Mutagenetix > Incidental Mutations

Incidental Mutation 'R5433:Aacs'

428149

Institutional Source

Beutler Lab

Gene Symbol

Aacs

Ensembl Gene

ENSMUSG00000029482

Gene Name

acetoacetyl-CoA synthetase

Synonyms

2210408B16Rik

MMRRC Submission

042998-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R5433 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125475814-125517410 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125515014 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 589 (M589L)

Ref Sequence

ENSEMBL: ENSMUSP00000031445 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031445
AA Change: M589L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: M589L

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

Meta Mutation Damage Score

0.1479

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,925,498	S24G	probably damaging	Het
1810064F22Rik	A	G	9: 22,207,743		noncoding transcript	Het
Adamts8	A	C	9: 30,961,716	H739P	probably benign	Het
Atp8b2	T	C	3: 89,952,909		probably benign	Het
BC030500	A	G	8: 58,913,009		probably benign	Het
Btnl9	T	A	11: 49,176,003		probably benign	Het
Cd74	G	T	18: 60,807,921	A31S	probably benign	Het
Ceacam3	G	A	7: 17,159,883	A440T	possibly damaging	Het
Ces1d	G	A	8: 93,186,036	T258I	probably benign	Het
Col10a1	A	G	10: 34,390,739		probably benign	Het
Coro1b	C	T	19: 4,153,450	A430V	probably benign	Het
Cyp2c65	A	T	19: 39,093,484	I485L	probably benign	Het
Dio1	A	T	4: 107,306,780		probably benign	Het
Dmxl1	G	A	18: 49,867,899		probably null	Het
Elp6	A	G	9: 110,315,783	Y136C	probably damaging	Het
Gm1966	T	A	7: 106,600,107		noncoding transcript	Het
Gon4l	A	T	3: 88,896,225	Q1382L	possibly damaging	Het
Guca1a	T	C	17: 47,400,370	E17G	probably damaging	Het
Gucy2d	G	A	7: 98,449,775	G267E	probably damaging	Het
Hspg2	T	A	4: 137,528,794		probably null	Het
Il1a	G	T	2: 129,307,901	D26E	possibly damaging	Het
Iltifb	T	A	10: 118,294,884	I36F	probably damaging	Het
Kcna1	A	T	6: 126,643,112	F82I	probably damaging	Het
Klhl18	G	C	9: 110,436,127	N335K	possibly damaging	Het
Lamtor5	T	G	3: 107,282,007	C120G	probably benign	Het
Lars	A	G	18: 42,251,298	C72R	possibly damaging	Het
Lrrfip1	T	G	1: 91,087,126		probably null	Het
Mapkapk3	T	C	9: 107,256,292	D349G	probably damaging	Het
Mknk2	A	T	10: 80,667,225	I421N	probably benign	Het
Myh6	A	G	14: 54,953,924	I820T	probably benign	Het
Notch2	T	G	3: 98,126,134	V1182G	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr30	C	T	11: 58,455,854	V32M	probably damaging	Het
Olfr366	T	G	2: 37,219,672	F61C	probably damaging	Het
Ppfia4	A	T	1: 134,317,894	S641T	probably damaging	Het
Prok1	T	A	3: 107,239,633	H6L	probably benign	Het
Ptprm	A	T	17: 66,693,473	V1172E	probably damaging	Het
Rasal3	C	T	17: 32,393,601	R762Q	probably benign	Het
Rgs20	G	T	1: 5,070,110	A23E	possibly damaging	Het
Rprd1a	T	C	18: 24,507,231	T163A	probably benign	Het
Rrm1	A	T	7: 102,465,767	N37I	probably damaging	Het
Shc4	T	A	2: 125,639,430	E520V	probably damaging	Het
Slc14a2	G	T	18: 78,208,928	P56Q	probably damaging	Het
Slc22a3	C	T	17: 12,458,490	G264S	probably damaging	Het
Svil	A	G	18: 5,059,294	E770G	probably damaging	Het
Svop	A	G	5: 114,060,125	V129A	probably damaging	Het
Szt2	A	T	4: 118,375,466		probably benign	Het
Tcof1	T	C	18: 60,818,033		probably benign	Het
Tctex1d1	A	G	4: 103,002,503	E84G	possibly damaging	Het
Tmem30a	T	A	9: 79,780,648	I80F	probably damaging	Het
Vmn2r16	G	T	5: 109,363,842	L638F	probably damaging	Het
Xkr7	T	A	2: 153,054,324	I366N	probably damaging	Het
Zer1	A	G	2: 30,100,986		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
IGL01613:Aacs	APN	5	125512652	missense	possibly damaging	0.48
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
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

Predicted Primers

PCR Primer
(F):5'- GGTGCAGCTGTAGTATTGCC -3'
(R):5'- TAGGCAACGTGGTACCCATATAG -3'

Sequencing Primer
(F):5'- CAGCTGTAGTATTGCCCAGGTG -3'
(R):5'- CGTGGTACCCATATAGAAGCAAG -3'

Posted On

2016-09-01