Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02189:Acss1'

283798

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acss1

Ensembl Gene

ENSMUSG00000027452

Gene Name

acyl-CoA synthetase short-chain family member 1

Synonyms

Acas2, 1110032O15Rik, AceCS2, Acas2l

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02189

Quality Score

Status

Chromosome

Chromosomal Location

150460031-150510160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150471788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 322 (D322G)

Ref Sequence

ENSEMBL: ENSMUSP00000028944 (fasta)

Gene Model

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

AlphaFold

Q99NB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028944
AA Change: D322G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028944
Gene: ENSMUSG00000027452
AA Change: D322G

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

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	T	11: 48,838,248 (GRCm39)	Y780N	probably benign	Het
Aadacl2	T	C	3: 59,932,609 (GRCm39)	S375P	probably damaging	Het
Abi1	A	C	2: 22,930,076 (GRCm39)	M1R	probably null	Het
Adam22	G	A	5: 8,380,029 (GRCm39)	R90W	possibly damaging	Het
Agtpbp1	T	C	13: 59,648,275 (GRCm39)	H515R	probably benign	Het
C3	T	C	17: 57,527,113 (GRCm39)	K779E	probably benign	Het
Cfhr2	A	G	1: 139,749,497 (GRCm39)	Y162H	probably damaging	Het
Chchd5	T	C	2: 128,975,188 (GRCm39)		probably benign	Het
Csmd1	T	A	8: 16,321,620 (GRCm39)	I493F	probably damaging	Het
Daam1	A	T	12: 71,993,059 (GRCm39)	R349S	unknown	Het
Dnah11	T	C	12: 118,046,314 (GRCm39)	E1708G	probably benign	Het
Epg5	A	G	18: 78,056,085 (GRCm39)	D1753G	probably damaging	Het
Flt4	T	G	11: 49,516,830 (GRCm39)	C206G	probably damaging	Het
Fscn1	G	T	5: 142,946,375 (GRCm39)	A58S	possibly damaging	Het
Gapvd1	A	T	2: 34,618,556 (GRCm39)	N272K	probably damaging	Het
Gem	T	A	4: 11,706,121 (GRCm39)	S70T	possibly damaging	Het
H2-K2	A	G	17: 34,218,466 (GRCm39)	L150P	probably damaging	Het
Hsd3b3	T	A	3: 98,649,454 (GRCm39)	I290L	probably benign	Het
Iws1	A	G	18: 32,226,178 (GRCm39)	R689G	probably damaging	Het
Klk1b22	A	G	7: 43,765,630 (GRCm39)		probably null	Het
Klra4	T	A	6: 130,021,105 (GRCm39)	D230V	possibly damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Liat1	A	G	11: 75,891,056 (GRCm39)	K57E	probably damaging	Het
Lilra5	A	T	7: 4,240,968 (GRCm39)	M21L	probably benign	Het
Lrrc20	T	A	10: 61,362,887 (GRCm39)	V44D	possibly damaging	Het
Mtx1	T	G	3: 89,116,624 (GRCm39)	M426L	probably damaging	Het
Mylk2	C	T	2: 152,757,074 (GRCm39)	P283L	probably damaging	Het
Mynn	T	A	3: 30,667,693 (GRCm39)		probably benign	Het
Odr4	G	T	1: 150,247,784 (GRCm39)	N356K	possibly damaging	Het
Or4c1	A	C	2: 89,133,641 (GRCm39)	C98W	probably damaging	Het
Parl	T	A	16: 20,116,453 (GRCm39)	I116F	probably damaging	Het
Pdlim3	T	C	8: 46,338,630 (GRCm39)	V5A	probably damaging	Het
Pld1	G	A	3: 28,174,932 (GRCm39)	V857I	probably benign	Het
Ptprf	T	A	4: 118,070,839 (GRCm39)		probably benign	Het
Ptprn	A	G	1: 75,235,139 (GRCm39)	S170P	possibly damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rps27a	C	A	11: 29,496,772 (GRCm39)	Q40H	probably damaging	Het
Ryr3	A	T	2: 112,585,183 (GRCm39)		probably benign	Het
Scube3	G	T	17: 28,381,970 (GRCm39)	C332F	probably benign	Het
Sh3glb2	T	C	2: 30,235,351 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,123,693 (GRCm39)	E818G	probably benign	Het
Slc16a3	G	A	11: 120,847,597 (GRCm39)	V262I	probably benign	Het
Sptbn1	T	A	11: 30,067,871 (GRCm39)	D1781V	probably damaging	Het
Ssr1	C	T	13: 38,171,492 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,064,283 (GRCm39)	L2442S	probably benign	Het
Tonsl	A	T	15: 76,507,378 (GRCm39)	V94D	possibly damaging	Het
Ttc22	A	T	4: 106,496,354 (GRCm39)	H468L	probably benign	Het
Ttc27	C	T	17: 75,036,894 (GRCm39)	T189M	probably damaging	Het
Ttn	T	C	2: 76,720,500 (GRCm39)		probably benign	Het
Ttn	T	G	2: 76,590,239 (GRCm39)	I21157L	probably damaging	Het
Vav3	T	A	3: 109,433,276 (GRCm39)		probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	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
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
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

Posted On

2015-04-16