Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01613:Aacs'

92255

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aacs

Ensembl Gene

ENSMUSG00000029482

Gene Name

acetoacetyl-CoA synthetase

Synonyms

2210408B16Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

125475814-125517410 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 125512652 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 446 (M446R)

Ref Sequence

ENSEMBL: ENSMUSP00000031445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031445]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031445
AA Change: M446R

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: M446R

Domain	Start	End	E-Value	Type
Pfam:ACAS_N	47	105	1.1e-11	PFAM
Pfam:AMP-binding	103	546	1.7e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144361

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200286

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	Het

Other mutations in Aacs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Aacs	APN	5	125514190	missense	probably benign	0.00
IGL00155:Aacs	APN	5	125513171	missense	probably damaging	1.00
IGL00906:Aacs	APN	5	125503274	missense	probably benign	0.00
IGL00910:Aacs	APN	5	125508708	missense	probably benign	0.00
IGL01796:Aacs	APN	5	125513209	missense	probably damaging	1.00
IGL02155:Aacs	APN	5	125506286	missense	probably null	1.00
IGL02585:Aacs	APN	5	125515057	missense	possibly damaging	0.78
IGL03218:Aacs	APN	5	125484663	splice site	probably null
PIT4283001:Aacs	UTSW	5	125484655	missense	probably damaging	0.99
R0328:Aacs	UTSW	5	125516259	missense	probably benign	0.00
R1478:Aacs	UTSW	5	125503223	missense	possibly damaging	0.94
R1511:Aacs	UTSW	5	125514977	missense	probably benign	0.00
R1544:Aacs	UTSW	5	125516330	missense	possibly damaging	0.82
R1616:Aacs	UTSW	5	125484526	splice site	probably null
R1709:Aacs	UTSW	5	125489878	missense	probably benign	0.00
R1725:Aacs	UTSW	5	125482935	critical splice donor site	probably null
R2424:Aacs	UTSW	5	125513095	splice site	probably null
R2472:Aacs	UTSW	5	125506252	missense	probably damaging	1.00
R3612:Aacs	UTSW	5	125503187	missense	probably damaging	1.00
R3732:Aacs	UTSW	5	125506262	missense	probably damaging	0.99
R3766:Aacs	UTSW	5	125506262	missense	probably damaging	0.99
R4740:Aacs	UTSW	5	125506252	missense	probably damaging	1.00
R4911:Aacs	UTSW	5	125506160	missense	possibly damaging	0.68
R5433:Aacs	UTSW	5	125515014	missense	probably benign	0.01
R5477:Aacs	UTSW	5	125511920	missense	probably damaging	1.00
R5863:Aacs	UTSW	5	125503223	missense	possibly damaging	0.88
R6919:Aacs	UTSW	5	125506163	missense	probably benign	0.35
R6943:Aacs	UTSW	5	125506298	critical splice donor site	probably null
R7543:Aacs	UTSW	5	125482856	missense	probably damaging	1.00
R7874:Aacs	UTSW	5	125506207	missense	possibly damaging	0.60
R7923:Aacs	UTSW	5	125511884	missense	probably damaging	1.00

Posted On

2013-12-09