Incidental Mutation 'IGL02697:Gga1'
ID 303973
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gga1
Ensembl Gene ENSMUSG00000033128
Gene Name golgi associated, gamma adaptin ear containing, ARF binding protein 1
Synonyms 4930406E12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.208) question?
Stock # IGL02697
Quality Score
Status
Chromosome 15
Chromosomal Location 78761390-78778785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78769546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 173 (E173G)
Ref Sequence ENSEMBL: ENSMUSP00000155780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041587] [ENSMUST00000230192]
AlphaFold Q8R0H9
Predicted Effect probably damaging
Transcript: ENSMUST00000041587
AA Change: E173G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035992
Gene: ENSMUSG00000033128
AA Change: E173G

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 probably damaging
Transcript: ENSMUST00000230192
AA Change: E173G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 A T 4: 47,471,772 (GRCm39) N345K probably damaging Het
Atp13a5 T A 16: 29,167,350 (GRCm39) H151L probably benign Het
C2cd3 T C 7: 100,076,376 (GRCm39) probably benign Het
Cep57l1 G T 10: 41,598,950 (GRCm39) P212T possibly damaging Het
Coch G A 12: 51,643,821 (GRCm39) A135T probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cul5 A G 9: 53,566,631 (GRCm39) S134P probably benign Het
Cyp4f14 T C 17: 33,124,597 (GRCm39) T485A probably damaging Het
Dennd3 T C 15: 73,396,085 (GRCm39) F198S possibly damaging Het
Dennd5a C A 7: 109,493,988 (GRCm39) A1239S probably damaging Het
Dhx8 T C 11: 101,645,607 (GRCm39) I822T probably damaging Het
Dnah5 A T 15: 28,445,289 (GRCm39) M4142L probably benign Het
Dyrk4 T A 6: 126,875,971 (GRCm39) N88I possibly damaging Het
Emc1 T C 4: 139,079,955 (GRCm39) F9L probably benign Het
H1f7 T C 15: 98,155,050 (GRCm39) K33R probably benign Het
Hepacam2 A T 6: 3,476,036 (GRCm39) H296Q possibly damaging Het
Ipo9 G T 1: 135,318,314 (GRCm39) Q699K probably benign Het
Jmy A T 13: 93,596,209 (GRCm39) Y473* probably null Het
Kdm5b A T 1: 134,516,511 (GRCm39) probably benign Het
Kit A G 5: 75,767,919 (GRCm39) S101G probably benign Het
Krtap4-9 T A 11: 99,676,574 (GRCm39) V165E unknown Het
Lnpep T A 17: 17,773,455 (GRCm39) M639L probably benign Het
Lrp10 C T 14: 54,707,154 (GRCm39) P664S probably damaging Het
Nrde2 A T 12: 100,097,466 (GRCm39) L778H probably damaging Het
Oat A T 7: 132,171,684 (GRCm39) probably null Het
Pfkl A T 10: 77,835,752 (GRCm39) S219T probably benign Het
Phtf1 C T 3: 103,904,879 (GRCm39) A509V probably benign Het
Pigz T A 16: 31,763,577 (GRCm39) probably null Het
Pltp T A 2: 164,682,446 (GRCm39) Y344F probably benign Het
Ppp6r2 A G 15: 89,140,958 (GRCm39) Y107C probably benign Het
Ptprk A G 10: 28,451,614 (GRCm39) D1034G possibly damaging Het
Rell1 C T 5: 64,084,354 (GRCm39) V221I probably damaging Het
Skint5 A G 4: 113,336,910 (GRCm39) F1429S probably benign Het
Slc22a28 T A 19: 8,094,491 (GRCm39) T177S probably benign Het
Stxbp5 G T 10: 9,638,700 (GRCm39) S1033* probably null Het
Tgs1 A G 4: 3,585,564 (GRCm39) D147G probably benign Het
Thumpd3 T A 6: 113,044,256 (GRCm39) N423K probably benign Het
Tns3 G T 11: 8,442,346 (GRCm39) D672E probably benign Het
Vmn2r61 T A 7: 41,924,892 (GRCm39) V482E possibly damaging Het
Vmn2r72 G T 7: 85,387,879 (GRCm39) Q562K probably benign Het
Zan T C 5: 137,398,810 (GRCm39) T4185A unknown Het
Other mutations in Gga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Gga1 APN 15 78,767,555 (GRCm39) missense possibly damaging 0.68
IGL01921:Gga1 APN 15 78,777,995 (GRCm39) missense possibly damaging 0.82
IGL02178:Gga1 APN 15 78,776,247 (GRCm39) missense probably benign 0.00
IGL02931:Gga1 APN 15 78,777,522 (GRCm39) missense possibly damaging 0.95
IGL03025:Gga1 APN 15 78,772,382 (GRCm39) missense probably damaging 1.00
PIT4472001:Gga1 UTSW 15 78,777,836 (GRCm39) missense probably damaging 1.00
PIT4585001:Gga1 UTSW 15 78,777,990 (GRCm39) missense probably benign 0.37
R0838:Gga1 UTSW 15 78,776,118 (GRCm39) missense probably damaging 1.00
R1167:Gga1 UTSW 15 78,772,370 (GRCm39) missense probably damaging 1.00
R1620:Gga1 UTSW 15 78,772,670 (GRCm39) missense probably damaging 1.00
R1757:Gga1 UTSW 15 78,773,230 (GRCm39) missense probably damaging 1.00
R2128:Gga1 UTSW 15 78,772,648 (GRCm39) missense probably damaging 1.00
R2438:Gga1 UTSW 15 78,769,498 (GRCm39) missense probably damaging 1.00
R4050:Gga1 UTSW 15 78,775,691 (GRCm39) missense probably benign 0.01
R4199:Gga1 UTSW 15 78,773,275 (GRCm39) missense probably damaging 1.00
R4684:Gga1 UTSW 15 78,769,509 (GRCm39) missense probably damaging 0.99
R5070:Gga1 UTSW 15 78,776,217 (GRCm39) missense possibly damaging 0.57
R5579:Gga1 UTSW 15 78,777,388 (GRCm39) missense probably damaging 1.00
R7340:Gga1 UTSW 15 78,775,651 (GRCm39) missense probably benign 0.00
R7657:Gga1 UTSW 15 78,773,327 (GRCm39) splice site probably null
R7864:Gga1 UTSW 15 78,772,444 (GRCm39) missense probably damaging 1.00
R9038:Gga1 UTSW 15 78,768,321 (GRCm39) missense probably damaging 0.97
R9089:Gga1 UTSW 15 78,773,952 (GRCm39) missense probably damaging 0.98
R9443:Gga1 UTSW 15 78,765,247 (GRCm39) missense possibly damaging 0.88
R9504:Gga1 UTSW 15 78,767,528 (GRCm39) missense probably damaging 1.00
Z1088:Gga1 UTSW 15 78,776,221 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16