Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02550:Acsm2'

298039

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 #

IGL02550

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,845,166 (GRCm38)		probably null	Het
Acer3	G	A	7: 98,223,978 (GRCm38)	T171I	probably benign	Het
Anxa2	A	G	9: 69,467,306 (GRCm38)	S22G	probably benign	Het
Arrb2	T	C	11: 70,436,870 (GRCm38)	I120T	probably damaging	Het
Atp11a	G	T	8: 12,816,997 (GRCm38)	K141N	possibly damaging	Het
Casd1	T	C	6: 4,642,009 (GRCm38)	V762A	probably benign	Het
Ccdc61	A	T	7: 18,893,302 (GRCm38)	S48T	probably benign	Het
Cntn2	T	C	1: 132,529,063 (GRCm38)	M82V	probably null	Het
Cobll1	A	G	2: 65,107,863 (GRCm38)	S359P	probably damaging	Het
Ctnnbl1	C	A	2: 157,884,135 (GRCm38)	D465E	probably benign	Het
Def6	A	T	17: 28,228,261 (GRCm38)	E622V	probably benign	Het
Dmgdh	T	C	13: 93,717,575 (GRCm38)	Y678H	probably damaging	Het
Dock9	A	T	14: 121,698,312 (GRCm38)	M1K	probably null	Het
Esyt1	T	C	10: 128,522,093 (GRCm38)	K216E	probably damaging	Het
Fhod3	A	G	18: 25,022,960 (GRCm38)	D545G	probably benign	Het
Galnt12	A	T	4: 47,104,126 (GRCm38)	D128V	possibly damaging	Het
Gm1110	C	T	9: 26,881,834 (GRCm38)	V549I	probably benign	Het
Gm7361	A	G	5: 26,261,122 (GRCm38)	I161V	possibly damaging	Het
Gsn	T	C	2: 35,282,607 (GRCm38)		probably benign	Het
Gvin3	A	T	7: 106,601,639 (GRCm38)		noncoding transcript	Het
Il16	T	A	7: 83,674,496 (GRCm38)	Q282L	possibly damaging	Het
Il3ra	A	G	14: 14,348,055 (GRCm38)	D67G	probably benign	Het
Insrr	T	C	3: 87,804,498 (GRCm38)	L515P	probably damaging	Het
Jhy	A	G	9: 40,917,170 (GRCm38)	F480S	probably benign	Het
Klc4	C	A	17: 46,636,910 (GRCm38)		probably null	Het
Klhl12	G	T	1: 134,467,705 (GRCm38)	C135F	possibly damaging	Het
Ly6m	T	G	15: 74,880,755 (GRCm38)	H24P	probably damaging	Het
Mboat7	G	T	7: 3,683,906 (GRCm38)		probably null	Het
Myo1f	G	A	17: 33,588,142 (GRCm38)	D522N	probably damaging	Het
Myo1f	A	G	17: 33,580,150 (GRCm38)		probably benign	Het
Nbea	C	A	3: 56,019,414 (GRCm38)	M789I	probably damaging	Het
Ncapd2	T	C	6: 125,177,447 (GRCm38)	D602G	probably benign	Het
Ncaph2	A	T	15: 89,369,861 (GRCm38)	K344*	probably null	Het
Nek2	A	G	1: 191,822,259 (GRCm38)	Y70C	probably damaging	Het
Or2t1	T	C	14: 14,328,423 (GRCm38)	L104P	possibly damaging	Het
Or4k35	T	A	2: 111,270,004 (GRCm38)	D121V	probably damaging	Het
Or4k37	T	C	2: 111,328,500 (GRCm38)	L27P	probably damaging	Het
Or5ak22	G	A	2: 85,399,822 (GRCm38)	A237V	probably damaging	Het
Or7e166	C	A	9: 19,713,047 (GRCm38)	F73L	possibly damaging	Het
Or8g35	T	A	9: 39,470,546 (GRCm38)	Y60F	probably benign	Het
Plcb3	T	A	19: 6,960,176 (GRCm38)	K625*	probably null	Het
Plrg1	T	C	3: 83,061,123 (GRCm38)		probably null	Het
Ptpn12	A	G	5: 20,998,139 (GRCm38)	V547A	probably benign	Het
Ralgapb	A	G	2: 158,448,411 (GRCm38)	D748G	probably damaging	Het
Rcbtb2	A	G	14: 73,162,019 (GRCm38)	E41G	probably damaging	Het
Rela	G	T	19: 5,641,506 (GRCm38)	R236L	possibly damaging	Het
Rps6kc1	A	G	1: 190,871,862 (GRCm38)	S188P	probably damaging	Het
Sipa1l1	A	T	12: 82,440,949 (GRCm38)	K1666*	probably null	Het
Slco1a1	C	T	6: 141,943,465 (GRCm38)	M40I	probably benign	Het
Smarca4	C	A	9: 21,686,122 (GRCm38)	P1391Q	probably benign	Het
Stra6	A	G	9: 58,150,083 (GRCm38)	N392S	possibly damaging	Het
Syt4	A	G	18: 31,444,193 (GRCm38)	I36T	probably damaging	Het
Tgfbr2	A	T	9: 116,110,129 (GRCm38)	M235K	probably benign	Het
Tmem87a	T	A	2: 120,374,485 (GRCm38)		probably null	Het
Tmf1	T	C	6: 97,158,561 (GRCm38)	D918G	probably benign	Het
Tnfaip2	A	G	12: 111,446,101 (GRCm38)	Y312C	probably damaging	Het
Usp47	C	T	7: 112,104,354 (GRCm38)	R1178C	probably damaging	Het
Vmn2r95	T	A	17: 18,451,732 (GRCm38)	I577N	probably damaging	Het
Vps13b	T	C	15: 35,572,096 (GRCm38)	V953A	probably benign	Het
Wasl	A	G	6: 24,633,884 (GRCm38)	F127S	probably damaging	Het
Wdr1	C	T	5: 38,540,863 (GRCm38)	V192I	probably damaging	Het
Wnt9a	C	T	11: 59,330,918 (GRCm38)	T214I	probably damaging	Het
Xpo5	A	G	17: 46,229,329 (GRCm38)	D693G	probably benign	Het
Zan	A	G	5: 137,387,039 (GRCm38)	L5044P	unknown	Het
Zhx3	T	C	2: 160,781,296 (GRCm38)	N317S	probably damaging	Het

