Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Acsm3'

67557

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

038912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0731 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

119760923-119787513 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 119768024 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 27 (R27*)

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 null
Transcript: ENSMUST00000063770
AA Change: R27*

SMART Domains

Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935
AA Change: R27*

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 null
Transcript: ENSMUST00000106526
AA Change: R27*

SMART Domains

Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935
AA Change: R27*

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 null
Transcript: ENSMUST00000106527
AA Change: R27*

SMART Domains

Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935
AA Change: R27*

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 null
Transcript: ENSMUST00000106528
AA Change: R27*

SMART Domains

Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935
AA Change: R27*

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 null
Transcript: ENSMUST00000106529
AA Change: R27*

SMART Domains

Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935
AA Change: R27*

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

Meta Mutation Damage Score

0.9706

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	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
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
R5437:Acsm3	UTSW	7	119778497	intron	probably benign
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'- ATGGGTGTGGCCCAGACAAATC -3'
(R):5'- CACTTGCAGTTGAACTCACTGAAGC -3'

Sequencing Primer
(F):5'- agcaaagcatcaaagcacag -3'
(R):5'- GAACTCACTGAAGCAAGTTCG -3'

Posted On

2013-09-03