Mutagenetix > Incidental Mutation

Incidental Mutation 'R1702:Acsm2'

189804

Institutional Source

Beutler Lab

Gene Symbol

Acsm2

Ensembl Gene

ENSMUSG00000030945

Gene Name

acyl-CoA synthetase medium-chain family member 2

Synonyms

MMRRC Submission

039735-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1702 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119153563-119199913 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119172787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 134 (M134K)

Ref Sequence

ENSEMBL: ENSMUSP00000126670 (fasta)

Gene Model

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

AlphaFold

Q8K0L3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084647
AA Change: M134K

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: M134K

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

possibly damaging
Transcript: ENSMUST00000098084
AA Change: M159K

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: M159K

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

possibly damaging
Transcript: ENSMUST00000167935
AA Change: M134K

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: M134K

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: 98.6%
10x: 96.9%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,981,925 (GRCm39)	V1080A	probably benign	Het
Abcg4	A	C	9: 44,186,370 (GRCm39)	V553G	probably damaging	Het
Ache	T	C	5: 137,289,251 (GRCm39)	V319A	possibly damaging	Het
Ank2	A	T	3: 126,749,548 (GRCm39)	S494T	probably benign	Het
Asic3	A	T	5: 24,620,454 (GRCm39)	T202S	probably damaging	Het
Baiap3	T	A	17: 25,463,779 (GRCm39)	H886L	probably damaging	Het
Bltp2	T	A	11: 78,179,854 (GRCm39)	C2126S	probably damaging	Het
Cidea	T	A	18: 67,499,491 (GRCm39)	I126K	probably damaging	Het
Cmklr1	T	G	5: 113,751,903 (GRCm39)	K366T	probably benign	Het
Cntrl	A	T	2: 35,061,848 (GRCm39)		probably null	Het
Crhr2	A	G	6: 55,069,520 (GRCm39)	F378S	probably damaging	Het
Deaf1	C	G	7: 140,894,867 (GRCm39)	R303T	probably damaging	Het
Dnah9	T	A	11: 65,976,021 (GRCm39)	N1343Y	possibly damaging	Het
Dop1b	A	G	16: 93,544,509 (GRCm39)	K99E	possibly damaging	Het
Dpp4	A	T	2: 62,216,773 (GRCm39)		probably null	Het
Dst	T	C	1: 34,206,421 (GRCm39)	V598A	probably damaging	Het
Ece2	C	T	16: 20,449,996 (GRCm39)	R136C	probably damaging	Het
Efcab3	C	T	11: 104,581,832 (GRCm39)	P58L	probably benign	Het
Egf	C	A	3: 129,484,460 (GRCm39)	V453L	probably benign	Het
Egr3	T	A	14: 70,317,216 (GRCm39)	F342L	probably damaging	Het
Eif2ak2	A	T	17: 79,164,063 (GRCm39)	I434N	probably damaging	Het
Emc1	A	G	4: 139,102,512 (GRCm39)	T936A	probably damaging	Het
Fmod	A	T	1: 133,968,500 (GRCm39)	E180V	probably damaging	Het
Gabrg3	T	C	7: 56,634,848 (GRCm39)	T112A	probably damaging	Het
Gak	T	C	5: 108,754,242 (GRCm39)		probably null	Het
Gas2	T	A	7: 51,603,089 (GRCm39)		probably null	Het
Gm2381	T	A	7: 42,469,655 (GRCm39)	Q156H	probably benign	Het
Golga2	T	A	2: 32,189,287 (GRCm39)	S273T	probably damaging	Het
Homez	T	A	14: 55,094,452 (GRCm39)	T419S	probably damaging	Het
Igfbp6	T	A	15: 102,056,617 (GRCm39)	Y184*	probably null	Het
Il11	A	G	7: 4,776,733 (GRCm39)	S86P	probably damaging	Het
