Mutagenetix > Incidental Mutation

Incidental Mutation 'R5682:Acsm2'

443117

Institutional Source

Beutler Lab

Gene Symbol

Acsm2

Ensembl Gene

ENSMUSG00000030945

Gene Name

acyl-CoA synthetase medium-chain family member 2

Synonyms

MMRRC Submission

043318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5682 (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 119162774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 41 (N41I)

Ref Sequence

ENSEMBL: ENSMUSP00000095690 (fasta)

Gene Model

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

AlphaFold

Q8K0L3

Predicted Effect

probably benign
Transcript: ENSMUST00000084647
AA Change: N16I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: N16I

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: N41I

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: N41I

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
AA Change: N16I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000115048
Gene: ENSMUSG00000030945
AA Change: N16I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150228
AA Change: N28I

Predicted Effect

probably benign
Transcript: ENSMUST00000167935
AA Change: N16I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: N16I

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: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,283,723 (GRCm39)	S7T	probably benign	Het
Acot4	G	A	12: 84,085,576 (GRCm39)	V98M	probably damaging	Het
Adamtsl3	A	T	7: 82,255,758 (GRCm39)	N1590I	probably damaging	Het
Ank3	G	A	10: 69,729,347 (GRCm39)	G714R	probably damaging	Het
Armh4	T	C	14: 49,989,043 (GRCm39)	D642G	probably damaging	Het
Ash1l	G	A	3: 88,914,914 (GRCm39)	R1848Q	probably damaging	Het
Atp1a4	A	T	1: 172,081,730 (GRCm39)	Y141N	probably damaging	Het
Atxn3	A	T	12: 101,924,406 (GRCm39)	I1N	probably damaging	Het
Avil	A	C	10: 126,849,973 (GRCm39)	Q608P	probably damaging	Het
Axin1	T	C	17: 26,406,775 (GRCm39)	V456A	probably benign	Het
Cacna1g	A	G	11: 94,349,940 (GRCm39)	L635P	probably damaging	Het
Card11	G	A	5: 140,888,666 (GRCm39)	Q231*	probably null	Het
Ccdc162	G	A	10: 41,432,799 (GRCm39)	R500*	probably null	Het
Cdh24	T	C	14: 54,874,805 (GRCm39)	D400G	probably damaging	Het
Cep112	T	C	11: 108,361,138 (GRCm39)	L164P	probably damaging	Het
Corin	A	G	5: 72,579,497 (GRCm39)	S224P	possibly damaging	Het
Csgalnact2	T	C	6: 118,097,953 (GRCm39)	Y371C	probably damaging	Het
Cspg4	A	T	9: 56,793,480 (GRCm39)	E405V	probably benign	Het
Ctnna3	T	A	10: 64,709,085 (GRCm39)	M708K	probably damaging	Het
Cyp7a1	T	A	4: 6,268,429 (GRCm39)	Y432F	probably benign	Het
Dcaf11	T	A	14: 55,800,883 (GRCm39)	V113E	probably damaging	Het
Dhx29	T	C	13: 113,067,383 (GRCm39)	I88T	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Elmo2	A	G	2: 165,139,330 (GRCm39)	F406L	probably damaging	Het
Eps15l1	G	A	8: 73,125,592 (GRCm39)	Q648*	probably null	Het
Fam171a1	G	A	2: 3,227,126 (GRCm39)	R753Q	probably damaging	Het
Figla	T	A	6: 85,995,604 (GRCm39)	V86E	probably damaging	Het
Galnt7	C	A	8: 58,036,967 (GRCm39)	E141*	probably null	Het
Garnl3	A	G	2: 32,944,185 (GRCm39)	Y125H	probably damaging	Het
Gnb5	A	G	9: 75,234,523 (GRCm39)	D74G	probably damaging	Het
Grk1	A	T	8: 13,464,351 (GRCm39)	I408F	possibly damaging	Het
Has1	A	T	17: 18,064,425 (GRCm39)	W405R	possibly damaging	Het
