Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01474:Acsbg2'

88383

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acsbg2

Ensembl Gene

ENSMUSG00000024207

Gene Name

acyl-CoA synthetase bubblegum family member 2

Synonyms

Bgr

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL01474

Quality Score

Status

Chromosome

Chromosomal Location

57150103-57181447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57168621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 166 (I166T)

Ref Sequence

ENSEMBL: ENSMUSP00000042352 (fasta)

Gene Model

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

AlphaFold

Q2XU92

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043062
AA Change: I166T

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042352
Gene: ENSMUSG00000024207
AA Change: I166T

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

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	T	13: 91,920,902 (GRCm39)	K336I	possibly damaging	Het
Adrm1b	G	T	3: 92,335,650 (GRCm39)	Q351K	probably damaging	Het
Bpifc	T	A	10: 85,836,503 (GRCm39)	M1L	probably damaging	Het
Ccnb2	T	A	9: 70,326,305 (GRCm39)	N44I	probably benign	Het
Cdc73	C	T	1: 143,547,070 (GRCm39)	V276M	probably benign	Het
Cnot7	A	G	8: 40,960,490 (GRCm39)		probably null	Het
Col11a1	T	A	3: 114,010,783 (GRCm39)		probably benign	Het
Coro1c	T	C	5: 114,020,216 (GRCm39)		probably benign	Het
Crocc	A	G	4: 140,762,703 (GRCm39)		probably benign	Het
Dync2h1	A	T	9: 7,102,493 (GRCm39)	Y396N	probably benign	Het
Gm2888	T	A	14: 3,032,041 (GRCm38)	D116E	probably damaging	Het
Gm29326	A	T	7: 29,262,014 (GRCm39)		noncoding transcript	Het
Greb1	A	G	12: 16,734,502 (GRCm39)	V1496A	probably benign	Het
H2bc18	A	G	3: 96,177,125 (GRCm39)		probably benign	Het
Hdac7	A	G	15: 97,695,820 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,474,712 (GRCm39)	T2778A	possibly damaging	Het
Hivep2	A	T	10: 14,019,406 (GRCm39)	H2059L	probably damaging	Het
Ift88	A	T	14: 57,715,531 (GRCm39)	I525F	probably benign	Het
Irag1	A	T	7: 110,470,640 (GRCm39)	S898T	possibly damaging	Het
Itga5	G	A	15: 103,262,697 (GRCm39)	Q324*	probably null	Het
Klhl14	T	G	18: 21,690,911 (GRCm39)	H513P	probably damaging	Het
Lama5	A	T	2: 179,838,363 (GRCm39)	D837E	probably damaging	Het
Muc6	C	A	7: 141,237,572 (GRCm39)	C215F	probably damaging	Het
Myh15	A	G	16: 48,952,461 (GRCm39)	K844E	probably damaging	Het
Neb	A	G	2: 52,218,917 (GRCm39)	V31A	unknown	Het
Nipbl	A	G	15: 8,340,693 (GRCm39)	I2009T	possibly damaging	Het
Or2ag18	A	G	7: 106,405,147 (GRCm39)	I174T	probably benign	Het
Piwil2	T	C	14: 70,635,667 (GRCm39)	R536G	probably benign	Het
Pld3	A	G	7: 27,232,044 (GRCm39)	V412A	probably damaging	Het
Prkaa2	A	C	4: 104,906,529 (GRCm39)		probably null	Het
Rdh9	T	C	10: 127,626,814 (GRCm39)	L289P	probably damaging	Het
Rusc2	C	T	4: 43,416,434 (GRCm39)	S580L	probably damaging	Het
Sidt2	A	G	9: 45,858,280 (GRCm39)		probably null	Het
Slc18b1	A	T	10: 23,679,748 (GRCm39)	K92N	probably benign	Het
Slc20a2	G	A	8: 23,025,573 (GRCm39)	V92M	possibly damaging	Het
Slc4a11	A	T	2: 130,527,464 (GRCm39)	F644I	probably damaging	Het
Spata31d1d	A	T	13: 59,878,029 (GRCm39)		probably benign	Het
Spef2	T	C	15: 9,663,244 (GRCm39)	M846V	probably benign	Het
Syncrip	T	C	9: 88,362,800 (GRCm39)	T3A	probably benign	Het

Other mutations in Acsbg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0149:Acsbg2	UTSW	17	57,160,924 (GRCm39)	splice site	probably benign
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

Posted On

2013-11-18