Mutagenetix > Incidental Mutation

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

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

125552937-125594469 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 125589716 bp (GRCm39)

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]

AlphaFold

Q9D2R0

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: 120,140,500 (GRCm39)	N1599S	probably benign	Het
Ankib1	G	A	5: 3,763,146 (GRCm39)	Q528*	probably null	Het
Ano10	A	T	9: 122,088,606 (GRCm39)	L347M	possibly damaging	Het
Bag6	T	C	17: 35,361,992 (GRCm39)		probably benign	Het
Bpnt1	T	C	1: 185,086,191 (GRCm39)	V182A	possibly damaging	Het
Capn13	G	T	17: 73,638,053 (GRCm39)	T450N	probably benign	Het
Cbr3	A	T	16: 93,480,331 (GRCm39)	E40V	probably benign	Het
Cdk10	T	C	8: 123,955,126 (GRCm39)	I159T	probably damaging	Het
Cela3b	T	C	4: 137,152,382 (GRCm39)	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,219,502 (GRCm39)		probably benign	Het
Cyp2b19	C	T	7: 26,462,886 (GRCm39)	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,497,713 (GRCm39)	H687R	probably benign	Het
Elovl1	T	C	4: 118,288,467 (GRCm39)	V108A	probably benign	Het
Emb	T	A	13: 117,408,614 (GRCm39)	N318K	probably damaging	Het
Ermp1	A	G	19: 29,617,339 (GRCm39)	L36P	probably damaging	Het
Esco2	T	G	14: 66,064,044 (GRCm39)	H380P	possibly damaging	Het
Gm9747	G	A	1: 82,211,809 (GRCm39)		probably benign	Het
Golga1	A	G	2: 38,910,138 (GRCm39)	M603T	probably benign	Het
Hsph1	A	G	5: 149,550,743 (GRCm39)	V411A	probably benign	Het
Igsf21	C	T	4: 139,834,675 (GRCm39)	G66S	possibly damaging	Het
Ints11	T	C	4: 155,969,655 (GRCm39)		probably null	Het
Jakmip1	G	T	5: 37,258,112 (GRCm39)	A253S	probably damaging	Het
Met	A	G	6: 17,540,576 (GRCm39)	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,024,984 (GRCm39)	T2A	probably benign	Het
Myh2	G	T	11: 67,088,170 (GRCm39)	V1929L	probably benign	Het
Myh8	T	C	11: 67,192,536 (GRCm39)	S1472P	probably benign	Het
Myo1e	T	C	9: 70,248,555 (GRCm39)		probably benign	Het
Ndufaf7	A	G	17: 79,244,931 (GRCm39)	I17V	probably benign	Het
Or4a47	T	C	2: 89,666,152 (GRCm39)	T46A	probably damaging	Het
Or5ak22	C	T	2: 85,230,515 (GRCm39)	D121N	probably damaging	Het
Or5h25	A	T	16: 58,930,284 (GRCm39)	S230T	probably damaging	Het
Or6c6c	A	G	10: 129,541,492 (GRCm39)	I248M	probably benign	Het
Or7g18	T	A	9: 18,786,617 (GRCm39)		probably benign	Het
Or8b50	A	G	9: 38,517,850 (GRCm39)	I30V	probably null	Het
Or8k1	T	G	2: 86,047,505 (GRCm39)	D183A	probably damaging	Het
Ppef2	T	C	5: 92,383,679 (GRCm39)	E477G	probably benign	Het
Scmh1	T	A	4: 120,387,097 (GRCm39)		probably benign	Het
Scn1a	C	A	2: 66,116,281 (GRCm39)	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 118,389,676 (GRCm39)	V322I	probably benign	Het
Slco1a7	G	T	6: 141,658,940 (GRCm39)	T552K	possibly damaging	Het
Spta1	G	A	1: 174,035,960 (GRCm39)	A1089T	probably damaging	Het
Sufu	T	C	19: 46,464,059 (GRCm39)	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183 (GRCm39)	F108L	possibly damaging	Het
Ttn	T	C	2: 76,805,308 (GRCm39)	N177S	probably benign	Het
Tyk2	T	C	9: 21,031,872 (GRCm39)	D401G	probably damaging	Het
Vav1	T	C	17: 57,614,067 (GRCm39)	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,119,718 (GRCm39)	H385R	probably damaging	Het
Xab2	T	C	8: 3,660,880 (GRCm39)	M745V	probably benign	Het

