Incidental Mutation 'R8860:Gga3'
| ID |
675618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gga3
|
| Ensembl Gene |
ENSMUSG00000020740 |
| Gene Name |
golgi associated, gamma adaptin ear containing, ARF binding protein 3 |
| Synonyms |
C230037M19Rik |
| MMRRC Submission |
068678-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.717)
|
| Stock # |
R8860 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115475081-115494877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115481244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 242
(D242G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019135]
[ENSMUST00000106508]
[ENSMUST00000125097]
[ENSMUST00000156173]
|
| AlphaFold |
Q8BMI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019135
AA Change: D242G
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740
AA Change: D242G
| 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 |
possibly damaging
Transcript: ENSMUST00000106508
AA Change: D242G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740
AA Change: D242G
| 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 |
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 |
probably benign
Transcript: ENSMUST00000156173
AA Change: D242G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740
AA Change: D242G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (45/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
G |
12: 71,231,197 (GRCm39) |
V985G |
possibly damaging |
Het |
| Acr |
T |
G |
15: 89,458,057 (GRCm39) |
M246R |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,387,043 (GRCm39) |
D853E |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,680,535 (GRCm39) |
F52L |
probably null |
Het |
| Blm |
A |
T |
7: 80,144,276 (GRCm39) |
C782S |
probably benign |
Het |
| C2cd5 |
A |
G |
6: 143,028,946 (GRCm39) |
Y98H |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,062,570 (GRCm39) |
D192G |
probably benign |
Het |
| Celf2 |
A |
G |
2: 6,565,468 (GRCm39) |
|
probably null |
Het |
| Chd1l |
A |
G |
3: 97,477,685 (GRCm39) |
F690S |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,076,407 (GRCm39) |
S435P |
possibly damaging |
Het |
| Cisd3 |
T |
A |
11: 97,576,703 (GRCm39) |
S10T |
probably benign |
Het |
| Cma2 |
G |
T |
14: 56,210,574 (GRCm39) |
C143F |
probably damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| Cnppd1 |
A |
G |
1: 75,113,063 (GRCm39) |
S402P |
probably damaging |
Het |
| Crtc1 |
A |
G |
8: 70,840,805 (GRCm39) |
S474P |
probably damaging |
Het |
| Dhx38 |
A |
T |
8: 110,289,361 (GRCm39) |
L13* |
probably null |
Het |
| Fat4 |
A |
T |
3: 38,946,269 (GRCm39) |
T1721S |
probably benign |
Het |
| Fntb |
T |
A |
12: 76,934,826 (GRCm39) |
V201E |
possibly damaging |
Het |
| Hif3a |
A |
T |
7: 16,774,912 (GRCm39) |
M562K |
probably benign |
Het |
| Hnrnpc |
A |
G |
14: 52,312,792 (GRCm39) |
S261P |
possibly damaging |
Het |
| Intu |
G |
A |
3: 40,627,162 (GRCm39) |
M314I |
probably benign |
Het |
| Lims1 |
C |
T |
10: 58,243,925 (GRCm39) |
Q126* |
probably null |
Het |
| Lrrc14b |
T |
A |
13: 74,509,408 (GRCm39) |
D333V |
probably damaging |
Het |
| Meaf6 |
T |
A |
4: 124,979,990 (GRCm39) |
L48Q |
probably damaging |
Het |
| Miip |
T |
A |
4: 147,950,839 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,132,335 (GRCm39) |
I155N |
probably damaging |
Het |
| Nnt |
T |
C |
13: 119,476,407 (GRCm39) |
Y733C |
|
Het |
| Nup155 |
T |
C |
15: 8,159,640 (GRCm39) |
V517A |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,898,440 (GRCm39) |
R6607Q |
unknown |
Het |
| Or2ak7 |
C |
T |
11: 58,574,966 (GRCm39) |
T89I |
probably benign |
Het |
| Or51s1 |
A |
G |
7: 102,558,336 (GRCm39) |
S237P |
probably benign |
Het |
| Ptprg |
T |
C |
14: 12,213,685 (GRCm38) |
Y1018H |
probably damaging |
Het |
| Rdh8 |
A |
C |
9: 20,734,021 (GRCm39) |
N69T |
probably benign |
Het |
| Rgsl1 |
G |
A |
1: 153,697,100 (GRCm39) |
Q572* |
probably null |
Het |
| Septin7 |
A |
T |
9: 25,163,980 (GRCm39) |
N16Y |
possibly damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,241,218 (GRCm39) |
N69D |
probably benign |
Het |
| Ssh3 |
A |
T |
19: 4,317,992 (GRCm39) |
V41E |
probably damaging |
Het |
| Tmem253 |
A |
G |
14: 52,256,303 (GRCm39) |
R168G |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,791,654 (GRCm39) |
F526I |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,522,149 (GRCm39) |
|
probably benign |
Het |
| Vps4b |
A |
G |
1: 106,710,414 (GRCm39) |
F156L |
possibly damaging |
Het |
| Zfp354c |
T |
A |
11: 50,706,019 (GRCm39) |
H352L |
probably damaging |
Het |
| Zic2 |
A |
T |
14: 122,713,530 (GRCm39) |
H148L |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGCATGGAGCACATTATCAG -3'
(R):5'- TGCCTGGTTGTTGAAAGACAAG -3'
Sequencing Primer
(F):5'- GGAGCACATTATCAGGGTACTGTATC -3'
(R):5'- AGACAAGCTAAGTGACCTTGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation