Mutagenetix > Incidental Mutation

Incidental Mutation 'R4718:Acsm2'

354217

Institutional Source

Beutler Lab

Gene Symbol

Acsm2

Ensembl Gene

ENSMUSG00000030945

Gene Name

acyl-CoA synthetase medium-chain family member 2

Synonyms

MMRRC Submission

041985-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4718 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119153563-119199913 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119172826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 147 (Y147F)

Ref Sequence

ENSEMBL: ENSMUSP00000126670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084647] [ENSMUST00000098084] [ENSMUST00000130583] [ENSMUST00000167935]

AlphaFold

Q8K0L3

Predicted Effect

probably damaging
Transcript: ENSMUST00000084647
AA Change: Y147F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: Y147F

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	57	470	8.9e-79	PFAM
Pfam:AMP-binding_C	478	558	3.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098084
AA Change: Y172F

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: Y172F

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	82	495	9.7e-71	PFAM
Pfam:AMP-binding_C	503	583	5.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130583

SMART Domains

Protein: ENSMUSP00000115048
Gene: ENSMUSG00000030945

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	57	145	6.7e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167935
AA Change: Y147F

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: Y147F

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	57	470	9.1e-79	PFAM
Pfam:AMP-binding_C	483	563	3.2e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209069

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	G	A	5: 115,001,615 (GRCm39)		probably null	Het
Alg12	A	T	15: 88,690,256 (GRCm39)	Y413N	probably damaging	Het
Arrdc3	A	T	13: 81,031,986 (GRCm39)	Q73L	possibly damaging	Het
Atp13a5	T	C	16: 29,066,922 (GRCm39)	K1017E	probably damaging	Het
Bmal1	A	T	7: 112,902,568 (GRCm39)	I399F	probably damaging	Het
Bms1	T	C	6: 118,380,196 (GRCm39)	N704D	possibly damaging	Het
Bsph1	T	A	7: 13,206,107 (GRCm39)	Y47*	probably null	Het
Crat	A	T	2: 30,298,176 (GRCm39)	Y174*	probably null	Het
Csmd3	G	T	15: 47,561,546 (GRCm39)	Y2254*	probably null	Het
Cyld	T	A	8: 89,468,933 (GRCm39)	I568N	probably damaging	Het
Dapl1	T	C	2: 59,315,072 (GRCm39)	V7A	probably benign	Het
Dhx29	G	A	13: 113,083,469 (GRCm39)	R508H	unknown	Het
Dnah9	A	G	11: 65,976,299 (GRCm39)	I1250T	probably benign	Het
Dnajb3	C	T	1: 88,133,061 (GRCm39)	D114N	probably benign	Het
Dsg1b	A	G	18: 20,530,986 (GRCm39)	N446D	probably damaging	Het
Dthd1	T	A	5: 62,976,136 (GRCm39)	V270E	probably damaging	Het
F2rl3	A	C	8: 73,489,536 (GRCm39)	R254S	possibly damaging	Het
Fgfr2	A	G	7: 129,863,518 (GRCm39)	S24P	probably damaging	Het
Fpr2	T	C	17: 18,113,598 (GRCm39)	V198A	probably benign	Het
Gbp2b	G	A	3: 142,304,756 (GRCm39)	G64D	probably damaging	Het
Gbp9	T	G	5: 105,231,624 (GRCm39)	N321H	probably damaging	Het
Gk2	T	A	5: 97,603,725 (GRCm39)	Y371F	probably benign	Het
Gm10382	T	C	5: 125,466,462 (GRCm39)		probably benign	Het
Gpatch3	A	G	4: 133,309,855 (GRCm39)	D396G	probably benign	Het
Heatr5a	A	C	12: 51,962,946 (GRCm39)	L985V	possibly damaging	Het
Homer1	T	A	13: 93,528,272 (GRCm39)	V269E	probably damaging	Het
Hspbap1	T	C	16: 35,607,692 (GRCm39)	V66A	probably benign	Het
