Incidental Mutation 'R4689:Acbd4'
ID354784
Institutional Source Beutler Lab
Gene Symbol Acbd4
Ensembl Gene ENSMUSG00000056938
Gene Nameacyl-Coenzyme A binding domain containing 4
Synonyms
MMRRC Submission 041940-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.804) question?
Stock #R4689 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location103101682-103112200 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103105368 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 165 (L165P)
Ref Sequence ENSEMBL: ENSMUSP00000115521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024492] [ENSMUST00000092559] [ENSMUST00000103077] [ENSMUST00000107040] [ENSMUST00000129870] [ENSMUST00000134884] [ENSMUST00000140372] [ENSMUST00000152971]
Predicted Effect probably benign
Transcript: ENSMUST00000024492
AA Change: L205P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000024492
Gene: ENSMUSG00000056938
AA Change: L205P

DomainStartEndE-ValueType
Pfam:ACBP 11 93 5.6e-27 PFAM
low complexity region 149 169 N/A INTRINSIC
low complexity region 239 254 N/A INTRINSIC
transmembrane domain 296 318 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000092559
SMART Domains Protein: ENSMUSP00000090220
Gene: ENSMUSG00000056938

DomainStartEndE-ValueType
Pfam:ACBP 10 81 1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103077
SMART Domains Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
low complexity region 23 38 N/A INTRINSIC
PH 61 170 4.07e-5 SMART
Pfam:EF-hand_10 197 246 1.8e-27 PFAM
Pfam:EF-hand_like 251 332 2.6e-24 PFAM
PLCXc 333 478 7.75e-85 SMART
low complexity region 495 512 N/A INTRINSIC
PLCYc 524 640 3.96e-50 SMART
C2 657 763 1.05e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107040
AA Change: L165P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102655
Gene: ENSMUSG00000056938
AA Change: L165P

DomainStartEndE-ValueType
PDB:2WH5|F 7 66 1e-22 PDB
low complexity region 109 129 N/A INTRINSIC
low complexity region 199 214 N/A INTRINSIC
transmembrane domain 256 278 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124965
Predicted Effect probably benign
Transcript: ENSMUST00000129870
SMART Domains Protein: ENSMUSP00000116755
Gene: ENSMUSG00000056938

DomainStartEndE-ValueType
Pfam:ACBP 10 81 1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130749
Predicted Effect probably benign
Transcript: ENSMUST00000134884
SMART Domains Protein: ENSMUSP00000120031
Gene: ENSMUSG00000056938

DomainStartEndE-ValueType
PDB:2WH5|F 7 55 5e-18 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139374
Predicted Effect possibly damaging
Transcript: ENSMUST00000140372
AA Change: L165P

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115521
Gene: ENSMUSG00000056938
AA Change: L165P

DomainStartEndE-ValueType
PDB:2WH5|F 7 66 1e-23 PDB
low complexity region 109 129 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150780
Predicted Effect probably benign
Transcript: ENSMUST00000152971
SMART Domains Protein: ENSMUSP00000118886
Gene: ENSMUSG00000056938

