Incidental Mutation 'R6599:Acbd5'
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ID525097
Institutional Source Beutler Lab
Gene Symbol Acbd5
Ensembl Gene ENSMUSG00000026781
Gene Nameacyl-Coenzyme A binding domain containing 5
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6599 (G1)
Quality Score82.0076
Status Not validated
Chromosome2
Chromosomal Location23068167-23115558 bp(+) (GRCm38)
Type of Mutationstart gained
DNA Base Change (assembly) C to T at 23069080 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028121] [ENSMUST00000114523] [ENSMUST00000114526] [ENSMUST00000114529] [ENSMUST00000144088] [ENSMUST00000155602] [ENSMUST00000226571] [ENSMUST00000227663] [ENSMUST00000227809] [ENSMUST00000228050]
Predicted Effect probably benign
Transcript: ENSMUST00000028121
SMART Domains Protein: ENSMUSP00000028121
Gene: ENSMUSG00000026781

DomainStartEndE-ValueType
Pfam:ACBP 8 96 3.4e-35 PFAM
low complexity region 117 130 N/A INTRINSIC
coiled coil region 152 179 N/A INTRINSIC
low complexity region 208 220 N/A INTRINSIC
low complexity region 310 325 N/A INTRINSIC
coiled coil region 392 414 N/A INTRINSIC
transmembrane domain 442 464 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114523
SMART Domains Protein: ENSMUSP00000110169
Gene: ENSMUSG00000026781

DomainStartEndE-ValueType
Pfam:ACBP 8 96 2.4e-35 PFAM
low complexity region 117 130 N/A INTRINSIC
coiled coil region 152 179 N/A INTRINSIC
low complexity region 208 220 N/A INTRINSIC
low complexity region 310 325 N/A INTRINSIC
coiled coil region 393 415 N/A INTRINSIC
transmembrane domain 443 465 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114526
SMART Domains Protein: ENSMUSP00000110172
Gene: ENSMUSG00000026781

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
Pfam:ACBP 44 132 4.7e-35 PFAM
low complexity region 153 166 N/A INTRINSIC
coiled coil region 188 215 N/A INTRINSIC
low complexity region 244 256 N/A INTRINSIC
low complexity region 346 361 N/A INTRINSIC
coiled coil region 428 450 N/A INTRINSIC
transmembrane domain 478 500 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114529
SMART Domains Protein: ENSMUSP00000110175
Gene: ENSMUSG00000026781

DomainStartEndE-ValueType
low complexity region 9 19 N/A INTRINSIC
Pfam:ACBP 45 129 4.9e-30 PFAM
low complexity region 153 166 N/A INTRINSIC
coiled coil region 188 215 N/A INTRINSIC
low complexity region 244 256 N/A INTRINSIC
low complexity region 346 361 N/A INTRINSIC
coiled coil region 429 451 N/A INTRINSIC
transmembrane domain 479 501 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144088
SMART Domains Protein: ENSMUSP00000121395
Gene: ENSMUSG00000026781

DomainStartEndE-ValueType
Pfam:ACBP 8 52 4.4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155602
SMART Domains Protein: ENSMUSP00000117325
Gene: ENSMUSG00000026781

DomainStartEndE-ValueType
Pfam:ACBP 8 96 3.5e-36 PFAM
low complexity region 117 130 N/A INTRINSIC
low complexity region 146 157 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000226571
Predicted Effect probably benign
Transcript: ENSMUST00000227663
Predicted Effect probably benign
Transcript: ENSMUST00000227809
Predicted Effect probably benign
Transcript: ENSMUST00000228050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228778
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228891
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 95.9%
Validation Efficiency 94% (32/34)
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 acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 138,176,489 H150R probably benign Het
Adcyap1r1 G A 6: 55,479,994 V237M probably damaging Het
Akr1c6 T G 13: 4,449,319 probably null Het
BC037034 G T 5: 138,263,458 probably null Het
Ccdc7b T A 8: 129,166,981 F96L probably benign Het
Cubn T C 2: 13,310,673 H2983R possibly damaging Het
Dhx40 T A 11: 86,804,349 I112L possibly damaging Het
Dnmbp A T 19: 43,856,586 D1070E probably damaging Het
Eml2 G A 7: 19,201,163 V432I probably damaging Het
Ep300 G C 15: 81,586,713 D29H unknown Het
Exoc3 T C 13: 74,189,158 probably null Het
Fuk A T 8: 110,893,283 probably null Het
Gm6401 C A 14: 41,966,864 E83* probably null Het
Gm8267 G T 14: 44,717,910 T218K possibly damaging Het
Hif3a T A 7: 17,042,605 D470V possibly damaging Het
Hist1h1d T C 13: 23,555,277 probably null Het
Igf2r T C 17: 12,698,618 S1526G possibly damaging Het
Lrp2 T C 2: 69,469,405 D3101G probably damaging Het
Megf6 A G 4: 154,258,087 probably null Het
Mthfs G A 9: 89,239,908 G149D probably damaging Het
Nnmt T C 9: 48,603,369 D116G probably benign Het
Nqo2 T C 13: 33,979,556 F22S probably damaging Het
Olfr389 T A 11: 73,776,680 M216L probably benign Het
Olfr869 T C 9: 20,137,943 S276P probably damaging Het
Parm1 T C 5: 91,593,859 S29P possibly damaging Het
Prokr2 C T 2: 132,373,549 V331M possibly damaging Het
Ptch1 T A 13: 63,523,104 I871F probably damaging Het
Rps6ka5 C A 12: 100,597,909 G227V probably damaging Het
Tcaim C T 9: 122,834,779 Q445* probably null Het
Trpc7 T C 13: 56,810,380 probably null Het
Ubxn7 A G 16: 32,384,925 E465G probably damaging Het
Unk G A 11: 116,047,802 R77Q probably damaging Het
Vmn1r226 A T 17: 20,688,289 N261I probably benign Het
Vmn1r87 T A 7: 13,131,959 K134* probably null Het
Vmn2r10 T A 5: 108,996,078 I669L probably benign Het
Vmn2r115 A G 17: 23,346,032 I298V probably benign Het
Yipf2 T C 9: 21,589,848 K85E probably damaging Het
Zfp979 A T 4: 147,613,626 C209S probably benign Het
Other mutations in Acbd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01595:Acbd5 APN 2 23078169 missense probably damaging 1.00
IGL02343:Acbd5 APN 2 23087495 missense possibly damaging 0.89
IGL03087:Acbd5 APN 2 23089710 missense probably benign
R0723:Acbd5 UTSW 2 23069596 missense probably damaging 1.00
R1428:Acbd5 UTSW 2 23099721 missense probably damaging 0.99
R1610:Acbd5 UTSW 2 23090551 missense probably damaging 1.00
R1623:Acbd5 UTSW 2 23094344 missense probably damaging 1.00
R2918:Acbd5 UTSW 2 23099567 missense probably benign 0.00
R4736:Acbd5 UTSW 2 23099584 missense probably damaging 0.96
R5369:Acbd5 UTSW 2 23112510 missense probably damaging 0.96
R6207:Acbd5 UTSW 2 23069478 missense possibly damaging 0.58
Predicted Primers
Posted On2018-06-22