Incidental Mutation 'R7030:Acbd4'
ID 546260
Institutional Source Beutler Lab
Gene Symbol Acbd4
Ensembl Gene ENSMUSG00000056938
Gene Name acyl-Coenzyme A binding domain containing 4
Synonyms 2010015A21Rik, 2010009P05Rik
MMRRC Submission 045131-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.763) question?
Stock # R7030 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 102992524-103003026 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102994985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 50 (L50Q)
Ref Sequence ENSEMBL: ENSMUSP00000115521 (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: L90Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000024492
Gene: ENSMUSG00000056938
AA Change: L90Q

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 damaging
Transcript: ENSMUST00000107040
AA Change: L50Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102655
Gene: ENSMUSG00000056938
AA Change: L50Q

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 probably benign
Transcript: ENSMUST00000129870
SMART Domains Protein: ENSMUSP00000116755
Gene: ENSMUSG00000056938

DomainStartEndE-ValueType
Pfam:ACBP 10 81 1e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134884
AA Change: L50Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120031
Gene: ENSMUSG00000056938
AA Change: L50Q

DomainStartEndE-ValueType
PDB:2WH5|F 7 55 5e-18 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000140372
AA Change: L50Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115521
Gene: ENSMUSG00000056938
AA Change: L50Q

DomainStartEndE-ValueType
PDB:2WH5|F 7 66 1e-23 PDB
low complexity region 109 129 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000152971
AA Change: L50Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118886
Gene: ENSMUSG00000056938
AA Change: L50Q

