Incidental Mutation 'R0524:Acbd3'
ID 66949
Institutional Source Beutler Lab
Gene Symbol Acbd3
Ensembl Gene ENSMUSG00000026499
Gene Name acyl-Coenzyme A binding domain containing 3
Synonyms Pap7, 8430407O11Rik, D1Ertd10e, Gocap1
MMRRC Submission 038717-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0524 (G1)
Quality Score 106
Status Not validated
Chromosome 1
Chromosomal Location 180553608-180581769 bp(+) (GRCm39)
Type of Mutation small deletion (1 aa in frame mutation)
DNA Base Change (assembly) CGAGGAGGAGGAGGAGGA to CGAGGAGGAGGAGGA at 180574624 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027780]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027780
SMART Domains Protein: ENSMUSP00000027780
Gene: ENSMUSG00000026499

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
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 96.4%
  • 20x: 92.4%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 T C 13: 70,949,013 (GRCm39) E216G probably benign Het
Aoc3 C A 11: 101,228,337 (GRCm39) P715T probably damaging Het
Bnipl T C 3: 95,157,140 (GRCm39) D33G probably benign Het
Celsr2 T C 3: 108,308,903 (GRCm39) H1701R probably damaging Het
Clca3b T A 3: 144,531,082 (GRCm39) H756L probably benign Het
Clca4a A G 3: 144,675,154 (GRCm39) W159R probably damaging Het
Ddx49 A T 8: 70,749,574 (GRCm39) I252N probably damaging Het
Duox2 T C 2: 122,112,317 (GRCm39) T1290A possibly damaging Het
Fam111a T A 19: 12,565,412 (GRCm39) I431K probably damaging Het
Fam135b A T 15: 71,334,133 (GRCm39) D1020E probably benign Het
Flii A G 11: 60,610,887 (GRCm39) V514A probably damaging Het
Frmpd1 A G 4: 45,283,774 (GRCm39) D865G probably benign Het
Frmpd1 G A 4: 45,256,902 (GRCm39) V157M probably damaging Het
Gsr G A 8: 34,159,208 (GRCm39) probably null Het
H1f11-ps T A 19: 47,158,933 (GRCm39) K214M unknown Het
Hps3 A T 3: 20,066,940 (GRCm39) V542E probably damaging Het
Kcnj5 A G 9: 32,234,270 (GRCm39) I15T probably benign Het
Kif2b T C 11: 91,466,550 (GRCm39) R578G probably benign Het
Lamb2 A G 9: 108,361,571 (GRCm39) R676G possibly damaging Het
Mrpl40 A G 16: 18,692,302 (GRCm39) F94S possibly damaging Het
Myo7b C T 18: 32,146,477 (GRCm39) V103M possibly damaging Het
Nmt2 T A 2: 3,306,474 (GRCm39) W69R probably benign Het
Nsd3 C A 8: 26,190,605 (GRCm39) Q1130K possibly damaging Het
Olfml1 T C 7: 107,189,384 (GRCm39) S150P probably damaging Het
Or2g1 A T 17: 38,106,496 (GRCm39) K54* probably null Het
Or5b116 A G 19: 13,423,228 (GRCm39) N284S probably damaging Het
Pask A T 1: 93,238,556 (GRCm39) W1310R probably damaging Het
Pcdh18 T C 3: 49,710,091 (GRCm39) Q408R probably damaging Het
Pfkm A G 15: 98,029,488 (GRCm39) I700V probably benign Het
Pias1 A G 9: 62,859,460 (GRCm39) V16A probably damaging Het
Pnpla8 C T 12: 44,330,401 (GRCm39) Q318* probably null Het
Ppp1cc C T 5: 122,310,833 (GRCm39) R142* probably null Het
Pygl T A 12: 70,254,498 (GRCm39) N149I probably damaging Het
