Mutagenetix > Incidental Mutation

Incidental Mutation 'R1616:Aacs'

174247

Institutional Source

Beutler Lab

Gene Symbol

Aacs

Ensembl Gene

ENSMUSG00000029482

Gene Name

acetoacetyl-CoA synthetase

Synonyms

2210408B16Rik

MMRRC Submission

039653-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

R1616 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

125552937-125594469 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 125561590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031445 (fasta)

Gene Model

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

AlphaFold

Q9D2R0

Predicted Effect

probably null
Transcript: ENSMUST00000031445

SMART Domains

Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482

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

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.3%
20x: 85.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	T	C	10: 20,187,087 (GRCm39)		probably benign	Het
A1cf	A	G	19: 31,912,175 (GRCm39)	E430G	probably damaging	Het
Acot12	G	A	13: 91,920,886 (GRCm39)	V331I	probably benign	Het
Acp7	A	G	7: 28,310,503 (GRCm39)	W445R	probably damaging	Het
Actl11	C	A	9: 107,809,135 (GRCm39)	Q1153K	probably benign	Het
Actr8	A	G	14: 29,704,601 (GRCm39)	T34A	possibly damaging	Het
Ahnak	A	G	19: 8,986,351 (GRCm39)	D2545G	possibly damaging	Het
Ap5z1	A	G	5: 142,457,991 (GRCm39)	Y388C	probably benign	Het
Apol7a	C	T	15: 77,273,806 (GRCm39)	G219S	probably damaging	Het
Arid1b	T	A	17: 5,389,569 (GRCm39)	I1705N	probably damaging	Het
Bod1l	T	C	5: 41,966,058 (GRCm39)	Q2669R	probably benign	Het
Braf	A	T	6: 39,620,067 (GRCm39)	S504T	probably benign	Het
Cbl	A	T	9: 44,064,197 (GRCm39)	Y780N	probably damaging	Het
Cd86	T	C	16: 36,449,338 (GRCm39)	I20V	probably benign	Het
Cep290	T	G	10: 100,404,698 (GRCm39)	D2353E	probably benign	Het
Ckmt2	G	A	13: 92,007,328 (GRCm39)	R289C	probably benign	Het
Col3a1	T	C	1: 45,367,648 (GRCm39)		probably null	Het
Cyp4f16	T	A	17: 32,761,942 (GRCm39)	Y163*	probably null	Het
Dimt1	T	C	13: 107,089,958 (GRCm39)	V227A	possibly damaging	Het
Dnah6	A	T	6: 73,077,095 (GRCm39)	M2338K	probably benign	Het
Dock4	T	G	12: 40,719,044 (GRCm39)	I274S	probably damaging	Het
Enthd1	T	C	15: 80,336,586 (GRCm39)	D616G	probably damaging	Het
Fignl2	T	C	15: 100,951,997 (GRCm39)	E95G	probably damaging	Het
Foxn1	A	G	11: 78,249,692 (GRCm39)	M611T	probably benign	Het
Foxs1	T	C	2: 152,774,559 (GRCm39)	S165G	probably benign	Het
Fzd3	G	T	14: 65,472,956 (GRCm39)	Q271K	probably benign	Het
Hadhb	A	T	5: 30,371,713 (GRCm39)	I55F	probably damaging	Het
Hipk3	G	A	2: 104,264,090 (GRCm39)	Q824*	probably null	Het
Hps1	G	A	19: 42,755,624 (GRCm39)	R201W	probably damaging	Het
Kif21b	T	C	1: 136,099,423 (GRCm39)	S1477P	probably damaging	Het
Kif26a	A	T	12: 112,123,680 (GRCm39)		probably null	Het
Krt90	T	C	15: 101,469,026 (GRCm39)	E172G	possibly damaging	Het
Lama4	T	G	10: 38,951,446 (GRCm39)	F1064V	probably damaging	Het
Leng9	A	G	7: 4,151,902 (GRCm39)	V258A	probably benign	Het
Lgi2	A	C	5: 52,703,980 (GRCm39)	V217G	probably benign	Het
Lpgat1	T	C	1: 191,495,741 (GRCm39)	I310T	possibly damaging	Het
Ltbp3	A	G	19: 5,796,995 (GRCm39)	Y374C	probably damaging	Het
Magi2	C	A	5: 20,814,324 (GRCm39)	T1075K	probably damaging	Het
Man2c1	T	C	9: 57,042,793 (GRCm39)	I221T	probably benign	Het
