Mutagenetix > Incidental Mutation

Incidental Mutation 'R0445:Acsbg1'

39322

Institutional Source

Beutler Lab

Gene Symbol

Acsbg1

Ensembl Gene

ENSMUSG00000032281

Gene Name

acyl-CoA synthetase bubblegum family member 1

Synonyms

E230019G03Rik, Lpd, BG1, Bgm

MMRRC Submission

038646-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R0445 (G1)

Quality Score

148

Status

Validated

Chromosome

Chromosomal Location

54512161-54569154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54523179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 483 (S483P)

Ref Sequence

ENSEMBL: ENSMUSP00000034822 (fasta)

Gene Model

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

AlphaFold

Q99PU5

Predicted Effect

probably damaging
Transcript: ENSMUST00000034822
AA Change: S483P

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

SMART Domains

Protein: ENSMUSP00000034822
Gene: ENSMUSG00000032281
AA Change: S483P

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

Meta Mutation Damage Score

0.6818

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

100% (77/77)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	C	17: 48,400,542 (GRCm39)		probably null	Het
A2m	C	T	6: 121,634,914 (GRCm39)	T687I	probably damaging	Het
Adam22	T	A	5: 8,230,591 (GRCm39)		probably benign	Het
Aggf1	A	G	13: 95,490,509 (GRCm39)	V595A	possibly damaging	Het
Aplf	A	T	6: 87,640,734 (GRCm39)	L71I	probably damaging	Het
Arid3c	G	T	4: 41,725,172 (GRCm39)	P292T	probably benign	Het
Bltp1	T	C	3: 37,054,214 (GRCm39)	V3111A	probably damaging	Het
Brms1l	T	A	12: 55,908,191 (GRCm39)	Y213*	probably null	Het
C87436	T	A	6: 86,426,832 (GRCm39)	S332T	possibly damaging	Het
Cad	G	A	5: 31,230,053 (GRCm39)	A1454T	probably benign	Het
Cdkn3	T	C	14: 47,004,857 (GRCm39)		probably null	Het
Cnot1	A	G	8: 96,486,836 (GRCm39)	C624R	probably damaging	Het
Cntnap5c	A	T	17: 58,411,738 (GRCm39)	I541F	probably benign	Het
Dennd1b	A	G	1: 139,095,503 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,573,703 (GRCm39)	I753N	probably damaging	Het
Eef2	C	CN	10: 81,014,604 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,057,399 (GRCm39)	V1826D	possibly damaging	Het
Epha8	T	C	4: 136,659,711 (GRCm39)	Y755C	probably damaging	Het
Esco1	A	T	18: 10,574,989 (GRCm39)	N694K	probably damaging	Het
Fermt3	T	C	19: 6,980,667 (GRCm39)	H300R	probably benign	Het
Galnt5	C	A	2: 57,888,962 (GRCm39)	F187L	probably benign	Het
Gm17067	A	G	7: 42,358,046 (GRCm39)	I152T	probably benign	Het
Gnb3	T	C	6: 124,814,218 (GRCm39)	D154G	possibly damaging	Het
Gpr155	G	A	2: 73,200,488 (GRCm39)		probably benign	Het
Hdac3	A	G	18: 38,076,777 (GRCm39)	I240T	probably damaging	Het
Ifitm1	A	T	7: 140,548,354 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,272,466 (GRCm39)	L1455Q	probably benign	Het
Krt1	A	C	15: 101,756,056 (GRCm39)	L388R	probably damaging	Het
Lrp1	T	A	10: 127,426,505 (GRCm39)	K635*	probably null	Het
Map3k2	A	G	18: 32,350,263 (GRCm39)	Y371C	probably damaging	Het
Mcu	T	C	10: 59,292,467 (GRCm39)		probably benign	Het
Mkrn1	C	T	6: 39,381,788 (GRCm39)	V167I	probably benign	Het
Mrpl9	T	A	3: 94,352,198 (GRCm39)		probably benign	Het
Naip2	T	C	13: 100,298,395 (GRCm39)	Y547C	possibly damaging	Het
Nup88	G	A	11: 70,838,555 (GRCm39)	T487I	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Obscn	C	T	11: 58,890,161 (GRCm39)	R7457H	unknown	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or2y13	T	A	11: 49,414,784 (GRCm39)	V78E	probably damaging	Het
Paf1	T	C	7: 28,095,113 (GRCm39)	S118P	probably damaging	Het
Parp4	T	A	14: 56,840,205 (GRCm39)		probably null	Het
Pcdh15	A	T	10: 74,178,381 (GRCm39)	Y157F	probably damaging	Het
Pex10	G	A	4: 155,153,531 (GRCm39)		probably null	Het
Phrf1	C	T	7: 140,827,244 (GRCm39)		probably benign	Het
Polr3a	G	T	14: 24,504,989 (GRCm39)	D1090E	probably benign	Het
Ppfia4	A	C	1: 134,255,027 (GRCm39)	L276R	probably benign	Het
Rdh16f1	T	C	10: 127,626,736 (GRCm39)	L263S	probably benign	Het
Ryr3	T	C	2: 112,696,399 (GRCm39)	D967G	probably benign	Het
Shc1	G	T	3: 89,333,844 (GRCm39)	A226S	probably damaging	Het
Slc4a1	A	G	11: 102,245,192 (GRCm39)	V585A	probably benign	Het
Stk38l	T	A	6: 146,677,184 (GRCm39)	S461T	probably benign	Het
Tbkbp1	A	T	11: 97,040,295 (GRCm39)	S40T	probably damaging	Het
Tet1	A	G	10: 62,715,720 (GRCm39)	M25T	probably benign	Het
Themis	A	G	10: 28,658,007 (GRCm39)	R192G	probably damaging	Het
Tmem144	T	C	3: 79,732,661 (GRCm39)	T206A	probably benign	Het
Tmem74b	G	A	2: 151,548,879 (GRCm39)	R202H	probably damaging	Het
Trpm1	T	C	7: 63,894,590 (GRCm39)		probably benign	Het
Vars1	A	G	17: 35,230,785 (GRCm39)	H557R	probably benign	Het
Zbtb12	C	A	17: 35,115,277 (GRCm39)	A354E	possibly damaging	Het
Zfp143	A	T	7: 109,660,324 (GRCm39)		probably benign	Het
Zftraf1	T	C	15: 76,532,457 (GRCm39)	H217R	probably damaging	Het