Itgal	A	G	7: 126,904,197 (GRCm39)	N270S	probably benign	Het
Lama2	T	C	10: 27,066,525 (GRCm39)	R1119G	probably benign	Het
Lamp3	G	T	16: 19,494,822 (GRCm39)	N294K	probably benign	Het
Mars1	T	C	10: 127,145,948 (GRCm39)	I113M	possibly damaging	Het
Mgat5b	A	G	11: 116,839,485 (GRCm39)	T334A	possibly damaging	Het
Mis18bp1	A	G	12: 65,208,518 (GRCm39)	I65T	probably benign	Het
Mmrn2	A	T	14: 34,119,871 (GRCm39)	N247I	probably benign	Het
Muc6	G	T	7: 141,236,752 (GRCm39)	N322K	probably damaging	Het
Mx2	A	G	16: 97,359,883 (GRCm39)	H551R	probably benign	Het
Mylk	T	A	16: 34,742,314 (GRCm39)	V942E	probably benign	Het
Nes	A	G	3: 87,883,286 (GRCm39)	E515G	probably benign	Het
Nfatc3	T	G	8: 106,818,792 (GRCm39)	S503R	probably damaging	Het
Nkain3	C	A	4: 20,158,339 (GRCm39)		probably null	Het
Noxa1	A	G	2: 24,982,596 (GRCm39)	V73A	probably damaging	Het
Nup160	A	T	2: 90,514,302 (GRCm39)	E83D	probably damaging	Het
Or12j3	A	T	7: 139,952,655 (GRCm39)	Y289*	probably null	Het
Or4z4	C	A	19: 12,076,530 (GRCm39)	V158L	probably benign	Het
Or5ac23	C	A	16: 59,149,504 (GRCm39)	V123L	probably benign	Het
Or8b56	A	G	9: 38,739,839 (GRCm39)	Y284C	probably damaging	Het
Plxnb2	A	G	15: 89,046,187 (GRCm39)		probably null	Het
Rundc3b	A	G	5: 8,562,318 (GRCm39)	V350A	probably benign	Het
Scn1a	C	T	2: 66,148,567 (GRCm39)	D993N	probably damaging	Het
Sec24c	G	T	14: 20,736,641 (GRCm39)	G226V	probably null	Het
Septin11	T	A	5: 93,304,783 (GRCm39)	I200N	probably damaging	Het
Shank3	G	T	15: 89,384,099 (GRCm39)	G14C	probably damaging	Het
Skic3	A	G	13: 76,270,862 (GRCm39)	K153R	possibly damaging	Het
Slc25a39	T	C	11: 102,297,452 (GRCm39)	D5G	possibly damaging	Het
Stoml3	A	T	3: 53,412,852 (GRCm39)	T169S	probably benign	Het
Taf1b	T	A	12: 24,559,125 (GRCm39)	I83K	possibly damaging	Het
Tarbp1	T	A	8: 127,154,957 (GRCm39)	Q1389L	probably damaging	Het
Thbs1	T	A	2: 117,943,923 (GRCm39)	D180E	probably benign	Het
Tmc5	T	A	7: 118,271,462 (GRCm39)	V925D	probably benign	Het
Tmem62	T	C	2: 120,809,708 (GRCm39)	V130A	probably damaging	Het
Tpp2	C	T	1: 44,029,708 (GRCm39)	P997L	probably damaging	Het
Trip12	A	T	1: 84,722,784 (GRCm39)	I127N	probably damaging	Het
Upp2	T	C	2: 58,661,562 (GRCm39)	F142L	possibly damaging	Het
Usf3	C	T	16: 44,039,995 (GRCm39)	Q1492*	probably null	Het
Vcp	T	C	4: 42,990,840 (GRCm39)	D205G	probably damaging	Het
Vmn1r180	G	A	7: 23,652,394 (GRCm39)	V186I	possibly damaging	Het
Washc2	T	C	6: 116,206,267 (GRCm39)	S496P	probably damaging	Het
Wee2	T	C	6: 40,441,135 (GRCm39)	I480T	probably benign	Het
Xylt2	T	A	11: 94,559,571 (GRCm39)	H357L	probably damaging	Het
Zbed4	T	C	15: 88,665,056 (GRCm39)	S375P	probably damaging	Het
Zfp442	A	T	2: 150,251,100 (GRCm39)	Y266*	probably null	Het
Zfp600	A	G	4: 146,133,497 (GRCm39)	T722A	probably benign	Het
Zfp976	T	A	7: 42,265,424 (GRCm39)	H55L	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
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
R4718:Acsm2	UTSW	7	119,172,826 (GRCm39)	missense	probably damaging	0.96
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'- CAGGTTAGTAACTGCCCACACAGG -3'
(R):5'- TCTCGACTGTTTTCAGACACCAGC -3'

Sequencing Primer
(F):5'- TCTCCCTTGTGAAGGCAATG -3'
(R):5'- GTTTTCAGACACCAGCAACTTG -3'

Posted On

2014-05-14