Ighv7-2	A	C	12: 113,876,089 (GRCm39)	I5M	possibly damaging	Het
Ints7	T	A	1: 191,315,389 (GRCm39)	F108Y	possibly damaging	Het
Itga7	CT	CTGGGGATT	10: 128,776,603 (GRCm39)		probably null	Het
Junb	G	A	8: 85,705,061 (GRCm39)		probably benign	Het
Lcp2	A	G	11: 34,020,992 (GRCm39)	N116S	probably benign	Het
Lrguk	A	G	6: 34,006,431 (GRCm39)	T14A	probably benign	Het
Lrrcc1	T	A	3: 14,601,092 (GRCm39)	H41Q	probably damaging	Het
Ltb	C	A	17: 35,414,313 (GRCm39)		probably null	Het
Mapk7	A	G	11: 61,380,080 (GRCm39)	S693P	possibly damaging	Het
Mbd5	A	T	2: 49,146,414 (GRCm39)	H208L	possibly damaging	Het
Megf9	A	T	4: 70,367,015 (GRCm39)	S322R	possibly damaging	Het
Mgat4c	T	C	10: 102,224,467 (GRCm39)	V227A	probably damaging	Het
Mospd3	G	A	5: 137,597,915 (GRCm39)	T151M	probably benign	Het
Mpl	A	G	4: 118,313,921 (GRCm39)	S115P	probably benign	Het
Myo6	C	A	9: 80,153,799 (GRCm39)	D258E	probably benign	Het
N4bp2	G	A	5: 65,960,806 (GRCm39)	M492I	probably damaging	Het
Ndst3	G	A	3: 123,465,915 (GRCm39)	A19V	probably benign	Het
Nkx2-3	C	A	19: 43,601,082 (GRCm39)	T48K	probably benign	Het
Nlrp4f	T	C	13: 65,342,803 (GRCm39)	T281A	probably benign	Het
Nmur1	A	G	1: 86,315,463 (GRCm39)	V157A	probably damaging	Het
Obscn	A	T	11: 58,912,780 (GRCm39)	F6992L	probably damaging	Het
Ocm	G	T	5: 143,961,375 (GRCm39)	P22Q	possibly damaging	Het
Or5be3	T	C	2: 86,864,239 (GRCm39)	T109A	probably damaging	Het
Osbp2	C	A	11: 3,661,793 (GRCm39)	C753F	probably damaging	Het
Pabpc2	A	G	18: 39,907,556 (GRCm39)	T274A	probably benign	Het
Pamr1	T	A	2: 102,472,681 (GRCm39)	I660N	probably damaging	Het
Papola	C	T	12: 105,786,707 (GRCm39)	T466I	possibly damaging	Het
Pask	T	C	1: 93,249,918 (GRCm39)	E494G	possibly damaging	Het
Pck1	A	T	2: 172,997,014 (GRCm39)	I219F	probably damaging	Het
Pgm3	T	C	9: 86,452,448 (GRCm39)	E4G	probably benign	Het
Pgs1	A	G	11: 117,896,709 (GRCm39)	H462R	probably damaging	Het
Phlpp2	T	A	8: 110,667,452 (GRCm39)	M1327K	probably benign	Het
Pkhd1	C	A	1: 20,151,452 (GRCm39)	G3815W	probably damaging	Het
Plin4	T	A	17: 56,413,981 (GRCm39)	I215F	possibly damaging	Het
Plod1	T	G	4: 148,000,701 (GRCm39)		probably benign	Het
Ppfia2	T	C	10: 106,694,146 (GRCm39)	S707P	probably damaging	Het
Psmd12	A	G	11: 107,377,259 (GRCm39)	Q86R	probably benign	Het
Rasgrf2	C	A	13: 92,138,716 (GRCm39)		probably null	Het
Rictor	T	C	15: 6,812,641 (GRCm39)	S926P	possibly damaging	Het
Rras2	A	T	7: 113,649,584 (GRCm39)	I160N	probably benign	Het
Slc27a6	A	T	18: 58,738,138 (GRCm39)	Y398F	probably benign	Het
Speer4f1	A	G	5: 17,685,422 (GRCm39)	E239G	unknown	Het
Sppl2c	T	C	11: 104,079,141 (GRCm39)	I647T	probably benign	Het
Sptan1	A	G	2: 29,921,074 (GRCm39)	Y2467C	probably damaging	Het
Sptbn1	G	T	11: 30,104,297 (GRCm39)	H136N	probably damaging	Het
Stau2	T	C	1: 16,416,269 (GRCm39)		probably null	Het
Tasor2	A	T	13: 3,624,495 (GRCm39)	D1818E	probably benign	Het
Tet1	T	A	10: 62,649,591 (GRCm39)	I40F	probably damaging	Het
Tnfaip2	A	G	12: 111,412,463 (GRCm39)	E288G	possibly damaging	Het
Trav7-5	T	A	14: 53,768,610 (GRCm39)	H59Q	probably benign	Het
Usp53	T	C	3: 122,727,631 (GRCm39)	I984V	probably benign	Het
Wdfy4	A	G	14: 32,867,273 (GRCm39)	I403T	probably benign	Het
Yars2	T	A	16: 16,127,204 (GRCm39)	M423K	probably benign	Het
Zfp292	A	T	4: 34,819,521 (GRCm39)	V272D	possibly damaging	Het
Zmynd11	A	T	13: 9,739,603 (GRCm39)	V478D	possibly damaging	Het

