Incidental Mutation 'R7864:Gga1'
ID607743
Institutional Source Beutler Lab
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? Probably non essential (E-score: 0.241) question?
Stock #R7864 (G1)
Quality Score225.009
Status Not validated
Chromosome15
Chromosomal Location78877190-78894585 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78888244 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 248 (M248T)
Ref Sequence ENSEMBL: ENSMUSP00000035992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041587] [ENSMUST00000230192]
Predicted Effect probably damaging
Transcript: ENSMUST00000041587
AA Change: M248T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035992
Gene: ENSMUSG00000033128
AA Change: M248T

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: M248T

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot2 C T 12: 83,988,022 R41W probably benign Het
Adam32 T A 8: 24,922,276 H88L probably benign Het
Ank1 A G 8: 23,087,960 T238A probably damaging Het
Arid1b T C 17: 5,342,255 L1967P probably damaging Het
Bbx G T 16: 50,262,434 H216Q probably damaging Het
C030005K15Rik G A 10: 97,725,752 T39M probably damaging Het
C1s2 A G 6: 124,625,287 V655A probably benign Het
Carmil2 A G 8: 105,688,274 Y184C probably damaging Het
Ces1f G A 8: 93,274,141 A125V possibly damaging Het
Chaf1a C T 17: 56,047,339 T203I unknown Het
Cntn5 A G 9: 9,984,177 S144P probably damaging Het
Cpa5 A T 6: 30,631,395 Y436F probably damaging Het
Dbf4 A T 5: 8,410,010 H150Q possibly damaging Het
Dlg5 G A 14: 24,245,212 P80L probably damaging Het
Dock8 A T 19: 25,163,500 D1360V possibly damaging Het
Ecm1 A T 3: 95,734,376 I515N probably benign Het
Fancc A T 13: 63,400,259 C75* probably null Het
Foxa1 A T 12: 57,542,747 V229D probably damaging Het
Gm1527 A G 3: 28,926,470 Q573R probably benign Het
Gm5615 A T 9: 36,534,451 F68Y probably benign Het
Hivep1 A C 13: 42,158,814 H1510P probably benign Het
Htr1f A C 16: 64,926,794 I45S probably damaging Het
Itsn1 T C 16: 91,801,566 V129A possibly damaging Het
Klrg2 G T 6: 38,628,089 Q347K possibly damaging Het
Lama2 G A 10: 27,056,615 T1996I probably benign Het
Man1a C A 10: 54,030,747 L219F possibly damaging Het
Mcub A G 3: 129,918,623 I201T probably damaging Het
Olfr1494 A G 19: 13,749,346 D80G probably benign Het
Otogl A G 10: 107,869,567 L633P probably damaging Het
Pik3ca T A 3: 32,443,613 L429* probably null Het
Pkhd1l1 T C 15: 44,526,053 probably null Het
Pld4 C A 12: 112,765,123 Q237K probably damaging Het
Plekhm2 T C 4: 141,628,046 E897G probably damaging Het
Pomt2 A G 12: 87,122,882 F475L probably benign Het
Popdc3 G A 10: 45,315,182 A130T probably benign Het
Prss54 T C 8: 95,559,669 K259E probably benign Het
Psg23 T G 7: 18,610,510 N340T possibly damaging Het
Rab1a G T 11: 20,215,673 G23* probably null Het
Rgs9 A T 11: 109,275,620 F108Y probably damaging Het
Scn9a T A 2: 66,484,560 T1605S possibly damaging Het
Sh2d4b G A 14: 40,840,251 T319I probably damaging Het
Slc28a3 A T 13: 58,578,403 probably null Het
Syngap1 A T 17: 26,970,528 Q1286L Het
Tmem132d G A 5: 127,783,916 T1047I probably damaging Het
Togaram2 G A 17: 71,700,940 R420H probably damaging Het
Uimc1 G A 13: 55,093,267 R3* probably null Het
Vmn2r7 C T 3: 64,691,526 V537I probably benign Het
Wwp1 T A 4: 19,635,328 K584N probably damaging Het
Zc3h12d A T 10: 7,839,959 Q42L possibly damaging Het
Zfp729a A T 13: 67,621,450 V220E probably benign Het
Zfp91 A G 19: 12,771,039 V391A probably damaging Het
Other mutations in Gga1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00309:Gga1 APN 15 78883355 missense possibly damaging 0.68
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
R7657:Gga1 UTSW 15 78889127 intron probably null
R7947:Gga1 UTSW 15 78888244 missense probably damaging 1.00
Z1088:Gga1 UTSW 15 78892021 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGACTTGGCCAAACAGAGC -3'
(R):5'- ATTGTCTTCCGTGTCACTGG -3'

Sequencing Primer
(F):5'- AGACTCGGGTGCCATTACCTC -3'
(R):5'- TCACTGGCCAGTCGGAAGAG -3'
Posted On2019-12-20