DomainStartEndE-ValueType
PDB:2WH5|F 7 66 1e-24 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161013
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162338
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 97% (72/74)
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 domain containing protein family. All family members contain the conserved acyl-Coenzyme A binding domain, which binds acyl-CoA thiol esters. They are thought to play roles in acyl-CoA dependent lipid metabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,324,070 V336L probably benign Het
Adam10 T C 9: 70,765,954 S456P possibly damaging Het
Adgre4 T C 17: 55,802,096 F368L probably damaging Het
Ahcyl1 G T 3: 107,665,518 Y528* probably null Het
Aldh3b3 G A 19: 3,964,516 V84M probably damaging Het
Cdca8 C T 4: 124,931,103 G78E probably damaging Het
Cry2 T C 2: 92,424,554 D152G probably benign Het
Cyp2c67 T C 19: 39,638,588 Y266C probably benign Het
Dkk4 T C 8: 22,625,320 F62S probably benign Het
Dnah12 G A 14: 26,706,839 V207I probably benign Het
Dthd1 T C 5: 62,842,912 C526R probably damaging Het
Dubr A T 16: 50,732,503 noncoding transcript Het
F5 T C 1: 164,151,973 probably benign Het
Flcn A C 11: 59,801,044 W260G possibly damaging Het
Fmnl1 G A 11: 103,193,736 probably null Het
Frem2 A T 3: 53,547,635 D2173E probably benign Het
Fstl4 C T 11: 53,068,650 Q173* probably null Het
Gfra3 G A 18: 34,690,587 P381S unknown Het
Gm28308 C A 6: 52,213,311 probably benign Het
Gm8394 T A 10: 85,314,201 noncoding transcript Het
Gm8730 T A 8: 102,865,747 noncoding transcript Het
Gzmd T C 14: 56,131,226 probably null Het
Hexb A G 13: 97,181,092 Y366H probably damaging Het
Hydin A T 8: 110,595,414 H4566L probably benign Het
Ifi213 G A 1: 173,590,420 T142I possibly damaging Het
Kif13b T A 14: 64,773,064 C1271S probably damaging Het
Krtap9-5 G T 11: 99,949,460 C329F unknown Het
Larp1 G T 11: 58,041,613 G207W probably damaging Het
Lfng A G 5: 140,614,439 D368G probably damaging Het
Mbd5 G A 2: 49,258,279 V834I possibly damaging Het
Mterf1b T A 5: 4,197,263 Y301* probably null Het
Myh7b T C 2: 155,630,514 I1305T possibly damaging Het
Myo16 T C 8: 10,438,890 V687A probably damaging Het
Naip2 A T 13: 100,148,812 I1292N probably damaging Het
Nmral1 A G 16: 4,714,558 F130L probably damaging Het
Nos1 A G 5: 117,879,385 N271S probably benign Het
Nrap A G 19: 56,386,026 S23P probably damaging Het
Olfr106-ps A T 17: 37,394,771 N77I probably damaging Het
Olfr1509 T C 14: 52,451,214 I267T probably benign Het
Olfr169 A T 16: 19,566,513 Y123* probably null Het
Olfr800 T C 10: 129,660,316 V170A probably benign Het
Pkdcc C G 17: 83,215,861 C132W probably damaging Het
Plekhg6 G A 6: 125,373,181 L265F probably benign Het
Prkaa1 A G 15: 5,178,696 T473A probably benign Het
Prpf3 G A 3: 95,836,489 Q451* probably null Het
Ptprh T A 7: 4,597,997 D127V possibly damaging Het
Rab36 T C 10: 75,041,933 probably null Het
Rasa1 A T 13: 85,238,163 Y427* probably null Het
Rgs11 T C 17: 26,204,547 probably null Het
Serpinb13 C T 1: 106,982,844 S66L probably damaging Het
Shank2 G A 7: 144,420,605 V1087I probably benign Het
Slc39a10 A C 1: 46,836,013 M43R probably benign Het
Slc40a1 T A 1: 45,912,313 Q228L probably benign Het
Slc45a1 A T 4: 150,638,539 L296Q probably benign Het
Stambpl1 A G 19: 34,236,291 T307A probably benign Het
Stt3a T C 9: 36,732,929 T705A possibly damaging Het
Tec G A 5: 72,823,637 probably benign Het
Trp63 A T 16: 25,865,262 T300S possibly damaging Het
Vmn1r235 A G 17: 21,262,361 H316R probably benign Het
Vmn2r1 A G 3: 64,104,653 H645R possibly damaging Het
Wdfy4 A G 14: 33,109,548 I907T possibly damaging Het
Zcchc10 A G 11: 53,327,324 T33A probably benign Het
Zfp318 T A 17: 46,399,634 V761D probably damaging Het
Zfp358 T C 8: 3,496,146 probably null Het
Zfp661 G A 2: 127,577,548 P224L probably damaging Het
Zfp937 T C 2: 150,236,786 M33T probably damaging Het
Zfp955a T C 17: 33,242,066 H364R probably damaging Het
Other mutations in Acbd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4304:Acbd4 UTSW 11 103104105 nonsense probably null
R0089:Acbd4 UTSW 11 103103993 missense probably damaging 1.00
R0133:Acbd4 UTSW 11 103105388 missense probably damaging 0.96
R1263:Acbd4 UTSW 11 103103851 intron probably null
R1624:Acbd4 UTSW 11 103103959 missense probably damaging 1.00
R2105:Acbd4 UTSW 11 103104439 missense probably damaging 1.00
R4505:Acbd4 UTSW 11 103104779 intron probably benign
R7025:Acbd4 UTSW 11 103104538 missense probably damaging 1.00
R7030:Acbd4 UTSW 11 103104159 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCTGTCCTTCCTACAAGC -3'
(R):5'- CAGCACTGGAATTTTGCTCC -3'

Sequencing Primer
(F):5'- GTCCTTCCTACAAGCCTTCC -3'
(R):5'- AACCTTTGTCCTGACTGGGAGC -3'
Posted On2015-10-21