Mutagenetix > Incidental Mutation

Incidental Mutation 'R5329:Acsm1'

422219

Institutional Source

Beutler Lab

Gene Symbol

Acsm1

Ensembl Gene

ENSMUSG00000033533

Gene Name

acyl-CoA synthetase medium-chain family member 1

Synonyms

Macs, Bucs1

MMRRC Submission

042911-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119216980-119261738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119255274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 392 (T392A)

Ref Sequence

ENSEMBL: ENSMUSP00000120146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047929] [ENSMUST00000135683]

AlphaFold

Q91VA0

Predicted Effect

probably benign
Transcript: ENSMUST00000047929
AA Change: T419A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000036140
Gene: ENSMUSG00000033533
AA Change: T419A

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	58	471	8.1e-70	PFAM
Pfam:AMP-binding_C	479	559	1.7e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135683
AA Change: T392A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000120146
Gene: ENSMUSG00000033533
AA Change: T392A

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	58	371	6.8e-51	PFAM
Pfam:AMP-binding	368	444	9e-15	PFAM
Pfam:AMP-binding_C	452	531	5.4e-22	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430005L14Rik	G	A	4: 154,044,284 (GRCm39)	V32I	probably benign	Het
Abcg4	A	T	9: 44,190,842 (GRCm39)	M19K	probably benign	Het
Adam19	A	T	11: 46,015,853 (GRCm39)	I338F	probably damaging	Het
Adamdec1	C	T	14: 68,807,612 (GRCm39)	M349I	probably damaging	Het
Arhgef11	T	A	3: 87,587,059 (GRCm39)		probably benign	Het
Bptf	T	C	11: 106,964,121 (GRCm39)	D1628G	probably benign	Het
Camk2d	C	T	3: 126,391,131 (GRCm39)	Q15*	probably null	Het
Camk2g	T	G	14: 20,843,999 (GRCm39)	D12A	possibly damaging	Het
Cemip2	T	C	19: 21,775,693 (GRCm39)	I312T	probably benign	Het
Cgn	T	C	3: 94,687,300 (GRCm39)	M1V	probably null	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Dcbld1	C	A	10: 52,160,353 (GRCm39)		probably benign	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Efcab3	T	G	11: 104,644,632 (GRCm39)		probably null	Het
Espl1	T	A	15: 102,220,953 (GRCm39)	L903Q	probably damaging	Het
Gm5117	T	A	8: 32,227,910 (GRCm39)		noncoding transcript	Het
Gm5150	T	C	3: 16,017,588 (GRCm39)	T228A	probably benign	Het
Gm5435	A	T	12: 82,543,250 (GRCm39)		noncoding transcript	Het
Gpr156	T	A	16: 37,825,810 (GRCm39)	C676S	probably benign	Het
Gstt3	C	T	10: 75,610,685 (GRCm39)	E230K	possibly damaging	Het
Jarid2	A	G	13: 45,059,747 (GRCm39)	I660V	possibly damaging	Het
Kif13a	A	G	13: 46,928,877 (GRCm39)		probably null	Het
Kntc1	T	A	5: 123,902,254 (GRCm39)	V299D	probably benign	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lipk	T	A	19: 33,997,613 (GRCm39)		probably null	Het
Loxhd1	T	C	18: 77,420,378 (GRCm39)	L334P	probably damaging	Het
Macc1	T	A	12: 119,410,212 (GRCm39)	Y327N	probably damaging	Het
Man2a2	G	A	7: 80,010,876 (GRCm39)	S705L	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897 (GRCm39)	I251V	possibly damaging	Het
Ncam2	A	T	16: 81,231,707 (GRCm39)	Q57L	probably damaging	Het
Nedd1	T	C	10: 92,522,102 (GRCm39)	E645G	probably damaging	Het
Nfatc1	A	T	18: 80,751,332 (GRCm39)	M1K	probably null	Het
Nlrp9b	A	T	7: 19,757,916 (GRCm39)	R384S	probably damaging	Het
Nrxn3	A	G	12: 89,780,354 (GRCm39)	H62R	possibly damaging	Het
Or2h2b-ps1	T	A	17: 37,480,891 (GRCm39)	Y216F	probably damaging	Het
Or4c125	T	A	2: 89,169,803 (GRCm39)	Y281F	probably damaging	Het
Or51i1	T	C	7: 103,671,204 (GRCm39)	H107R	probably damaging	Het
Or8b39	A	T	9: 37,996,422 (GRCm39)	M97L	probably benign	Het
Or8h7	A	G	2: 86,720,964 (GRCm39)	L185S	probably damaging	Het
Pdzph1	T	A	17: 59,281,875 (GRCm39)	I136F	probably damaging	Het
Pigg	T	C	5: 108,462,026 (GRCm39)	I119T	probably damaging	Het
R3hdm2	A	G	10: 127,294,762 (GRCm39)	H215R	probably damaging	Het
Septin14	C	T	5: 129,762,978 (GRCm39)		probably null	Het
Slc9a3	T	C	13: 74,299,079 (GRCm39)	M166T	possibly damaging	Het
Spock3	A	G	8: 63,798,816 (GRCm39)	D279G	probably damaging	Het
Suco	T	C	1: 161,660,999 (GRCm39)	I967V	probably damaging	Het
Tgtp1	A	G	11: 48,878,003 (GRCm39)	L234P	probably damaging	Het
Tmem176a	A	G	6: 48,819,151 (GRCm39)	D4G	probably benign	Het
Ugt1a10	G	A	1: 88,143,976 (GRCm39)	A199T	probably damaging	Het
Uox	A	G	3: 146,330,300 (GRCm39)	D152G	probably damaging	Het
Vmn1r35	C	T	6: 66,656,490 (GRCm39)	W60*	probably null	Het
Vmn2r103	T	C	17: 20,032,433 (GRCm39)	C736R	probably damaging	Het

