Incidental Mutation 'R3731:Acbd6'
ID270958
Institutional Source Beutler Lab
Gene Symbol Acbd6
Ensembl Gene ENSMUSG00000033701
Gene Nameacyl-Coenzyme A binding domain containing 6
Synonyms0610010G04Rik, 2610100E10Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #R3731 (G1)
Quality Score203
Status Not validated
Chromosome1
Chromosomal Location155558120-155691330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 155558725 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 30 (S30T)
Ref Sequence ENSEMBL: ENSMUSP00000095136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035560] [ENSMUST00000080138] [ENSMUST00000097529]
Predicted Effect probably benign
Transcript: ENSMUST00000035560
AA Change: S30T

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000049124
Gene: ENSMUSG00000033701
AA Change: S30T

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:ACBP 43 123 1.5e-26 PFAM
low complexity region 130 148 N/A INTRINSIC
ANK 157 187 2.43e3 SMART
ANK 191 220 8.65e-5 SMART
ANK 224 253 8.19e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080138
AA Change: S30T

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079035
Gene: ENSMUSG00000033701
AA Change: S30T

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:ACBP 42 126 1.7e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000097529
AA Change: S30T

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095136
Gene: ENSMUSG00000033701
AA Change: S30T

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:ACBP 42 126 1.7e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194476
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T A 16: 14,609,621 probably null Het
Abcc5 A T 16: 20,398,934 Y5* probably null Het
Adar T C 3: 89,746,655 I325T probably damaging Het
Akap13 T C 7: 75,611,377 S92P probably benign Het
Atp1a4 A T 1: 172,233,961 V771E probably damaging Het
BC030867 A G 11: 102,257,906 E381G possibly damaging Het
Cfh A G 1: 140,119,970 S492P possibly damaging Het
Crlf1 A G 8: 70,499,442 T95A probably benign Het
Dennd2d T G 3: 106,499,955 F441V probably damaging Het
Dhx33 T C 11: 70,989,152 D344G probably benign Het
Disp3 A G 4: 148,252,827 S844P probably benign Het
Dock2 T C 11: 34,708,895 K286E probably damaging Het
Fam228a T C 12: 4,718,671 E203G probably benign Het
Fbxo38 GTGCTGCTGCTGCTGCTGCTGC GTGCTGCTGCTGCTGCTGC 18: 62,515,328 probably benign Het
Frmpd4 G A X: 167,486,807 T493M probably damaging Het
Galnt13 A G 2: 54,933,507 N365S possibly damaging Het
Ighv1-19 C A 12: 114,708,877 C40F probably damaging Het
Ints4 A G 7: 97,506,101 Q320R probably benign Het
Kctd5 T C 17: 24,059,238 D146G probably benign Het
Loxl3 T C 6: 83,050,671 probably null Het
Lrp2 G A 2: 69,464,579 P3465L probably damaging Het
Lrp2 A T 2: 69,534,907 probably null Het
Manba G A 3: 135,554,850 V599I probably benign Het
Mbd6 A G 10: 127,285,768 probably benign Het
Mrc2 G A 11: 105,348,431 probably null Het
Nepn A T 10: 52,404,014 N401Y probably damaging Het
Nol10 A T 12: 17,424,673 K622I probably benign Het
Npas3 T C 12: 53,354,392 I40T probably benign Het
Olfr348 A T 2: 36,786,566 I14F possibly damaging Het
Olfr389 T C 11: 73,776,739 E196G probably benign Het
Olfr498 T C 7: 108,465,426 I34T possibly damaging Het
Olfr710 T A 7: 106,944,477 N175Y probably damaging Het
Olfr733 T A 14: 50,298,505 D268V probably damaging Het
Olfr952 T A 9: 39,427,069 M1L probably benign Het
Phtf1 A G 3: 103,985,779 M120V probably benign Het
Plxna2 A G 1: 194,788,885 Y988C probably benign Het
Rgs12 G A 5: 35,032,251 E658K probably damaging Het
Ripor3 C G 2: 167,992,819 E251Q probably damaging Het
Sec24b T C 3: 130,033,833 K203R possibly damaging Het
Serpina1d T A 12: 103,767,905 N47Y possibly damaging Het
Setx GTGGCT GT 2: 29,154,061 probably null Het
Sirpb1c T C 3: 15,833,123 K184R probably damaging Het
Slc16a10 G C 10: 40,056,624 H314D possibly damaging Het
Upp2 T C 2: 58,755,367 S41P probably benign Het
Vmn1r10 A G 6: 57,113,734 T104A probably damaging Het
Wdhd1 A C 14: 47,247,892 S838R possibly damaging Het
Zer1 A G 2: 30,110,911 V166A probably benign Het
Zfp217 T C 2: 170,114,388 N897D probably benign Het
Zfp960 T A 17: 17,088,371 L449H probably damaging Het
Other mutations in Acbd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1897:Acbd6 UTSW 1 155558818 missense probably damaging 0.96
R2190:Acbd6 UTSW 1 155624906 missense probably damaging 1.00
R2234:Acbd6 UTSW 1 155558708 missense probably damaging 1.00
R2235:Acbd6 UTSW 1 155558708 missense probably damaging 1.00
R3730:Acbd6 UTSW 1 155558725 missense probably benign 0.24
R3888:Acbd6 UTSW 1 155624897 missense probably damaging 1.00
R4349:Acbd6 UTSW 1 155687081 missense probably benign
R4905:Acbd6 UTSW 1 155624923 missense probably benign 0.03
R4983:Acbd6 UTSW 1 155601529 missense probably benign 0.00
R5285:Acbd6 UTSW 1 155558725 missense probably benign 0.24
R5297:Acbd6 UTSW 1 155587458 missense probably benign 0.01
R5955:Acbd6 UTSW 1 155587459 missense probably benign 0.01
R7472:Acbd6 UTSW 1 155587467 nonsense probably null
R7719:Acbd6 UTSW 1 155687012 missense probably damaging 0.99
R7911:Acbd6 UTSW 1 155687004 missense probably damaging 1.00
R7960:Acbd6 UTSW 1 155687020 missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GTGGCAGAATCACCTGAGAC -3'
(R):5'- TTTGGAGGAAACAGCCCACG -3'

Sequencing Primer
(F):5'- TGAGACCGCCAGACAGCTC -3'
(R):5'- GAGGAAACAGCCCACGTCCTC -3'
Posted On2015-03-18