Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Acsm3'

661387

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

068531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119760923-119787513 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119775169 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 281 (S281R)

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 damaging
Transcript: ENSMUST00000063770
AA Change: S281R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935
AA Change: S281R

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 damaging
Transcript: ENSMUST00000106526
AA Change: S281R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935
AA Change: S281R

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 damaging
Transcript: ENSMUST00000106527
AA Change: S281R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935
AA Change: S281R

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 damaging
Transcript: ENSMUST00000106528
AA Change: S281R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935
AA Change: S281R

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 damaging
Transcript: ENSMUST00000106529
AA Change: S281R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935
AA Change: S281R

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

0.3241

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	A	G	4: 107,895,599	N152D	unknown	Het
1700021F05Rik	A	G	10: 43,532,937	L70S	probably benign	Het
Adipor2	G	T	6: 119,363,486		probably benign	Het
Alk	T	C	17: 71,897,941	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,602,584		probably null	Het
Anxa6	C	A	11: 55,001,282	E283*	probably null	Het
Bnc2	T	C	4: 84,276,313	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,508,069	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,460,860	S449P	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cfap43	A	T	19: 47,748,017	L1345H	possibly damaging	Het
Cyld	A	T	8: 88,729,510	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,379,420	T340A	possibly damaging	Het
Dera	A	T	6: 137,830,204	I217F	probably damaging	Het
Dnah11	A	G	12: 118,190,804	L247P	probably damaging	Het
Eftud2	G	A	11: 102,868,621	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,443,776	T169M	probably benign	Het
Fam186a	T	C	15: 99,947,142	D407G	unknown	Het
Fam189a2	T	C	19: 23,988,494	K214E	probably damaging	Het
Gli3	T	A	13: 15,715,034	C578S	probably damaging	Het
Gm436	G	A	4: 144,670,113	R350C	possibly damaging	Het
Gm6408	A	G	5: 146,482,427	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,887,919		probably benign	Het
Herc2	C	A	7: 56,188,613	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,643,073		probably benign	Het
Hyal4	C	A	6: 24,755,827	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Kcna3	A	G	3: 107,036,592	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,591,596	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430		probably null	Het
Myh13	T	A	11: 67,342,485	L610Q	probably damaging	Het
Olfr1020	T	A	2: 85,849,902	M150K	probably benign	Het
Olfr1339	C	A	4: 118,735,038	P170T	probably damaging	Het
Olfr917	T	C	9: 38,665,768	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,321,076	T170S	probably benign	Het
Polr3b	T	A	10: 84,680,387	H626Q	probably benign	Het
Prkg1	A	T	19: 31,764,746	L26Q	probably damaging	Het
Prob1	T	C	18: 35,653,986	N405S	possibly damaging	Het
Proz	T	G	8: 13,073,630	S300R	probably damaging	Het
Psg19	A	G	7: 18,794,065	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,229,952	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,228,976	Y103N	probably damaging	Het
Rspry1	G	C	8: 94,632,119	G194R	probably benign	Het
Scn2b	A	G	9: 45,125,619	I142V	probably damaging	Het
Spata20	A	T	11: 94,481,781	L588H	probably damaging	Het
Stk32b	T	A	5: 37,457,159	H335L	probably benign	Het
Taar4	A	C	10: 23,960,903	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,446,708		probably benign	Het
Tek	A	T	4: 94,849,837	H708L	probably benign	Het
Tmem89	C	T	9: 108,915,027	L132F	unknown	Het
Ugt2b38	T	C	5: 87,411,822	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,322,829	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,475,252	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,053,760	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,962,379		probably benign	Het
Zfp423	C	A	8: 87,782,710	M335I	probably benign	Het
Zfp74	T	C	7: 29,934,654	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,662,840	S116R	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
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
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'- AGGTATTTTCCCAGAACTGAGG -3'
(R):5'- GACATCTGAAAACTCCCAATCTCTG -3'

Sequencing Primer
(F):5'- TTCAATGCCCCAGTGTAGGAATG -3'
(R):5'- TGAAAACTCCCAATCTCTGTTTAC -3'

Posted On

2021-03-08