Incidental Mutation 'R1624:Acbd4'
ID 174911
Institutional Source Beutler Lab
Gene Symbol Acbd4
Ensembl Gene ENSMUSG00000056938
Gene Name acyl-Coenzyme A binding domain containing 4
Synonyms 2010015A21Rik, 2010009P05Rik
MMRRC Submission 039661-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.763) question?
Stock # R1624 (G1)
Quality Score 92
Status Validated
Chromosome 11
Chromosomal Location 102992524-103003026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102994785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 48 (T48A)
Ref Sequence ENSEMBL: ENSMUSP00000024492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024492] [ENSMUST00000092559] [ENSMUST00000103077] [ENSMUST00000107040] [ENSMUST00000129870] [ENSMUST00000134884] [ENSMUST00000140372] [ENSMUST00000152971]
AlphaFold E9Q289
Predicted Effect probably damaging
Transcript: ENSMUST00000024492
AA Change: T48A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000024492
Gene: ENSMUSG00000056938
AA Change: T48A

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 damaging
Transcript: ENSMUST00000092559
AA Change: T48A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090220
Gene: ENSMUSG00000056938
AA Change: T48A

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
SMART Domains Protein: ENSMUSP00000102655
Gene: ENSMUSG00000056938

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 damaging
Transcript: ENSMUST00000129870
AA Change: T48A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116755
Gene: ENSMUSG00000056938
AA Change: T48A

DomainStartEndE-ValueType
Pfam:ACBP 10 81 1e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130749
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139374
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161013
Predicted Effect probably benign
Transcript: ENSMUST00000134884
SMART Domains Protein: ENSMUSP00000120031
Gene: ENSMUSG00000056938

DomainStartEndE-ValueType
PDB:2WH5|F 7 55 5e-18 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000140372
SMART Domains Protein: ENSMUSP00000115521
Gene: ENSMUSG00000056938

