Incidental Mutation 'R1897:Acbd6'
ID212024
Institutional Source Beutler Lab
Gene Symbol Acbd6
Ensembl Gene ENSMUSG00000033701
Gene Nameacyl-Coenzyme A binding domain containing 6
Synonyms0610010G04Rik, 2610100E10Rik
MMRRC Submission 039917-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #R1897 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location155558120-155691330 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 155558818 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 61 (S61G)
Ref Sequence ENSEMBL: ENSMUSP00000095136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035560] [ENSMUST00000080138] [ENSMUST00000097529]
Predicted Effect probably damaging
Transcript: ENSMUST00000035560
AA Change: S61G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000049124
Gene: ENSMUSG00000033701
AA Change: S61G

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 damaging
Transcript: ENSMUST00000080138
AA Change: S61G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000079035
Gene: ENSMUSG00000033701
AA Change: S61G

DomainStartEndE-ValueType
low complexity region 13 30 N/A INTRINSIC
Pfam:ACBP 42 126 1.7e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000097529
AA Change: S61G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095136
Gene: ENSMUSG00000033701
AA Change: S61G

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 0.2461 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.3%
  • 20x: 92.8%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,784,397 N504S probably benign Het
Adcy3 C T 12: 4,173,450 probably benign Het
Adcyap1r1 A T 6: 55,479,194 H168L probably damaging Het
Adgrd1 A G 5: 129,129,001 E213G probably benign Het
Aldh1l2 G T 10: 83,502,525 T510K probably damaging Het
Apol7e A T 15: 77,717,894 M231L probably benign Het
Asb1 C A 1: 91,546,925 probably null Het
Atf7ip2 C T 16: 10,211,084 P160L probably damaging Het
Atp8a1 A G 5: 67,738,429 L554P probably damaging Het
Ccdc18 A T 5: 108,196,042 M884L probably benign Het
Ccdc93 A G 1: 121,491,212 I499V probably benign Het
Ccl20 A G 1: 83,117,895 D60G probably damaging Het
Cdhr3 T C 12: 33,045,193 T626A possibly damaging Het
Cep250 A G 2: 155,976,095 E789G probably damaging Het
Cmpk2 T C 12: 26,474,047 L281P probably damaging Het
Col6a6 A T 9: 105,785,744 M198K possibly damaging Het
Crocc G A 4: 141,018,736 R1691C probably damaging Het
Csf1 C T 3: 107,748,279 V90M probably damaging Het
Cul2 T G 18: 3,414,164 M86R probably benign Het
Dbndd2 T C 2: 164,488,664 F79S probably damaging Het
Dkk1 G T 19: 30,549,278 N34K possibly damaging Het
Dnah6 T A 6: 73,181,762 L619F probably benign Het
Eif2b5 T C 16: 20,507,037 V588A probably damaging Het
Elf3 A T 1: 135,257,137 Y104N probably damaging Het
Fahd2a T C 2: 127,436,610 D272G probably damaging Het
Fbxw15 A T 9: 109,558,203 C188* probably null Het
Fbxw8 T C 5: 118,128,876 Y174C probably benign Het
Gnl1 C A 17: 35,988,692 P585Q possibly damaging Het
Greb1l T C 18: 10,498,992 S292P probably benign Het
Gsk3b G A 16: 38,217,084 probably null Het
Hcls1 C T 16: 36,962,643 P452L probably damaging Het
Hdlbp A T 1: 93,422,285 probably benign Het
Hecw1 A G 13: 14,377,940 S25P probably damaging Het
Hells T C 19: 38,940,484 V100A probably benign Het
Isl1 C T 13: 116,303,330 E161K probably benign Het
Klra9 G T 6: 130,185,592 N160K possibly damaging Het
Lama4 T C 10: 39,060,186 V619A probably damaging Het
Mpc1 G A 17: 8,296,878 R134Q possibly damaging Het
Myo5c A T 9: 75,292,241 N1377I probably benign Het
Myrf T C 19: 10,218,232 I607V probably benign Het
Olfr123 T G 17: 37,796,184 S247A probably benign Het
Olfr968 A T 9: 39,772,065 I245K probably damaging Het
Pik3c2b A G 1: 133,066,916 D206G possibly damaging Het
Pipox A G 11: 77,882,742 Y228H probably damaging Het
Pitrm1 T A 13: 6,560,095 V401D possibly damaging Het
Plod1 C T 4: 147,926,200 E265K probably damaging Het
Ptpn21 A T 12: 98,680,405 probably null Het
Qars C T 9: 108,514,083 Q7* probably null Het
Rpap2 T A 5: 107,633,095 V479E possibly damaging Het
Rsf1 G A 7: 97,579,910 probably benign Het
Rusc2 A G 4: 43,421,749 Y723C probably damaging Het
Ryr2 A T 13: 11,750,932 M1306K probably benign Het
Sesn3 A C 9: 14,308,645 Y110S probably damaging Het
Sgce C T 6: 4,691,511 V319I probably benign Het
Slc15a5 G T 6: 138,079,764 F51L possibly damaging Het
Slit2 T A 5: 48,238,423 C723S probably damaging Het
Sncaip A G 18: 52,894,790 probably null Het
Snx2 T A 18: 53,197,878 D138E probably damaging Het
Spef2 A T 15: 9,729,654 L126* probably null Het
Stam T C 2: 14,129,026 S195P probably damaging Het
Strn T C 17: 78,682,842 I82V probably benign Het
Synj2 T A 17: 6,022,137 C202* probably null Het
Tecpr2 A G 12: 110,933,247 D683G probably benign Het
Tfec A G 6: 16,835,308 V157A probably damaging Het
Tff1 T G 17: 31,164,938 Q28P probably benign Het
Vmn2r86 A G 10: 130,452,445 Y396H probably damaging Het
Vmn2r87 A T 10: 130,471,960 M803K probably damaging Het
Vmn2r90 A G 17: 17,733,304 K577E probably damaging Het
Vrk1 T C 12: 106,036,540 probably benign Het
Wdr20 A G 12: 110,793,723 T348A probably benign Het
Other mutations in Acbd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R8762:Acbd6 UTSW 1 155686960 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTAGTGAACATGGCCACAC -3'
(R):5'- ATCAGAGAGATTATTCCATGTCCAG -3'

Sequencing Primer
(F):5'- GTGAACATGGCCACACCGTTC -3'
(R):5'- CCAGAATGATGCTATTCTCCAGGG -3'
Posted On2014-06-30