Incidental Mutation 'R3888:Acbd6'
ID312844
Institutional Source Beutler Lab
Gene Symbol Acbd6
Ensembl Gene ENSMUSG00000033701
Gene Nameacyl-Coenzyme A binding domain containing 6
Synonyms0610010G04Rik, 2610100E10Rik
MMRRC Submission 040800-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #R3888 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location155558120-155691330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 155624897 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 201 (D201G)
Ref Sequence ENSEMBL: ENSMUSP00000049124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035560]
Predicted Effect probably damaging
Transcript: ENSMUST00000035560
AA Change: D201G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049124
Gene: ENSMUSG00000033701
AA Change: D201G

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 noncoding transcript
Transcript: ENSMUST00000194476
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,940,551 probably null Het
Adam17 G A 12: 21,325,587 R744C probably damaging Het
Adss A G 1: 177,767,769 Y402H probably damaging Het
Ano3 T A 2: 110,885,000 K31I probably damaging Het
B930094E09Rik G A 18: 31,609,689 S59N unknown Het
Cmya5 T G 13: 93,093,656 R1641S probably benign Het
Cps1 C A 1: 67,165,500 T493K possibly damaging Het
Dmxl1 T A 18: 49,878,259 M1161K probably damaging Het
Etl4 C T 2: 20,529,961 Q76* probably null Het
Fn1 T C 1: 71,640,306 Y511C probably damaging Het
Foxd2 T C 4: 114,908,286 H179R unknown Het
Frem1 T C 4: 82,913,607 R1991G probably benign Het
Gimap7 G A 6: 48,723,845 E122K probably benign Het
Hps3 A G 3: 20,003,223 probably null Het
Kctd2 A T 11: 115,427,519 K209N probably damaging Het
Lcor T A 19: 41,558,356 S126R probably damaging Het
Lct T C 1: 128,304,226 M629V probably damaging Het
Lrp5 G A 19: 3,612,330 R173C probably damaging Het
Muc5ac T C 7: 141,791,224 V144A possibly damaging Het
Mypn T C 10: 63,192,510 Y258C probably damaging Het
Ntf3 T C 6: 126,102,442 M21V probably benign Het
Olfr1243 T A 2: 89,527,732 H226L possibly damaging Het
Olfr1447 A T 19: 12,901,133 C216S probably benign Het
Olfr802 G A 10: 129,682,218 H174Y possibly damaging Het
Olfr802 A T 10: 129,682,219 D173E probably benign Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rbm45 A G 2: 76,375,424 S207G probably benign Het
Robo3 G A 9: 37,422,181 Q723* probably null Het
Rreb1 G T 13: 37,893,965 R51L probably damaging Het
Slc12a6 T A 2: 112,267,030 L70Q possibly damaging Het
Slc15a2 A G 16: 36,782,304 F65S probably damaging Het
Slitrk5 T A 14: 111,679,797 C284* probably null Het
Smim17 G T 7: 6,429,280 G74C probably damaging Het
Snapc4 G A 2: 26,365,498 Q1005* probably null Het
Suv39h2 G A 2: 3,464,808 T170I probably benign Het
Thrb A G 14: 18,033,551 K424R probably damaging Het
Tm4sf4 C T 3: 57,437,745 Q191* probably null Het
Trak1 G T 9: 121,442,797 probably null Het
Ttn A G 2: 76,710,274 S25796P probably damaging Het
Ugp2 T C 11: 21,353,366 R80G probably benign Het
Utp15 C T 13: 98,259,166 V103I probably benign Het
Wdr3 A T 3: 100,153,906 S249T probably benign Het
Zeb1 T A 18: 5,748,743 D86E 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
R3731:Acbd6 UTSW 1 155558725 missense probably benign 0.24
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
R8762:Acbd6 UTSW 1 155686960 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGAAGTAGAGCTCAGGGC -3'
(R):5'- ATAGCAGGGCCTTCAGTGAC -3'

Sequencing Primer
(F):5'- AGGGCTTCCTGCTGCTTGTC -3'
(R):5'- TGTGGCACTGTACACACATG -3'
Posted On2015-04-30