Other mutations in Acsm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Acsm2	APN	7	119,573,168 (GRCm38)	missense	probably damaging	1.00
IGL00930:Acsm2	APN	7	119,592,310 (GRCm38)	missense	possibly damaging	0.91
IGL01472:Acsm2	APN	7	119,554,536 (GRCm38)	critical splice donor site	probably null
IGL01927:Acsm2	APN	7	119,578,212 (GRCm38)	missense	possibly damaging	0.75
IGL02551:Acsm2	APN	7	119,573,284 (GRCm38)	missense	probably damaging	1.00
IGL02818:Acsm2	APN	7	119,573,581 (GRCm38)	splice site	probably null
IGL03064:Acsm2	APN	7	119,575,641 (GRCm38)	missense	probably damaging	0.98
PIT4469001:Acsm2	UTSW	7	119,578,185 (GRCm38)	missense	possibly damaging	0.51
R0395:Acsm2	UTSW	7	119,575,746 (GRCm38)	missense	probably damaging	1.00
R0416:Acsm2	UTSW	7	119,563,556 (GRCm38)	missense	probably benign	0.00
R0783:Acsm2	UTSW	7	119,573,117 (GRCm38)	missense	probably damaging	1.00
R1252:Acsm2	UTSW	7	119,573,245 (GRCm38)	missense	probably benign	0.15
R1432:Acsm2	UTSW	7	119,573,575 (GRCm38)	missense	possibly damaging	0.83
R1494:Acsm2	UTSW	7	119,575,632 (GRCm38)	missense	probably damaging	1.00
R1495:Acsm2	UTSW	7	119,578,126 (GRCm38)	missense	probably damaging	1.00
R1642:Acsm2	UTSW	7	119,563,637 (GRCm38)	missense	probably damaging	1.00
R1702:Acsm2	UTSW	7	119,573,564 (GRCm38)	missense	possibly damaging	0.88
R2082:Acsm2	UTSW	7	119,580,634 (GRCm38)	missense	probably benign	0.00
R2420:Acsm2	UTSW	7	119,563,634 (GRCm38)	missense	probably damaging	1.00
R3612:Acsm2	UTSW	7	119,591,330 (GRCm38)	missense	probably damaging	0.97
R4396:Acsm2	UTSW	7	119,595,920 (GRCm38)	missense	probably damaging	1.00
R4433:Acsm2	UTSW	7	119,554,509 (GRCm38)	missense	unknown
R4568:Acsm2	UTSW	7	119,563,517 (GRCm38)	missense	probably benign	0.00
R4718:Acsm2	UTSW	7	119,573,603 (GRCm38)	missense	probably damaging	0.96
R5025:Acsm2	UTSW	7	119,554,496 (GRCm38)	missense	unknown
R5497:Acsm2	UTSW	7	119,573,320 (GRCm38)	missense	possibly damaging	0.69
R5509:Acsm2	UTSW	7	119,573,617 (GRCm38)	missense	probably damaging	1.00
R5682:Acsm2	UTSW	7	119,563,551 (GRCm38)	missense	probably benign	0.12
R5941:Acsm2	UTSW	7	119,591,098 (GRCm38)	missense	probably damaging	1.00
R5956:Acsm2	UTSW	7	119,554,481 (GRCm38)	missense	unknown
R6129:Acsm2	UTSW	7	119,591,247 (GRCm38)	splice site	probably null
R6212:Acsm2	UTSW	7	119,573,282 (GRCm38)	missense	probably damaging	1.00
R7026:Acsm2	UTSW	7	119,592,227 (GRCm38)	missense	probably damaging	1.00
R7227:Acsm2	UTSW	7	119,591,333 (GRCm38)	missense	probably benign
R7903:Acsm2	UTSW	7	119,595,992 (GRCm38)	missense	probably benign	0.22
R7954:Acsm2	UTSW	7	119,580,729 (GRCm38)	missense	probably damaging	1.00
R8002:Acsm2	UTSW	7	119,573,257 (GRCm38)	missense	possibly damaging	0.81
R8066:Acsm2	UTSW	7	119,591,325 (GRCm38)	missense	probably damaging	0.99
R9185:Acsm2	UTSW	7	119,578,198 (GRCm38)	missense	possibly damaging	0.96
R9200:Acsm2	UTSW	7	119,580,616 (GRCm38)	nonsense	probably null
R9324:Acsm2	UTSW	7	119,580,633 (GRCm38)	missense	probably benign
R9507:Acsm2	UTSW	7	119,580,716 (GRCm38)	missense	probably benign
R9623:Acsm2	UTSW	7	119,582,752 (GRCm38)	missense	probably benign	0.00
Z1177:Acsm2	UTSW	7	119,578,093 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16