DomainStartEndE-ValueType
PDB:2WH5|F 7 66 1e-24 PDB
Meta Mutation Damage Score 0.1084 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (92/94)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 G T 4: 144,430,173 (GRCm39) A272D possibly damaging Het
Abr A T 11: 76,350,038 (GRCm39) I347N probably damaging Het
Acsl5 T G 19: 55,261,251 (GRCm39) Y69* probably null Het
Agtpbp1 G A 13: 59,652,108 (GRCm39) T401I probably damaging Het
Ap3m2 C T 8: 23,289,807 (GRCm39) E99K probably damaging Het
Arhgef28 A T 13: 98,124,769 (GRCm39) S504R possibly damaging Het
Arsj T A 3: 126,232,752 (GRCm39) D499E probably damaging Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Camk2b T C 11: 5,939,575 (GRCm39) D232G probably damaging Het
Casc3 C T 11: 98,713,359 (GRCm39) P258S possibly damaging Het
Catspere2 T A 1: 177,845,280 (GRCm39) I100N probably damaging Het
Ccdc80 T A 16: 44,943,252 (GRCm39) N787K possibly damaging Het
Celsr1 C A 15: 85,789,679 (GRCm39) C2653F probably damaging Het
Cep170 T C 1: 176,584,051 (GRCm39) E11G probably damaging Het
Chia1 A C 3: 106,022,641 (GRCm39) N12H probably damaging Het
Chrna4 T C 2: 180,671,334 (GRCm39) T141A probably damaging Het
Col25a1 T C 3: 130,272,671 (GRCm39) probably null Het
Dcstamp A T 15: 39,622,929 (GRCm39) I417F probably damaging Het
Dnah5 A G 15: 28,238,738 (GRCm39) I427V probably benign Het
Dnah5 A G 15: 28,333,208 (GRCm39) E2203G probably benign Het
Dnmt3c A T 2: 153,559,345 (GRCm39) S409C probably damaging Het
Dock6 A T 9: 21,724,375 (GRCm39) M1541K probably damaging Het
Dzip1l C T 9: 99,547,888 (GRCm39) T714I probably benign Het
Exoc6b T C 6: 84,825,807 (GRCm39) R535G probably damaging Het
Fam83h A G 15: 75,876,588 (GRCm39) S250P probably benign Het
Fat4 C T 3: 39,036,107 (GRCm39) T3253I probably damaging Het
Fer1l6 T A 15: 58,501,227 (GRCm39) F1302I probably damaging Het
Fmnl1 T G 11: 103,085,600 (GRCm39) probably benign Het
Gckr C A 5: 31,459,554 (GRCm39) F201L possibly damaging Het
Gm10036 A G 18: 15,966,292 (GRCm39) T148A probably benign Het
Gm5142 G A 14: 59,415,909 (GRCm39) S83F probably benign Het
Gpr37 A T 6: 25,689,004 (GRCm39) V31D possibly damaging Het
Gramd2b A T 18: 56,618,321 (GRCm39) Y207F probably damaging Het
Hr T C 14: 70,801,124 (GRCm39) probably null Het
Igf2r A G 17: 12,952,753 (GRCm39) L231P probably damaging Het
Ighv1-66 A T 12: 115,557,157 (GRCm39) W3R probably damaging Het
Insyn2b T A 11: 34,352,030 (GRCm39) V24E probably damaging Het
Kcnu1 T C 8: 26,408,491 (GRCm39) S101P probably benign Het
Klhl23 T G 2: 69,664,310 (GRCm39) V553G probably damaging Het
Lrp1 T C 10: 127,388,745 (GRCm39) I3235V probably damaging Het
Mb A T 15: 76,900,256 (GRCm39) I57N probably damaging Het
Micu1 T C 10: 59,624,843 (GRCm39) I295T possibly damaging Het
Mink1 G A 11: 70,498,601 (GRCm39) V589I possibly damaging Het
Mndal T C 1: 173,703,160 (GRCm39) K82E probably damaging Het
Mroh1 A C 15: 76,321,517 (GRCm39) K1066T probably benign Het
Muc5b T A 7: 141,396,192 (GRCm39) N149K unknown Het
Myo7b G T 18: 32,104,626 (GRCm39) L1404I probably damaging Het
Nlrc4 A G 17: 74,753,001 (GRCm39) S461P probably damaging Het
Nudt12 A T 17: 59,310,348 (GRCm39) D418E probably benign Het
Or2g7 T A 17: 38,378,948 (GRCm39) D295E probably benign Het
Or5g27 G T 2: 85,409,746 (GRCm39) R54S possibly damaging Het
Pcdha1 A G 18: 37,292,326 (GRCm39) H817R probably damaging Het
Pcdha4 A G 18: 37,087,080 (GRCm39) Y421C probably damaging Het
Pcf11 T C 7: 92,306,886 (GRCm39) D1094G probably benign Het
Pck2 A T 14: 55,785,223 (GRCm39) D427V probably damaging Het
Pclo A G 5: 14,726,421 (GRCm39) T1760A probably benign Het
Pdzk1ip1 T A 4: 114,950,188 (GRCm39) Y83N probably damaging Het
Pgs1 T C 11: 117,893,312 (GRCm39) I213T probably damaging Het
Plin4 T A 17: 56,410,969 (GRCm39) T1021S probably damaging Het
Plxnb1 T A 9: 108,941,375 (GRCm39) I1677N probably damaging Het
Pm20d2 T C 4: 33,174,752 (GRCm39) E378G possibly damaging Het
Prkcq T G 2: 11,231,661 (GRCm39) probably null Het
Psmd2 C T 16: 20,480,883 (GRCm39) P780L probably damaging Het
Pvr A G 7: 19,639,105 (GRCm39) S392P possibly damaging Het
Rad51ap2 G C 12: 11,507,432 (GRCm39) L451F possibly damaging Het
Rbm20 A G 19: 53,823,197 (GRCm39) E598G probably damaging Het
Rho A T 6: 115,912,504 (GRCm39) N123Y possibly damaging Het
Rictor T C 15: 6,737,934 (GRCm39) probably null Het
Rilpl2 T G 5: 124,606,656 (GRCm39) K186T probably damaging Het
Rps6ka4 A C 19: 6,816,992 (GRCm39) L61R probably damaging Het
Sds C A 5: 120,618,890 (GRCm39) Q118K probably benign Het
Septin1 C T 7: 126,816,157 (GRCm39) R91K probably benign Het
Sf3a3 A G 4: 124,616,673 (GRCm39) Y185C probably damaging Het
Shtn1 T C 19: 58,998,266 (GRCm39) M376V possibly damaging Het
Slc6a9 A G 4: 117,714,633 (GRCm39) T189A possibly damaging Het
Slc7a6 T G 8: 106,922,606 (GRCm39) V464G possibly damaging Het
Smg8 T A 11: 86,975,919 (GRCm39) D554V probably damaging Het
Sox8 A G 17: 25,789,082 (GRCm39) probably null Het
Spata31e4 G T 13: 50,857,019 (GRCm39) V886L possibly damaging Het
Spats2l T A 1: 57,918,689 (GRCm39) V41D probably damaging Het
Sult2a3 A T 7: 13,801,493 (GRCm39) F282Y probably damaging Het
Svs3a T G 2: 164,132,091 (GRCm39) Y220D probably damaging Het
Teddm1a T A 1: 153,768,369 (GRCm39) Y278N probably damaging Het
Tlk1 T C 2: 70,552,272 (GRCm39) Y526C probably damaging Het
Tmc3 T A 7: 83,266,025 (GRCm39) probably null Het
Ttn T A 2: 76,596,583 (GRCm39) E20110V probably damaging Het
Tulp4 A G 17: 6,264,941 (GRCm39) D235G probably damaging Het
Usp50 T C 2: 126,622,395 (GRCm39) Y55C possibly damaging Het
Vmn1r224 T C 17: 20,639,789 (GRCm39) L122P probably benign Het
Vmn2r62 A G 7: 42,438,473 (GRCm39) L121P possibly damaging Het
Whrn G T 4: 63,413,368 (GRCm39) probably benign Het
Zer1 G T 2: 30,001,033 (GRCm39) H129Q probably benign Het
Zfand4 G A 6: 116,282,618 (GRCm39) A64T probably benign 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
R1624:Acbd4 UTSW 11 102,994,785 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGCTGCGATTCTACAGCTACTAC -3'
(R):5'- CCACCTCGTATCAGTCAGGATC -3'

Sequencing Primer
(F):5'- TACTACAAGCAGGCTACCATGGG -3'
(R):5'- TCGTATCAGTCAGGATCAAACAG -3'
Posted On 2019-05-13