Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Acsbg3'

372466

Institutional Source

Beutler Lab

Gene Symbol

Acsbg3

Ensembl Gene

ENSMUSG00000024209

Gene Name

acyl-CoA synthetase bubblegum family member 3

Synonyms

1700061G19Rik

MMRRC Submission

042471-MU

Accession Numbers

Essential gene?

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

Stock #

R4860 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57182477-57195904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57195655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 684 (N684S)

Ref Sequence

ENSEMBL: ENSMUSP00000025048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025048] [ENSMUST00000025053]

AlphaFold

Q08EE8

Predicted Effect

probably benign
Transcript: ENSMUST00000025048
AA Change: N684S

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: N684S

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

probably benign
Transcript: ENSMUST00000025053

SMART Domains

Protein: ENSMUSP00000025053
Gene: ENSMUSG00000024212

Domain	Start	End	E-Value	Type
Pfam:YEATS	29	110	1.9e-28	PFAM
low complexity region	284	299	N/A	INTRINSIC
low complexity region	357	384	N/A	INTRINSIC
low complexity region	399	412	N/A	INTRINSIC
low complexity region	440	464	N/A	INTRINSIC
PDB:2LM0\|A	465	547	3e-31	PDB

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 87.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,267 (GRCm39)	S466P	possibly damaging	Het
Ablim1	T	C	19: 57,068,298 (GRCm39)	T267A	probably damaging	Het
Acap2	A	T	16: 30,922,317 (GRCm39)	L724Q	possibly damaging	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Ajm1	T	C	2: 25,468,765 (GRCm39)	Y382C	probably damaging	Het
Akr1d1	G	A	6: 37,541,426 (GRCm39)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,220,970 (GRCm39)	R54Q	probably benign	Het
Arhgap45	T	A	10: 79,862,900 (GRCm39)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,078,925 (GRCm39)	N137K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
BC048679	T	C	7: 81,145,468 (GRCm39)	N27D	probably benign	Het
Ccdc78	A	G	17: 26,007,674 (GRCm39)	N237S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm39)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,313 (GRCm39)	E731G	probably damaging	Het
Ctsh	A	G	9: 89,936,601 (GRCm39)	E26G	probably benign	Het
Cul1	G	T	6: 47,494,080 (GRCm39)	K464N	probably benign	Het
Cul1	T	A	6: 47,494,125 (GRCm39)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,387,006 (GRCm39)	D373E	probably benign	Het
Dhcr7	A	G	7: 143,394,237 (GRCm39)	Q126R	probably benign	Het
Dok2	T	C	14: 71,014,956 (GRCm39)	F228L	probably damaging	Het
Dpep3	T	G	8: 106,702,821 (GRCm39)	I314L	probably benign	Het
Eps8	A	G	6: 137,491,293 (GRCm39)	F362L	probably damaging	Het
Espn	G	T	4: 152,223,303 (GRCm39)	R250S	probably damaging	Het
Faf1	A	C	4: 109,600,093 (GRCm39)	N163H	probably damaging	Het
Fcho1	C	T	8: 72,163,125 (GRCm39)	V635I	probably benign	Het
Garin5b	C	T	7: 4,760,468 (GRCm39)		probably null	Het
Gask1b	C	A	3: 79,843,981 (GRCm39)	S36*	probably null	Het
Gm7579	G	A	7: 141,765,645 (GRCm39)	C17Y	unknown	Het
Gpx8	G	T	13: 113,182,042 (GRCm39)	Y130*	probably null	Het
Gvin1	A	T	7: 105,762,643 (GRCm39)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,443,881 (GRCm39)	M30K	probably benign	Het
Iqub	T	C	6: 24,450,841 (GRCm39)	D586G	probably damaging	Het
Klhl25	T	C	7: 75,516,798 (GRCm39)	I568T	probably benign	Het
Larp6	A	G	9: 60,645,093 (GRCm39)	E411G	probably damaging	Het
Lepr	A	C	4: 101,646,534 (GRCm39)	I822L	probably benign	Het
Lrig3	C	A	10: 125,846,921 (GRCm39)	D896E	probably benign	Het
