Mutagenetix > Incidental Mutation

Incidental Mutation 'R5437:Acsm3'

428423

Institutional Source

Beutler Lab

Gene Symbol

Acsm3

Ensembl Gene

ENSMUSG00000030935

Gene Name

acyl-CoA synthetase medium-chain family member 3

Synonyms

Sah, Sa

MMRRC Submission

043002-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119760923-119787513 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 119778497 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063770] [ENSMUST00000063902] [ENSMUST00000106523] [ENSMUST00000106526] [ENSMUST00000106527] [ENSMUST00000106528] [ENSMUST00000106529]

AlphaFold

Q3UNX5

Predicted Effect

probably benign
Transcript: ENSMUST00000063770

SMART Domains

Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	65	478	3.7e-86	PFAM
Pfam:AMP-binding_C	486	566	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063902

SMART Domains

Protein: ENSMUSP00000068633
Gene: ENSMUSG00000030929

Domain	Start	End	E-Value	Type
EXOIII	36	235	1.41e-13	SMART
transmembrane domain	245	262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106523

SMART Domains

Protein: ENSMUSP00000102133
Gene: ENSMUSG00000030929

Domain	Start	End	E-Value	Type
EXOIII	36	235	1.41e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106526

SMART Domains

Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	65	478	3.7e-86	PFAM
Pfam:AMP-binding_C	486	566	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106527

SMART Domains

Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	65	478	3.7e-86	PFAM
Pfam:AMP-binding_C	486	566	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106528

SMART Domains

Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	65	478	3.7e-86	PFAM
Pfam:AMP-binding_C	486	566	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106529

SMART Domains

Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	65	478	1.1e-78	PFAM
Pfam:AMP-binding_C	486	566	9.3e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125595

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154828

Meta Mutation Damage Score

0.4476

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (63/65)

MGI Phenotype

PHENOTYPE: Homozygous null mice are viable and fertile with normal kidney function and morphology and blood pressure similar to wild-type on either a regular or high salt diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,319,796	Q186*	probably null	Het
Acaca	G	A	11: 84,346,820		probably null	Het
Aoc1	C	A	6: 48,907,750	Q576K	probably benign	Het
Atp6v0a4	T	A	6: 38,076,733	N378I	probably damaging	Het
BC003331	T	G	1: 150,363,518	I385L	probably benign	Het
Cacna1i	A	T	15: 80,371,529	H871L	probably damaging	Het
Clic4	C	G	4: 135,217,246	R206P	probably damaging	Het
Commd9	G	A	2: 101,901,028	G186D	probably damaging	Het
Cpne9	C	T	6: 113,304,630		probably benign	Het
Crhr2	C	T	6: 55,100,733	V196I	probably damaging	Het
Dctn5	T	A	7: 122,133,329		probably benign	Het
Dhtkd1	C	T	2: 5,924,119	R247Q	probably benign	Het
Dmrta1	G	A	4: 89,691,756	G318R	possibly damaging	Het
Dpp6	T	A	5: 27,663,501	Y487*	probably null	Het
Eef1akmt3	A	T	10: 127,033,247	N119K	probably damaging	Het
Eloa	A	T	4: 136,012,885	L75Q	probably damaging	Het
Fat3	G	A	9: 16,085,308	T1202M	probably damaging	Het
Fcho2	A	G	13: 98,777,474	I205T	possibly damaging	Het
Fkbp10	A	C	11: 100,421,023	D174A	probably damaging	Het
Gcnt2	T	A	13: 40,861,176	F274L	probably damaging	Het
Gtf3c1	A	T	7: 125,667,368	C969S	probably damaging	Het
Hook3	T	C	8: 26,061,422	E130G	probably benign	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Itsn1	T	A	16: 91,818,591		probably benign	Het
Kif13b	C	T	14: 64,806,114	R1788C	probably damaging	Het
Kif3a	C	T	11: 53,598,726	S135F	probably damaging	Het
Klf5	C	T	14: 99,301,459	R23*	probably null	Het
Lcn5	A	G	2: 25,658,011	I11V	probably benign	Het
Mpp7	A	T	18: 7,458,930		probably null	Het
Mroh5	T	C	15: 73,787,969	I338V	probably benign	Het
Mthfd2l	A	G	5: 90,948,898	N126S	possibly damaging	Het
Myo18b	G	T	5: 112,757,573	A2053E	possibly damaging	Het
Naip6	A	T	13: 100,303,304	C318*	probably null	Het
Ndufs7	C	T	10: 80,254,924	R116C	possibly damaging	Het
Olfr1378	T	C	11: 50,969,108	M30T	probably benign	Het
Pnkd	T	C	1: 74,349,737	V214A	possibly damaging	Het
Popdc2	T	G	16: 38,362,901	V82G	probably benign	Het
Prkdc	A	T	16: 15,769,875	L2541F	possibly damaging	Het
Ptpn9	A	T	9: 57,020,037	H66L	possibly damaging	Het
Pygm	T	A	19: 6,390,382	N397K	probably damaging	Het
Rabgap1l	T	A	1: 160,722,147	E324D	probably damaging	Het
Rnf6	G	A	5: 146,210,280	R643C	probably damaging	Het
Ryr2	C	T	13: 11,655,713	V3466M	probably damaging	Het
Scn7a	A	G	2: 66,676,346	Y1400H	probably damaging	Het
Sept10	T	A	10: 59,176,959	N279I	probably damaging	Het
Sh3rf2	A	T	18: 42,141,014	Y415F	probably benign	Het
Sorcs1	T	C	19: 50,252,602	T449A	probably benign	Het
Tcam1	C	T	11: 106,285,423	T325M	probably damaging	Het
Tctn1	A	G	5: 122,258,879	I147T	probably benign	Het
Tet1	G	T	10: 62,814,451	H30Q	probably benign	Het
Tmem109	A	G	19: 10,872,014	I159T	probably damaging	Het
Tmem40	C	T	6: 115,759,031		probably benign	Het
Tnfrsf21	C	T	17: 43,037,862	P122S	possibly damaging	Het
Uaca	A	G	9: 60,871,451	D1038G	probably benign	Het
Ubr2	C	G	17: 46,963,697	E852D	probably benign	Het
Ubr3	A	T	2: 69,944,390	N518I	probably damaging	Het
Unc80	T	G	1: 66,654,578	L2596R	possibly damaging	Het
Zcchc3	G	A	2: 152,414,732	P16S	probably benign	Het

