Mutagenetix > Incidental Mutation

Incidental Mutation 'R7874:Aacs'

608314

Institutional Source

Beutler Lab

Gene Symbol

Aacs

Ensembl Gene

ENSMUSG00000029482

Gene Name

acetoacetyl-CoA synthetase

Synonyms

2210408B16Rik

MMRRC Submission

045926-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.654) question?

Stock #

R7874 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125552937-125594469 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125583271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 276 (F276L)

Ref Sequence

ENSEMBL: ENSMUSP00000031445 (fasta)

Gene Model

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

AlphaFold

Q9D2R0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031445
AA Change: F276L

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: F276L

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

Meta Mutation Damage Score

0.6632

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	C	A	3: 6,685,201 (GRCm39)	K84N	probably damaging	Het
Aicda	T	A	6: 122,538,908 (GRCm39)	I179N	probably damaging	Het
Anks6	T	A	4: 47,049,275 (GRCm39)	H210L	unknown	Het
Ano1	G	A	7: 144,175,461 (GRCm39)	R486W	probably damaging	Het
Aoc1l3	A	G	6: 48,965,600 (GRCm39)	N536S	possibly damaging	Het
Atp8b1	A	G	18: 64,704,095 (GRCm39)	V341A	probably benign	Het
Btn1a1	T	C	13: 23,643,385 (GRCm39)	T355A	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Ceacam19	A	T	7: 19,620,363 (GRCm39)	D89E	probably damaging	Het
Cerkl	T	A	2: 79,168,981 (GRCm39)	R407S	probably damaging	Het
Chl1	A	G	6: 103,667,224 (GRCm39)	T389A	probably benign	Het
Dcn	A	G	10: 97,346,056 (GRCm39)		probably null	Het
Defa39	C	A	8: 22,192,812 (GRCm39)	R61S	possibly damaging	Het
Dhtkd1	T	C	2: 5,922,485 (GRCm39)	Q558R	possibly damaging	Het
Dhx36	C	A	3: 62,396,052 (GRCm39)	V452L	probably benign	Het
Dlg5	A	G	14: 24,185,687 (GRCm39)	V1906A	probably damaging	Het
Emc4	T	C	2: 112,194,178 (GRCm39)	T159A	probably damaging	Het
Fstl5	C	A	3: 76,569,093 (GRCm39)	P582Q	probably benign	Het
Izumo1r	T	A	9: 14,811,875 (GRCm39)	Y171F	probably benign	Het
Jag2	C	T	12: 112,879,566 (GRCm39)	V401M	probably damaging	Het
Jph2	C	T	2: 163,217,762 (GRCm39)	G305S	probably damaging	Het
Kbtbd13	C	A	9: 65,297,584 (GRCm39)	V451L	probably benign	Het
Map3k12	T	C	15: 102,409,077 (GRCm39)	T813A	possibly damaging	Het
Mast4	A	G	13: 102,875,783 (GRCm39)	L1295P	probably damaging	Het
Mia2	T	A	12: 59,155,374 (GRCm39)	D362E	probably damaging	Het
Mospd3	T	C	5: 137,598,290 (GRCm39)	Y77C	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Mup8	T	A	4: 60,222,420 (GRCm39)	H17L	probably damaging	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Ndnf	A	T	6: 65,680,413 (GRCm39)	M231L	probably benign	Het
Obscn	T	G	11: 59,024,102 (GRCm39)	T523P	probably damaging	Het
Or2t46	T	C	11: 58,472,573 (GRCm39)	V301A	possibly damaging	Het
P4htm	G	T	9: 108,474,148 (GRCm39)	A130E	probably benign	Het
Phc3	A	T	3: 30,990,863 (GRCm39)	D439E	probably benign	Het
Phlpp1	A	G	1: 106,317,603 (GRCm39)	I1275V	probably benign	Het
Poln	A	T	5: 34,181,694 (GRCm39)	I719N	probably damaging	Het
Ptch2	T	A	4: 116,963,161 (GRCm39)	L216Q	possibly damaging	Het
Rarres2	T	A	6: 48,549,079 (GRCm39)	K41N	probably benign	Het
Rasal3	C	T	17: 32,615,681 (GRCm39)	E386K	possibly damaging	Het
Rev3l	T	C	10: 39,698,491 (GRCm39)	I996T	possibly damaging	Het
Rreb1	A	G	13: 38,131,100 (GRCm39)	N36S	probably damaging	Het
Serpinb9d	T	A	13: 33,386,654 (GRCm39)		probably null	Het
Slc14a2	A	G	18: 78,203,983 (GRCm39)	V526A	probably benign	Het
Slc45a4	T	C	15: 73,456,184 (GRCm39)		probably null	Het
Srrm2	G	A	17: 24,034,652 (GRCm39)	R432H	unknown	Het
Th	G	A	7: 142,449,308 (GRCm39)	R266*	probably null	Het
Tln1	T	C	4: 43,538,041 (GRCm39)	Y1853C	probably damaging	Het
Tln1	A	T	4: 43,555,606 (GRCm39)	D169E	probably damaging	Het
Tmcc3	G	A	10: 94,386,889 (GRCm39)		probably null	Het
Tnxb	A	G	17: 34,930,417 (GRCm39)	E2034G	probably damaging	Het
Top6bl	C	T	19: 4,708,451 (GRCm39)	C347Y	probably damaging	Het
Ttc4	T	C	4: 106,522,881 (GRCm39)	T346A	probably benign	Het
Vmn2r5	A	T	3: 64,398,453 (GRCm39)	V842E	probably damaging	Het
Vmn2r82	T	G	10: 79,232,345 (GRCm39)	N781K	probably damaging	Het
Zdhhc17	A	T	10: 110,817,978 (GRCm39)	Y67N	possibly damaging	Het
Zfp273	A	G	13: 67,973,558 (GRCm39)	T229A	probably benign	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	Het
Zswim8	A	G	14: 20,773,217 (GRCm39)	H1769R	probably damaging	Het
Zzef1	T	C	11: 72,750,479 (GRCm39)	V929A	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
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
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

PCR Primer
(F):5'- CTCCAGGCTCTTGTGGTAGATG -3'
(R):5'- GGACTGCAGTGTTCTCTTGCTC -3'

Sequencing Primer
(F):5'- ATGTGGAGGGATCCTGGGC -3'
(R):5'- CCCCCTAGACATCTCATTTAGAG -3'

Posted On

2019-12-20