Mydgf	A	G	17: 56,486,415 (GRCm39)	M72T	possibly damaging	Het
Myo1b	T	C	1: 51,815,474 (GRCm39)	N624S	probably damaging	Het
Myo5c	T	A	9: 75,203,299 (GRCm39)	M1465K	probably damaging	Het
Nek4	A	T	14: 30,709,094 (GRCm39)	D716V	probably damaging	Het
Nfxl1	T	A	5: 72,686,380 (GRCm39)	Q607L	probably benign	Het
Nlrp9c	A	T	7: 26,083,862 (GRCm39)	D572E	probably benign	Het
Nop14	G	T	5: 34,807,757 (GRCm39)	Q402K	possibly damaging	Het
Npy5r	C	G	8: 67,134,052 (GRCm39)	C247S	probably damaging	Het
Nrap	T	A	19: 56,378,255 (GRCm39)	I19F	probably damaging	Het
Or4c102	A	G	2: 88,422,352 (GRCm39)	D68G	probably damaging	Het
Or51t4	T	A	7: 102,597,721 (GRCm39)	N16K	probably damaging	Het
Or6z3	T	G	7: 6,463,744 (GRCm39)	S79A	probably damaging	Het
Pcdh9	A	T	14: 94,124,405 (GRCm39)	Y588*	probably null	Het
Ppp1r12a	A	G	10: 108,096,728 (GRCm39)	E183G	probably damaging	Het
Ppp2r2b	T	A	18: 42,821,375 (GRCm39)	H261L	probably benign	Het
Ptch1	G	T	13: 63,687,656 (GRCm39)	T374K	possibly damaging	Het
Ptpn13	A	T	5: 103,713,103 (GRCm39)	N1742I	possibly damaging	Het
Rab33a	C	T	X: 47,608,521 (GRCm39)	S15L	probably benign	Het
Ralb	T	C	1: 119,405,744 (GRCm39)	Y75C	probably damaging	Het
Rassf7	T	A	7: 140,796,645 (GRCm39)	V2D	probably damaging	Het
Rbm10	A	G	X: 20,512,230 (GRCm39)	N397S	probably benign	Het
Rbm15	T	C	3: 107,238,197 (GRCm39)	T734A	probably benign	Het
Rbm8a	G	T	3: 96,539,046 (GRCm39)		probably benign	Het
Rock2	T	C	12: 17,022,986 (GRCm39)	I1095T	probably benign	Het
Rxfp3	T	A	15: 11,036,389 (GRCm39)	T328S	probably damaging	Het
Sec31a	T	A	5: 100,534,054 (GRCm39)	K505N	possibly damaging	Het
Selenof	A	G	3: 144,302,642 (GRCm39)	*122W	probably null	Het
Sh3pxd2b	T	C	11: 32,331,441 (GRCm39)	M55T	possibly damaging	Het
Slc15a2	T	C	16: 36,574,843 (GRCm39)	D522G	probably benign	Het
Slc2a1	T	C	4: 118,993,503 (GRCm39)	F447L	probably damaging	Het
Slc45a2	T	A	15: 11,022,214 (GRCm39)	C319S	probably null	Het
Smad4	T	C	18: 73,773,333 (GRCm39)	D551G	probably benign	Het
Smarcc2	A	G	10: 128,318,662 (GRCm39)	Y648C	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Stab2	A	T	10: 86,721,582 (GRCm39)		probably null	Het
Tanc1	A	G	2: 59,615,731 (GRCm39)	D246G	probably damaging	Het
Tekt3	T	G	11: 62,978,024 (GRCm39)		probably null	Het
Them5	G	A	3: 94,253,567 (GRCm39)		probably null	Het
Tlr4	T	A	4: 66,757,717 (GRCm39)	F170Y	probably damaging	Het
Tmem214	T	G	5: 31,028,907 (GRCm39)	Y165*	probably null	Het
Tmem94	T	C	11: 115,686,971 (GRCm39)		probably null	Het
Tom1l1	A	G	11: 90,547,177 (GRCm39)	L301S	possibly damaging	Het
Trpm3	A	G	19: 22,960,076 (GRCm39)	E1237G	probably damaging	Het
Ube2d1	C	A	10: 71,092,523 (GRCm39)	C107F	probably damaging	Het
Ugt3a1	C	T	15: 9,306,330 (GRCm39)	R160*	probably null	Het
Vcan	G	A	13: 89,853,782 (GRCm39)	P393S	probably damaging	Het
Virma	T	C	4: 11,544,954 (GRCm39)	F1638L	probably damaging	Het
Vmn1r31	G	A	6: 58,449,043 (GRCm39)	T274I	probably damaging	Het
Xylt2	C	T	11: 94,559,035 (GRCm39)	S445N	probably damaging	Het
Zfp457	A	G	13: 67,444,375 (GRCm39)	F43L	possibly damaging	Het
Zfp879	T	A	11: 50,723,473 (GRCm39)	M455L	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
IGL01613:Aacs	APN	5	125,589,716 (GRCm39)	missense	possibly damaging	0.48
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
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

Predicted Primers

Posted On

2014-04-24