Mutagenetix > Incidental Mutations

Incidental Mutation 'R6481:Acsm5'

517105

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: 0.298) question?

Stock #

R6481 (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 119534881 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 295 (E295G)

Ref Sequence

ENSEMBL: ENSMUSP00000146520 (fasta)

Gene Model

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

AlphaFold

Q8BGA8

Predicted Effect

probably benign
Transcript: ENSMUST00000066465
AA Change: E295G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
AA Change: E295G

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
AA Change: E295G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000207440
AA Change: E295G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000207796
AA Change: E295G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207813

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (82/82)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428L18Rik	T	C	1: 31,222,507		probably benign	Het
5430419D17Rik	A	T	7: 131,256,801	D1066V	probably benign	Het
6430573F11Rik	T	C	8: 36,498,483		probably null	Het
Abca9	G	A	11: 110,165,962	Q11*	probably null	Het
Abcc9	A	T	6: 142,604,895	M1273K	probably damaging	Het
Abi2	A	G	1: 60,438,939		probably null	Het
Anapc5	T	C	5: 122,800,544	D389G	probably benign	Het
Ano3	A	T	2: 110,795,027	D159E	probably benign	Het
Arhgap26	T	A	18: 39,150,057	M349K	probably damaging	Het
Arhgef39	A	G	4: 43,498,580		probably null	Het
Astn1	T	C	1: 158,612,462	S867P	probably benign	Het
Atad3a	A	T	4: 155,753,641		probably null	Het
Cadm1	A	T	9: 47,788,109	D91V	probably damaging	Het
Cc2d2b	T	C	19: 40,802,395	I933T	possibly damaging	Het
Celsr3	C	G	9: 108,837,084	N1937K	possibly damaging	Het
Cic	A	C	7: 25,288,281	T558P	possibly damaging	Het
Cntln	A	G	4: 85,067,510	M933V	probably benign	Het
Coch	T	C	12: 51,598,173	F170S	probably damaging	Het
Col1a2	A	G	6: 4,538,680	Y1200C	unknown	Het
Col26a1	T	C	5: 136,744,178	M383V	probably benign	Het
Col4a4	A	T	1: 82,453,778	M1595K	unknown	Het
Crh	T	C	3: 19,694,337	E47G	probably benign	Het
Cyhr1	T	C	15: 76,658,708		probably null	Het
D930020B18Rik	T	C	10: 121,661,148		probably null	Het
Def6	G	A	17: 28,226,163	R482H	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dpagt1	T	C	9: 44,331,190	L241P	probably damaging	Het
E2f7	A	G	10: 110,774,681	E389G	probably damaging	Het
Eif2b1	T	C	5: 124,577,111	I53V	probably benign	Het
Fbxo4	A	G	15: 3,965,734	L376P	probably damaging	Het
Fgfr2	A	G	7: 130,185,278	S352P	possibly damaging	Het
Fkbpl	C	A	17: 34,645,414	P52Q	possibly damaging	Het
Fry	G	A	5: 150,386,014	R641H	probably damaging	Het
Fsip2	A	G	2: 82,990,086	T5388A	possibly damaging	Het
Gm12728	A	G	4: 105,794,349	K52R	probably damaging	Het
Gm8298	T	C	3: 59,861,057	Y3H	probably benign	Het
Gtf2a1l	A	G	17: 88,711,625	D379G	probably benign	Het
Gys1	A	T	7: 45,442,969	Y332F	possibly damaging	Het
Hoxa7	T	A	6: 52,216,614		probably benign	Het
Ifitm1	G	A	7: 140,969,606	V101I	probably benign	Het
Kalrn	T	A	16: 34,360,984	T95S	probably damaging	Het
Leng8	A	G	7: 4,145,413	Y728C	probably damaging	Het
Lonp2	G	T	8: 86,634,908	D238Y	possibly damaging	Het
Ltn1	A	C	16: 87,378,980	S1757A	probably damaging	Het
Man2a2	A	T	7: 80,364,071	S411T	probably damaging	Het
Mrps33	C	A	6: 39,805,370		probably null	Het
Muc16	C	T	9: 18,550,677		probably null	Het
Muc5ac	A	G	7: 141,809,071		probably benign	Het
Naip2	A	C	13: 100,162,041	S496A	probably benign	Het
Olfr1141	T	C	2: 87,753,468	N175S	probably damaging	Het
Olfr1204	A	T	2: 88,852,519	T190S	probably damaging	Het
Olfr122	T	G	17: 37,772,303	F217V	probably damaging	Het
Olfr1340	A	G	4: 118,726,733	Y162C	probably damaging	Het
Olfr50	T	A	2: 36,793,777	D180E	possibly damaging	Het
Olfr545	A	T	7: 102,494,139	V212D	probably damaging	Het
Pag1	T	A	3: 9,699,336	E252D	possibly damaging	Het
Plcd3	T	C	11: 103,077,767	Y366C	probably damaging	Het
Psg17	A	C	7: 18,814,450	S465R	probably damaging	Het
Ptpn9	G	T	9: 57,023,040	V50L	probably damaging	Het
Rab17	T	G	1: 90,958,961	S190R	probably benign	Het
Samd11	A	G	4: 156,249,078		probably null	Het
Slc17a5	A	G	9: 78,538,271	F434S	possibly damaging	Het
Slc22a15	A	G	3: 101,883,583	I202T	possibly damaging	Het
Slc8a1	G	T	17: 81,388,918	Q896K	probably benign	Het
Slc9a5	A	T	8: 105,358,393	K509*	probably null	Het
Slf2	A	C	19: 44,973,164	M1041L	probably benign	Het
Smn1	A	G	13: 100,128,500		probably null	Het
Snx9	T	C	17: 5,922,209		probably null	Het
Soat2	T	A	15: 102,162,055	L431Q	probably damaging	Het
Spam1	T	A	6: 24,796,930	N293K	probably benign	Het
Tatdn1	T	C	15: 58,923,911	T66A	possibly damaging	Het
Tmprss11g	A	T	5: 86,492,156	S205T	probably benign	Het
Tnpo3	G	T	6: 29,571,101	N431K	possibly damaging	Het
Trim39	T	C	17: 36,268,662	T31A	probably benign	Het
Tshz3	A	G	7: 36,752,339		probably null	Het
Ttll11	G	A	2: 35,902,754	T359M	probably damaging	Het
Ttn	T	G	2: 76,741,499	D26350A	probably damaging	Het
Ubr4	G	T	4: 139,431,751	V2472F	probably damaging	Het
Vsx2	C	T	12: 84,593,104	P265S	probably benign	Het
Wdr90	C	T	17: 25,845,911	G1708R	probably damaging	Het
Wnt11	A	G	7: 98,853,274	Y351C	probably damaging	Het
Xpo6	A	C	7: 126,112,885	N3K	probably damaging	Het
Zfp445	A	G	9: 122,857,566	S165P	probably benign	Het
Zfp953	A	T	13: 67,347,937	Y13*	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
R7268:Acsm5	UTSW	7	119537288	missense	probably benign	0.38
R7275:Acsm5	UTSW	7	119537288	missense	possibly damaging	0.81
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'- GCTCCAAATAATGAGGTGTGAAC -3'
(R):5'- CCCAGGACACAAGAGATGATTC -3'

Sequencing Primer
(F):5'- CAGTATTATCCATTCTAAAGGTGGGG -3'
(R):5'- GCATGGCATACGCTTGTAAC -3'

Posted On

2018-05-21