Mutagenetix > Incidental Mutation

Incidental Mutation 'R7275:Acsm5'

565516

Institutional Source

Beutler Lab

Gene Symbol

Acsm5

Ensembl Gene

ENSMUSG00000030972

Gene Name

acyl-CoA synthetase medium-chain family member 5

Synonyms

C730027J19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R7275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119519463-119545551 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119537288 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 361 (T361A)

Ref Sequence

ENSEMBL: ENSMUSP00000063416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066465] [ENSMUST00000207307] [ENSMUST00000207381] [ENSMUST00000207387] [ENSMUST00000207440] [ENSMUST00000207796] [ENSMUST00000207813]

AlphaFold

Q8BGA8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066465
AA Change: T361A

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
AA Change: T361A

Domain	Start	End	E-Value	Type
low complexity region	26	32	N/A	INTRINSIC
Pfam:AMP-binding	65	477	2.9e-78	PFAM
Pfam:AMP-binding_C	485	565	3.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000207307

Predicted Effect

probably benign
Transcript: ENSMUST00000207381

Predicted Effect

probably benign
Transcript: ENSMUST00000207387

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207440
AA Change: T361A

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207796
AA Change: T361A

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000207813

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	A	12: 72,910,021	T132S	possibly damaging	Het
4933412E24Rik	A	G	15: 60,015,889	V234A	probably benign	Het
Agxt2	G	A	15: 10,358,667	R24H	probably benign	Het
Asb16	G	T	11: 102,269,109	W96L	probably damaging	Het
BC037034	T	C	5: 138,263,577	S86G	probably benign	Het
Bche	T	A	3: 73,700,636	T486S	probably benign	Het
Btbd11	T	A	10: 85,654,482	L1004Q	probably damaging	Het
Cast	T	C	13: 74,727,334	T382A	probably benign	Het
Cdcp1	T	A	9: 123,185,054	K218N	possibly damaging	Het
Ceacam18	G	A	7: 43,641,884	G250D	probably damaging	Het
Ctnnd2	T	C	15: 30,905,709	I834T	possibly damaging	Het
Cyp11b2	C	A	15: 74,853,991	G136W	probably damaging	Het
Dis3	A	G	14: 99,087,489	V502A	probably damaging	Het
Dnaic2	T	A	11: 114,757,228	M610K	unknown	Het
Drosha	G	A	15: 12,846,083	V435I	possibly damaging	Het
Dsc2	T	A	18: 20,051,179	R51*	probably null	Het
Ergic2	A	T	6: 148,195,259	C170S	probably damaging	Het
Exoc7	A	T	11: 116,304,862		probably null	Het
Fbxw25	G	T	9: 109,654,592	A184E		Het
Gm4846	T	A	1: 166,487,079	T332S	probably benign	Het
Gm5152	T	C	5: 10,245,225	N71D		Het
Greb1l	T	A	18: 10,544,561	M1385K	probably benign	Het
Grik1	T	C	16: 87,912,820	N871S	probably benign	Het
Il11ra1	T	C	4: 41,765,109	L145P	probably damaging	Het
Impad1	C	A	4: 4,792,962	G48W	probably damaging	Het
Inpp5e	A	G	2: 26,408,092	S166P	probably benign	Het
Kdm4b	T	A	17: 56,396,333	L676H	probably damaging	Het
Lrp2	T	A	2: 69,459,531	K3655*	probably null	Het
Lrrc74a	A	G	12: 86,740,979	N128S	probably damaging	Het
Map3k14	T	C	11: 103,227,022	E648G	probably damaging	Het
Mbtps1	A	T	8: 119,542,750	D200E	probably benign	Het
Mttp	T	C	3: 138,123,785	D114G	probably benign	Het
Mup13	G	A	4: 61,226,753	T101M	probably benign	Het
Narfl	T	A	17: 25,775,134	V52E	possibly damaging	Het
Neb	T	A	2: 52,206,944	T4953S	probably benign	Het
Nfasc	A	C	1: 132,634,263	L147R	probably damaging	Het
Obox6	T	C	7: 15,833,880	E214G	probably benign	Het
Olfr1054	C	A	2: 86,332,792	C188F	possibly damaging	Het
Olfr340	A	T	2: 36,452,839	M85L	probably benign	Het
Olfr936	T	A	9: 39,047,519		probably benign	Het
Opn3	T	C	1: 175,665,473	N175S	probably damaging	Het
Osbpl3	G	T	6: 50,346,430	D224E	probably benign	Het
Osr2	A	G	15: 35,300,886	D196G	probably damaging	Het
Pde8b	T	A	13: 95,042,934	N405Y	probably damaging	Het
Pirb	A	G	7: 3,716,178	S571P	probably benign	Het
Psmc3	T	A	2: 91,055,930	I163N	probably damaging	Het
Rapgef4	A	G	2: 72,208,101	D532G	probably damaging	Het
Retreg1	A	G	15: 25,971,598	D208G	probably benign	Het
Rgsl1	T	G	1: 153,804,130		probably null	Het
Ripk4	T	C	16: 97,743,957	T497A	probably benign	Het
Slc30a2	T	A	4: 134,349,270		probably null	Het
Slc6a19	T	C	13: 73,686,078	D335G	probably benign	Het
Slco4c1	G	A	1: 96,871,772	T113M	probably benign	Het
Stxbp6	A	G	12: 44,902,003	F108L	probably benign	Het
Sulf1	T	A	1: 12,850,965		probably null	Het
Syt16	C	T	12: 74,266,709	R470C	probably damaging	Het
Tbc1d19	T	A	5: 53,872,276	D326E	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,018	T24A	probably benign	Het
Trpm3	T	A	19: 22,978,684	M1170K	possibly damaging	Het
Tubgcp6	G	A	15: 89,102,943	Q1276*	probably null	Het
Tyrp1	A	G	4: 80,837,584	K197E	possibly damaging	Het
Ube2cbp	T	C	9: 86,440,626	D165G	probably damaging	Het
Zfp212	A	G	6: 47,920,744	T7A	probably benign	Het
Zhx1	T	C	15: 58,054,362	T163A	probably benign	Het
Zp2	A	T	7: 120,135,353		probably null	Het

