Mutagenetix > Incidental Mutation

Incidental Mutation 'R1263:Acbd4'

262746

Institutional Source

Beutler Lab

Gene Symbol

Acbd4

Ensembl Gene

ENSMUSG00000056938

Gene Name

acyl-Coenzyme A binding domain containing 4

Synonyms

2010015A21Rik, 2010009P05Rik

MMRRC Submission

039330-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.722) question?

Stock #

R1263 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

102992524-103003026 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 102994677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024492 (fasta)

Gene Model

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

AlphaFold

E9Q289

Predicted Effect

probably null
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 null
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: ENSMUST00000161013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142630

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162338

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139374

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

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: ENSMUST00000152971

SMART Domains

Protein: ENSMUSP00000118886
Gene: ENSMUSG00000056938

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	C	11: 109,832,433 (GRCm39)	H1231Q	possibly damaging	Het
Atp13a4	T	A	16: 29,290,771 (GRCm39)	Y226F	possibly damaging	Het
Brd3	A	C	2: 27,352,534 (GRCm39)	F132C	probably damaging	Het
Btaf1	A	T	19: 36,933,924 (GRCm39)	N184I	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Ccdc185	A	T	1: 182,574,918 (GRCm39)	Y590*	probably null	Het
Chi3l1	G	A	1: 134,116,980 (GRCm39)	E315K	probably benign	Het
Col6a6	T	A	9: 105,586,688 (GRCm39)	M1778L	probably benign	Het
Cyp3a59	A	C	5: 146,041,521 (GRCm39)	Y355S	probably damaging	Het
Cyp4a31	A	G	4: 115,431,908 (GRCm39)	T396A	probably benign	Het
Dnaaf6rt	A	T	1: 31,262,296 (GRCm39)	I93F	probably damaging	Het
Dnah6	A	T	6: 73,121,948 (GRCm39)	I1373N	probably damaging	Het
Dop1b	C	A	16: 93,574,274 (GRCm39)	H1598N	probably benign	Het
Erich4	T	A	7: 25,314,559 (GRCm39)	K118M	probably damaging	Het
Gkap1	A	T	13: 58,403,587 (GRCm39)	V179E	probably benign	Het
Gpr107	T	G	2: 31,068,267 (GRCm39)	I243S	possibly damaging	Het
Hs3st6	A	G	17: 24,977,504 (GRCm39)	N328S	probably damaging	Het
Kcnq5	A	T	1: 21,549,602 (GRCm39)	I375N	probably damaging	Het
Klhdc3	A	T	17: 46,987,892 (GRCm39)	H266Q	probably benign	Het
Krt71	C	T	15: 101,643,901 (GRCm39)	G446R	probably damaging	Het
L3mbtl2	A	G	15: 81,567,169 (GRCm39)	T423A	probably benign	Het
Mical3	T	C	6: 120,929,430 (GRCm39)	E1812G	probably damaging	Het
Nlrp1a	A	G	11: 70,987,948 (GRCm39)	I1174T	probably benign	Het
Npas2	C	A	1: 39,373,849 (GRCm39)	Q450K	possibly damaging	Het
Nrp1	T	A	8: 129,194,870 (GRCm39)	I442N	probably damaging	Het
Or1j10	T	A	2: 36,267,006 (GRCm39)	S73T	probably damaging	Het
Or2y1	A	T	11: 49,385,848 (GRCm39)	M163L	probably benign	Het
Palld	TGCGTAGCG	TGCG	8: 61,966,491 (GRCm39)		probably null	Het
Pold3	T	A	7: 99,768,890 (GRCm39)	Q36L	possibly damaging	Het
Polg	T	C	7: 79,109,534 (GRCm39)	T428A	probably benign	Het
Rfx7	T	A	9: 72,484,329 (GRCm39)	V57E	possibly damaging	Het
Rnf122	T	G	8: 31,602,177 (GRCm39)	M1R	probably null	Het
Sanbr	A	T	11: 23,570,278 (GRCm39)	Y207*	probably null	Het
Scn10a	T	A	9: 119,446,799 (GRCm39)	T1410S	probably damaging	Het
Serpinb13	T	A	1: 106,928,466 (GRCm39)	V362E	probably damaging	Het
Setdb1	T	C	3: 95,234,922 (GRCm39)	N927S	probably damaging	Het
Sft2d1	A	G	17: 8,539,470 (GRCm39)	K91R	probably benign	Het
Shprh	A	G	10: 11,035,274 (GRCm39)	H327R	probably damaging	Het
Slc9b2	C	A	3: 135,042,156 (GRCm39)	H478Q	probably benign	Het
Styxl1	G	T	5: 135,782,737 (GRCm39)	S117R	probably damaging	Het
Synj2	T	C	17: 6,069,634 (GRCm39)	F150L	probably damaging	Het
Tep1	C	A	14: 51,082,970 (GRCm39)	V1013L	possibly damaging	Het
Tgfbi	T	A	13: 56,778,468 (GRCm39)	L413Q	probably damaging	Het
Tmc5	G	A	7: 118,266,093 (GRCm39)	R789Q	probably damaging	Het
Tonsl	T	A	15: 76,506,762 (GRCm39)	I115F	possibly damaging	Het
Trim38	A	G	13: 23,975,117 (GRCm39)	Y352C	probably damaging	Het
Txnl4a	T	A	18: 80,250,536 (GRCm39)	V44D	probably benign	Het
Vars2	A	G	17: 35,972,501 (GRCm39)	V39A	probably damaging	Het
Vmn2r105	A	G	17: 20,428,584 (GRCm39)	C831R	probably damaging	Het
Vmn2r26	T	A	6: 124,027,667 (GRCm39)	I469N	probably benign	Het
Vmn2r53	T	C	7: 12,315,533 (GRCm39)	Y762C	probably benign	Het
Vps13d	T	A	4: 144,896,918 (GRCm39)	Q334L	probably benign	Het
Zfp277	A	T	12: 40,414,164 (GRCm39)	I227N	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
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
R7030:Acbd4	UTSW	11	102,994,985 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-04