Mutagenetix > Incidental Mutation

Incidental Mutation 'R0063:Acss1'

43765

Institutional Source

Beutler Lab

Gene Symbol

Acss1

Ensembl Gene

ENSMUSG00000027452

Gene Name

acyl-CoA synthetase short-chain family member 1

Synonyms

Acas2, 1110032O15Rik, AceCS2, Acas2l

MMRRC Submission

038355-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0063 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150460031-150510160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150469212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 435 (T435A)

Ref Sequence

ENSEMBL: ENSMUSP00000028944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028944]

AlphaFold

Q99NB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028944
AA Change: T435A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028944
Gene: ENSMUSG00000027452
AA Change: T435A

Domain	Start	End	E-Value	Type
low complexity region	4	29	N/A	INTRINSIC
Pfam:ACAS_N	51	107	8.6e-17	PFAM
Pfam:AMP-binding	108	549	2.5e-90	PFAM
Pfam:AMP-binding_C	557	635	7.9e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154328

Meta Mutation Damage Score

0.8135

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.8%

Validation Efficiency

97% (69/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial acetyl-CoA synthetase enzyme. A similar protein in mice plays an important role in the tricarboxylic acid cycle by catalyzing the conversion of acetate to acetyl CoA. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice with disruptions in this gene display abnormalities in acetate metabolism. Ability to maintain body temperature under fasting conditions is reduced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	C	T	16: 4,678,912 (GRCm39)	R245*	probably null	Het
4930563I02Rik	T	A	14: 60,333,477 (GRCm39)		probably benign	Het
Aoc2	T	A	11: 101,216,897 (GRCm39)	S327T	probably damaging	Het
Arid5a	T	A	1: 36,357,645 (GRCm39)	Y252N	probably damaging	Het
AU040320	T	C	4: 126,733,465 (GRCm39)	Y662H	probably damaging	Het
B4gat1	T	A	19: 5,089,735 (GRCm39)	L244*	probably null	Het
Bcam	C	T	7: 19,500,773 (GRCm39)	V134I	probably benign	Het
Btbd16	A	T	7: 130,424,896 (GRCm39)	T426S	probably benign	Het
Btn1a1	C	T	13: 23,649,267 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,791,508 (GRCm39)		probably benign	Het
Capn8	T	A	1: 182,429,677 (GRCm39)	D299E	probably damaging	Het
Cdipt	G	A	7: 126,578,772 (GRCm39)	V160I	probably benign	Het
Cep164	A	G	9: 45,679,916 (GRCm39)	S1267P	possibly damaging	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Col3a1	T	C	1: 45,369,701 (GRCm39)		probably benign	Het
Cyb5r3	T	C	15: 83,046,137 (GRCm39)	T60A	probably benign	Het
Dgkb	T	G	12: 38,654,112 (GRCm39)	S744A	probably benign	Het
Dock2	T	A	11: 34,647,111 (GRCm39)		probably null	Het
Ece1	C	T	4: 137,675,892 (GRCm39)	T422M	probably benign	Het
Ece2	A	G	16: 20,461,067 (GRCm39)	T442A	probably benign	Het
Elapor2	T	C	5: 9,490,709 (GRCm39)		probably benign	Het
Eml3	C	A	19: 8,915,842 (GRCm39)	A644D	probably damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Foxp1	A	G	6: 98,921,684 (GRCm39)		probably benign	Het
Gm10801	G	T	2: 98,494,185 (GRCm39)	S109I	probably benign	Het
Il17rd	G	A	14: 26,804,690 (GRCm39)	C88Y	probably damaging	Het
Il17rd	C	A	14: 26,804,691 (GRCm39)	C88*	probably null	Het
Ino80c	A	G	18: 24,239,681 (GRCm39)	F160S	probably damaging	Het
Ints8	T	C	4: 11,252,857 (GRCm39)	N75S	probably damaging	Het
Irf2bp1	C	T	7: 18,739,772 (GRCm39)	R471C	possibly damaging	Het
Irs1	T	A	1: 82,266,580 (GRCm39)	E545D	probably damaging	Het
Lama3	T	C	18: 12,661,762 (GRCm39)		probably benign	Het
Mast4	C	A	13: 103,470,723 (GRCm39)		probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Nat8f2	A	T	6: 85,844,815 (GRCm39)	S182R	possibly damaging	Het
Nrcam	G	T	12: 44,596,811 (GRCm39)	V343F	possibly damaging	Het
Opn5	T	C	17: 42,907,517 (GRCm39)	S120G	probably damaging	Het
Pdk2	T	C	11: 94,923,306 (GRCm39)	H106R	probably benign	Het
Pkhd1	G	A	1: 20,282,174 (GRCm39)	T2889I	probably benign	Het
Pkhd1l1	T	A	15: 44,392,633 (GRCm39)	L1656H	probably damaging	Het
Plxna2	A	T	1: 194,327,247 (GRCm39)	T394S	probably benign	Het
Pnpla8	T	A	12: 44,329,615 (GRCm39)	C56S	probably damaging	Het
Prdm8	G	T	5: 98,332,453 (GRCm39)	R118L	probably damaging	Het
Prkce	T	C	17: 86,789,539 (GRCm39)		probably benign	Het
Ptprk	T	A	10: 28,139,763 (GRCm39)	Y163N	probably damaging	Het
Rbbp8	T	A	18: 11,867,614 (GRCm39)		probably benign	Het
Rnh1	A	T	7: 140,744,109 (GRCm39)		probably null	Het
Rtn4	T	A	11: 29,655,527 (GRCm39)		probably benign	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Slc2a2	T	C	3: 28,771,589 (GRCm39)	M173T	probably damaging	Het
Slc2a8	T	A	2: 32,870,011 (GRCm39)		probably null	Het
Tdpoz1	A	T	3: 93,578,121 (GRCm39)	M221K	probably benign	Het
Tgm7	G	T	2: 120,924,577 (GRCm39)	H533Q	probably benign	Het
Timm29	C	A	9: 21,504,304 (GRCm39)	A17E	probably benign	Het
Tmem131	C	T	1: 36,858,209 (GRCm39)	V713I	probably benign	Het
Tmem89	A	G	9: 108,743,880 (GRCm39)	N60S	probably benign	Het
Tpx2	A	G	2: 152,722,043 (GRCm39)	T212A	probably damaging	Het
Trio	G	T	15: 27,881,523 (GRCm39)		probably benign	Het
Tulp2	T	C	7: 45,170,284 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,244,542 (GRCm39)		probably benign	Het
Vmn2r5	T	A	3: 64,411,221 (GRCm39)	E449V	probably benign	Het
Vwa8	A	G	14: 79,401,656 (GRCm39)		probably benign	Het
Xirp2	A	G	2: 67,339,427 (GRCm39)	D556G	probably damaging	Het
Xrn1	T	C	9: 95,851,588 (GRCm39)	L202P	probably damaging	Het
Zfp354a	A	T	11: 50,960,398 (GRCm39)	H203L	probably damaging	Het
Zfp53	A	C	17: 21,728,367 (GRCm39)	R133S	probably benign	Het
Zfp787	C	T	7: 6,135,322 (GRCm39)		probably null	Het