Other mutations in Acsm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00775:Acsm1	APN	7	119,257,524 (GRCm39)	missense	possibly damaging	0.46
IGL02121:Acsm1	APN	7	119,257,635 (GRCm39)	missense	possibly damaging	0.76
IGL02480:Acsm1	APN	7	119,255,265 (GRCm39)	missense	possibly damaging	0.94
IGL02806:Acsm1	APN	7	119,235,861 (GRCm39)	missense	probably benign	0.02
IGL03126:Acsm1	APN	7	119,232,403 (GRCm39)	missense	possibly damaging	0.74
wallball	UTSW	7	119,239,917 (GRCm39)	missense	possibly damaging	0.83
R0025:Acsm1	UTSW	7	119,257,538 (GRCm39)	missense	probably damaging	1.00
R0025:Acsm1	UTSW	7	119,257,538 (GRCm39)	missense	probably damaging	1.00
R0090:Acsm1	UTSW	7	119,261,412 (GRCm39)	splice site	probably benign
R0396:Acsm1	UTSW	7	119,235,678 (GRCm39)	missense	probably damaging	1.00
R0491:Acsm1	UTSW	7	119,239,920 (GRCm39)	missense	probably damaging	1.00
R0575:Acsm1	UTSW	7	119,258,424 (GRCm39)	critical splice donor site	probably null
R1220:Acsm1	UTSW	7	119,257,537 (GRCm39)	missense	probably benign	0.00
R1366:Acsm1	UTSW	7	119,257,511 (GRCm39)	splice site	probably benign
R1624:Acsm1	UTSW	7	119,251,796 (GRCm39)	missense	probably damaging	1.00
R2049:Acsm1	UTSW	7	119,255,262 (GRCm39)	missense	probably damaging	1.00
R2937:Acsm1	UTSW	7	119,258,350 (GRCm39)	missense	probably damaging	1.00
R4657:Acsm1	UTSW	7	119,239,917 (GRCm39)	missense	possibly damaging	0.83
R4814:Acsm1	UTSW	7	119,254,687 (GRCm39)	missense	probably benign
R5153:Acsm1	UTSW	7	119,239,950 (GRCm39)	missense	possibly damaging	0.72
R5471:Acsm1	UTSW	7	119,259,829 (GRCm39)	missense	probably damaging	1.00
R5645:Acsm1	UTSW	7	119,239,920 (GRCm39)	missense	probably damaging	1.00
R6153:Acsm1	UTSW	7	119,232,289 (GRCm39)	missense	probably damaging	1.00
R6406:Acsm1	UTSW	7	119,261,484 (GRCm39)	missense	probably benign	0.01
R7068:Acsm1	UTSW	7	119,221,803 (GRCm39)	missense	probably benign
R7311:Acsm1	UTSW	7	119,237,305 (GRCm39)	missense	probably damaging	1.00
R8293:Acsm1	UTSW	7	119,237,319 (GRCm39)	missense	possibly damaging	0.83
R8486:Acsm1	UTSW	7	119,259,880 (GRCm39)	missense	probably damaging	0.98
R8785:Acsm1	UTSW	7	119,261,453 (GRCm39)	missense	probably benign	0.00
R8938:Acsm1	UTSW	7	119,258,385 (GRCm39)	missense	probably damaging	1.00
R8939:Acsm1	UTSW	7	119,239,868 (GRCm39)	missense	probably benign	0.00
R9008:Acsm1	UTSW	7	119,258,325 (GRCm39)	missense	probably benign	0.34
Z1177:Acsm1	UTSW	7	119,261,501 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACGGTTTGTCCATGAGTAGG -3'
(R):5'- TAGCTCTTAAATCCCCAAGTGG -3'

Sequencing Primer
(F):5'- ATGAGTAGGTCCCATTTGCC -3'
(R):5'- AGGACTGTGACAATGTGCC -3'

Posted On

2016-08-04