Hdac5	A	G	11: 102,104,749 (GRCm39)		probably benign	Het
Helq	T	A	5: 100,933,170 (GRCm39)	M555L	probably benign	Het
Hipk2	T	C	6: 38,714,408 (GRCm39)	N556S	possibly damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Ing3	T	C	6: 21,968,949 (GRCm39)	S144P	probably damaging	Het
Itgb1	G	A	8: 129,453,549 (GRCm39)		probably null	Het
Kcnh4	A	T	11: 100,640,628 (GRCm39)	M466K	possibly damaging	Het
Krit1	T	A	5: 3,880,737 (GRCm39)	N565K	probably damaging	Het
Limk1	A	C	5: 134,694,059 (GRCm39)		probably null	Het
Lrif1	T	C	3: 106,639,884 (GRCm39)	I323T	possibly damaging	Het
Macf1	T	C	4: 123,328,552 (GRCm39)	E1811G	probably damaging	Het
Mctp2	A	C	7: 71,895,207 (GRCm39)		probably null	Het
Mmp21	A	G	7: 133,276,358 (GRCm39)	I495T	probably benign	Het
Mpz	A	T	1: 170,986,463 (GRCm39)	T126S	possibly damaging	Het
Napsa	A	G	7: 44,234,768 (GRCm39)	Y301C	possibly damaging	Het
Ncbp1	T	A	4: 46,170,474 (GRCm39)		probably benign	Het
Nup160	A	G	2: 90,510,155 (GRCm39)	E47G	probably benign	Het
Or8b56	A	G	9: 38,739,424 (GRCm39)	I146V	probably benign	Het
Pcdha11	A	G	18: 37,144,502 (GRCm39)	K198E	probably damaging	Het
Pcdha3	A	G	18: 37,081,040 (GRCm39)	D594G	probably damaging	Het
Pdcd5	G	A	7: 35,346,613 (GRCm39)		probably benign	Het
Pdhx	A	T	2: 102,865,685 (GRCm39)	S166T	probably benign	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Prkch	C	T	12: 73,744,724 (GRCm39)	H246Y	probably damaging	Het
Ptk2	A	T	15: 73,134,413 (GRCm39)	L562*	probably null	Het
Rab3ip	C	T	10: 116,743,008 (GRCm39)	W439*	probably null	Het
Rasef	T	A	4: 73,659,208 (GRCm39)	R435*	probably null	Het
Rnf103	C	T	6: 71,485,708 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,991,765 (GRCm39)	F388L	probably benign	Het
Sds	A	C	5: 120,621,784 (GRCm39)	S309R	possibly damaging	Het
Sgip1	T	A	4: 102,824,847 (GRCm39)	D736E	possibly damaging	Het
Sgms2	A	G	3: 131,118,611 (GRCm39)	Y291H	probably damaging	Het
Sgsm3	A	G	15: 80,895,661 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,925,930 (GRCm39)	I259F	probably damaging	Het
Sik2	G	A	9: 50,828,382 (GRCm39)	P220L	probably damaging	Het
Slc29a3	A	G	10: 60,551,991 (GRCm39)	V351A	probably benign	Het
Slc36a3	A	G	11: 55,016,489 (GRCm39)	S369P	probably benign	Het
Srgap1	A	T	10: 121,640,919 (GRCm39)	M649K	probably damaging	Het
Thnsl1	A	G	2: 21,216,879 (GRCm39)	E211G	possibly damaging	Het
Tmprss9	A	G	10: 80,733,207 (GRCm39)		probably null	Het
Tpgs1	G	A	10: 79,511,421 (GRCm39)	V188M	probably damaging	Het
Vmn1r201	G	T	13: 22,659,355 (GRCm39)	V190F	probably damaging	Het
Vmn1r64	A	T	7: 5,886,622 (GRCm39)	L307Q	possibly damaging	Het
Wbp11	T	C	6: 136,791,252 (GRCm39)		probably benign	Het
Wdr35	A	G	12: 9,031,125 (GRCm39)	Y134C	probably damaging	Het
Zan	G	T	5: 137,412,521 (GRCm39)	C3263*	probably null	Het
Zc3h12c	G	T	9: 52,037,876 (GRCm39)	D301E	probably damaging	Het
Zfp365	A	C	10: 67,745,637 (GRCm39)	L47R	probably damaging	Het
Zmym6	C	T	4: 126,998,200 (GRCm39)	P412L	probably 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
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
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'- CCAGGCACTCAGTTTCAATTC -3'
(R):5'- AGATGACCGTCCTGTTCACAG -3'

Sequencing Primer
(F):5'- AGGCACTCAGTTTCAATTCAACTC -3'
(R):5'- AAGCATCCCATAATGTTCTATCTCG -3'

Posted On

2016-11-09