Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01833:Acsbg3'

154839

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acsbg3

Ensembl Gene

ENSMUSG00000024209

Gene Name

acyl-CoA synthetase bubblegum family member 3

Synonyms

1700061G19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL01833

Quality Score

Status

Chromosome

Chromosomal Location

57182477-57195904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57188062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 190 (N190S)

Ref Sequence

ENSEMBL: ENSMUSP00000025048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025048]

AlphaFold

Q08EE8

Predicted Effect

probably benign
Transcript: ENSMUST00000025048
AA Change: N190S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: N190S

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
Pfam:AMP-binding	80	554	6.5e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125425

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	A	8: 114,469,728 (GRCm39)	Y658F	probably benign	Het
Camsap3	T	A	8: 3,658,508 (GRCm39)	L1151Q	probably damaging	Het
Casp14	T	A	10: 78,551,237 (GRCm39)	Y16F	probably damaging	Het
Clip2	A	T	5: 134,526,938 (GRCm39)		probably benign	Het
Clip4	G	A	17: 72,134,785 (GRCm39)		probably benign	Het
Cyb5r4	G	A	9: 86,941,505 (GRCm39)		probably null	Het
Ep400	A	T	5: 110,827,874 (GRCm39)	N2329K	unknown	Het
Fam163a	T	A	1: 155,955,742 (GRCm39)	I17F	probably damaging	Het
Galnt1	T	A	18: 24,400,617 (GRCm39)	I241N	probably damaging	Het
Galnt14	T	G	17: 73,811,899 (GRCm39)	I441L	probably benign	Het
Gpr45	T	C	1: 43,071,402 (GRCm39)	L15P	probably benign	Het
Hivep1	A	T	13: 42,308,464 (GRCm39)	K235*	probably null	Het
Kcnip2	T	C	19: 45,782,746 (GRCm39)		probably null	Het
Kpna3	T	C	14: 61,607,894 (GRCm39)	N437S	possibly damaging	Het
Lmtk2	A	T	5: 144,112,753 (GRCm39)	R1158*	probably null	Het
Lpo	A	G	11: 87,698,159 (GRCm39)	V612A	possibly damaging	Het
Myh15	T	C	16: 48,934,421 (GRCm39)	C663R	probably damaging	Het
Nacad	G	A	11: 6,555,700 (GRCm39)	R17C	unknown	Het
Or7a35	A	T	10: 78,853,770 (GRCm39)	M205L	probably benign	Het
Pcsk2	A	G	2: 143,529,500 (GRCm39)	Q99R	possibly damaging	Het
Pkd1l2	T	C	8: 117,787,264 (GRCm39)	N593S	probably benign	Het
Plce1	G	A	19: 38,709,425 (GRCm39)	S1093N	probably damaging	Het
Prxl2b	G	T	4: 154,981,059 (GRCm39)		probably benign	Het
Rhpn2	T	A	7: 35,075,596 (GRCm39)	Y258N	probably benign	Het
Serpinb9d	T	C	13: 33,384,688 (GRCm39)	Y222H	probably damaging	Het
Shprh	T	C	10: 11,066,806 (GRCm39)	L1401P	probably damaging	Het
Slc5a7	A	G	17: 54,588,861 (GRCm39)	L262P	probably damaging	Het
Stat2	T	G	10: 128,117,045 (GRCm39)	F293V	probably benign	Het
Stpg4	T	A	17: 87,702,585 (GRCm39)		probably null	Het
Styk1	G	T	6: 131,279,329 (GRCm39)		probably benign	Het
Sult2a2	T	A	7: 13,468,721 (GRCm39)	D62E	probably damaging	Het
Sytl2	G	A	7: 90,045,745 (GRCm39)	V632M	probably damaging	Het
Themis	C	T	10: 28,658,307 (GRCm39)	Q445*	probably null	Het
Tmem225	A	T	9: 40,059,725 (GRCm39)	E35V	probably damaging	Het
Vmn1r48	T	A	6: 90,013,265 (GRCm39)	T187S	probably damaging	Het
Xpnpep1	A	G	19: 52,988,824 (GRCm39)	Y463H	probably damaging	Het

Other mutations in Acsbg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Acsbg3	APN	17	57,189,203 (GRCm39)	nonsense	probably null
IGL02420:Acsbg3	APN	17	57,187,494 (GRCm39)	missense	probably damaging	1.00
IGL02969:Acsbg3	APN	17	57,190,751 (GRCm39)	missense	probably damaging	1.00
IGL03054:Acsbg3	UTSW	17	57,193,528 (GRCm39)	missense	possibly damaging	0.67
R0197:Acsbg3	UTSW	17	57,190,835 (GRCm39)	missense	probably benign	0.01
R0257:Acsbg3	UTSW	17	57,192,169 (GRCm39)	nonsense	probably null
R0279:Acsbg3	UTSW	17	57,192,169 (GRCm39)	nonsense	probably null
R0280:Acsbg3	UTSW	17	57,192,169 (GRCm39)	nonsense	probably null
R0281:Acsbg3	UTSW	17	57,192,169 (GRCm39)	nonsense	probably null
R0282:Acsbg3	UTSW	17	57,192,169 (GRCm39)	nonsense	probably null
R0329:Acsbg3	UTSW	17	57,190,631 (GRCm39)	missense	probably benign	0.02
R0330:Acsbg3	UTSW	17	57,190,631 (GRCm39)	missense	probably benign	0.02
R0349:Acsbg3	UTSW	17	57,192,169 (GRCm39)	nonsense	probably null
R0518:Acsbg3	UTSW	17	57,192,169 (GRCm39)	nonsense	probably null
R0519:Acsbg3	UTSW	17	57,192,169 (GRCm39)	nonsense	probably null
R0521:Acsbg3	UTSW	17	57,192,169 (GRCm39)	nonsense	probably null
R0604:Acsbg3	UTSW	17	57,192,169 (GRCm39)	nonsense	probably null
R0883:Acsbg3	UTSW	17	57,190,835 (GRCm39)	missense	probably benign	0.01
R1561:Acsbg3	UTSW	17	57,184,431 (GRCm39)	missense	probably benign
R1779:Acsbg3	UTSW	17	57,192,169 (GRCm39)	nonsense	probably null
R2008:Acsbg3	UTSW	17	57,193,478 (GRCm39)	missense	probably benign	0.04
R2102:Acsbg3	UTSW	17	57,191,949 (GRCm39)	nonsense	probably null
R2247:Acsbg3	UTSW	17	57,184,435 (GRCm39)	missense	possibly damaging	0.83
R2484:Acsbg3	UTSW	17	57,189,641 (GRCm39)	missense	probably benign	0.00
R2917:Acsbg3	UTSW	17	57,192,141 (GRCm39)	missense	probably damaging	1.00
R3149:Acsbg3	UTSW	17	57,183,348 (GRCm39)	missense	probably benign
R3773:Acsbg3	UTSW	17	57,183,262 (GRCm39)	start codon destroyed	probably null	0.00
R4829:Acsbg3	UTSW	17	57,190,500 (GRCm39)	splice site	probably null
R4860:Acsbg3	UTSW	17	57,195,655 (GRCm39)	missense	probably benign	0.09
R4860:Acsbg3	UTSW	17	57,195,655 (GRCm39)	missense	probably benign	0.09
R4887:Acsbg3	UTSW	17	57,183,324 (GRCm39)	missense	possibly damaging	0.84
R5043:Acsbg3	UTSW	17	57,192,198 (GRCm39)	missense	probably damaging	1.00
R5112:Acsbg3	UTSW	17	57,184,465 (GRCm39)	missense	probably benign	0.03
R5161:Acsbg3	UTSW	17	57,189,888 (GRCm39)	missense	possibly damaging	0.84
R5214:Acsbg3	UTSW	17	57,193,493 (GRCm39)	missense	probably benign
R5287:Acsbg3	UTSW	17	57,183,221 (GRCm39)	unclassified	probably benign
R5403:Acsbg3	UTSW	17	57,183,221 (GRCm39)	unclassified	probably benign
R5779:Acsbg3	UTSW	17	57,188,061 (GRCm39)	missense	probably benign	0.02
R5997:Acsbg3	UTSW	17	57,183,373 (GRCm39)	missense	probably benign	0.02
R6198:Acsbg3	UTSW	17	57,189,679 (GRCm39)	missense	probably damaging	1.00
R6259:Acsbg3	UTSW	17	57,184,513 (GRCm39)	missense	probably benign	0.04
R6357:Acsbg3	UTSW	17	57,184,591 (GRCm39)	critical splice donor site	probably null
R6754:Acsbg3	UTSW	17	57,190,358 (GRCm39)	missense	probably damaging	0.99
R6842:Acsbg3	UTSW	17	57,184,432 (GRCm39)	missense	probably benign	0.00
R7042:Acsbg3	UTSW	17	57,192,098 (GRCm39)	missense	possibly damaging	0.73
R7181:Acsbg3	UTSW	17	57,188,037 (GRCm39)	missense	probably benign	0.03
R7445:Acsbg3	UTSW	17	57,189,973 (GRCm39)	missense	possibly damaging	0.64
R7511:Acsbg3	UTSW	17	57,189,954 (GRCm39)	missense	probably damaging	0.98
R8122:Acsbg3	UTSW	17	57,193,670 (GRCm39)	missense	possibly damaging	0.50
R8553:Acsbg3	UTSW	17	57,188,021 (GRCm39)	missense	probably benign	0.02
R8919:Acsbg3	UTSW	17	57,189,218 (GRCm39)	missense	probably benign	0.00
R9460:Acsbg3	UTSW	17	57,183,316 (GRCm39)	missense	probably damaging	0.99
R9469:Acsbg3	UTSW	17	57,183,283 (GRCm39)	missense	probably benign	0.00
R9766:Acsbg3	UTSW	17	57,189,177 (GRCm39)	missense	probably benign	0.02
Z1177:Acsbg3	UTSW	17	57,190,463 (GRCm39)	frame shift	probably null

Posted On

2014-02-04