Mutagenetix > Incidental Mutation

Incidental Mutation 'R8738:Acsm4'

663166

Institutional Source

Beutler Lab

Gene Symbol

Acsm4

Ensembl Gene

ENSMUSG00000047026

Gene Name

acyl-CoA synthetase medium-chain family member 4

Synonyms

OMACS, O-MACS

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119690026-119714565 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119705041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 303 (D303G)

Ref Sequence

ENSEMBL: ENSMUSP00000045160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047045]

AlphaFold

Q80W40

Predicted Effect

probably benign
Transcript: ENSMUST00000047045
AA Change: D303G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026
AA Change: D303G

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	64	478	5.8e-83	PFAM
Pfam:AMP-binding_C	486	566	1.4e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	G	A	9: 15,284,918	T283M	probably damaging	Het
Abca9	A	G	11: 110,165,991	M1T	probably null	Het
Ackr1	T	C	1: 173,332,385	Y189C	probably damaging	Het
Arfgef2	A	T	2: 166,866,947	M1060L	probably benign	Het
Arhgef40	T	A	14: 52,000,957	F1298I	probably damaging	Het
Atg2a	T	C	19: 6,256,644	I1453T	probably benign	Het
B4galnt1	A	T	10: 127,171,715	D495V	probably benign	Het
Brpf3	T	A	17: 28,821,240	D878E	probably benign	Het
C3	A	G	17: 57,204,015	*1664R	probably null	Het
Cap2	A	G	13: 46,531,072	T73A	probably benign	Het
Ccr6	A	T	17: 8,256,562	I200F	probably damaging	Het
Cdc42bpb	C	T	12: 111,307,787	G1021R	probably benign	Het
Cidea	C	A	18: 67,366,415	S124*	probably null	Het
Cnst	C	A	1: 179,592,709	T135K	probably benign	Het
Crebbp	A	T	16: 4,119,088	M805K	probably benign	Het
Crybb1	A	G	5: 112,263,573	Y119C	probably damaging	Het
Cux1	G	T	5: 136,373,366	T121K	probably damaging	Het
Dnah11	A	T	12: 118,085,649		probably null	Het
Dnmbp	T	C	19: 43,912,238	T48A	probably damaging	Het
Dysf	G	A	6: 84,194,371	G1787E	probably damaging	Het
Gcm2	T	A	13: 41,104,620	R177S	probably benign	Het
Gdf6	G	T	4: 9,859,429	R170S	probably damaging	Het
Gm16686	A	T	4: 88,755,538	M18K	unknown	Het
Gm36864	C	T	7: 44,236,880	Q179*	probably null	Het
Golgb1	A	G	16: 36,916,313	D2015G	probably damaging	Het
Gtf2i	A	G	5: 134,295,520	L30P	probably damaging	Het
Herc2	A	G	7: 56,148,654	E1955G	possibly damaging	Het
Hes3	A	T	4: 152,287,675	D37E	probably damaging	Het
Igha	A	G	12: 113,259,524	V161A	probably damaging	Het
Isl2	T	G	9: 55,545,438	S327A	probably benign	Het
Itk	A	G	11: 46,340,712	L339P	probably damaging	Het
Kcnb2	T	C	1: 15,710,424	S507P	probably benign	Het
Lgals4	C	T	7: 28,841,496	R282C	probably damaging	Het
Lhfpl4	C	A	6: 113,194,073	V51L	possibly damaging	Het
Lhpp	A	G	7: 132,641,532	Y159C	probably damaging	Het
Lrwd1	C	A	5: 136,133,403	E159*	probably null	Het
Map3k13	A	G	16: 21,926,258	T856A	probably damaging	Het
Mcm8	A	G	2: 132,823,221	T206A	probably benign	Het
Megf6	A	G	4: 154,267,979	K1265R	probably benign	Het
Mrgprb2	A	G	7: 48,552,900	Y26H	probably benign	Het
Mug1	T	C	6: 121,840,249		probably benign	Het
Mysm1	C	T	4: 94,967,959	G134S	probably damaging	Het
Nlrp3	A	C	11: 59,549,390	I598L	probably benign	Het
Npas2	A	T	1: 39,292,716	I71F	possibly damaging	Het
Nr1h5	A	G	3: 102,954,699	S85P	probably benign	Het
Nrcam	T	A	12: 44,572,292	V868D	possibly damaging	Het
Oas1a	A	G	5: 120,901,956	F191L	probably damaging	Het
Olfr761	A	T	17: 37,952,782	Y81N	possibly damaging	Het
Orc3	A	T	4: 34,599,778	L125H	possibly damaging	Het
Osbpl7	A	G	11: 97,056,077	E402G	possibly damaging	Het
Otof	G	A	5: 30,388,624	Q462*	probably null	Het
Phlda2	A	C	7: 143,502,222	I90S	probably damaging	Het
Plin3	C	T	17: 56,286,490	V75I	probably benign	Het
Pms1	A	T	1: 53,282,036	S13T	possibly damaging	Het
Ppm1d	A	G	11: 85,345,906	K504E	probably damaging	Het
Rflna	A	T	5: 125,010,477	I93F	probably damaging	Het
Rnpc3	T	A	3: 113,621,156	M193L	probably benign	Het
Sema3e	A	T	5: 14,164,155	I145F	possibly damaging	Het
Serpinb1b	C	A	13: 33,087,517	N90K	probably damaging	Het
Sfswap	A	G	5: 129,543,281	D538G	possibly damaging	Het
Snx14	A	T	9: 88,407,400	D266E	possibly damaging	Het
Stat4	C	T	1: 52,076,552	T217M	possibly damaging	Het
Taf13	T	C	3: 108,578,128	M40T	probably damaging	Het
Tenm4	A	G	7: 96,873,840	T1530A	probably damaging	Het
Tenm4	C	T	7: 96,905,941	P2618S	probably benign	Het
Tnfrsf14	T	C	4: 154,923,253	I220M	possibly damaging	Het
Tnk2	T	C	16: 32,665,900	W60R	probably damaging	Het
Tph2	A	T	10: 115,179,709		probably benign	Het
Unc13b	A	T	4: 43,177,564	K2797N	unknown	Het
Upf1	G	A	8: 70,333,322	P996S	probably benign	Het
Upf1	C	G	8: 70,333,323	M995I	probably benign	Het
Vcan	C	T	13: 89,692,320	V1702M	probably benign	Het
Vmn2r57	T	C	7: 41,427,596	D382G	probably benign	Het
Xxylt1	C	T	16: 31,081,146	A64T	probably benign	Het
Zcchc8	A	G	5: 123,703,007	S407P	probably damaging	Het
Zdhhc19	T	A	16: 32,498,369	F109Y	probably damaging	Het
Zfp638	T	C	6: 83,954,763		probably null	Het
Zfp691	A	G	4: 119,170,664	S124P	probably damaging	Het
Zfp804a	T	A	2: 82,259,106	V1093D	probably damaging	Het
Zfp986	A	C	4: 145,898,980	Q70P	probably benign	Het

