unknown |
Het |
| Mtch2 |
C |
T |
2: 90,689,894 (GRCm39) |
T205I |
probably benign |
Het |
| Or1o11 |
T |
C |
17: 37,757,255 (GRCm39) |
V281A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,488,490 (GRCm39) |
C537* |
probably null |
Het |
| Prl2a1 |
T |
C |
13: 27,985,699 (GRCm39) |
V5A |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,787,192 (GRCm39) |
Y354C |
probably benign |
Het |
| Rimklb |
C |
T |
6: 122,433,280 (GRCm39) |
S347N |
possibly damaging |
Het |
| Rnase2a |
T |
C |
14: 51,492,945 (GRCm39) |
D140G |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,787,302 (GRCm39) |
P1017S |
probably benign |
Het |
| Slc3a1 |
A |
G |
17: 85,340,205 (GRCm39) |
D209G |
probably damaging |
Het |
| Sntn |
T |
A |
14: 13,682,205 (GRCm38) |
|
probably benign |
Het |
| Tal2 |
G |
T |
4: 53,785,994 (GRCm39) |
L58F |
probably damaging |
Het |
| Trim39 |
T |
C |
17: 36,571,463 (GRCm39) |
K432E |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,329,501 (GRCm39) |
M219K |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,767 (GRCm39) |
I311L |
possibly damaging |
Het |
| Wfdc17 |
A |
T |
11: 83,595,611 (GRCm39) |
|
probably benign |
Het |
| Zbtb6 |
T |
G |
2: 37,319,584 (GRCm39) |
I115L |
probably damaging |
Het |
| Zfp750 |
A |
T |
11: 121,402,770 (GRCm39) |
C659* |
probably null |
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 |
|
IGL03343:Gga3
|
APN |
11 |
115,483,312 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
Incidental Mutation