Lrp1	C	T	10: 127,389,693 (GRCm39)	G3114D	probably damaging	Het
Lyset	A	T	12: 102,710,314 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,380,543 (GRCm39)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 103,138,485 (GRCm39)	D180G	probably damaging	Het
Matr3	T	A	18: 35,714,693 (GRCm39)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,825,887 (GRCm39)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,319,737 (GRCm39)	R238W	probably benign	Het
Mcrip2	G	T	17: 26,083,621 (GRCm39)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,502,418 (GRCm39)	N1043S	probably damaging	Het
Muc4	G	A	16: 32,754,616 (GRCm38)	G1497R	probably benign	Het
Muc4	T	A	16: 32,754,625 (GRCm38)	S1500T	probably benign	Het
Nbeal2	G	A	9: 110,464,262 (GRCm39)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,329,600 (GRCm39)	Y205F	probably damaging	Het
Nubp2	A	G	17: 25,103,430 (GRCm39)	M149T	probably benign	Het
Or4d2b	T	A	11: 87,780,051 (GRCm39)	M224L	probably damaging	Het
Or8d6	G	T	9: 39,853,800 (GRCm39)	M81I	probably benign	Het
Or8j3c	T	C	2: 86,253,301 (GRCm39)	T240A	probably damaging	Het
Pax3	A	G	1: 78,169,093 (GRCm39)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,343,135 (GRCm39)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 115,939,391 (GRCm39)	A1649V	probably damaging	Het
Pkhd1l1	T	C	15: 44,400,774 (GRCm39)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,896,305 (GRCm39)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,892,012 (GRCm39)	T91A	probably benign	Het
Ptger4	G	T	15: 5,272,087 (GRCm39)	N177K	probably benign	Het
Reln	A	G	5: 22,106,749 (GRCm39)	F3207S	probably benign	Het
Rigi	G	T	4: 40,210,000 (GRCm39)	S644R	probably damaging	Het
Ripk4	C	T	16: 97,552,736 (GRCm39)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,343,570 (GRCm39)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 157,916,855 (GRCm39)	Y278*	probably null	Het
Sel1l	A	G	12: 91,798,376 (GRCm39)	L140P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,532,263 (GRCm39)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Slmap	A	T	14: 26,181,364 (GRCm39)	V323E	probably benign	Het
Smim6	T	C	11: 115,804,330 (GRCm39)	V39A	probably benign	Het
Sorbs1	T	C	19: 40,325,449 (GRCm39)	T382A	probably benign	Het
Sparc	G	A	11: 55,290,037 (GRCm39)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,786,589 (GRCm39)	F283I	probably damaging	Het
Stil	A	G	4: 114,895,671 (GRCm39)	T586A	probably benign	Het
Tbce	T	A	13: 14,194,380 (GRCm39)	D93V	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Tex55	A	G	16: 38,648,507 (GRCm39)	S201P	probably damaging	Het
Tle4	A	T	19: 14,441,709 (GRCm39)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm39)	F254S	probably damaging	Het
Tubgcp3	T	C	8: 12,699,722 (GRCm39)	K377R	probably benign	Het
Ush2a	A	T	1: 188,285,472 (GRCm39)	T2003S	probably benign	Het
Usp53	A	G	3: 122,755,012 (GRCm39)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 11,886,683 (GRCm39)	L98Q	probably damaging	Het
Vmn2r116	A	C	17: 23,620,777 (GRCm39)	Q837P	probably benign	Het
Vmn2r3	T	C	3: 64,183,022 (GRCm39)	I226V	probably benign	Het
Vmn2r84	T	A	10: 130,221,712 (GRCm39)	D836V	probably damaging	Het
Vps13d	A	G	4: 144,813,731 (GRCm39)	F165L	probably benign	Het
Vstm4	A	G	14: 32,585,742 (GRCm39)	E103G	possibly damaging	Het
Zfp870	A	T	17: 33,102,314 (GRCm39)	C339*	probably null	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
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'- TCAGGGACTTCTGGAGAGGATTC -3'
(R):5'- ATACCAACTCTAGAGAGCGGG -3'

Sequencing Primer
(F):5'- AGAGGATTCTTGGCTACTTCCCAG -3'
(R):5'- CTAGAGAGCGGGATATGCCTTTCC -3'

Posted On

2016-03-01