Mutagenetix > Incidental Mutation

Incidental Mutation 'R8213:Acss1'

636240

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

067655-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8213 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150460031-150510160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150461630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 651 (D651V)

Ref Sequence

ENSEMBL: ENSMUSP00000028944 (fasta)

Gene Model

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

AlphaFold

Q99NB1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028944
AA Change: D651V

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028944
Gene: ENSMUSG00000027452
AA Change: D651V

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (65/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Aktip	G	T	8: 91,851,494 (GRCm39)	P243H	possibly damaging	Het
Arl11	T	G	14: 61,548,714 (GRCm39)	S175A	probably benign	Het
Aup1	A	G	6: 83,031,588 (GRCm39)		probably benign	Het
Avil	A	T	10: 126,844,190 (GRCm39)	I250F	probably damaging	Het
Btnl6	A	T	17: 34,727,857 (GRCm39)		probably null	Het
Ccdc7b	C	A	8: 129,904,772 (GRCm39)	Q137K	probably benign	Het
Cdk11b	G	A	4: 155,724,338 (GRCm39)	E319K	unknown	Het
Chka	A	C	19: 3,935,882 (GRCm39)	E196A	probably damaging	Het
Depdc5	C	T	5: 33,094,981 (GRCm39)	R753C	probably damaging	Het
Dhx57	T	A	17: 80,582,585 (GRCm39)	D340V	possibly damaging	Het
Dicer1	A	T	12: 104,668,952 (GRCm39)	D1243E	probably benign	Het
Dnajb9	A	T	12: 44,253,916 (GRCm39)	L164M	probably benign	Het
Dock6	A	G	9: 21,742,740 (GRCm39)	V785A	possibly damaging	Het
Efcab5	T	C	11: 77,006,897 (GRCm39)	Y909C	probably damaging	Het
Erp44	A	T	4: 48,208,783 (GRCm39)	S226T	probably benign	Het
Fgd6	A	T	10: 93,879,914 (GRCm39)	D256V	probably benign	Het
Fhl5	A	T	4: 25,207,113 (GRCm39)	Y218*	probably null	Het
Filip1	C	A	9: 79,725,374 (GRCm39)	A1082S	probably benign	Het
Heatr5a	G	A	12: 51,938,226 (GRCm39)	T1484M	probably damaging	Het
Herc1	G	T	9: 66,358,170 (GRCm39)	R2417L	probably damaging	Het
Hnrnpr	A	G	4: 136,044,486 (GRCm39)		probably benign	Het
Igsf5	A	T	16: 96,174,188 (GRCm39)	I73F	probably damaging	Het
Il17ra	T	C	6: 120,449,995 (GRCm39)	V91A	probably benign	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Kbtbd3	A	G	9: 4,331,269 (GRCm39)	K548E	probably damaging	Het
Kdm5d	T	A	Y: 941,515 (GRCm39)	C1239S	probably damaging	Het
Mamdc4	G	A	2: 25,456,368 (GRCm39)	T709M	probably benign	Het
Mybbp1a	T	A	11: 72,335,547 (GRCm39)	Y353N	probably damaging	Het
Nepn	A	T	10: 52,267,855 (GRCm39)	E40D	probably benign	Het
Nhsl3	A	T	4: 129,115,252 (GRCm39)	V1070D	possibly damaging	Het
Npat	G	T	9: 53,481,870 (GRCm39)	E1193*	probably null	Het
Nrde2	G	A	12: 100,097,262 (GRCm39)	S846L	probably benign	Het
Nup205	T	C	6: 35,202,138 (GRCm39)	V1290A	probably benign	Het
Or10a49	C	A	7: 108,467,726 (GRCm39)	V212L	probably benign	Het
Or4d10b	A	G	19: 12,036,456 (GRCm39)	V220A	probably benign	Het
Or5g9	T	A	2: 85,551,845 (GRCm39)	L32Q	probably null	Het
Pde6a	A	T	18: 61,353,768 (GRCm39)	K31M	possibly damaging	Het
Pms2	C	T	5: 143,851,589 (GRCm39)	R169C	probably damaging	Het
Polr2g	A	T	19: 8,775,621 (GRCm39)	L30Q	probably damaging	Het
Pramel22	T	A	4: 143,380,755 (GRCm39)	M423L	probably benign	Het
Pramel30	A	T	4: 144,057,030 (GRCm39)	D71V	probably benign	Het
Prdm15	T	A	16: 97,608,260 (GRCm39)	H679L	probably damaging	Het
Prl4a1	T	G	13: 28,207,369 (GRCm39)	Y214*	probably null	Het
Prlr	C	T	15: 10,329,328 (GRCm39)	T601M	possibly damaging	Het
Psen2	A	C	1: 180,073,256 (GRCm39)	S22A	probably benign	Het
Ralgapa1	C	A	12: 55,769,699 (GRCm39)	R764L	probably damaging	Het
Scgb2b11	T	C	7: 31,908,833 (GRCm39)	E89G	probably damaging	Het
Serpina10	T	C	12: 103,594,536 (GRCm39)	I228V	probably benign	Het
Serpinb1a	T	A	13: 33,026,982 (GRCm39)	H320L	probably damaging	Het
Sesn2	C	A	4: 132,225,364 (GRCm39)	Q267H	possibly damaging	Het
Sgsm1	A	T	5: 113,398,877 (GRCm39)	W1019R	probably damaging	Het
Sqle	A	G	15: 59,193,151 (GRCm39)		probably null	Het
Syt14	T	C	1: 192,669,137 (GRCm39)	M39V	probably benign	Het
Tgm7	A	G	2: 120,931,545 (GRCm39)	V206A	probably damaging	Het
Thbs4	T	C	13: 92,897,094 (GRCm39)		probably null	Het
Trpv1	T	C	11: 73,145,077 (GRCm39)	F721S	probably damaging	Het
Ttll10	A	T	4: 156,120,691 (GRCm39)	M433K	probably benign	Het
Vmn1r216	T	C	13: 23,283,695 (GRCm39)	I126T	probably benign	Het
Vmn2r108	G	A	17: 20,690,350 (GRCm39)	S494F	probably benign	Het
Vwa3b	C	T	1: 37,168,020 (GRCm39)	A603V	probably benign	Het
Xirp2	T	A	2: 67,307,210 (GRCm39)	N19K	probably damaging	Het
Zfp397	T	A	18: 24,093,779 (GRCm39)	N421K	probably damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	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
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
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'- GCTTCAGCTTCAAATAGGGC -3'
(R):5'- TCCTCTGTGGGAGTGTCAAC -3'

Sequencing Primer
(F):5'- CTTCAGCTTCAAATAGGGCAGTAG -3'
(R):5'- TGGGAGTGTCAACCTCCACAG -3'

Posted On

2020-07-13