Other mutations in Acsbg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00507:Acsbg1	APN	9	54,529,712 (GRCm39)	splice site	probably benign
IGL00757:Acsbg1	APN	9	54,530,003 (GRCm39)	missense	possibly damaging	0.53
IGL01665:Acsbg1	APN	9	54,530,004 (GRCm39)	missense	probably benign
IGL02213:Acsbg1	APN	9	54,523,254 (GRCm39)	missense	probably damaging	0.98
R0388:Acsbg1	UTSW	9	54,516,347 (GRCm39)	missense	probably damaging	1.00
R0426:Acsbg1	UTSW	9	54,530,030 (GRCm39)	missense	probably benign
R0644:Acsbg1	UTSW	9	54,517,110 (GRCm39)	missense	probably damaging	1.00
R1779:Acsbg1	UTSW	9	54,523,346 (GRCm39)	missense	probably damaging	1.00
R1826:Acsbg1	UTSW	9	54,529,840 (GRCm39)	missense	possibly damaging	0.90
R4224:Acsbg1	UTSW	9	54,523,325 (GRCm39)	missense	possibly damaging	0.89
R5197:Acsbg1	UTSW	9	54,529,866 (GRCm39)	missense	possibly damaging	0.95
R5435:Acsbg1	UTSW	9	54,523,153 (GRCm39)	nonsense	probably null
R6241:Acsbg1	UTSW	9	54,549,946 (GRCm39)	missense	probably damaging	0.99
R6260:Acsbg1	UTSW	9	54,535,751 (GRCm39)	splice site	probably null
R6275:Acsbg1	UTSW	9	54,517,056 (GRCm39)	missense	probably benign	0.00
R6940:Acsbg1	UTSW	9	54,516,381 (GRCm39)	missense	probably benign	0.00
R7178:Acsbg1	UTSW	9	54,535,745 (GRCm39)	missense	possibly damaging	0.84
R7685:Acsbg1	UTSW	9	54,535,843 (GRCm39)	missense	unknown
R7943:Acsbg1	UTSW	9	54,530,021 (GRCm39)	missense	probably damaging	0.98
R8210:Acsbg1	UTSW	9	54,517,083 (GRCm39)	missense	probably damaging	1.00
R8256:Acsbg1	UTSW	9	54,525,345 (GRCm39)	missense	probably damaging	1.00
R8322:Acsbg1	UTSW	9	54,523,268 (GRCm39)	missense	probably benign	0.15
R8377:Acsbg1	UTSW	9	54,529,789 (GRCm39)	missense	probably damaging	1.00
R8726:Acsbg1	UTSW	9	54,525,462 (GRCm39)	missense	probably damaging	1.00
Z1177:Acsbg1	UTSW	9	54,529,250 (GRCm39)	missense	possibly damaging	0.94
Z1177:Acsbg1	UTSW	9	54,522,218 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGATGGCAGTTGAAACTTGAGGC -3'
(R):5'- TGCATTCAGGAGCACTCACACTTAC -3'

Sequencing Primer
(F):5'- AACTTGAGGCTAGGGATTCAGTG -3'
(R):5'- acaacaattcatccaaacggac -3'

Posted On

2013-05-23