Other mutations in Acsm5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Acsm5	APN	7	119542438	critical splice donor site	probably null
IGL01662:Acsm5	APN	7	119538288	missense	probably damaging	1.00
IGL02228:Acsm5	APN	7	119531866	missense	probably damaging	1.00
IGL02380:Acsm5	APN	7	119537286	missense	probably benign	0.05
IGL02709:Acsm5	APN	7	119534818	nonsense	probably null
P4717OSA:Acsm5	UTSW	7	119531972	missense	probably benign	0.12
R0506:Acsm5	UTSW	7	119538096	nonsense	probably null
R0518:Acsm5	UTSW	7	119535800	missense	possibly damaging	0.95
R0866:Acsm5	UTSW	7	119540900	missense	probably damaging	0.99
R1171:Acsm5	UTSW	7	119540852	missense	probably damaging	0.99
R2362:Acsm5	UTSW	7	119528426	start gained	probably benign
R2511:Acsm5	UTSW	7	119530454	missense	possibly damaging	0.80
R4670:Acsm5	UTSW	7	119531760	splice site	probably null
R4908:Acsm5	UTSW	7	119538091	missense	probably damaging	1.00
R4913:Acsm5	UTSW	7	119534343	missense	probably damaging	0.98
R5038:Acsm5	UTSW	7	119534811	missense	probably damaging	1.00
R5112:Acsm5	UTSW	7	119537279	missense	possibly damaging	0.95
R6337:Acsm5	UTSW	7	119534235	missense	probably benign	0.00
R6481:Acsm5	UTSW	7	119534881	missense	probably benign	0.02
R7268:Acsm5	UTSW	7	119537288	missense	probably benign	0.38
R7509:Acsm5	UTSW	7	119534388	missense	probably benign
R7794:Acsm5	UTSW	7	119538129	unclassified	probably benign
R8021:Acsm5	UTSW	7	119542393	missense	possibly damaging	0.72
R8178:Acsm5	UTSW	7	119542395	missense	probably damaging	1.00
R8797:Acsm5	UTSW	7	119538151	missense	probably damaging	1.00
Z1088:Acsm5	UTSW	7	119537211	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCACATGGAGTTGACTGTGG -3'
(R):5'- GCATTCCCTACCAGTTTCAGTG -3'

Sequencing Primer
(F):5'- CTAGTGACTTAAGAGCTCTGGACC -3'
(R):5'- ACCAGTTTCAGTGCCCTAGAG -3'

Posted On

2019-06-26