Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00782:Acsm2'

8558

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acsm2

Ensembl Gene

ENSMUSG00000030945

Gene Name

acyl-CoA synthetase medium-chain family member 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00782

Quality Score

Status

Chromosome

Chromosomal Location

119153563-119199913 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119172391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 78 (E78V)

Ref Sequence

ENSEMBL: ENSMUSP00000115048 (fasta)

Gene Model

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

AlphaFold

Q8K0L3

Predicted Effect

probably damaging
Transcript: ENSMUST00000084647
AA Change: E78V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: E78V

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: E103V

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: E103V

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 damaging
Transcript: ENSMUST00000130583
AA Change: E78V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115048
Gene: ENSMUSG00000030945
AA Change: E78V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167935
AA Change: E78V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: E78V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn7	A	G	14: 14,096,218 (GRCm38)	I508V	possibly damaging	Het
Cecr2	A	G	6: 120,738,582 (GRCm39)	N1075S	probably benign	Het
Clcn3	A	G	8: 61,375,826 (GRCm39)	I689T	probably damaging	Het
Cntnap3	T	C	13: 64,893,619 (GRCm39)		probably benign	Het
Defb11	T	C	8: 22,395,510 (GRCm39)	I56V	probably benign	Het
Ercc5	A	G	1: 44,203,095 (GRCm39)	N244S	probably damaging	Het
Gabrg3	A	G	7: 57,031,415 (GRCm39)	S42P	probably damaging	Het
Hcrtr2	A	T	9: 76,137,779 (GRCm39)		probably benign	Het
Jcad	T	C	18: 4,675,073 (GRCm39)	L945S	probably benign	Het
Lrp2	T	C	2: 69,331,989 (GRCm39)	M1589V	probably benign	Het
Prkg1	C	T	19: 30,556,153 (GRCm39)		probably benign	Het
Samd1	T	C	8: 84,726,246 (GRCm39)	F464S	probably damaging	Het
Slc35b3	A	G	13: 39,127,116 (GRCm39)	S213P	possibly damaging	Het
Taar1	A	G	10: 23,796,344 (GRCm39)	N14S	probably benign	Het
Tinf2	A	G	14: 55,917,921 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,528,555 (GRCm39)	N2140S	probably benign	Het
Zfp780b	T	C	7: 27,664,186 (GRCm39)	D123G	probably benign	Het

Other mutations in Acsm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06