Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03054:Acsbg3'

453038

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: 0.080) question?

Stock #

IGL03054 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

57182477-57195904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57193528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 625 (T625A)

Ref Sequence

ENSEMBL: ENSMUSP00000025048 (fasta)

Gene Model

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

AlphaFold

Q08EE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025048
AA Change: T625A

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: T625A

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

0.1795

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Aloxe3	T	C	11: 69,020,433 (GRCm39)	V159A	possibly damaging	Het
Atp13a2	T	A	4: 140,734,279 (GRCm39)	C1134S	possibly damaging	Het
Ccdc40	G	A	11: 119,154,027 (GRCm39)	E1100K	possibly damaging	Het
Ceacam5	A	T	7: 17,493,379 (GRCm39)	T801S	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Col4a2	T	C	8: 11,498,270 (GRCm39)	I1693T	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Dab2	G	T	15: 6,447,707 (GRCm39)		probably benign	Het
Dao	T	C	5: 114,162,963 (GRCm39)	L345P	probably damaging	Het
Dis3l	A	G	9: 64,217,722 (GRCm39)		probably null	Het
Egr3	C	T	14: 70,316,561 (GRCm39)	T124M	probably damaging	Het
Gng7	G	T	10: 80,787,485 (GRCm39)	F59L	probably damaging	Het
Itgb4	C	A	11: 115,891,166 (GRCm39)	Y1190*	probably null	Het
Lacc1	T	C	14: 77,268,355 (GRCm39)	M319V	possibly damaging	Het
Mapkbp1	A	G	2: 119,845,881 (GRCm39)	T417A	probably damaging	Het
Mier3	C	T	13: 111,822,848 (GRCm39)		probably benign	Het
Mlxipl	A	G	5: 135,162,110 (GRCm39)	D569G	possibly damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrpl15	A	G	1: 4,855,794 (GRCm39)		probably null	Het
Neb	T	C	2: 52,161,334 (GRCm39)	N2153D	probably damaging	Het
Nlrp9c	A	G	7: 26,081,701 (GRCm39)		probably null	Het
Npepps	C	T	11: 97,132,614 (GRCm39)		probably benign	Het
Or13a17	T	G	7: 140,271,623 (GRCm39)	S268R	probably benign	Het
Or1j10	A	T	2: 36,266,944 (GRCm39)	H52L	possibly damaging	Het
Or52z12	C	A	7: 103,234,047 (GRCm39)	H273N	probably benign	Het
Psmc4	T	C	7: 27,746,605 (GRCm39)	Y160C	probably damaging	Het
Rims1	T	C	1: 22,360,333 (GRCm39)	Y131C	probably damaging	Het
Riok1	G	A	13: 38,231,291 (GRCm39)	G183D	probably damaging	Het
Samd9l	T	A	6: 3,376,023 (GRCm39)	I413F	probably damaging	Het
Tnfrsf22	A	G	7: 143,194,532 (GRCm39)	Y132H	probably damaging	Het
Ttn	T	A	2: 76,726,104 (GRCm39)		probably benign	Het
Tulp1	A	G	17: 28,578,287 (GRCm39)		probably benign	Het
Usp15	C	A	10: 122,961,836 (GRCm39)		probably benign	Het
Wdr7	G	T	18: 63,958,192 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- CTTTGGGGAGCCAAGAGATC -3'
(R):5'- ATACTTAATGGAAGCCTGGGG -3'

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

Posted On

2017-01-24