Incidental Mutation 'IGL01921:Gga1'
ID 180100
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 # IGL01921
Quality Score
Status
Chromosome 15
Chromosomal Location 78761390-78778785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78777995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 620 (M620T)
Ref Sequence ENSEMBL: ENSMUSP00000035992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041587] [ENSMUST00000230192]
AlphaFold Q8R0H9
Predicted Effect possibly damaging
Transcript: ENSMUST00000041587
AA Change: M620T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000035992
Gene: ENSMUSG00000033128
AA Change: M620T

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 noncoding transcript
Transcript: ENSMUST00000183370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229353
Predicted Effect probably benign
Transcript: ENSMUST00000230192
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l C A 8: 44,078,548 (GRCm39) V559L probably damaging Het
Agtpbp1 T C 13: 59,660,297 (GRCm39) T310A possibly damaging Het
Ccdc102a T C 8: 95,640,019 (GRCm39) T92A probably damaging Het
Ciao1 C T 2: 127,084,755 (GRCm39) V328I probably benign Het
Col12a1 T A 9: 79,557,299 (GRCm39) Q1943L possibly damaging Het
Diaph1 T C 18: 37,989,261 (GRCm39) D898G possibly damaging Het
Dio3 A T 12: 110,245,789 (GRCm39) T42S possibly damaging Het
Dnah8 T A 17: 30,955,115 (GRCm39) I2048N probably benign Het
Egr2 T A 10: 67,376,208 (GRCm39) probably null Het
Epc2 T A 2: 49,422,209 (GRCm39) Y368N probably damaging Het
Furin A G 7: 80,045,702 (GRCm39) probably benign Het
Gm21976 T A 13: 98,441,829 (GRCm39) Y45* probably null Het
Gpn1 T C 5: 31,656,612 (GRCm39) V105A probably damaging Het
Hoxb8 A T 11: 96,175,181 (GRCm39) N206I probably damaging Het
Kif15 T A 9: 122,808,569 (GRCm39) L67Q probably damaging Het
Krt40 T A 11: 99,433,989 (GRCm39) probably benign Het
Mat1a T C 14: 40,836,292 (GRCm39) probably benign Het
Mkrn1 T C 6: 39,382,847 (GRCm39) D99G possibly damaging Het
Plxnb2 T C 15: 89,048,474 (GRCm39) Y645C possibly damaging Het
Ppp1r13b A G 12: 111,799,671 (GRCm39) V702A probably benign Het
Ppp4r4 G T 12: 103,542,569 (GRCm39) M1I probably null Het
Prss21 T A 17: 24,091,414 (GRCm39) M217K possibly damaging Het
R3hcc1l A G 19: 42,552,220 (GRCm39) S406G possibly damaging Het
Rfesd T C 13: 76,156,385 (GRCm39) E7G probably benign Het
Ripk4 T C 16: 97,544,565 (GRCm39) E694G possibly damaging Het
Rlf T C 4: 121,003,943 (GRCm39) D1679G probably damaging Het
Ryr2 C T 13: 11,569,436 (GRCm39) C4956Y possibly damaging Het
Scart1 G T 7: 139,808,632 (GRCm39) E848* probably null Het
Uri1 T A 7: 37,681,072 (GRCm39) K111* probably null Het
Usf1 A G 1: 171,244,424 (GRCm39) E108G possibly damaging Het
Vmn1r71 C A 7: 10,482,199 (GRCm39) R163L probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r86 T C 10: 130,291,610 (GRCm39) T52A probably benign Het
Washc5 A T 15: 59,213,958 (GRCm39) probably null Het
Zfp583 T C 7: 6,328,569 (GRCm39) T7A possibly damaging Het
Zim1 T G 7: 6,685,184 (GRCm39) probably benign Het
Other mutations in Gga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Gga1 APN 15 78,767,555 (GRCm39) missense possibly damaging 0.68
IGL02178:Gga1 APN 15 78,776,247 (GRCm39) missense probably benign 0.00
IGL02697:Gga1 APN 15 78,769,546 (GRCm39) missense probably damaging 1.00
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 2014-05-07