Other mutations in Acss1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00743:Acss1	APN	2	150,461,606 (GRCm39)	missense	probably benign	0.27
IGL01594:Acss1	APN	2	150,463,450 (GRCm39)	missense	probably damaging	0.98
IGL01781:Acss1	APN	2	150,479,792 (GRCm39)	missense	probably damaging	1.00
IGL02189:Acss1	APN	2	150,471,788 (GRCm39)	missense	probably damaging	0.98
IGL02735:Acss1	APN	2	150,480,387 (GRCm39)	missense	probably damaging	1.00
IGL02738:Acss1	APN	2	150,466,792 (GRCm39)	splice site	probably benign
IGL03399:Acss1	APN	2	150,479,798 (GRCm39)	missense	probably damaging	1.00
Cutlass	UTSW	2	150,510,051 (GRCm39)	nonsense	probably null
oathkeeper	UTSW	2	150,501,823 (GRCm39)	missense	possibly damaging	0.58
oilseller	UTSW	2	150,509,801 (GRCm39)	splice site	probably null
scimitar	UTSW	2	150,470,412 (GRCm39)	critical splice donor site	probably null
R0058:Acss1	UTSW	2	150,470,459 (GRCm39)	missense	probably damaging	0.97
R0063:Acss1	UTSW	2	150,469,212 (GRCm39)	missense	probably damaging	1.00
R1550:Acss1	UTSW	2	150,484,715 (GRCm39)	missense	probably damaging	0.99
R1651:Acss1	UTSW	2	150,480,357 (GRCm39)	missense	possibly damaging	0.94
R2066:Acss1	UTSW	2	150,510,051 (GRCm39)	nonsense	probably null
R4414:Acss1	UTSW	2	150,501,823 (GRCm39)	missense	possibly damaging	0.58
R4559:Acss1	UTSW	2	150,480,405 (GRCm39)	missense	probably benign	0.19
R4893:Acss1	UTSW	2	150,471,786 (GRCm39)	missense	probably damaging	0.97
R6408:Acss1	UTSW	2	150,470,412 (GRCm39)	critical splice donor site	probably null
R6459:Acss1	UTSW	2	150,509,840 (GRCm39)	missense	probably damaging	0.97
R7593:Acss1	UTSW	2	150,461,688 (GRCm39)	nonsense	probably null
R7598:Acss1	UTSW	2	150,480,370 (GRCm39)	missense	probably benign	0.12
R8084:Acss1	UTSW	2	150,484,701 (GRCm39)	missense	probably damaging	0.99
R8087:Acss1	UTSW	2	150,484,668 (GRCm39)	missense	probably damaging	1.00
R8143:Acss1	UTSW	2	150,509,801 (GRCm39)	splice site	probably null
R8213:Acss1	UTSW	2	150,461,630 (GRCm39)	missense	possibly damaging	0.81
R8972:Acss1	UTSW	2	150,484,809 (GRCm39)	missense	probably damaging	1.00
R9064:Acss1	UTSW	2	150,463,510 (GRCm39)	missense	probably benign	0.00
R9708:Acss1	UTSW	2	150,471,752 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCATGTCCCAGACAGCAGACAG -3'
(R):5'- TGTAGCCATCAGGAAGGTCACTGAG -3'

Sequencing Primer
(F):5'- GACAGGCTGTACCTCTGAAC -3'
(R):5'- AGCTCTTCCTCCCTAAAAACGTATTC -3'

Posted On

2013-05-29