Incidental Mutation 'R2438:Gga1'
ID 249710
Institutional Source Beutler Lab
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 # R2438 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 78761390-78778785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78769498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 157 (F157S)
Ref Sequence ENSEMBL: ENSMUSP00000035992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041587] [ENSMUST00000230192]
AlphaFold Q8R0H9
Predicted Effect probably damaging
Transcript: ENSMUST00000041587
AA Change: F157S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035992
Gene: ENSMUSG00000033128
AA Change: F157S

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: F157S

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230243
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230772
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.6%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,936,133 (GRCm39) V318A probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cd8b1 A G 6: 71,306,740 (GRCm39) K156E probably damaging Het
Ckap5 T C 2: 91,425,753 (GRCm39) M1262T possibly damaging Het
Crebbp A G 16: 3,972,722 (GRCm39) M324T possibly damaging Het
Cwf19l1 G A 19: 44,099,002 (GRCm39) R523C probably benign Het
Defb21 A T 2: 152,416,695 (GRCm39) Y57F possibly damaging Het
Ebf2 T A 14: 67,625,391 (GRCm39) V233D probably damaging Het
Gfpt1 A T 6: 87,034,727 (GRCm39) E175V probably null Het
Impdh2 A T 9: 108,437,815 (GRCm39) D28V probably benign Het
Itgav A G 2: 83,606,886 (GRCm39) D409G probably damaging Het
Krt5 T C 15: 101,620,093 (GRCm39) N208S probably benign Het
Matcap2 T C 9: 22,342,979 (GRCm39) V291A probably damaging Het
Myo15a A T 11: 60,373,878 (GRCm39) I1242F probably damaging Het
Myo1g A T 11: 6,461,542 (GRCm39) N636K probably damaging Het
Nrros T C 16: 31,962,929 (GRCm39) probably null Het
Nrros C T 16: 31,963,117 (GRCm39) G264D probably benign Het
Nsun4 A G 4: 115,905,794 (GRCm39) V54A probably benign Het
Or4k49 A T 2: 111,495,096 (GRCm39) D175V probably damaging Het
Or5b105 A T 19: 13,079,785 (GRCm39) D294E probably benign Het
Pilrb2 T A 5: 137,869,175 (GRCm39) I142L probably benign Het
Ryr2 A G 13: 11,816,734 (GRCm39) S596P probably damaging Het
Sema5a G T 15: 32,550,399 (GRCm39) S146I possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc43a2 A T 11: 75,453,957 (GRCm39) E290V possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Zfp456 A T 13: 67,515,073 (GRCm39) I211N probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CAAACCATCTCTGTTGGAGTTC -3'
(R):5'- ATGGGTCAGTGCATTCAGCC -3'

Sequencing Primer
(F):5'- TGGAGTTCACTCACTGCAG -3'
(R):5'- AGTGCATTCAGCCGGCTC -3'
Posted On 2014-11-12