DomainStartEndE-ValueType
PDB:2WH5|F 7 66 1e-23 PDB
low complexity region 109 129 N/A INTRINSIC
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: ENSMUST00000162338
Meta Mutation Damage Score 0.4691 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 99% (90/91)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T C 16: 21,472,496 (GRCm39) Y68C probably damaging Het
6820408C15Rik A T 2: 152,276,031 (GRCm39) H81L probably damaging Het
Acp3 T A 9: 104,197,200 (GRCm39) E146D probably benign Het
Acsm1 T A 7: 119,251,796 (GRCm39) I307N probably damaging Het
Adcy4 T C 14: 56,019,384 (GRCm39) T89A possibly damaging Het
Agl T C 3: 116,580,895 (GRCm39) T356A probably benign Het
Ago1 A G 4: 126,357,534 (GRCm39) I47T probably damaging Het
Akr1c6 T A 13: 4,496,363 (GRCm39) Y75N probably benign Het
Anxa2 T A 9: 69,386,990 (GRCm39) S92T probably benign Het
Arid4b T C 13: 14,358,979 (GRCm39) S585P probably damaging Het
Arl4d T C 11: 101,557,842 (GRCm39) S123P possibly damaging Het
Atad2 A T 15: 57,963,415 (GRCm39) D1067E probably damaging Het
Brap C A 5: 121,820,922 (GRCm39) T403K possibly damaging Het
Brwd1 A T 16: 95,809,344 (GRCm39) N1895K possibly damaging Het
Ccdc187 T C 2: 26,171,087 (GRCm39) T464A probably benign Het
Ccn6 G A 10: 39,029,239 (GRCm39) R230W probably damaging Het
Cdh11 T C 8: 103,391,233 (GRCm39) probably benign Het
Chd9 A T 8: 91,725,163 (GRCm39) Y691F probably benign Het
Clhc1 A T 11: 29,519,287 (GRCm39) I365F possibly damaging Het
Col11a1 A G 3: 113,951,804 (GRCm39) Q1078R probably damaging Het
Creb3 G A 4: 43,566,375 (GRCm39) V294I possibly damaging Het
Cspg4 T C 9: 56,795,754 (GRCm39) I1163T probably damaging Het
Cyp3a57 A C 5: 145,327,225 (GRCm39) probably null Het
Dnah3 A T 7: 119,618,918 (GRCm39) I1661N probably damaging Het
Dpysl4 A C 7: 138,669,469 (GRCm39) D49A probably damaging Het
Efhb T A 17: 53,733,306 (GRCm39) I522F probably damaging Het
Epha4 T C 1: 77,376,329 (GRCm39) T517A probably damaging Het
Fasn A G 11: 120,703,937 (GRCm39) S1466P probably damaging Het
Fgd6 A T 10: 93,973,298 (GRCm39) D1253V probably benign Het
Fjx1 G A 2: 102,281,509 (GRCm39) A142V probably benign Het
Foxb1 T C 9: 69,666,598 (GRCm39) T311A probably benign Het
Fpgs A G 2: 32,581,200 (GRCm39) probably null Het
Gm10024 A G 10: 77,547,606 (GRCm39) probably null Het
Gnat3 A T 5: 18,208,841 (GRCm39) T182S possibly damaging Het
Igsf3 T A 3: 101,362,543 (GRCm39) F875I probably benign Het
Kif13b A G 14: 64,976,068 (GRCm39) E461G probably damaging Het
Kif23 A T 9: 61,832,982 (GRCm39) probably null Het
Kntc1 G A 5: 123,896,540 (GRCm39) R134Q possibly damaging Het
Krt33a A T 11: 99,905,072 (GRCm39) Y145N probably damaging Het
Lama5 A G 2: 179,848,551 (GRCm39) V313A probably benign Het
Lamb1 T C 12: 31,328,651 (GRCm39) probably null Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mtor C T 4: 148,632,133 (GRCm39) L2336F probably damaging Het
Naglu T C 11: 100,967,351 (GRCm39) S434P probably damaging Het
Ncoa7 T A 10: 30,580,655 (GRCm39) H101L possibly damaging Het
Nlrc4 G A 17: 74,752,184 (GRCm39) T733I possibly damaging Het
Nr3c2 A G 8: 77,636,573 (GRCm39) E558G probably damaging Het
Nsun4 A T 4: 115,891,397 (GRCm39) N327K probably benign Het
Or11g27 A G 14: 50,771,100 (GRCm39) Y77C probably damaging Het
Or1x2 T C 11: 50,917,952 (GRCm39) V41A probably damaging Het
Or2m13 T A 16: 19,226,454 (GRCm39) Y104F probably benign Het
Or4f6 T A 2: 111,838,877 (GRCm39) Y218F probably damaging Het
Or6b13 T C 7: 139,781,864 (GRCm39) N273S probably damaging Het
Pdia2 T A 17: 26,415,495 (GRCm39) I441F probably damaging Het
Phyh T C 2: 4,930,494 (GRCm39) S74P probably benign Het
Pigo A G 4: 43,024,661 (GRCm39) L146P probably damaging Het
Plce1 A G 19: 38,713,219 (GRCm39) D1191G probably damaging Het
Plrg1 T C 3: 82,975,301 (GRCm39) probably benign Het
Plrg1 G A 3: 82,977,051 (GRCm39) R364Q probably damaging Het
Polr3b T C 10: 84,515,669 (GRCm39) L614S probably damaging Het
Pramel16 A T 4: 143,676,400 (GRCm39) C235S possibly damaging Het
Prrg4 A G 2: 104,663,027 (GRCm39) V193A probably damaging Het
Prss16 T A 13: 22,187,483 (GRCm39) E47V probably benign Het
Ptpru G A 4: 131,499,861 (GRCm39) T1261I probably damaging Het
Pycard A G 7: 127,591,970 (GRCm39) S124P possibly damaging Het
Riok1 C A 13: 38,221,487 (GRCm39) D17E probably damaging Het
Scin T A 12: 40,177,929 (GRCm39) Y102F probably benign Het
Scmh1 A G 4: 120,386,425 (GRCm39) H655R probably damaging Het
Scyl2 A T 10: 89,476,598 (GRCm39) N842K probably benign Het
Sec23b T A 2: 144,409,049 (GRCm39) M211K probably benign Het
Serpina3i A C 12: 104,234,897 (GRCm39) *409C probably null Het
Sgk2 G A 2: 162,839,779 (GRCm39) R129H probably benign Het
Slc39a13 A G 2: 90,898,871 (GRCm39) I80T probably damaging Het
Smarcad1 A G 6: 65,029,631 (GRCm39) D73G probably benign Het
Spata18 A C 5: 73,826,888 (GRCm39) T276P probably damaging Het
Srgap1 T G 10: 121,691,278 (GRCm39) M319L probably benign Het
Stx7 T A 10: 24,060,903 (GRCm39) V210E probably damaging Het
Tjp2 T A 19: 24,108,776 (GRCm39) H112L probably benign Het
Tuba8 A T 6: 121,197,385 (GRCm39) I16F probably damaging Het
Ube3c G A 5: 29,851,617 (GRCm39) A815T probably benign Het
Vmn2r5 A T 3: 64,417,116 (GRCm39) V14E probably benign Het
Vmn2r79 A T 7: 86,653,247 (GRCm39) probably null Het
Zdbf2 A G 1: 63,343,018 (GRCm39) T466A possibly damaging Het
Other mutations in Acbd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
FR4304:Acbd4 UTSW 11 102,994,931 (GRCm39) nonsense probably null
R0089:Acbd4 UTSW 11 102,994,819 (GRCm39) missense probably damaging 1.00
R0133:Acbd4 UTSW 11 102,996,214 (GRCm39) missense probably damaging 0.96
R1263:Acbd4 UTSW 11 102,994,677 (GRCm39) splice site probably null
R2105:Acbd4 UTSW 11 102,995,265 (GRCm39) missense probably damaging 1.00
R4505:Acbd4 UTSW 11 102,995,605 (GRCm39) intron probably benign
R4689:Acbd4 UTSW 11 102,996,194 (GRCm39) missense possibly damaging 0.89
R7025:Acbd4 UTSW 11 102,995,364 (GRCm39) missense probably damaging 1.00
R7030:Acbd4 UTSW 11 102,994,985 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCGACCCCGAGATGAGATGAAAC -3'
(R):5'- GAGATGTAGGCAGACATGGCTTCC -3'

Sequencing Primer
(F):5'- GCCTGTACCCTGCAAATGTTG -3'
(R):5'- AGACATGGCTTCCTCCCTG -3'
Posted On 2014-04-24