Mutagenetix > Incidental Mutation

Incidental Mutation 'R1478:Aacs'

165613

Institutional Source

Beutler Lab

Gene Symbol

Aacs

Ensembl Gene

ENSMUSG00000029482

Gene Name

acetoacetyl-CoA synthetase

Synonyms

2210408B16Rik

MMRRC Submission

039531-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.666) question?

Stock #

R1478 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

125475814-125517410 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125503223 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 204 (I204N)

Ref Sequence

ENSEMBL: ENSMUSP00000031445 (fasta)

Gene Model

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

AlphaFold

Q9D2R0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031445
AA Change: I204N

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: I204N

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: ENSMUST00000144361

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.7%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931417E11Rik	A	T	6: 73,469,056	L170Q	probably damaging	Het
Acaca	A	G	11: 84,372,627	T2025A	probably damaging	Het
B4galt3	C	T	1: 171,276,365	R170C	probably benign	Het
BC028528	T	C	3: 95,891,959		probably null	Het
Ccdc73	A	T	2: 104,907,610	Q17L	possibly damaging	Het
Ccdc73	A	G	2: 104,914,667	T50A	possibly damaging	Het
Ccdc83	T	C	7: 90,259,469	D19G	probably damaging	Het
Cct8l1	T	C	5: 25,517,769	V494A	probably benign	Het
Chd1	T	C	17: 15,739,507	F663L	probably damaging	Het
Chn2	A	T	6: 54,293,080	E319V	probably damaging	Het
Cnnm1	T	C	19: 43,471,856	V679A	probably damaging	Het
Cntn6	C	T	6: 104,776,428	T447I	probably benign	Het
Cyp3a11	G	T	5: 145,858,771	L457I	probably benign	Het
Dera	T	A	6: 137,830,195	S214T	possibly damaging	Het
Dmtf1	A	G	5: 9,121,404	V501A	possibly damaging	Het
Dnpep	A	G	1: 75,316,027	V114A	probably damaging	Het
Dscam	C	T	16: 96,790,910	V722M	probably benign	Het
Dsp	A	G	13: 38,181,138	N499S	probably damaging	Het
Ecd	A	T	14: 20,346,657	Y53*	probably null	Het
Esyt3	T	C	9: 99,318,066	T692A	probably benign	Het
Fam19a2	T	A	10: 123,593,496	M5K	possibly damaging	Het
Fat1	T	A	8: 45,025,622	N2545K	probably damaging	Het
Fndc3a	A	G	14: 72,557,632		probably null	Het
Fscn3	A	G	6: 28,430,568	M246V	probably benign	Het
Gde1	G	T	7: 118,691,784	T106K	probably benign	Het
Gjc2	A	G	11: 59,177,608	I16T	possibly damaging	Het
Hacd4	A	T	4: 88,423,023	M168K	probably damaging	Het
Hmx3	A	G	7: 131,544,097	E178G	probably damaging	Het
Htt	A	G	5: 34,803,827	Y266C	probably damaging	Het
Kif27	G	T	13: 58,303,545	R990S	probably damaging	Het
Krtap22-2	A	T	16: 89,010,646	Y21*	probably null	Het
Lrrc41	T	A	4: 116,095,208	L661*	probably null	Het
Lrrc63	T	C	14: 75,125,984	T236A	probably benign	Het
Mmp13	T	C	9: 7,272,892	L84P	probably damaging	Het
Myh8	T	C	11: 67,292,725	I754T	probably benign	Het
Neb	A	C	2: 52,175,607	D5961E	probably benign	Het
Nlrx1	T	C	9: 44,264,077	H134R	probably benign	Het
Npepps	A	T	11: 97,226,847	M542K	probably benign	Het
Nup160	C	T	2: 90,679,399		probably benign	Het
Olfr402	T	A	11: 74,155,137		probably null	Het
Olfr952	T	A	9: 39,426,592	T160S	possibly damaging	Het
Pikfyve	T	C	1: 65,262,977		probably null	Het
Ppp6r1	A	T	7: 4,640,378		probably null	Het
Prss33	A	G	17: 23,835,098	W45R	probably damaging	Het
Ptprf	A	T	4: 118,212,105	Y980*	probably null	Het
Qrich1	T	C	9: 108,559,332	V743A	probably benign	Het
Rev3l	G	A	10: 39,783,333		probably null	Het
Samd9l	A	T	6: 3,376,369	N297K	probably benign	Het
Sap130	A	G	18: 31,680,474	H528R	possibly damaging	Het
Slc9b2	T	C	3: 135,326,102	V241A	probably benign	Het
Snx14	A	T	9: 88,394,528	V577E	probably benign	Het
Srrm2	T	C	17: 23,815,902	S507P	probably benign	Het
Stat2	A	G	10: 128,282,100		probably null	Het
Susd5	T	C	9: 114,096,684	F545S	probably benign	Het
Tnnt2	A	G	1: 135,848,026	T107A	probably benign	Het
Trappc6b	T	A	12: 59,048,167	I41F	possibly damaging	Het
Ttn	T	A	2: 76,852,073		probably benign	Het
Vmn1r88	A	C	7: 13,177,951	D78A	probably damaging	Het
Wisp3	G	A	10: 39,153,243	R230W	probably damaging	Het
Xpc	C	T	6: 91,508,528	D122N	possibly damaging	Het
Xpo1	C	T	11: 23,291,623	A890V	probably damaging	Het
Zfp493	A	G	13: 67,786,561	H211R	probably damaging	Het
Zfp958	A	T	8: 4,629,190	H405L	probably damaging	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
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
R9667:Aacs	UTSW	5	125503627	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TTCAGAGAACCTTGTAGGCGGCAG -3'
(R):5'- TCCCCACCTCAGATATGTGGAACC -3'

Sequencing Primer
(F):5'- GGCCACTGCTTCCTAGATGTG -3'
(R):5'- ACCTTTCACAACTCGCTGCA -3'

Posted On

2014-03-28