Mutagenetix > Incidental Mutation

Incidental Mutation 'R8938:Acsm1'

680787

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

068711-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8938 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119216980-119261738 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119258385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 493 (S493P)

Ref Sequence

ENSEMBL: ENSMUSP00000036140 (fasta)

Gene Model

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

AlphaFold

Q91VA0

Predicted Effect

probably damaging
Transcript: ENSMUST00000047929
AA Change: S493P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036140
Gene: ENSMUSG00000033533
AA Change: S493P

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 damaging
Transcript: ENSMUST00000135683
AA Change: S466P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120146
Gene: ENSMUSG00000033533
AA Change: S466P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	G	4: 73,861,424 (GRCm39)	S59P	probably damaging	Het
Abcc8	G	T	7: 45,816,418 (GRCm39)	H241N		Het
Agtr1a	T	C	13: 30,565,049 (GRCm39)	I38T	probably damaging	Het
Ahnak	T	C	19: 8,989,099 (GRCm39)	I3461T	probably benign	Het
Bbox1	T	A	2: 110,100,529 (GRCm39)	T223S	probably benign	Het
Brip1	T	C	11: 86,039,227 (GRCm39)	K436E	possibly damaging	Het
Cdhr1	T	A	14: 36,809,405 (GRCm39)	T299S	probably benign	Het
Cr2	T	C	1: 194,853,424 (GRCm39)	D18G	probably damaging	Het
Cyp51	T	C	5: 4,150,202 (GRCm39)	I174V	probably benign	Het
Dnah2	A	T	11: 69,328,754 (GRCm39)	Y3290N	probably damaging	Het
Fcho1	T	G	8: 72,169,790 (GRCm39)	K111T	possibly damaging	Het
Firrm	C	T	1: 163,789,541 (GRCm39)	V665I	probably benign	Het
Gli2	A	T	1: 118,763,935 (GRCm39)	D1405E	probably damaging	Het
Gsg1l2	A	G	11: 67,680,399 (GRCm39)	H278R	possibly damaging	Het
H2-K2	T	C	17: 34,216,294 (GRCm39)	H284R	probably damaging	Het
Ighv1-62-1	C	T	12: 115,350,735 (GRCm39)	W5*	probably null	Het
Ighv1-81	T	A	12: 115,883,988 (GRCm39)	T88S	probably benign	Het
Igkv4-57	T	A	6: 69,553,256 (GRCm39)	M19L	probably benign	Het
Klk1b3	G	T	7: 43,849,729 (GRCm39)	W38L	probably damaging	Het
Lama3	T	C	18: 12,689,762 (GRCm39)	S2835P	probably damaging	Het
Lhx8	T	C	3: 154,028,024 (GRCm39)	N145S	possibly damaging	Het
Mfsd6	A	T	1: 52,748,454 (GRCm39)	L137H	probably damaging	Het
Mmp12	GTAATAATAATAATAATAAT	GTAATAATAATAATAAT	9: 7,348,446 (GRCm39)		probably benign	Het
Mpst	A	T	15: 78,294,270 (GRCm39)	M1L	possibly damaging	Het
Mrpl2	T	A	17: 46,957,238 (GRCm39)		probably benign	Het
Mybpc3	T	C	2: 90,954,294 (GRCm39)	V224A	probably damaging	Het
Nol4l	T	C	2: 153,262,651 (GRCm39)	D63G	probably damaging	Het
Or8g36	A	T	9: 39,422,910 (GRCm39)	Y35*	probably null	Het
Patz1	C	T	11: 3,240,660 (GRCm39)	T16I	probably damaging	Het
Pcdha3	A	G	18: 37,080,154 (GRCm39)	I299V	probably benign	Het
Pcdhb18	G	T	18: 37,623,537 (GRCm39)	R289L	probably benign	Het
Pcdhga6	A	T	18: 37,841,562 (GRCm39)	R427S	probably benign	Het
Pcdhga8	T	A	18: 37,859,955 (GRCm39)	V337E	probably damaging	Het
Pik3c2b	T	A	1: 133,016,068 (GRCm39)	W877R	probably benign	Het
Plcg2	T	C	8: 118,231,114 (GRCm39)		probably null	Het
Prp2	C	A	6: 132,577,581 (GRCm39)	H289Q	unknown	Het
Rac2	A	G	15: 78,446,112 (GRCm39)	L192P	probably damaging	Het
Rfx4	T	A	10: 84,675,936 (GRCm39)	Y51N	probably damaging	Het
Rptn	A	T	3: 93,302,332 (GRCm39)	Q16L	possibly damaging	Het
Ryr1	C	T	7: 28,801,358 (GRCm39)	G802D	probably damaging	Het
Shroom3	T	C	5: 93,090,930 (GRCm39)	S1146P	probably damaging	Het
Stam	T	C	2: 14,133,984 (GRCm39)		probably null	Het
Vmn2r100	A	G	17: 19,751,825 (GRCm39)	M623V	probably benign	Het
Wdr90	G	A	17: 26,076,146 (GRCm39)	R104C		Het
Xkr7	T	C	2: 152,874,133 (GRCm39)	F67L	probably damaging	Het
Zfp451	A	T	1: 33,842,063 (GRCm39)		probably benign	Het
Zfp609	C	T	9: 65,610,561 (GRCm39)	A801T	possibly damaging	Het
Zfp974	A	T	7: 27,610,311 (GRCm39)	H471Q	possibly 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
R5329:Acsm1	UTSW	7	119,255,274 (GRCm39)	missense	probably benign	0.03
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
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'- GGGTCCAAATTACTACTCTCCGG -3'
(R):5'- GGCAGCTCATTCAATCTCAACC -3'

Sequencing Primer
(F):5'- AATTACTACTCTCCGGTCTACAAC -3'
(R):5'- CACACTGTCCATGCATAAGTG -3'

Posted On

2021-08-31