Incidental Mutation 'R0865:Gga3'
| ID |
82316 |
| 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 |
039039-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.717)
|
| Stock # |
R0865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115475081-115494877 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 115483285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 91
(N91K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138597
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019135]
[ENSMUST00000106508]
[ENSMUST00000125097]
[ENSMUST00000156173]
|
| AlphaFold |
Q8BMI3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019135
AA Change: N91K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019135
Gene: ENSMUSG00000020740
AA Change: N91K
| 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: N91K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102117
Gene: ENSMUSG00000020740
AA Change: N91K
| 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 damaging
Transcript: ENSMUST00000125097
AA Change: N91K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118024
Gene: ENSMUSG00000020740
AA Change: N91K
| 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 |
probably damaging
Transcript: ENSMUST00000156173
AA Change: N91K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138597
Gene: ENSMUSG00000020740
AA Change: N91K
| 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: ENSMUST00000148782
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154832
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136790
|
| Meta Mutation Damage Score |
0.5099 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
98% (53/54) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
A |
G |
15: 76,479,843 (GRCm39) |
E581G |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,094,841 (GRCm39) |
N666S |
probably damaging |
Het |
| Apcs |
T |
C |
1: 172,721,782 (GRCm39) |
D188G |
probably benign |
Het |
| Arih2 |
A |
G |
9: 108,526,499 (GRCm39) |
|
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,742,677 (GRCm39) |
K981E |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,869,784 (GRCm39) |
I81K |
probably damaging |
Het |
| Cacng8 |
T |
A |
7: 3,460,625 (GRCm39) |
I136N |
possibly damaging |
Het |
| Cdh22 |
A |
T |
2: 165,022,976 (GRCm39) |
W32R |
probably damaging |
Het |
| Cel |
A |
G |
2: 28,450,627 (GRCm39) |
S133P |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,740,568 (GRCm39) |
T495A |
possibly damaging |
Het |
| Clock |
A |
T |
5: 76,414,271 (GRCm39) |
|
probably benign |
Het |
| Cox6a2 |
A |
G |
7: 127,804,995 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
C |
A |
7: 26,461,654 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
G |
A |
12: 118,154,579 (GRCm39) |
Q234* |
probably null |
Het |
| Idh1 |
T |
C |
1: 65,200,315 (GRCm39) |
T350A |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,971,564 (GRCm39) |
|
probably null |
Het |
| Itgb1 |
A |
G |
8: 129,436,732 (GRCm39) |
|
probably null |
Het |
| Kank4 |
A |
T |
4: 98,662,900 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,315,194 (GRCm39) |
D281E |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,730,067 (GRCm39) |
|
probably benign |
Het |
| Kpna4 |
T |
C |
3: 69,008,750 (GRCm39) |
E145G |
probably damaging |
Het |
| Lacc1 |
A |
G |
14: 77,271,584 (GRCm39) |
I201T |
possibly damaging |
Het |
| Larp7 |
T |
C |
3: 127,337,884 (GRCm39) |
K392E |
probably damaging |
Het |
| Lbh |
T |
A |
17: 73,228,224 (GRCm39) |
M23K |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,382,514 (GRCm39) |
E361V |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,116,046 (GRCm39) |
S470P |
probably benign |
Het |
| Ngef |
T |
A |
1: 87,412,323 (GRCm39) |
M449L |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,591,512 (GRCm39) |
T259A |
probably benign |
Het |
| Or2w3 |
T |
C |
11: 58,556,478 (GRCm39) |
I31T |
possibly damaging |
Het |
| Or7e178 |
T |
A |
9: 20,226,045 (GRCm39) |
Y57F |
probably damaging |
Het |
| Peak1 |
A |
T |
9: 56,165,116 (GRCm39) |
D937E |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,872,135 (GRCm39) |
K72E |
probably benign |
Het |
| Ptprn |
T |
G |
1: 75,224,782 (GRCm39) |
|
probably null |
Het |
| Scgn |
C |
T |
13: 24,146,102 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,741,748 (GRCm39) |
I824V |
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,532,847 (GRCm39) |
S326P |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,199,181 (GRCm39) |
S3126P |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,493,815 (GRCm39) |
C902R |
possibly damaging |
Het |
| Tmem63b |
T |
C |
17: 45,972,445 (GRCm39) |
I721V |
probably benign |
Het |
| Trim30c |
A |
G |
7: 104,039,658 (GRCm39) |
S46P |
probably damaging |
Het |
| Trim59 |
T |
C |
3: 68,944,941 (GRCm39) |
D133G |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,641,159 (GRCm39) |
|
probably null |
Het |
| Ttll10 |
A |
G |
4: 156,128,135 (GRCm39) |
L391P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,623,585 (GRCm39) |
T15331A |
possibly damaging |
Het |
| Vmn1r237 |
C |
T |
17: 21,534,976 (GRCm39) |
T233I |
probably damaging |
Het |
| Vmn2r115 |
A |
T |
17: 23,565,382 (GRCm39) |
D423V |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,829,976 (GRCm39) |
R58S |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,268,516 (GRCm39) |
I240F |
probably benign |
Het |
| Wdr3 |
A |
G |
3: 100,060,112 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
T |
C |
12: 98,745,528 (GRCm39) |
|
probably null |
Het |
| Zc3hav1 |
C |
T |
6: 38,330,837 (GRCm39) |
|
probably benign |
Het |
| Zfp335 |
A |
T |
2: 164,741,415 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAGCTGCCTAGACCTCAACTG -3'
(R):5'- AGCAAATCCCTGCACTTGGGAC -3'
Sequencing Primer
(F):5'- TGAGTCAGCCTCTAGGAACCAG -3'
(R):5'- cacaccagaagaggcatcag -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation