Mutagenetix > Incidental Mutation

Incidental Mutation 'R2917:Acsbg3'

254921

Institutional Source

Beutler Lab

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: 0.087) question?

Stock #

R2917 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57182477-57195904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57192141 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 568 (V568E)

Ref Sequence

ENSEMBL: ENSMUSP00000025048 (fasta)

Gene Model

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

AlphaFold

Q08EE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000025048
AA Change: V568E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: V568E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3m2	A	G	8: 23,289,815 (GRCm39)	V96A	probably benign	Het
Bglap3	G	C	3: 88,276,819 (GRCm39)		probably benign	Het
Brd7	A	G	8: 89,069,408 (GRCm39)	I429T	probably damaging	Het
Cacna1h	A	C	17: 25,614,426 (GRCm39)	L230R	probably damaging	Het
Camta2	A	G	11: 70,571,787 (GRCm39)	F479S	probably damaging	Het
Cmya5	A	T	13: 93,227,572 (GRCm39)	Y2505*	probably null	Het
Colgalt2	T	A	1: 152,347,495 (GRCm39)	V143D	probably damaging	Het
Dnaja1	C	T	4: 40,724,052 (GRCm39)	A71V	possibly damaging	Het
Gpr33	A	G	12: 52,070,379 (GRCm39)	V220A	possibly damaging	Het
Hsph1	A	T	5: 149,554,251 (GRCm39)	L168*	probably null	Het
Lig4	T	A	8: 10,021,596 (GRCm39)	E728V	possibly damaging	Het
Mrps23	T	C	11: 88,100,743 (GRCm39)	S75P	probably damaging	Het
Or2aa1	T	C	11: 59,480,265 (GRCm39)	T217A	probably benign	Het
Or5af2	A	G	11: 58,708,314 (GRCm39)	N160S	probably damaging	Het
Prss50	G	T	9: 110,691,613 (GRCm39)	G306C	probably null	Het
Rnf149	A	T	1: 39,591,564 (GRCm39)	S392T	probably benign	Het
Scn8a	T	A	15: 100,937,613 (GRCm39)	F1661I	probably damaging	Het
Slc12a8	T	A	16: 33,371,296 (GRCm39)	I144N	probably damaging	Het
Stxbp5l	A	T	16: 37,021,004 (GRCm39)	L630*	probably null	Het
Tmem131l	G	A	3: 83,844,887 (GRCm39)	R441*	probably null	Het
Trim63	T	C	4: 134,050,462 (GRCm39)	Y249H	probably damaging	Het
Vmn2r125	T	G	4: 156,703,564 (GRCm39)	L314R	probably benign	Het
Vwf	A	G	6: 125,585,106 (GRCm39)	N663D	probably benign	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
IGL01833:Acsbg3	APN	17	57,188,062 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- TTGACAAGTTCCTCTATGTCATGG -3'
(R):5'- TGCTTCTGATTAGGTATTTAGTCACA -3'

Sequencing Primer
(F):5'- CAAGTTCCTCTATGTCATGGGGAAC -3'
(R):5'- TTAGTCACAATGAACAAAACAAAAGG -3'

Posted On

2014-12-29