Mutagenetix > Incidental Mutations

Incidental Mutation 'R6260:Acsbg1'

506629

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

044377-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R6260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54604877-54661870 bp(-) (GRCm38)

Type of Mutation

splice site (54 bp from exon)

DNA Base Change (assembly)

T to A at 54628467 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034822] [ENSMUST00000128163] [ENSMUST00000128163] [ENSMUST00000128624] [ENSMUST00000128624] [ENSMUST00000138315] [ENSMUST00000138315]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034822
AA Change: E128V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034822
Gene: ENSMUSG00000032281
AA Change: E128V

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

Predicted Effect

probably null
Transcript: ENSMUST00000128163

Predicted Effect

probably null
Transcript: ENSMUST00000128163

Predicted Effect

probably null
Transcript: ENSMUST00000128624

Predicted Effect

probably null
Transcript: ENSMUST00000128624

Predicted Effect

probably null
Transcript: ENSMUST00000138315

SMART Domains

Protein: ENSMUSP00000118133
Gene: ENSMUSG00000032281

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000138315

SMART Domains

Protein: ENSMUSP00000118133
Gene: ENSMUSG00000032281

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC

Meta Mutation Damage Score

0.1778

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 80,008,987	N1514K	probably damaging	Het
Abcb4	G	T	5: 8,934,219	G650*	probably null	Het
Alms1	A	T	6: 85,628,735	K2456*	probably null	Het
Alppl2	A	T	1: 87,088,462	M225K	probably damaging	Het
Ank2	C	T	3: 126,943,557	V2806I	probably benign	Het
Atxn10	A	T	15: 85,462,411	I457F	probably benign	Het
Cad	G	T	5: 31,066,800	M800I	probably null	Het
Carmil3	T	A	14: 55,500,432	L815Q	probably damaging	Het
Ccz1	A	G	5: 144,004,041		probably null	Het
Cdc73	G	A	1: 143,691,473	T104I	probably benign	Het
Cfap52	A	T	11: 67,938,954	C330S	possibly damaging	Het
Clec16a	C	T	16: 10,694,848		probably benign	Het
Cntn3	A	G	6: 102,277,217		probably null	Het
Crocc2	A	G	1: 93,213,638	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,834,361	V86A	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Ddhd2	A	G	8: 25,752,117	F244L	probably benign	Het
Ddn	A	G	15: 98,805,854	V519A	possibly damaging	Het
Dip2b	G	T	15: 100,162,702	V253L	probably benign	Het
Dnah17	C	A	11: 118,126,322	W197C	probably damaging	Het
Dnah17	C	T	11: 118,126,323	W197*	probably null	Het
Dnah17	A	T	11: 118,126,324	W197R	probably damaging	Het
Ercc6	T	A	14: 32,557,856	D609E	probably benign	Het
Erg	C	A	16: 95,380,241	R147L	probably damaging	Het
Fbxo41	A	T	6: 85,478,555	L549H	probably damaging	Het
Foxd4	A	G	19: 24,899,604	S411P	probably benign	Het
Gaa	C	A	11: 119,281,171	A700D	probably benign	Het
Galntl6	T	A	8: 57,884,481	D135V	probably damaging	Het
Gm1043	G	C	5: 37,174,472	G832A	probably benign	Het
Gm14085	A	T	2: 122,523,482	I530F	probably damaging	Het
Gm21103	C	T	14: 6,303,847	E68K	probably damaging	Het
Gm340	A	T	19: 41,582,370	S1C	probably null	Het
Gm340	G	T	19: 41,582,371	S1I	possibly damaging	Het
Gpam	A	G	19: 55,083,406	V301A	probably benign	Het
H2-M10.1	T	A	17: 36,324,102	I304F	unknown	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Jak3	C	A	8: 71,679,310	Q177K	probably benign	Het
Kcnu1	G	A	8: 25,851,891	R88H	probably damaging	Het
Kng1	A	T	16: 23,058,621	I60F	possibly damaging	Het
Krt77	A	T	15: 101,864,372	Y257*	probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Map4k5	C	A	12: 69,831,562	R355L	probably benign	Het
Mefv	C	T	16: 3,713,034	R498H	probably benign	Het
Mical3	A	T	6: 121,009,030	L150Q	probably damaging	Het
Mtcl1	T	A	17: 66,343,541	Q1340L	probably damaging	Het
Nfic	A	T	10: 81,420,517	C126*	probably null	Het
Nisch	T	A	14: 31,177,128		probably benign	Het
Nt5dc3	A	G	10: 86,811,531	Y130C	probably damaging	Het
Olfr1309	C	T	2: 111,984,051	V8I	probably benign	Het
Olfr694	A	T	7: 106,688,872	N286K	probably damaging	Het
Olfr808	C	A	10: 129,767,520	T8K	probably benign	Het
Pcdhb12	T	C	18: 37,436,839	V346A	probably benign	Het
Pla2g4a	A	G	1: 149,857,487	S504P	probably benign	Het
Plin2	G	T	4: 86,657,289	A341D	probably damaging	Het
Plxnb2	A	T	15: 89,165,291	I575N	probably benign	Het
Pnmal2	T	G	7: 16,946,233	W381G	probably benign	Het
Psma8	A	G	18: 14,721,267	D68G	probably damaging	Het
Rcor3	G	A	1: 192,124,259	H207Y	probably benign	Het
Rwdd2b	C	A	16: 87,434,468	G266V	probably damaging	Het
Ryr3	A	G	2: 112,660,104	F3795S	probably damaging	Het
Sord	T	A	2: 122,259,132		probably null	Het
Spdl1	T	A	11: 34,819,886	N345I	probably damaging	Het
St8sia2	T	A	7: 73,976,693	R42S	possibly damaging	Het
Syt9	G	T	7: 107,436,510	V245F	possibly damaging	Het
Tbpl2	T	A	2: 24,094,886	N82I	possibly damaging	Het
Tcerg1	T	A	18: 42,553,465	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,667,918	T492A	probably benign	Het
Timm13	A	C	10: 80,900,301		probably benign	Het
Trdmt1	T	A	2: 13,520,059	Q195L	probably benign	Het
Ttc27	T	A	17: 74,858,091	V764D	probably damaging	Het
Ttc39d	C	A	17: 80,216,647	S245*	probably null	Het
Ttc41	A	G	10: 86,731,159	E563G	probably benign	Het
Ttc41	A	T	10: 86,733,707	T650S	probably benign	Het
U2surp	A	C	9: 95,476,157	L723R	probably damaging	Het
Ubqln3	G	A	7: 104,142,317	Q189*	probably null	Het
Vezf1	A	G	11: 88,081,500	N229S	probably damaging	Het
Vmn2r79	T	A	7: 87,037,157	M582K	probably benign	Het
Zfp518a	A	G	19: 40,914,123	D832G	probably benign	Het
Zfyve28	T	C	5: 34,198,872	N762D	probably damaging	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
R6275:Acsbg1	UTSW	9	54609772	missense	probably benign	0.00
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
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'- ACAATGGTGGTTTCTAGGGAC -3'
(R):5'- TCTGAAGACAACTCAGGTAGGC -3'

Sequencing Primer
(F):5'- CTAGGGACCTTGCCTGATGG -3'
(R):5'- CAACTCAGGTAGGCTTGACTAGACTG -3'

Posted On

2018-03-15