Mutagenetix > Incidental Mutation

Incidental Mutation 'R0149:Acsbg2'

22759

Institutional Source

Beutler Lab

Gene Symbol

Acsbg2

Ensembl Gene

ENSMUSG00000024207

Gene Name

acyl-CoA synthetase bubblegum family member 2

Synonyms

Bgr

MMRRC Submission

038433-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0149 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57150103-57181447 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 57160924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000042352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043062]

AlphaFold

Q2XU92

Predicted Effect

probably benign
Transcript: ENSMUST00000043062

SMART Domains

Protein: ENSMUSP00000042352
Gene: ENSMUSG00000024207

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	53	519	7e-93	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (84/87)

MGI Phenotype

PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	C	8: 12,330,000 (GRCm39)	S152R	unknown	Het
Adam6a	G	T	12: 113,509,369 (GRCm39)	V581F	probably damaging	Het
Adgrl3	A	T	5: 81,908,544 (GRCm39)	I1165F	probably damaging	Het
Aldh1l1	A	G	6: 90,566,396 (GRCm39)	K656E	possibly damaging	Het
Ankhd1	T	C	18: 36,780,267 (GRCm39)	I1773T	probably damaging	Het
Api5	A	T	2: 94,253,842 (GRCm39)	L287*	probably null	Het
Ascc3	A	T	10: 50,484,089 (GRCm39)	N55I	probably benign	Het
Cav1	C	A	6: 17,339,352 (GRCm39)	R146S	possibly damaging	Het
Cdhr2	A	T	13: 54,881,820 (GRCm39)	I1118F	probably damaging	Het
Cemip	A	G	7: 83,613,218 (GRCm39)	I660T	probably benign	Het
Clk1	T	A	1: 58,453,760 (GRCm39)	N305Y	probably damaging	Het
Cux1	T	A	5: 136,308,351 (GRCm39)	I1263F	probably damaging	Het
Cyp2d26	A	G	15: 82,676,968 (GRCm39)	L152P	probably damaging	Het
Dmtf1	A	G	5: 9,182,571 (GRCm39)	S188P	probably damaging	Het
Dock2	A	G	11: 34,388,327 (GRCm39)	L202P	probably damaging	Het
Dscaml1	T	G	9: 45,653,978 (GRCm39)	Y1418*	probably null	Het
Efemp2	A	T	19: 5,527,988 (GRCm39)	H107L	probably damaging	Het
Eng	T	C	2: 32,562,397 (GRCm39)		probably null	Het
Erc1	A	T	6: 119,801,791 (GRCm39)	S75R	probably damaging	Het
Fgl2	A	T	5: 21,580,783 (GRCm39)	D375V	probably damaging	Het
Fpr-rs6	T	C	17: 20,402,475 (GRCm39)	I295M	probably benign	Het
Fsip2	T	C	2: 82,805,849 (GRCm39)	S723P	possibly damaging	Het
Gdpd5	A	G	7: 99,107,997 (GRCm39)	I530V	possibly damaging	Het
Gm15217	T	A	14: 46,617,841 (GRCm39)		probably benign	Het
Gm4922	T	C	10: 18,659,289 (GRCm39)	T478A	probably benign	Het
Gmcl1	A	T	6: 86,709,891 (GRCm39)		probably null	Het
Has1	T	C	17: 18,070,433 (GRCm39)	T163A	probably damaging	Het
Hmcn1	A	T	1: 150,553,075 (GRCm39)	N2538K	probably benign	Het
Itga2	A	G	13: 114,973,115 (GRCm39)		probably benign	Het
Kcnip1	A	T	11: 33,793,177 (GRCm39)	M5K	probably benign	Het
Kcnk4	T	C	19: 6,903,562 (GRCm39)	E329G	probably benign	Het
Kcnt1	T	C	2: 25,788,276 (GRCm39)		probably benign	Het
Klkb1	A	G	8: 45,729,100 (GRCm39)	C375R	probably damaging	Het
Loxl2	C	A	14: 69,930,527 (GRCm39)	H764N	probably benign	Het
Lrrc55	A	T	2: 85,026,589 (GRCm39)	M145K	probably damaging	Het
Lrrtm2	A	G	18: 35,345,985 (GRCm39)	I439T	probably benign	Het
Magi1	A	T	6: 93,724,226 (GRCm39)	I263N	probably damaging	Het
Map4	C	T	9: 109,896,692 (GRCm39)	P641L	probably damaging	Het
Mars1	A	T	10: 127,135,903 (GRCm39)	N558K	probably damaging	Het
Mfap2	A	G	4: 140,742,294 (GRCm39)	D98G	probably damaging	Het
Mgat5b	A	G	11: 116,875,965 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,300,153 (GRCm39)	V1627D	probably benign	Het
Mtnr1a	A	T	8: 45,522,352 (GRCm39)	I36F	probably benign	Het
Myh15	A	T	16: 48,934,368 (GRCm39)	N645I	probably benign	Het
Myo7b	T	A	18: 32,147,262 (GRCm39)	I94F	probably damaging	Het
Nefh	A	T	11: 4,890,799 (GRCm39)	S607T	probably benign	Het
Ngf	T	A	3: 102,427,762 (GRCm39)	H174Q	probably benign	Het
Noa1	G	A	5: 77,445,020 (GRCm39)	Q600*	probably null	Het
Nr2f2	A	G	7: 70,007,810 (GRCm39)	V71A	possibly damaging	Het
Oas2	A	T	5: 120,876,466 (GRCm39)	F492L	probably damaging	Het
Or2y17	A	T	11: 49,231,641 (GRCm39)	Y94F	probably benign	Het
Or8g21	T	A	9: 38,905,880 (GRCm39)	M284L	probably benign	Het
Osmr	A	G	15: 6,871,432 (GRCm39)		probably null	Het
P4ha1	A	G	10: 59,184,221 (GRCm39)	T228A	probably damaging	Het
Pip5kl1	T	C	2: 32,468,966 (GRCm39)	V195A	possibly damaging	Het
Plagl2	A	T	2: 153,073,523 (GRCm39)	D459E	probably benign	Het
Plxna1	T	C	6: 89,297,595 (GRCm39)	E1863G	probably null	Het
Prdm10	T	G	9: 31,227,455 (GRCm39)		probably benign	Het
Prr14l	A	C	5: 32,950,985 (GRCm39)	L1936R	probably damaging	Het
Rgs1	T	C	1: 144,124,825 (GRCm39)		probably benign	Het
Rgsl1	A	G	1: 153,669,510 (GRCm39)	F292S	probably damaging	Het
Rhobtb2	T	C	14: 70,033,357 (GRCm39)	T538A	probably benign	Het
Rictor	A	G	15: 6,813,588 (GRCm39)	N1025D	possibly damaging	Het
Rsph10b	T	A	5: 143,875,727 (GRCm39)		probably benign	Het
Rwdd4a	A	G	8: 47,997,255 (GRCm39)	D158G	probably null	Het
Sdk1	T	C	5: 141,842,809 (GRCm39)		probably benign	Het
Serpina3n	A	C	12: 104,377,635 (GRCm39)	K296T	probably benign	Het
Slco1a8	T	C	6: 141,938,203 (GRCm39)	T239A	probably benign	Het
Snw1	A	G	12: 87,508,687 (GRCm39)	V124A	possibly damaging	Het
Tas2r140	T	G	6: 40,468,232 (GRCm39)	F21V	probably benign	Het
Tmc6	G	A	11: 117,660,274 (GRCm39)	L655F	probably damaging	Het
Tmem260	A	T	14: 48,689,504 (GRCm39)	T108S	possibly damaging	Het
Trim2	T	C	3: 84,098,083 (GRCm39)	Y406C	probably damaging	Het
Tsc1	T	C	2: 28,560,913 (GRCm39)	I257T	probably damaging	Het
Ttn	T	C	2: 76,673,746 (GRCm39)		probably benign	Het
Unc80	T	A	1: 66,560,760 (GRCm39)	N829K	possibly damaging	Het
Vmn1r235	A	C	17: 21,482,257 (GRCm39)	D194A	probably damaging	Het
Vmn2r100	A	T	17: 19,741,509 (GRCm39)		probably null	Het
Ylpm1	G	T	12: 85,075,612 (GRCm39)	R321L	probably damaging	Het
Zan	T	C	5: 137,395,028 (GRCm39)	T4381A	unknown	Het
Zfp457	A	G	13: 67,440,710 (GRCm39)	F622L	probably damaging	Het
Zfy1	T	C	Y: 726,121 (GRCm39)	H548R	possibly damaging	Het
Zmym4	A	T	4: 126,804,938 (GRCm39)	S441T	probably benign	Het

