Mutagenetix > Incidental Mutation

Incidental Mutation 'R5214:Acsbg3'

403379

Institutional Source

Beutler Lab

Gene Symbol

Acsbg3

Ensembl Gene

ENSMUSG00000024209

Gene Name

acyl-CoA synthetase bubblegum family member 3

Synonyms

1700061G19Rik

MMRRC Submission

042787-MU

Accession Numbers

Essential gene?

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

Stock #

R5214 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57182477-57195904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57193493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 613 (V613A)

Ref Sequence

ENSEMBL: ENSMUSP00000025048 (fasta)

Gene Model

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

AlphaFold

Q08EE8

Predicted Effect

probably benign
Transcript: ENSMUST00000025048
AA Change: V613A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: V613A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (77/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	A	G	3: 116,861,424 (GRCm39)		noncoding transcript	Het
4930449A18Rik	A	T	3: 59,733,305 (GRCm39)		noncoding transcript	Het
Adgrl1	G	A	8: 84,642,202 (GRCm39)		probably null	Het
Aldh1l1	A	G	6: 90,540,399 (GRCm39)	D228G	probably damaging	Het
Ankrd17	T	C	5: 90,431,319 (GRCm39)	I822V	possibly damaging	Het
Atm	C	A	9: 53,402,327 (GRCm39)	A1382S	probably benign	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Cacna1e	T	A	1: 154,577,110 (GRCm39)	I96F	possibly damaging	Het
Calhm5	A	G	10: 33,968,487 (GRCm39)	S189P	probably damaging	Het
Ccar1	G	A	10: 62,606,740 (GRCm39)	R335C	probably damaging	Het
Ccdc113	T	C	8: 96,272,601 (GRCm39)	I236T	possibly damaging	Het
Ccdc14	T	A	16: 34,525,225 (GRCm39)	S125T	probably benign	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdon	T	C	9: 35,394,504 (GRCm39)	C917R	probably damaging	Het
Ckap2l	T	C	2: 129,127,389 (GRCm39)	D263G	probably benign	Het
Cntnap3	G	T	13: 64,909,824 (GRCm39)	H760Q	probably damaging	Het
Dennd2d	G	A	3: 106,393,637 (GRCm39)		probably null	Het
Dock4	A	G	12: 40,754,465 (GRCm39)	I485V	probably benign	Het
Dspp	A	G	5: 104,326,364 (GRCm39)	D909G	unknown	Het
Eps8	A	T	6: 137,504,490 (GRCm39)	M81K	probably damaging	Het
Fras1	T	C	5: 96,917,452 (GRCm39)	S3491P	probably damaging	Het
Gm17669	C	T	18: 67,695,479 (GRCm39)	T8I	possibly damaging	Het
Gm5114	G	T	7: 39,057,792 (GRCm39)	T609K	probably benign	Het
Gm973	A	G	1: 59,565,880 (GRCm39)	N32S	probably damaging	Het
Herpud1	G	T	8: 95,117,479 (GRCm39)		probably null	Het
Jcad	T	A	18: 4,674,134 (GRCm39)	L632Q	probably damaging	Het
Kcnh8	T	C	17: 53,205,486 (GRCm39)	L527S	probably damaging	Het
Klk1b11	C	A	7: 43,647,266 (GRCm39)	H67N	probably benign	Het
Ldhb	T	A	6: 142,441,321 (GRCm39)	I190F	probably damaging	Het
Lrrc34	A	T	3: 30,690,397 (GRCm39)	C168*	probably null	Het
Lrtm1	C	T	14: 28,743,651 (GRCm39)	H40Y	possibly damaging	Het
Mageb3	T	C	2: 121,785,319 (GRCm39)	M128V	possibly damaging	Het
Miga2	A	G	2: 30,261,208 (GRCm39)	T90A	probably benign	Het
Msantd5	C	A	11: 51,125,675 (GRCm39)	H199Q	possibly damaging	Het
Ndrg1	G	A	15: 66,831,239 (GRCm39)	T24I	probably damaging	Het
Nos2	T	C	11: 78,846,267 (GRCm39)	L878P	probably damaging	Het
Or11g27	T	G	14: 50,771,804 (GRCm39)	*312E	probably null	Het
Pcdhgb1	T	A	18: 37,814,478 (GRCm39)	I323N	probably damaging	Het
Plec	A	G	15: 76,061,921 (GRCm39)	I2537T	probably damaging	Het
Pnpo	C	A	11: 96,833,295 (GRCm39)	E68D	probably benign	Het
Ppp6r1	C	T	7: 4,646,176 (GRCm39)	R175Q	probably benign	Het
Prnp	C	T	2: 131,778,924 (GRCm39)	T192I	probably damaging	Het
Ptprb	T	C	10: 116,205,229 (GRCm39)	I2148T	possibly damaging	Het
Raf1	G	T	6: 115,614,583 (GRCm39)	F99L	possibly damaging	Het
Rbks	A	G	5: 31,807,736 (GRCm39)		probably benign	Het
Rlf	T	C	4: 121,007,897 (GRCm39)	D361G	probably damaging	Het
Rnpepl1	G	T	1: 92,847,001 (GRCm39)	D608Y	probably benign	Het
Scaf1	G	A	7: 44,652,662 (GRCm39)		probably benign	Het
Sh3rf1	A	T	8: 61,825,765 (GRCm39)	M587L	probably damaging	Het
Slc22a21	A	T	11: 53,843,869 (GRCm39)	S473T	probably damaging	Het
Syt15	A	G	14: 33,943,703 (GRCm39)	D84G	possibly damaging	Het
Tbc1d19	T	C	5: 54,007,183 (GRCm39)	L236P	probably benign	Het
Tbx2	G	T	11: 85,729,263 (GRCm39)	A549S	probably benign	Het
Tc2n	A	T	12: 101,659,461 (GRCm39)	C157*	probably null	Het
Tecta	C	T	9: 42,256,964 (GRCm39)	V1571I	probably benign	Het
Them4	A	G	3: 94,224,818 (GRCm39)	K65R	probably benign	Het
Tmc5	C	T	7: 118,247,155 (GRCm39)	T553M	probably damaging	Het
Tmem200c	C	T	17: 69,148,122 (GRCm39)	A235V	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Tmf1	G	C	6: 97,144,253 (GRCm39)	A701G	possibly damaging	Het
Tomm70a	G	A	16: 56,942,300 (GRCm39)	G26S	unknown	Het
Treh	T	C	9: 44,594,173 (GRCm39)	Y140H	probably damaging	Het
Ttc28	A	G	5: 111,325,489 (GRCm39)		probably benign	Het
Uba7	T	C	9: 107,854,713 (GRCm39)		probably benign	Het
Ube4a	T	C	9: 44,860,166 (GRCm39)	I299V	probably benign	Het
Zfhx4	A	C	3: 5,468,701 (GRCm39)	K2953T	probably damaging	Het
Zfp280d	T	A	9: 72,215,395 (GRCm39)		probably benign	Het
Zscan20	G	A	4: 128,482,109 (GRCm39)	R518C	probably benign	Het
Zw10	T	C	9: 48,975,463 (GRCm39)	I296T	possibly 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
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
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
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'- CTTTGGGGAGCCAAGAGATC -3'
(R):5'- ATCGTTGTCTAGAATGACCCAC -3'

Sequencing Primer
(F):5'- TGACGGCCTGAGATGATCC -3'
(R):5'- GAATGACCCACTTAATGATCTTGGC -3'

Posted On

2016-07-22