Mutagenetix > Incidental Mutation

Incidental Mutation 'R4505:Acbd4'

331984

Institutional Source

Beutler Lab

Gene Symbol

Acbd4

Ensembl Gene

ENSMUSG00000056938

Gene Name

acyl-Coenzyme A binding domain containing 4

Synonyms

2010015A21Rik, 2010009P05Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.722) question?

Stock #

R4505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102992524-103003026 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 102995605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024492] [ENSMUST00000092559] [ENSMUST00000103077] [ENSMUST00000107040] [ENSMUST00000129870] [ENSMUST00000152971] [ENSMUST00000134884] [ENSMUST00000140372]

AlphaFold

E9Q289

Predicted Effect

probably benign
Transcript: ENSMUST00000024492

SMART Domains

Protein: ENSMUSP00000024492
Gene: ENSMUSG00000056938

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:ACBP	10	81	1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103077

SMART Domains

Protein: ENSMUSP00000099366
Gene: ENSMUSG00000020937

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:ACBP	10	81	1e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139374

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161013

Predicted Effect

probably benign
Transcript: ENSMUST00000152971

SMART Domains

Protein: ENSMUSP00000118886
Gene: ENSMUSG00000056938

Domain	Start	End	E-Value	Type
PDB:2WH5\|F	7	66	1e-24	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000134884

SMART Domains

Protein: ENSMUSP00000120031
Gene: ENSMUSG00000056938

Domain	Start	End	E-Value	Type
PDB:2WH5\|F	7	55	5e-18	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000140372

SMART Domains

Protein: ENSMUSP00000115521
Gene: ENSMUSG00000056938

Domain	Start	End	E-Value	Type
PDB:2WH5\|F	7	66	1e-23	PDB
low complexity region	109	129	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (50/52)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,152,445 (GRCm39)	I1367N	probably damaging	Het
Adarb2	A	T	13: 8,747,727 (GRCm39)	S428C	probably damaging	Het
Atl3	T	A	19: 7,498,184 (GRCm39)	D193E	probably benign	Het
Bhlhe22	T	C	3: 18,109,123 (GRCm39)	S58P	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
Epha10	A	G	4: 124,809,480 (GRCm39)		probably benign	Het
Farp2	A	T	1: 93,546,732 (GRCm39)	N917I	probably damaging	Het
Fbh1	A	G	2: 11,753,828 (GRCm39)	V838A	possibly damaging	Het
Fras1	T	A	5: 96,929,207 (GRCm39)	N3870K	probably damaging	Het
Gm6632	C	T	5: 59,211,821 (GRCm39)		noncoding transcript	Het
Gpr20	T	C	15: 73,568,321 (GRCm39)	T23A	probably benign	Het
Grb14	A	C	2: 64,852,912 (GRCm39)	V26G	probably damaging	Het
H2-T5	A	T	17: 36,472,372 (GRCm39)		probably benign	Het
Itgb4	G	A	11: 115,874,087 (GRCm39)		silent	Het
Jak1	T	C	4: 101,011,800 (GRCm39)	T1101A	probably benign	Het
Kcnq3	A	T	15: 65,867,191 (GRCm39)	Y817*	probably null	Het
Krtcap2	A	G	3: 89,153,563 (GRCm39)		probably benign	Het
Lhx5	C	A	5: 120,578,073 (GRCm39)	H298N	possibly damaging	Het
Lrig3	C	T	10: 125,849,216 (GRCm39)	P979S	probably benign	Het
Map3k13	A	G	16: 21,740,928 (GRCm39)	S752G	probably benign	Het
Map4	T	C	9: 109,861,253 (GRCm39)	S206P	probably benign	Het
Mon2	A	G	10: 122,845,494 (GRCm39)	S1405P	probably damaging	Het
Mvb12a	G	T	8: 71,996,103 (GRCm39)	A86S	probably benign	Het
Or5p62	T	C	7: 107,771,175 (GRCm39)	I259V	probably benign	Het
Or8a1b	C	T	9: 37,622,760 (GRCm39)	V272I	probably benign	Het
Pithd1	T	C	4: 135,706,144 (GRCm39)	N37S	probably benign	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Prb1a	T	A	6: 132,184,533 (GRCm39)	R367*	probably null	Het
Psmb4	A	C	3: 94,793,456 (GRCm39)	Y142D	probably damaging	Het
Ptprs	T	C	17: 56,758,678 (GRCm39)	N181S	possibly damaging	Het
Rcbtb2	T	C	14: 73,411,345 (GRCm39)	L370P	probably damaging	Het
Ric8a	A	G	7: 140,438,429 (GRCm39)	I223V	probably benign	Het
Runx1t1	G	T	4: 13,889,676 (GRCm39)	C535F	probably damaging	Het
Samd4b	A	G	7: 28,106,925 (GRCm39)	M329T	probably benign	Het
Serpinb9g	T	A	13: 33,670,546 (GRCm39)	F11L	probably damaging	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
Sp110	T	G	1: 85,516,894 (GRCm39)	Q201P	probably damaging	Het
Taar3	A	G	10: 23,825,471 (GRCm39)	I6V	possibly damaging	Het
Tjp2	T	C	19: 24,086,195 (GRCm39)	T776A	possibly damaging	Het
Tmc1	C	T	19: 20,845,738 (GRCm39)	V162I	probably benign	Het
Upf1	G	A	8: 70,790,216 (GRCm39)	R637C	probably damaging	Het
Ush2a	A	G	1: 188,460,793 (GRCm39)	T2685A	possibly damaging	Het
Vmn2r102	C	T	17: 19,880,845 (GRCm39)	T62I	probably benign	Het
Vps13c	A	T	9: 67,846,316 (GRCm39)	Q2128L	probably benign	Het
Zfp26	T	C	9: 20,353,561 (GRCm39)	E76G	probably benign	Het
Zfp28	T	C	7: 6,397,160 (GRCm39)	S532P	probably damaging	Het

Other mutations in Acbd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- CAGAATGGGAGCCCTGATAAC -3'
(R):5'- ACAGCATGGCATCCAGCTTC -3'

Sequencing Primer
(F):5'- CAATAGAGTGAACTGTCTCGGGTC -3'
(R):5'- ATGGCATCCAGCTTCTCCTC -3'

Posted On

2015-07-21