Other mutations in Acsbg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:Acsbg2	APN	17	57,168,621 (GRCm39)	missense	possibly damaging	0.90
IGL02119:Acsbg2	APN	17	57,175,459 (GRCm39)	splice site	probably benign
IGL02418:Acsbg2	APN	17	57,156,730 (GRCm39)	missense	probably benign
R0023:Acsbg2	UTSW	17	57,154,710 (GRCm39)	missense	probably damaging	0.98
R0023:Acsbg2	UTSW	17	57,154,710 (GRCm39)	missense	probably damaging	0.98
R1542:Acsbg2	UTSW	17	57,156,791 (GRCm39)	missense	probably damaging	1.00
R2014:Acsbg2	UTSW	17	57,160,855 (GRCm39)	missense	possibly damaging	0.52
R4170:Acsbg2	UTSW	17	57,160,846 (GRCm39)	missense	probably benign	0.00
R4465:Acsbg2	UTSW	17	57,168,580 (GRCm39)	missense	probably damaging	1.00
R4867:Acsbg2	UTSW	17	57,169,914 (GRCm39)	missense	possibly damaging	0.93
R5169:Acsbg2	UTSW	17	57,156,913 (GRCm39)	missense	probably benign	0.07
R5524:Acsbg2	UTSW	17	57,157,197 (GRCm39)	missense	probably damaging	1.00
R6521:Acsbg2	UTSW	17	57,168,565 (GRCm39)	missense	probably benign	0.00
R6531:Acsbg2	UTSW	17	57,153,617 (GRCm39)	missense	probably damaging	1.00
R7126:Acsbg2	UTSW	17	57,153,633 (GRCm39)	missense	probably damaging	0.99
R7167:Acsbg2	UTSW	17	57,164,000 (GRCm39)	missense	probably benign	0.44
R7423:Acsbg2	UTSW	17	57,175,257 (GRCm39)	missense	probably benign
R7970:Acsbg2	UTSW	17	57,156,728 (GRCm39)	missense	probably benign	0.43
R8023:Acsbg2	UTSW	17	57,152,448 (GRCm39)	missense	probably damaging	1.00
R8104:Acsbg2	UTSW	17	57,152,443 (GRCm39)	missense	probably benign	0.27
R8887:Acsbg2	UTSW	17	57,175,285 (GRCm39)	missense	probably benign	0.25
Z1177:Acsbg2	UTSW	17	57,160,898 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGCAAAGAAAGTGAGTGCCCCAATC -3'
(R):5'- ACACACAAGTGTgcctgctctc -3'

Sequencing Primer
(F):5'- AGTGCCCCAATCTTGATGG -3'
(R):5'- tgctctcttatagaactcaggac -3'

Posted On

2013-04-16