Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02551:Acsm2'

298111

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 #

IGL02551

Quality Score

Status

Chromosome

Chromosomal Location

119554340-119600690 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119573284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 117 (P117S)

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: P117S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: P117S

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 damaging
Transcript: ENSMUST00000098084
AA Change: P142S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: P142S

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: P117S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115048
Gene: ENSMUSG00000030945
AA Change: P117S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167935
AA Change: P117S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: P117S

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012P17Rik	G	A	1: 158,969,048		noncoding transcript	Het
Abca8a	T	C	11: 110,084,242	I109V	probably benign	Het
Adamts18	C	A	8: 113,699,072	C1186F	probably damaging	Het
Adamts5	A	T	16: 85,870,038	V522E	possibly damaging	Het
Adcy10	A	G	1: 165,543,233	T694A	probably damaging	Het
Adgra2	G	A	8: 27,119,222	V609I	probably benign	Het
Agbl3	A	G	6: 34,823,071	K638R	possibly damaging	Het
Alpk2	T	A	18: 65,372,751	N66I	probably damaging	Het
Ap3b1	T	A	13: 94,418,091	I245N	probably damaging	Het
Aqp9	A	G	9: 71,132,640	V120A	probably damaging	Het
Arhgef17	T	C	7: 100,930,346	E465G	probably damaging	Het
Btrc	G	T	19: 45,423,134	C31F	possibly damaging	Het
Calhm2	G	A	19: 47,133,100	S210L	probably damaging	Het
Cnksr3	C	A	10: 7,152,912	K153N	probably damaging	Het
Cnr1	T	C	4: 33,943,686	S25P	probably benign	Het
Dnajc6	T	A	4: 101,639,353	W838R	probably damaging	Het
Fam78a	T	A	2: 32,069,556	T181S	probably damaging	Het
Fat1	A	G	8: 45,051,398	T4600A	probably damaging	Het
Fbxo31	A	T	8: 121,566,344	Y101N	probably damaging	Het
Glmp	A	G	3: 88,325,082	M1V	probably null	Het
Gsdmc	T	A	15: 63,801,933	T168S	probably benign	Het
Has1	C	T	17: 17,848,298	V265I	probably damaging	Het
Hmcn2	A	G	2: 31,454,811	D4670G	possibly damaging	Het
Kcnj4	C	T	15: 79,484,902	M292I	probably benign	Het
Kmo	A	T	1: 175,637,919	S80C	probably damaging	Het
Lrrc8d	C	T	5: 105,813,548	T608I	possibly damaging	Het
Mical2	A	T	7: 112,323,990	N635I	probably benign	Het
Nags	T	C	11: 102,147,941	S403P	probably damaging	Het
Nalcn	T	A	14: 123,323,338	I776F	probably benign	Het
Ncan	A	T	8: 70,102,462	N1018K	probably damaging	Het
Notch3	T	A	17: 32,154,731		probably benign	Het
Nup93	C	T	8: 94,227,833	Q53*	probably null	Het
Pdk2	T	A	11: 95,028,586	M288L	probably benign	Het
Pkd1	A	G	17: 24,573,815	Y1492C	probably damaging	Het
Pla2g12b	T	A	10: 59,403,870	W34R	probably damaging	Het
Pla2g6	T	A	15: 79,299,094	D511V	possibly damaging	Het
Plin2	C	A	4: 86,658,692	M265I	probably benign	Het
Ppp6c	A	T	2: 39,206,657	F78I	probably damaging	Het
Prop1	A	T	11: 50,950,946	M211K	possibly damaging	Het
Prr14l	T	A	5: 32,831,484	E222D	probably damaging	Het
Rtkn	A	T	6: 83,151,924	I454F	probably damaging	Het
Serinc2	T	C	4: 130,260,774	I226V	probably benign	Het
Sh3bp1	T	A	15: 78,904,338	H229Q	probably benign	Het
Slc13a3	G	T	2: 165,424,573	F348L	probably damaging	Het
Slc6a15	T	A	10: 103,404,275		probably benign	Het
Spg7	G	A	8: 123,076,978	G249E	probably damaging	Het
Tbc1d2	T	C	4: 46,649,916	D40G	probably benign	Het
Tmcc2	A	G	1: 132,357,579	L683P	probably damaging	Het
Triobp	T	C	15: 78,973,489	S1097P	probably benign	Het
Tspan9	T	C	6: 127,965,763	D167G	probably null	Het
Ttll6	T	C	11: 96,154,700	I581T	probably benign	Het
Usp29	A	G	7: 6,963,353		probably null	Het
Vgll4	A	G	6: 114,862,293	W246R	probably damaging	Het
Vmn2r26	T	C	6: 124,026,141	V170A	probably benign	Het
Vmn2r62	T	C	7: 42,788,506	T185A	probably benign	Het
Vwce	A	G	19: 10,645,036	H234R	possibly damaging	Het
Zfp292	T	C	4: 34,806,462	E2194G	possibly damaging	Het

