Mutagenetix > Incidental Mutations

Incidental Mutation 'R6275:Acsbg1'

507584

Institutional Source

Beutler Lab

Gene Symbol

Acsbg1

Ensembl Gene

ENSMUSG00000032281

Gene Name

acyl-CoA synthetase bubblegum family member 1

Synonyms

E230019G03Rik, Bgm, Lpd, BG1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R6275 (G1)

Quality Score

201.009

Status

Validated

Chromosome

Chromosomal Location

54604877-54661870 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54609772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 586 (M586L)

Ref Sequence

ENSEMBL: ENSMUSP00000034822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034822]

AlphaFold

Q99PU5

Predicted Effect

probably benign
Transcript: ENSMUST00000034822
AA Change: M586L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034822
Gene: ENSMUSG00000032281
AA Change: M586L

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	106	570	7.9e-101	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display abnormalities in gonadotropin induced changes in testosterone production, Leydig cell morphology and long chain and very long chain fatty acid levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,285,368	D3936G	probably damaging	Het
Abca7	T	A	10: 79,997,791	L30H	probably damaging	Het
Abcb6	T	C	1: 75,172,551		probably null	Het
Ano6	A	T	15: 95,913,433	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,939,749	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,882,311	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,145,663	M144I	probably damaging	Het
Cdca3	C	T	6: 124,832,664		probably null	Het
Ces1h	A	T	8: 93,372,646	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,556,658	P126T	probably benign	Het
Dnah10	A	G	5: 124,785,184	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,667,582	N1147Y	possibly damaging	Het
Ermap	C	T	4: 119,178,550	V414M	probably damaging	Het
Fam13a	A	G	6: 58,954,257	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,918,753	H155R	possibly damaging	Het
Folr1	T	A	7: 101,859,535	N61I	probably damaging	Het
Fsip1	T	C	2: 118,205,102	I431V	probably benign	Het
Gm5039	T	C	12: 88,321,225	D86G	possibly damaging	Het
Gm5493	A	T	17: 22,750,070	E74D	probably benign	Het
Gm6803	T	C	12: 88,018,485	N96S	probably benign	Het
H2-Oa	A	G	17: 34,094,566	D197G	probably benign	Het
Hps1	T	C	19: 42,769,607	E169G	probably null	Het
Il17rc	A	T	6: 113,480,347	M372L	probably benign	Het
Itga10	A	G	3: 96,658,185	S1042G	probably benign	Het
Jchain	A	T	5: 88,521,353	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,327	T211A	probably benign	Het
Mal2	T	C	15: 54,571,639		probably null	Het
Mov10l1	T	A	15: 89,026,620	I1071N	probably damaging	Het
Mpp2	T	A	11: 102,060,969	Y401F	probably damaging	Het
Myh15	A	G	16: 49,145,247	T1172A	probably benign	Het
Olfr635	T	A	7: 103,979,974	S261T	probably damaging	Het
Pcnx	G	T	12: 81,918,607	S516I	probably benign	Het
Pidd1	C	T	7: 141,439,795	A685T	probably damaging	Het
Psg28	A	C	7: 18,430,440	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,438,632		probably benign	Het
Rapgefl1	T	A	11: 98,851,120	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,644,432	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,579,923		probably benign	Het
Sec62	A	G	3: 30,809,836	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,648,720	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,283,650	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc26a11	T	C	11: 119,359,299	F127L	probably benign	Het
Stac3	T	A	10: 127,507,746	Y252*	probably null	Het
Stoml3	G	A	3: 53,507,506	A240T	probably damaging	Het
Tanc1	A	T	2: 59,843,510	H1653L	probably benign	Het
Tll1	A	T	8: 64,051,367	L665*	probably null	Het
Tnr	A	C	1: 159,861,270	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,675,520	D165E	probably benign	Het
Tsc2	A	G	17: 24,600,420	V1185A	probably benign	Het
Tulp4	A	G	17: 6,198,736	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,218,765	M72K	possibly damaging	Het
Usp42	G	A	5: 143,714,972	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,199,991	L659*	probably null	Het

Other mutations in Acsbg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Acsbg1	APN	9	54622428	splice site	probably benign
IGL00757:Acsbg1	APN	9	54622719	missense	possibly damaging	0.53
IGL01665:Acsbg1	APN	9	54622720	missense	probably benign
IGL02213:Acsbg1	APN	9	54615970	missense	probably damaging	0.98
R0388:Acsbg1	UTSW	9	54609063	missense	probably damaging	1.00
R0426:Acsbg1	UTSW	9	54622746	missense	probably benign
R0445:Acsbg1	UTSW	9	54615895	missense	probably damaging	1.00
R0644:Acsbg1	UTSW	9	54609826	missense	probably damaging	1.00
R1779:Acsbg1	UTSW	9	54616062	missense	probably damaging	1.00
R1826:Acsbg1	UTSW	9	54622556	missense	possibly damaging	0.90
R4224:Acsbg1	UTSW	9	54616041	missense	possibly damaging	0.89
R5197:Acsbg1	UTSW	9	54622582	missense	possibly damaging	0.95
R5435:Acsbg1	UTSW	9	54615869	nonsense	probably null
R6241:Acsbg1	UTSW	9	54642662	missense	probably damaging	0.99
R6260:Acsbg1	UTSW	9	54628467	splice site	probably null
R6940:Acsbg1	UTSW	9	54609097	missense	probably benign	0.00
R7178:Acsbg1	UTSW	9	54628461	missense	possibly damaging	0.84
R7685:Acsbg1	UTSW	9	54628559	missense	unknown
R7943:Acsbg1	UTSW	9	54622737	missense	probably damaging	0.98
R8210:Acsbg1	UTSW	9	54609799	missense	probably damaging	1.00
R8256:Acsbg1	UTSW	9	54618061	missense	probably damaging	1.00
R8322:Acsbg1	UTSW	9	54615984	missense	probably benign	0.15
R8377:Acsbg1	UTSW	9	54622505	missense	probably damaging	1.00
R8726:Acsbg1	UTSW	9	54618178	missense	probably damaging	1.00
Z1177:Acsbg1	UTSW	9	54614934	missense	probably damaging	1.00
Z1177:Acsbg1	UTSW	9	54621966	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTGGTAAGTGGGAAGGATCATC -3'
(R):5'- TGCTGCTTGGCTCCTAAGTG -3'

Sequencing Primer
(F):5'- GTGGCAGAGGAATTTCCACCTTC -3'
(R):5'- TAAGTGGCCATTTCCAGGAC -3'

Posted On

2018-03-15