Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02969:Acsbg3'

365747

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: 0.087) question?

Stock #

IGL02969

Quality Score

Status

Chromosome

Chromosomal Location

57182477-57195904 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57190751 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 440 (T440S)

Ref Sequence

ENSEMBL: ENSMUSP00000025048 (fasta)

Gene Model

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

AlphaFold

Q08EE8

Predicted Effect

probably damaging
Transcript: ENSMUST00000025048
AA Change: T440S

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

SMART Domains

Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: T440S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	G	8: 79,946,866 (GRCm39)		probably benign	Het
Akap12	T	A	10: 4,304,864 (GRCm39)	V558E	probably damaging	Het
Atg4c	T	C	4: 99,146,624 (GRCm39)		probably benign	Het
Atg7	T	A	6: 114,701,884 (GRCm39)	N673K	possibly damaging	Het
Brpf3	A	G	17: 29,040,279 (GRCm39)	D900G	probably benign	Het
C2cd5	T	C	6: 143,025,669 (GRCm39)	Y176C	probably damaging	Het
Cep70	A	T	9: 99,180,557 (GRCm39)	I571F	possibly damaging	Het
Cir1	C	T	2: 73,134,120 (GRCm39)	G150R	probably null	Het
Cyp46a1	T	C	12: 108,309,296 (GRCm39)	V68A	probably damaging	Het
Dlgap2	A	G	8: 14,881,579 (GRCm39)	T883A	possibly damaging	Het
Dnah2	C	A	11: 69,412,013 (GRCm39)	K249N	possibly damaging	Het
Dnajc11	A	G	4: 152,062,503 (GRCm39)	K434R	probably benign	Het
Eri3	A	G	4: 117,506,508 (GRCm39)	Y279C	probably damaging	Het
Hectd4	T	A	5: 121,503,116 (GRCm39)	Y4362N	possibly damaging	Het
Ilk	A	G	7: 105,389,547 (GRCm39)	K85E	possibly damaging	Het
Insrr	G	T	3: 87,721,498 (GRCm39)	G1135*	probably null	Het
Itgax	T	A	7: 127,748,295 (GRCm39)	M1108K	probably benign	Het
Mpzl3	C	T	9: 44,979,514 (GRCm39)	T155I	probably benign	Het
Or4f57	A	T	2: 111,790,912 (GRCm39)	C169S	probably damaging	Het
Or6c212	A	T	10: 129,559,065 (GRCm39)	M116K	probably damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Polr2h	A	G	16: 20,537,807 (GRCm39)	Y68C	probably damaging	Het
Pramel47	C	T	5: 95,489,258 (GRCm39)	P234S	probably benign	Het
Rhobtb3	A	G	13: 76,091,550 (GRCm39)	S2P	probably damaging	Het
Slc24a5	T	C	2: 124,925,147 (GRCm39)	S263P	probably damaging	Het
Spz1	T	G	13: 92,711,851 (GRCm39)	K208N	possibly damaging	Het
Tbpl2	C	A	2: 23,981,105 (GRCm39)	C231F	probably damaging	Het
Tdrd6	T	C	17: 43,938,440 (GRCm39)	I869M	probably damaging	Het
Tesk1	G	A	4: 43,447,027 (GRCm39)	E472K	possibly damaging	Het
Tesk1	C	A	4: 43,447,026 (GRCm39)	C471*	probably null	Het
Thoc2l	C	T	5: 104,667,209 (GRCm39)	T577I	probably benign	Het
Tmem213	T	A	6: 38,092,601 (GRCm39)	V111E	probably damaging	Het
Tmem232	A	T	17: 65,563,558 (GRCm39)	Y612N	possibly damaging	Het
Ttn	T	C	2: 76,729,707 (GRCm39)		probably benign	Het
Vmn2r113	G	A	17: 23,177,591 (GRCm39)	V792I	probably benign	Het
Wdfy1	A	G	1: 79,691,588 (GRCm39)	V273A	probably benign	Het
Wwp1	A	G	4: 19,623,200 (GRCm39)	S762P	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
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
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

2015-12-18