Other mutations in Acsm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Acsm2	APN	7	119573168	missense	probably damaging	1.00
IGL00930:Acsm2	APN	7	119592310	missense	possibly damaging	0.91
IGL01472:Acsm2	APN	7	119554536	critical splice donor site	probably null
IGL01927:Acsm2	APN	7	119578212	missense	possibly damaging	0.75
IGL02550:Acsm2	APN	7	119573284	missense	probably damaging	1.00
IGL02818:Acsm2	APN	7	119573581	splice site	probably null
IGL03064:Acsm2	APN	7	119575641	missense	probably damaging	0.98
PIT4469001:Acsm2	UTSW	7	119578185	missense	possibly damaging	0.51
R0395:Acsm2	UTSW	7	119575746	missense	probably damaging	1.00
R0416:Acsm2	UTSW	7	119563556	missense	probably benign	0.00
R0783:Acsm2	UTSW	7	119573117	missense	probably damaging	1.00
R1252:Acsm2	UTSW	7	119573245	missense	probably benign	0.15
R1432:Acsm2	UTSW	7	119573575	missense	possibly damaging	0.83
R1494:Acsm2	UTSW	7	119575632	missense	probably damaging	1.00
R1495:Acsm2	UTSW	7	119578126	missense	probably damaging	1.00
R1642:Acsm2	UTSW	7	119563637	missense	probably damaging	1.00
R1702:Acsm2	UTSW	7	119573564	missense	possibly damaging	0.88
R2082:Acsm2	UTSW	7	119580634	missense	probably benign	0.00
R2420:Acsm2	UTSW	7	119563634	missense	probably damaging	1.00
R3612:Acsm2	UTSW	7	119591330	missense	probably damaging	0.97
R4396:Acsm2	UTSW	7	119595920	missense	probably damaging	1.00
R4433:Acsm2	UTSW	7	119554509	missense	unknown
R4568:Acsm2	UTSW	7	119563517	missense	probably benign	0.00
R4718:Acsm2	UTSW	7	119573603	missense	probably damaging	0.96
R5025:Acsm2	UTSW	7	119554496	missense	unknown
R5497:Acsm2	UTSW	7	119573320	missense	possibly damaging	0.69
R5509:Acsm2	UTSW	7	119573617	missense	probably damaging	1.00
R5682:Acsm2	UTSW	7	119563551	missense	probably benign	0.12
R5941:Acsm2	UTSW	7	119591098	missense	probably damaging	1.00
R5956:Acsm2	UTSW	7	119554481	missense	unknown
R6129:Acsm2	UTSW	7	119591247	splice site	probably null
R6212:Acsm2	UTSW	7	119573282	missense	probably damaging	1.00
R7026:Acsm2	UTSW	7	119592227	missense	probably damaging	1.00
R7227:Acsm2	UTSW	7	119591333	missense	probably benign
R7903:Acsm2	UTSW	7	119595992	missense	probably benign	0.22
R7954:Acsm2	UTSW	7	119580729	missense	probably damaging	1.00
R8002:Acsm2	UTSW	7	119573257	missense	possibly damaging	0.81
R8066:Acsm2	UTSW	7	119591325	missense	probably damaging	0.99
R9185:Acsm2	UTSW	7	119578198	missense	possibly damaging	0.96
R9200:Acsm2	UTSW	7	119580616	nonsense	probably null
R9324:Acsm2	UTSW	7	119580633	missense	probably benign
R9507:Acsm2	UTSW	7	119580716	missense	probably benign
R9623:Acsm2	UTSW	7	119582752	missense	probably benign	0.00
Z1177:Acsm2	UTSW	7	119578093	missense	probably damaging	1.00

Posted On

2015-04-16