Mutagenetix > Incidental Mutation

Incidental Mutation 'R0058:Acss1'

34320

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

038352-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150460031-150510160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150470459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 394 (W394R)

Ref Sequence

ENSEMBL: ENSMUSP00000028944 (fasta)

Gene Model

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

AlphaFold

Q99NB1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028944
AA Change: W394R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028944
Gene: ENSMUSG00000027452
AA Change: W394R

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

0.3501

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	T	G	5: 137,289,104 (GRCm39)	V270G	probably damaging	Het
Adgrv1	A	G	13: 81,330,791 (GRCm39)	V6088A	possibly damaging	Het
Ankrd36	A	G	11: 5,580,691 (GRCm39)		probably benign	Het
Anxa1	A	T	19: 20,361,141 (GRCm39)	Y84N	probably damaging	Het
Arnt2	G	A	7: 83,996,738 (GRCm39)	R63C	probably damaging	Het
Avpr1b	A	G	1: 131,527,524 (GRCm39)	T16A	probably benign	Het
Bpifb1	G	A	2: 154,048,460 (GRCm39)	R165H	possibly damaging	Het
Cables1	A	G	18: 12,056,470 (GRCm39)	E316G	possibly damaging	Het
Cadm1	A	T	9: 47,761,629 (GRCm39)	I427L	probably damaging	Het
Ccdc97	T	C	7: 25,415,405 (GRCm39)	D86G	probably benign	Het
Cgnl1	C	A	9: 71,548,679 (GRCm39)	D1081Y	probably damaging	Het
Cgnl1	T	A	9: 71,632,122 (GRCm39)	R410W	probably damaging	Het
Cntnap4	G	A	8: 113,512,416 (GRCm39)	E593K	probably damaging	Het
Dazap1	T	C	10: 80,097,415 (GRCm39)		probably benign	Het
Dip2b	A	G	15: 100,113,121 (GRCm39)	E1512G	probably benign	Het
Dock1	G	A	7: 134,710,490 (GRCm39)	V1171M	possibly damaging	Het
Dock5	A	T	14: 68,018,485 (GRCm39)	F1230Y	probably benign	Het
Dym	G	A	18: 75,176,243 (GRCm39)	E15K	possibly damaging	Het
Ednra	C	A	8: 78,393,951 (GRCm39)		probably null	Het
Faf1	A	G	4: 109,593,821 (GRCm39)	Q133R	probably benign	Het
Fbxw28	A	G	9: 109,157,279 (GRCm39)	I323T	probably benign	Het
Fcer2a	T	C	8: 3,738,111 (GRCm39)		probably benign	Het
Fmo2	A	T	1: 162,713,893 (GRCm39)	S204R	probably benign	Het
Frmd4b	A	G	6: 97,400,460 (GRCm39)	V63A	probably damaging	Het
Fzd8	G	A	18: 9,213,985 (GRCm39)	A356T	possibly damaging	Het
Ghitm	A	G	14: 36,853,549 (GRCm39)	L97P	probably damaging	Het
Gins4	A	G	8: 23,719,526 (GRCm39)		probably benign	Het
Golga3	T	A	5: 110,350,643 (GRCm39)	F766Y	possibly damaging	Het
Hapln1	T	C	13: 89,755,997 (GRCm39)	I267T	probably benign	Het
Helz	A	T	11: 107,563,384 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,820,231 (GRCm39)	V2851A	possibly damaging	Het
Igkv8-18	G	A	6: 70,333,105 (GRCm39)		probably benign	Het
Igll1	A	T	16: 16,681,740 (GRCm39)	V5E	probably benign	Het
Irx3	T	C	8: 92,527,168 (GRCm39)	T179A	possibly damaging	Het
Kif16b	A	G	2: 142,699,225 (GRCm39)		probably null	Het
Limk1	A	T	5: 134,688,725 (GRCm39)	W507R	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mtif3	C	A	5: 146,893,731 (GRCm39)	V159F	probably benign	Het
Myh6	C	T	14: 55,200,861 (GRCm39)	R169Q	probably damaging	Het
Ncoa7	T	A	10: 30,523,537 (GRCm39)	D887V	probably damaging	Het
Obox7	C	T	7: 14,398,313 (GRCm39)	P76S	probably benign	Het
Or10ak12	A	G	4: 118,666,677 (GRCm39)	M128T	probably benign	Het
Or11l3	A	T	11: 58,516,494 (GRCm39)	I126N	probably damaging	Het
Pitpnm2	G	A	5: 124,262,093 (GRCm39)	A862V	probably damaging	Het
Pkd1	G	C	17: 24,783,677 (GRCm39)	A162P	probably benign	Het
Plce1	A	G	19: 38,513,628 (GRCm39)	D309G	possibly damaging	Het
Plk4	T	C	3: 40,760,307 (GRCm39)	V401A	probably benign	Het
Prdx3	T	C	19: 60,862,950 (GRCm39)		probably benign	Het
Prrc2c	C	T	1: 162,526,453 (GRCm39)	V253I	unknown	Het
Ranbp2	T	A	10: 58,316,353 (GRCm39)	S2358T	probably damaging	Het
Setd2	T	A	9: 110,423,494 (GRCm39)	V2183E	probably damaging	Het
Sgsm1	T	A	5: 113,432,953 (GRCm39)	S232C	probably damaging	Het
Skint6	A	T	4: 112,904,012 (GRCm39)		probably benign	Het
Slc15a2	A	G	16: 36,574,909 (GRCm39)	I531T	probably benign	Het
Slc36a1	C	T	11: 55,112,820 (GRCm39)		probably benign	Het
Sorbs2	C	A	8: 46,249,300 (GRCm39)	D831E	probably damaging	Het
Sorbs2	T	A	8: 46,238,291 (GRCm39)		probably null	Het
Sptan1	T	C	2: 29,883,708 (GRCm39)		probably null	Het
Stam	T	C	2: 14,142,952 (GRCm39)	C336R	probably damaging	Het
Stil	G	T	4: 114,898,495 (GRCm39)	A1042S	probably damaging	Het
Stxbp5l	T	A	16: 36,962,736 (GRCm39)	D773V	possibly damaging	Het
Sugct	A	T	13: 17,847,166 (GRCm39)	L39Q	probably damaging	Het
Tep1	A	G	14: 51,071,522 (GRCm39)	V2041A	possibly damaging	Het
Tex15	C	T	8: 34,071,530 (GRCm39)		probably benign	Het
Tlr9	T	G	9: 106,102,164 (GRCm39)	L485R	possibly damaging	Het
Tmem207	A	G	16: 26,343,579 (GRCm39)		probably benign	Het
Triml2	T	C	8: 43,638,306 (GRCm39)		probably benign	Het
Trip6	A	G	5: 137,309,107 (GRCm39)		probably benign	Het
Tspear	T	C	10: 77,705,465 (GRCm39)	F288L	probably benign	Het
Vmn1r179	C	T	7: 23,628,592 (GRCm39)	T261I	possibly damaging	Het
Zfp644	A	T	5: 106,784,869 (GRCm39)	S559R	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
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

Predicted Primers

PCR Primer
(F):5'- TGCTGAAACAGTGAAGTGCCCC -3'
(R):5'- GCAGAAACGTCTGAAGCTGATCCC -3'

Sequencing Primer
(F):5'- GTGAAGTGCCCCCACCC -3'
(R):5'- GGGACCCCTTTCTTCAAGGATG -3'

Posted On

2013-05-09