Other mutations in Acsm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01373:Acsm4	APN	7	119711419	nonsense	probably null
IGL01676:Acsm4	APN	7	119708643	missense	probably benign	0.00
IGL01801:Acsm4	APN	7	119707263	missense	possibly damaging	0.80
IGL02183:Acsm4	APN	7	119693852	splice site	probably null
IGL02220:Acsm4	APN	7	119711172	missense	probably damaging	1.00
IGL02637:Acsm4	APN	7	119710684	missense	probably damaging	1.00
IGL03290:Acsm4	APN	7	119703423	splice site	probably benign
I0000:Acsm4	UTSW	7	119711192	missense	probably damaging	1.00
PIT4382001:Acsm4	UTSW	7	119698575	missense	probably damaging	1.00
R1068:Acsm4	UTSW	7	119708710	missense	probably benign	0.00
R1386:Acsm4	UTSW	7	119698578	missense	probably benign
R1433:Acsm4	UTSW	7	119693819	missense	probably damaging	0.99
R1961:Acsm4	UTSW	7	119708740	missense	probably benign	0.04
R3957:Acsm4	UTSW	7	119703365	missense	possibly damaging	0.93
R4029:Acsm4	UTSW	7	119693785	missense	probably benign
R4072:Acsm4	UTSW	7	119698758	missense	probably benign	0.14
R4075:Acsm4	UTSW	7	119698758	missense	probably benign	0.14
R4076:Acsm4	UTSW	7	119698758	missense	probably benign	0.14
R4432:Acsm4	UTSW	7	119711387	missense	probably damaging	1.00
R4452:Acsm4	UTSW	7	119698574	missense	possibly damaging	0.92
R4757:Acsm4	UTSW	7	119698677	missense	probably benign
R4992:Acsm4	UTSW	7	119711417	missense	probably benign	0.43
R5046:Acsm4	UTSW	7	119703374	missense	probably damaging	0.99
R5473:Acsm4	UTSW	7	119712950	missense	probably damaging	1.00
R5662:Acsm4	UTSW	7	119694800	missense	possibly damaging	0.49
R5780:Acsm4	UTSW	7	119693845	missense	possibly damaging	0.66
R6957:Acsm4	UTSW	7	119711399	missense	probably damaging	1.00
R7579:Acsm4	UTSW	7	119693710	missense	probably benign	0.01
R7892:Acsm4	UTSW	7	119694666	missense	possibly damaging	0.48
R8716:Acsm4	UTSW	7	119708660	missense	probably damaging	1.00
R9616:Acsm4	UTSW	7	119694649	missense	probably benign	0.01
Z1177:Acsm4	UTSW	7	119711371	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACGCTAGTGTTTGCTTTTCAC -3'
(R):5'- CTTTCCTGCTGAGAACGTGG -3'

Sequencing Primer
(F):5'- TCTAAGAGGATGGAACCCCTATCCTG -3'
(R):5'- AACCGGAGGAATCTCTTC -3'

Posted On

2021-03-08