Incidental Mutation 'IGL03215:Acbd3'
ID413447
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acbd3
Ensembl Gene ENSMUSG00000026499
Gene Nameacyl-Coenzyme A binding domain containing 3
SynonymsD1Ertd10e, 8430407O11Rik, Pap7, Gocap1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03215
Quality Score
Status
Chromosome1
Chromosomal Location180726043-180754204 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 180745105 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 310 (A310V)
Ref Sequence ENSEMBL: ENSMUSP00000027780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027780]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027780
AA Change: A310V

PolyPhen 2 Score 0.605 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027780
Gene: ENSMUSG00000026499
AA Change: A310V

DomainStartEndE-ValueType
low complexity region 52 74 N/A INTRINSIC
Pfam:ACBP 81 167 3.2e-18 PFAM
coiled coil region 173 252 N/A INTRINSIC
low complexity region 268 305 N/A INTRINSIC
low complexity region 346 356 N/A INTRINSIC
Pfam:GOLD_2 394 524 2.5e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192748
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is involved in the maintenance of Golgi structure and function through its interaction with the integral membrane protein giantin. It may also be involved in the hormonal regulation of steroid formation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acmsd C A 1: 127,758,013 S197* probably null Het
Adgrg4 A T X: 56,977,596 N2761I probably damaging Het
Amy1 G A 3: 113,556,000 A507V probably benign Het
Apob T C 12: 8,013,818 F316S possibly damaging Het
Arhgap10 T C 8: 77,277,152 T675A probably benign Het
Bbx A G 16: 50,202,572 I675T probably damaging Het
Cep126 C A 9: 8,100,530 E668* probably null Het
Cnga2 A G X: 72,009,166 D549G probably damaging Het
Dnah1 T A 14: 31,274,391 I2663F probably damaging Het
Fmo5 A G 3: 97,641,806 M257V probably benign Het
Galntl6 T C 8: 58,911,402 I25V probably benign Het
Il17ra A G 6: 120,472,114 N54S probably damaging Het
Mthfd1l A T 10: 4,041,826 T593S probably benign Het
Olfr1019 A T 2: 85,841,381 S137T probably damaging Het
Olfr1123 G A 2: 87,418,068 V7I probably benign Het
Olfr193 A T 16: 59,109,962 V216D possibly damaging Het
Olfr390 G T 11: 73,787,385 W149L probably damaging Het
Rnasel T A 1: 153,758,555 L578Q probably damaging Het
Serpinb1a A G 13: 32,850,369 L13S probably damaging Het
Slf1 G A 13: 77,049,977 P726L probably benign Het
Spta1 T C 1: 174,218,743 M1630T probably damaging Het
Stk16 T C 1: 75,212,592 probably benign Het
Tnxb T C 17: 34,692,525 F1724L possibly damaging Het
Vmn1r58 T C 7: 5,410,836 I132V probably benign Het
Zbtb41 T C 1: 139,446,950 I716T probably damaging Het
Other mutations in Acbd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0321:Acbd3 UTSW 1 180752305 missense probably damaging 1.00
R0365:Acbd3 UTSW 1 180738612 missense probably damaging 1.00
R0524:Acbd3 UTSW 1 180747059 small deletion probably benign
R0733:Acbd3 UTSW 1 180752218 missense possibly damaging 0.75
R0884:Acbd3 UTSW 1 180747059 small deletion probably benign
R1074:Acbd3 UTSW 1 180738548 nonsense probably null
R1327:Acbd3 UTSW 1 180733183 missense possibly damaging 0.95
R1352:Acbd3 UTSW 1 180738530 missense probably damaging 1.00
R1820:Acbd3 UTSW 1 180745138 missense probably benign 0.13
R4697:Acbd3 UTSW 1 180721944 unclassified probably benign
R5187:Acbd3 UTSW 1 180736732 nonsense probably null
R5217:Acbd3 UTSW 1 180726373 missense probably benign 0.18
R5368:Acbd3 UTSW 1 180722095 unclassified probably benign
R6018:Acbd3 UTSW 1 180752338 missense possibly damaging 0.88
R7072:Acbd3 UTSW 1 180726369 missense probably benign
R7366:Acbd3 UTSW 1 180734499 missense probably benign 0.41
X0027:Acbd3 UTSW 1 180747030 missense possibly damaging 0.80
Posted On2016-08-02