Other mutations in Acsm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Acsm2	APN	7	119,172,391 (GRCm39)	missense	probably damaging	1.00
IGL00930:Acsm2	APN	7	119,191,533 (GRCm39)	missense	possibly damaging	0.91
IGL01472:Acsm2	APN	7	119,153,759 (GRCm39)	critical splice donor site	probably null
IGL01927:Acsm2	APN	7	119,177,435 (GRCm39)	missense	possibly damaging	0.75
IGL02550:Acsm2	APN	7	119,172,507 (GRCm39)	missense	probably damaging	1.00
IGL02551:Acsm2	APN	7	119,172,507 (GRCm39)	missense	probably damaging	1.00
IGL02818:Acsm2	APN	7	119,172,804 (GRCm39)	splice site	probably null
IGL03064:Acsm2	APN	7	119,174,864 (GRCm39)	missense	probably damaging	0.98
PIT4469001:Acsm2	UTSW	7	119,177,408 (GRCm39)	missense	possibly damaging	0.51
R0395:Acsm2	UTSW	7	119,174,969 (GRCm39)	missense	probably damaging	1.00
R0416:Acsm2	UTSW	7	119,162,779 (GRCm39)	missense	probably benign	0.00
R0783:Acsm2	UTSW	7	119,172,340 (GRCm39)	missense	probably damaging	1.00
R1252:Acsm2	UTSW	7	119,172,468 (GRCm39)	missense	probably benign	0.15
R1432:Acsm2	UTSW	7	119,172,798 (GRCm39)	missense	possibly damaging	0.83
R1494:Acsm2	UTSW	7	119,174,855 (GRCm39)	missense	probably damaging	1.00
R1495:Acsm2	UTSW	7	119,177,349 (GRCm39)	missense	probably damaging	1.00
R1642:Acsm2	UTSW	7	119,162,860 (GRCm39)	missense	probably damaging	1.00
R1702:Acsm2	UTSW	7	119,172,787 (GRCm39)	missense	possibly damaging	0.88
R2082:Acsm2	UTSW	7	119,179,857 (GRCm39)	missense	probably benign	0.00
R2420:Acsm2	UTSW	7	119,162,857 (GRCm39)	missense	probably damaging	1.00
R3612:Acsm2	UTSW	7	119,190,553 (GRCm39)	missense	probably damaging	0.97
R4396:Acsm2	UTSW	7	119,195,143 (GRCm39)	missense	probably damaging	1.00
R4433:Acsm2	UTSW	7	119,153,732 (GRCm39)	missense	unknown
R4568:Acsm2	UTSW	7	119,162,740 (GRCm39)	missense	probably benign	0.00
R5025:Acsm2	UTSW	7	119,153,719 (GRCm39)	missense	unknown
R5497:Acsm2	UTSW	7	119,172,543 (GRCm39)	missense	possibly damaging	0.69
R5509:Acsm2	UTSW	7	119,172,840 (GRCm39)	missense	probably damaging	1.00
R5682:Acsm2	UTSW	7	119,162,774 (GRCm39)	missense	probably benign	0.12
R5941:Acsm2	UTSW	7	119,190,321 (GRCm39)	missense	probably damaging	1.00
R5956:Acsm2	UTSW	7	119,153,704 (GRCm39)	missense	unknown
R6129:Acsm2	UTSW	7	119,190,470 (GRCm39)	splice site	probably null
R6212:Acsm2	UTSW	7	119,172,505 (GRCm39)	missense	probably damaging	1.00
R7026:Acsm2	UTSW	7	119,191,450 (GRCm39)	missense	probably damaging	1.00
R7227:Acsm2	UTSW	7	119,190,556 (GRCm39)	missense	probably benign
R7903:Acsm2	UTSW	7	119,195,215 (GRCm39)	missense	probably benign	0.22
R7954:Acsm2	UTSW	7	119,179,952 (GRCm39)	missense	probably damaging	1.00
R8002:Acsm2	UTSW	7	119,172,480 (GRCm39)	missense	possibly damaging	0.81
R8066:Acsm2	UTSW	7	119,190,548 (GRCm39)	missense	probably damaging	0.99
R9185:Acsm2	UTSW	7	119,177,421 (GRCm39)	missense	possibly damaging	0.96
R9200:Acsm2	UTSW	7	119,179,839 (GRCm39)	nonsense	probably null
R9324:Acsm2	UTSW	7	119,179,856 (GRCm39)	missense	probably benign
R9507:Acsm2	UTSW	7	119,179,939 (GRCm39)	missense	probably benign
R9623:Acsm2	UTSW	7	119,181,975 (GRCm39)	missense	probably benign	0.00
Z1177:Acsm2	UTSW	7	119,177,316 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTGTGAAGGCAATGGAGG -3'
(R):5'- AAGCTGGCTAAGACAAGAGATACTC -3'

Sequencing Primer
(F):5'- GAAACCCCCATAGAATGTGCTGTTC -3'
(R):5'- CTCACTTTAGCAATGCCTTGAAG -3'

Posted On

2015-10-21