Rapgef6 T A 11: 54,581,110 (GRCm39) S1285T probably benign Het
Rdh13 A C 7: 4,447,296 (GRCm39) C10W probably damaging Het
Rgr A T 14: 36,760,252 (GRCm39) C273S probably benign Het
Ripk4 G T 16: 97,556,487 (GRCm39) Y22* probably null Het
Slc34a2 G A 5: 53,222,215 (GRCm39) W302* probably null Het
Smarce1 G A 11: 99,104,888 (GRCm39) T263M probably damaging Het
Sypl1 C T 12: 33,017,564 (GRCm39) P94L possibly damaging Het
Tet3 A G 6: 83,356,924 (GRCm39) I878T probably damaging Het
Tmem232 A G 17: 65,792,937 (GRCm39) S87P probably damaging Het
Tmem260 A G 14: 48,709,935 (GRCm39) T163A probably benign Het
Ttn T C 2: 76,555,796 (GRCm39) Y30403C probably damaging Het
Ubash3b A T 9: 40,927,904 (GRCm39) M468K probably benign Het
Ulk4 A G 9: 121,081,717 (GRCm39) probably null Het
Vmn1r72 A G 7: 11,403,719 (GRCm39) F243S probably benign Het
Wrap73 A G 4: 154,229,764 (GRCm39) Y45C probably damaging Het
Zfp704 T C 3: 9,674,424 (GRCm39) D119G unknown Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null Het
Other mutations in Acbd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03215:Acbd3 APN 1 180,572,670 (GRCm39) missense possibly damaging 0.61
R0321:Acbd3 UTSW 1 180,579,870 (GRCm39) missense probably damaging 1.00
R0365:Acbd3 UTSW 1 180,566,177 (GRCm39) missense probably damaging 1.00
R0733:Acbd3 UTSW 1 180,579,783 (GRCm39) missense possibly damaging 0.75
R0884:Acbd3 UTSW 1 180,574,624 (GRCm39) small deletion probably benign
R1074:Acbd3 UTSW 1 180,566,113 (GRCm39) nonsense probably null
R1327:Acbd3 UTSW 1 180,560,748 (GRCm39) missense possibly damaging 0.95
R1352:Acbd3 UTSW 1 180,566,095 (GRCm39) missense probably damaging 1.00
R1820:Acbd3 UTSW 1 180,572,703 (GRCm39) missense probably benign 0.13
R4697:Acbd3 UTSW 1 180,549,509 (GRCm39) unclassified probably benign
R5187:Acbd3 UTSW 1 180,564,297 (GRCm39) nonsense probably null
R5217:Acbd3 UTSW 1 180,553,938 (GRCm39) missense probably benign 0.18
R5368:Acbd3 UTSW 1 180,549,660 (GRCm39) unclassified probably benign
R6018:Acbd3 UTSW 1 180,579,903 (GRCm39) missense possibly damaging 0.88
R7072:Acbd3 UTSW 1 180,553,934 (GRCm39) missense probably benign
R7366:Acbd3 UTSW 1 180,562,064 (GRCm39) missense probably benign 0.41
R7952:Acbd3 UTSW 1 180,579,903 (GRCm39) missense possibly damaging 0.88
R8260:Acbd3 UTSW 1 180,566,095 (GRCm39) missense probably damaging 1.00
R8267:Acbd3 UTSW 1 180,574,413 (GRCm39) missense probably damaging 1.00
R8327:Acbd3 UTSW 1 180,566,158 (GRCm39) missense probably damaging 0.98
R8356:Acbd3 UTSW 1 180,553,881 (GRCm39) missense probably benign
R8848:Acbd3 UTSW 1 180,562,084 (GRCm39) critical splice donor site probably null
R9483:Acbd3 UTSW 1 180,572,721 (GRCm39) missense probably benign 0.41
R9681:Acbd3 UTSW 1 180,566,082 (GRCm39) nonsense probably null
X0027:Acbd3 UTSW 1 180,574,595 (GRCm39) missense possibly damaging 0.80
Predicted Primers
Posted On 2013-08-19