Other mutations in Acsm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Acsm3	APN	7	119784344	missense	probably damaging	1.00
IGL01434:Acsm3	APN	7	119781074	unclassified	probably benign
IGL01446:Acsm3	APN	7	119778454	missense	probably damaging	1.00
IGL01800:Acsm3	APN	7	119774643	missense	possibly damaging	0.68
IGL01882:Acsm3	APN	7	119774635	missense	probably damaging	0.99
IGL01954:Acsm3	APN	7	119775083	splice site	probably benign
PIT4677001:Acsm3	UTSW	7	119775117	missense	probably damaging	1.00
PIT4696001:Acsm3	UTSW	7	119784986	splice site	probably null
R0422:Acsm3	UTSW	7	119773740	nonsense	probably null
R0423:Acsm3	UTSW	7	119777159	missense	probably damaging	1.00
R0729:Acsm3	UTSW	7	119783984	utr 3 prime	probably benign
R0731:Acsm3	UTSW	7	119768024	nonsense	probably null
R0732:Acsm3	UTSW	7	119773834	missense	probably benign	0.40
R0744:Acsm3	UTSW	7	119777100	missense	possibly damaging	0.84
R0836:Acsm3	UTSW	7	119777100	missense	possibly damaging	0.84
R1926:Acsm3	UTSW	7	119777136	missense	probably damaging	1.00
R2104:Acsm3	UTSW	7	119784304	missense	probably benign
R2429:Acsm3	UTSW	7	119768000	missense	probably benign
R3940:Acsm3	UTSW	7	119773886	missense	probably benign	0.03
R4386:Acsm3	UTSW	7	119773871	missense	probably damaging	1.00
R5890:Acsm3	UTSW	7	119775234	missense	probably benign
R6278:Acsm3	UTSW	7	119773849	missense	probably damaging	1.00
R6350:Acsm3	UTSW	7	119768033	missense	probably benign
R6497:Acsm3	UTSW	7	119780749	critical splice acceptor site	probably null
R6582:Acsm3	UTSW	7	119779673	missense	probably benign
R6670:Acsm3	UTSW	7	119780755	splice site	probably null
R6939:Acsm3	UTSW	7	119778455	missense	probably damaging	1.00
R7037:Acsm3	UTSW	7	119768043	missense	probably damaging	1.00
R7087:Acsm3	UTSW	7	119774647	missense	probably damaging	1.00
R7301:Acsm3	UTSW	7	119777085	missense	possibly damaging	0.92
R7381:Acsm3	UTSW	7	119780826	missense	probably damaging	0.98
R7396:Acsm3	UTSW	7	119773829	missense	probably damaging	1.00
R7594:Acsm3	UTSW	7	119784990	splice site	probably null
R8676:Acsm3	UTSW	7	119775169	missense	probably damaging	1.00
R9026:Acsm3	UTSW	7	119774622	missense	probably benign	0.29
R9221:Acsm3	UTSW	7	119768908	nonsense	probably null
R9283:Acsm3	UTSW	7	119773892	missense	possibly damaging	0.73
R9483:Acsm3	UTSW	7	119783943	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAGTTTCTGCATTCCATGATGG -3'
(R):5'- CTGCATAGTCACCTACAAAATGTTG -3'

Sequencing Primer
(F):5'- TGTTGACTGAATGCACAATAGACAG -3'
(R):5'- CTTGTAAATGCCCAGAATCC -3'

Posted On

2016-09-01