Incidental Mutation 'IGL00309:Gga1'
ID5823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gga1
Ensembl Gene ENSMUSG00000033128
Gene Namegolgi associated, gamma adaptin ear containing, ARF binding protein 1
Synonyms4930406E12Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.366) question?
Stock #IGL00309
Quality Score
Status
Chromosome15
Chromosomal Location78877190-78894585 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 78883355 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 98 (V98L)
Ref Sequence ENSEMBL: ENSMUSP00000155780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041587] [ENSMUST00000230192]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041587
AA Change: V98L

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035992
Gene: ENSMUSG00000033128
AA Change: V98L

DomainStartEndE-ValueType
VHS 10 143 9.89e-45 SMART
Pfam:GAT 222 299 1.4e-27 PFAM
low complexity region 313 340 N/A INTRINSIC
low complexity region 366 378 N/A INTRINSIC
low complexity region 419 425 N/A INTRINSIC
low complexity region 459 470 N/A INTRINSIC
low complexity region 474 489 N/A INTRINSIC
Alpha_adaptinC2 503 627 4.21e-37 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000230192
AA Change: V98L

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230772
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) protein family. Members of this family are 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 encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,532,666 probably benign Het
Abca9 T A 11: 110,160,516 D118V probably benign Het
Adgrb2 T A 4: 130,018,805 I1241N probably damaging Het
Arsb A G 13: 93,790,100 D126G probably benign Het
BB014433 G T 8: 15,042,510 N114K probably benign Het
Ccne2 T A 4: 11,199,322 V241E probably benign Het
Ccnjl A T 11: 43,583,196 K199N probably benign Het
Cyp2c55 A G 19: 39,011,746 T130A probably benign Het
Cyp2c70 A T 19: 40,156,826 N395K probably benign Het
Dst T C 1: 34,160,652 V67A probably damaging Het
Dysf G A 6: 84,108,099 R806H probably damaging Het
Extl3 G A 14: 65,076,989 P248L probably benign Het
Fcgbp A G 7: 28,085,130 D205G probably damaging Het
Gpr6 C T 10: 41,070,816 A257T probably damaging Het
Mex3c C T 18: 73,589,889 T351M probably damaging Het
Olfr1019 A T 2: 85,841,362 V143D probably benign Het
Olfr1513 A G 14: 52,349,710 V112A probably benign Het
Olfr154 A T 2: 85,664,356 V26D probably benign Het
Olfr961 T A 9: 39,647,340 S205T probably benign Het
Prex1 A G 2: 166,609,823 Y412H probably damaging Het
Slc25a25 A T 2: 32,419,160 V75E probably benign Het
Sv2c A G 13: 96,048,429 C247R probably damaging Het
Trpm5 A T 7: 143,082,991 V403E probably benign Het
Wdr17 A G 8: 54,687,711 V202A probably damaging Het
Zscan25 A G 5: 145,283,749 E118G probably damaging Het
Other mutations in Gga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01921:Gga1 APN 15 78893795 missense possibly damaging 0.82
IGL02178:Gga1 APN 15 78892047 missense probably benign 0.00
IGL02697:Gga1 APN 15 78885346 missense probably damaging 1.00
IGL02931:Gga1 APN 15 78893322 missense possibly damaging 0.95
IGL03025:Gga1 APN 15 78888182 missense probably damaging 1.00
PIT4472001:Gga1 UTSW 15 78893636 missense probably damaging 1.00
PIT4585001:Gga1 UTSW 15 78893790 missense probably benign 0.37
R0838:Gga1 UTSW 15 78891918 missense probably damaging 1.00
R1167:Gga1 UTSW 15 78888170 missense probably damaging 1.00
R1620:Gga1 UTSW 15 78888470 missense probably damaging 1.00
R1757:Gga1 UTSW 15 78889030 missense probably damaging 1.00
R2128:Gga1 UTSW 15 78888448 missense probably damaging 1.00
R2438:Gga1 UTSW 15 78885298 missense probably damaging 1.00
R4050:Gga1 UTSW 15 78891491 missense probably benign 0.01
R4199:Gga1 UTSW 15 78889075 missense probably damaging 1.00
R4684:Gga1 UTSW 15 78885309 missense probably damaging 0.99
R5070:Gga1 UTSW 15 78892017 missense possibly damaging 0.57
R5579:Gga1 UTSW 15 78893188 missense probably damaging 1.00
R7340:Gga1 UTSW 15 78891451 missense probably benign 0.00
R7864:Gga1 UTSW 15 78888244 missense probably damaging 1.00
R7947:Gga1 UTSW 15 78888244 missense probably damaging 1.00
Z1088:Gga1 UTSW 15 78892021 missense probably damaging 1.00
Posted On2012-04-20