Mutagenetix > Incidental Mutation

Incidental Mutation 'R4893:Acss1'

377375

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

042498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4893 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150460031-150510160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 150471786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 323 (V323F)

Ref Sequence

ENSEMBL: ENSMUSP00000028944 (fasta)

Gene Model

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

AlphaFold

Q99NB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028944
AA Change: V323F

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028944
Gene: ENSMUSG00000027452
AA Change: V323F

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,904 (GRCm39)	I401T	probably damaging	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Adgrf3	T	G	5: 30,405,476 (GRCm39)	D286A	probably benign	Het
Akap5	T	C	12: 76,376,743 (GRCm39)	V718A	probably damaging	Het
Ankk1	A	G	9: 49,326,983 (GRCm39)	V732A	probably benign	Het
Antxr2	T	A	5: 98,151,931 (GRCm39)	D180V	probably damaging	Het
Arfgef2	T	G	2: 166,708,876 (GRCm39)	F1063V	probably benign	Het
Ascl5	A	T	1: 135,978,917 (GRCm39)	I126F	probably damaging	Het
Aspm	T	A	1: 139,417,577 (GRCm39)		probably null	Het
Atf6b	T	C	17: 34,867,586 (GRCm39)	S100P	probably damaging	Het
Baz2a	C	A	10: 127,959,284 (GRCm39)	H1266Q	possibly damaging	Het
Cdh4	A	T	2: 179,489,212 (GRCm39)		probably benign	Het
Celsr3	C	G	9: 108,726,620 (GRCm39)	S3283C	probably damaging	Het
Clca4b	C	T	3: 144,630,934 (GRCm39)	V309M	possibly damaging	Het
Cnbd2	T	C	2: 156,207,104 (GRCm39)	Y436H	probably damaging	Het
Csnk1a1	T	C	18: 61,718,372 (GRCm39)		probably benign	Het
Cstf1	C	T	2: 172,222,444 (GRCm39)	R401C	probably damaging	Het
Cul3	A	G	1: 80,266,567 (GRCm39)	I117T	probably damaging	Het
Dlgap3	A	G	4: 127,088,776 (GRCm39)	D124G	probably damaging	Het
Dnah12	A	G	14: 26,431,325 (GRCm39)	D381G	possibly damaging	Het
Dtna	T	C	18: 23,702,724 (GRCm39)	L85P	probably damaging	Het
Ephb2	A	G	4: 136,387,064 (GRCm39)	I722T	probably damaging	Het
Epn3	A	T	11: 94,382,822 (GRCm39)	F421I	probably damaging	Het
Fam83f	T	A	15: 80,576,156 (GRCm39)	L269H	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Gata4	G	A	14: 63,439,045 (GRCm39)	A139V	probably benign	Het
Glce	T	C	9: 61,975,777 (GRCm39)	D241G	probably benign	Het
Gm17728	A	T	17: 9,641,063 (GRCm39)	I58F	probably benign	Het
Inhba	A	T	13: 16,201,134 (GRCm39)	D232V	possibly damaging	Het
Itgb2l	C	A	16: 96,229,021 (GRCm39)	R394L	probably benign	Het
Klhl14	T	C	18: 21,690,992 (GRCm39)	Y486C	probably damaging	Het
Krt1	A	G	15: 101,758,555 (GRCm39)	I203T	probably damaging	Het
Lims2	T	C	18: 32,074,864 (GRCm39)		probably null	Het
Lrrc31	T	G	3: 30,733,446 (GRCm39)	I423L	probably benign	Het
Map7d1	C	T	4: 126,127,015 (GRCm39)	D732N	unknown	Het
Mau2	A	T	8: 70,483,290 (GRCm39)		probably null	Het
Mbtps1	G	A	8: 120,244,932 (GRCm39)	R840W	probably damaging	Het
Morn3	T	C	5: 123,175,745 (GRCm39)	I214M	probably damaging	Het
Mrpl44	A	G	1: 79,755,582 (GRCm39)	K63E	probably damaging	Het
Muc20	T	C	16: 32,615,042 (GRCm39)	T112A	possibly damaging	Het
Myo6	T	A	9: 80,136,159 (GRCm39)	L94Q	probably damaging	Het
Nos1	C	A	5: 118,090,942 (GRCm39)	T1423K	possibly damaging	Het
Or2l13	A	G	16: 19,305,653 (GRCm39)	T22A	probably benign	Het
Or2t1	T	C	14: 14,328,852 (GRCm38)	V247A	probably damaging	Het
Pdzd2	T	C	15: 12,385,429 (GRCm39)	T1114A	probably benign	Het
Pgm2	T	C	5: 64,263,283 (GRCm39)	V310A	probably benign	Het
Pi4ka	T	C	16: 17,194,900 (GRCm39)	E166G	probably benign	Het
Pign	A	T	1: 105,574,436 (GRCm39)	D303E	probably damaging	Het
Pik3c3	G	T	18: 30,415,053 (GRCm39)	V149L	probably benign	Het
Pkd1l3	A	T	8: 110,365,026 (GRCm39)	Y1126F	probably benign	Het
Pkd2l1	T	A	19: 44,142,210 (GRCm39)	Q516L	probably benign	Het
Pnliprp2	C	A	19: 58,759,853 (GRCm39)	Q355K	probably benign	Het
Pnpla7	T	A	2: 24,943,688 (GRCm39)	Y1314*	probably null	Het
Ppp1r1b	A	G	11: 98,246,170 (GRCm39)	T51A	possibly damaging	Het
Prkcd	A	T	14: 30,321,382 (GRCm39)	S544T	probably damaging	Het
Pusl1	G	A	4: 155,973,998 (GRCm39)	T252I	probably benign	Het
Rnf44	A	G	13: 54,829,745 (GRCm39)		probably null	Het
Slc24a2	A	T	4: 87,145,145 (GRCm39)	V303E	probably damaging	Het
Slc28a2	T	A	2: 122,285,697 (GRCm39)		probably null	Het
Sox8	T	C	17: 25,787,963 (GRCm39)	D162G	probably damaging	Het
Spag1	T	C	15: 36,197,992 (GRCm39)		probably null	Het
Taar6	T	C	10: 23,861,298 (GRCm39)	I83V	probably benign	Het
Tes	T	A	6: 17,104,595 (GRCm39)	C359S	probably damaging	Het
Vmn2r4	A	T	3: 64,313,676 (GRCm39)	L435H	probably damaging	Het
Zfhx3	G	T	8: 109,683,639 (GRCm39)	D3693Y	unknown	Het
Zfp931	G	A	2: 177,709,996 (GRCm39)	P130L	probably damaging	Het
Zfr	T	G	15: 12,136,628 (GRCm39)	V95G	unknown	Het
Zw10	A	G	9: 48,985,325 (GRCm39)	E587G	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
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'- AACTGTCCCCTTGCCAGATG -3'
(R):5'- TCTGTGGAAAACCTCTGCAG -3'

Sequencing Primer
(F):5'- CAGATGCAAGCCTCCAGG -3'
(R):5'- GTGGAAAACCTCTGCAGCCATC -3'

Posted On

2016-03-17