Other mutations in Aacs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Aacs	APN	5	125,591,254 (GRCm39)	missense	probably benign	0.00
IGL00155:Aacs	APN	5	125,590,235 (GRCm39)	missense	probably damaging	1.00
IGL00906:Aacs	APN	5	125,580,338 (GRCm39)	missense	probably benign	0.00
IGL00910:Aacs	APN	5	125,585,772 (GRCm39)	missense	probably benign	0.00
IGL01796:Aacs	APN	5	125,590,273 (GRCm39)	missense	probably damaging	1.00
IGL02155:Aacs	APN	5	125,583,350 (GRCm39)	missense	probably null	1.00
IGL02585:Aacs	APN	5	125,592,121 (GRCm39)	missense	possibly damaging	0.78
IGL03218:Aacs	APN	5	125,561,727 (GRCm39)	splice site	probably null
PIT4283001:Aacs	UTSW	5	125,561,719 (GRCm39)	missense	probably damaging	0.99
R0328:Aacs	UTSW	5	125,593,323 (GRCm39)	missense	probably benign	0.00
R1478:Aacs	UTSW	5	125,580,287 (GRCm39)	missense	possibly damaging	0.94
R1511:Aacs	UTSW	5	125,592,041 (GRCm39)	missense	probably benign	0.00
R1544:Aacs	UTSW	5	125,593,394 (GRCm39)	missense	possibly damaging	0.82
R1616:Aacs	UTSW	5	125,561,590 (GRCm39)	splice site	probably null
R1709:Aacs	UTSW	5	125,566,942 (GRCm39)	missense	probably benign	0.00
R1725:Aacs	UTSW	5	125,559,999 (GRCm39)	critical splice donor site	probably null
R2424:Aacs	UTSW	5	125,590,159 (GRCm39)	splice site	probably null
R2472:Aacs	UTSW	5	125,583,316 (GRCm39)	missense	probably damaging	1.00
R3612:Aacs	UTSW	5	125,580,251 (GRCm39)	missense	probably damaging	1.00
R3732:Aacs	UTSW	5	125,583,326 (GRCm39)	missense	probably damaging	0.99
R3766:Aacs	UTSW	5	125,583,326 (GRCm39)	missense	probably damaging	0.99
R4740:Aacs	UTSW	5	125,583,316 (GRCm39)	missense	probably damaging	1.00
R4911:Aacs	UTSW	5	125,583,224 (GRCm39)	missense	possibly damaging	0.68
R5433:Aacs	UTSW	5	125,592,078 (GRCm39)	missense	probably benign	0.01
R5477:Aacs	UTSW	5	125,588,984 (GRCm39)	missense	probably damaging	1.00
R5863:Aacs	UTSW	5	125,580,287 (GRCm39)	missense	possibly damaging	0.88
R6919:Aacs	UTSW	5	125,583,227 (GRCm39)	missense	probably benign	0.35
R6943:Aacs	UTSW	5	125,583,362 (GRCm39)	critical splice donor site	probably null
R7543:Aacs	UTSW	5	125,559,920 (GRCm39)	missense	probably damaging	1.00
R7874:Aacs	UTSW	5	125,583,271 (GRCm39)	missense	possibly damaging	0.60
R7923:Aacs	UTSW	5	125,588,948 (GRCm39)	missense	probably damaging	1.00
R9667:Aacs	UTSW	5	125,580,691 (GRCm39)	missense	possibly damaging	0.95

Posted On

2013-12-09