Mutagenetix > Incidental Mutation

Incidental Mutation 'R6939:Acsm3'

540438

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

045053-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6939 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119360106-119384119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119377678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 401 (V401A)

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: V401A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935
AA Change: V401A

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: V401A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935
AA Change: V401A

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: V401A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935
AA Change: V401A

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: V401A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935
AA Change: V401A

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: V401A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935
AA Change: V401A

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

0.6661

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

99% (66/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	G	A	15: 60,792,244 (GRCm39)	P128L	probably damaging	Het
Arhgef11	C	A	3: 87,594,227 (GRCm39)	N93K	probably damaging	Het
C1ra	G	A	6: 124,489,760 (GRCm39)		probably null	Het
Camk2a	A	G	18: 61,091,226 (GRCm39)	E236G	probably damaging	Het
Cav2	C	A	6: 17,281,410 (GRCm39)	D17E	possibly damaging	Het
Ccdc149	T	C	5: 52,533,607 (GRCm39)	S520G	probably benign	Het
Chd4	C	A	6: 125,083,501 (GRCm39)	H674Q	probably damaging	Het
Clrn2	A	T	5: 45,611,096 (GRCm39)		probably benign	Het
Cntnap1	A	C	11: 101,077,337 (GRCm39)	I1000L	probably damaging	Het
Cyp2c67	T	C	19: 39,631,778 (GRCm39)	T140A	possibly damaging	Het
D7Ertd443e	T	C	7: 133,966,208 (GRCm39)		probably null	Het
Dcdc2c	G	T	12: 28,591,496 (GRCm39)	Q131K	probably benign	Het
Dmpk	T	A	7: 18,822,149 (GRCm39)	V369E	probably damaging	Het
Dnah11	A	T	12: 118,070,297 (GRCm39)	W1503R	probably damaging	Het
Dnai7	A	G	6: 145,120,945 (GRCm39)	F625L	possibly damaging	Het
Dok2	T	C	14: 71,013,045 (GRCm39)	V71A	probably benign	Het
Dqx1	A	T	6: 83,036,446 (GRCm39)	Q150L	probably damaging	Het
Extl3	A	G	14: 65,304,189 (GRCm39)	I740T	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat2	C	T	11: 55,143,300 (GRCm39)	W4183*	probably null	Het
Fkrp	C	T	7: 16,545,751 (GRCm39)	R37Q	probably benign	Het
Frem3	A	G	8: 81,341,774 (GRCm39)	K1356E	probably benign	Het
Fus	A	T	7: 127,571,741 (GRCm39)		probably benign	Het
Gabarapl2	C	A	8: 112,669,201 (GRCm39)	S53*	probably null	Het
Gjd3	A	C	11: 102,691,733 (GRCm39)	M90R	probably damaging	Het
Gm30083	C	T	14: 33,725,557 (GRCm39)		probably null	Het
Gm7356	T	A	17: 14,221,387 (GRCm39)	Y214F	probably benign	Het
Hexd	A	T	11: 121,113,164 (GRCm39)	D533V	probably benign	Het
Ift172	G	A	5: 31,414,930 (GRCm39)	A1364V	probably damaging	Het
Ighmbp2	A	T	19: 3,326,907 (GRCm39)	F186Y	probably damaging	Het
Inpp5e	C	A	2: 26,297,774 (GRCm39)		probably null	Het
Iqcb1	A	G	16: 36,660,274 (GRCm39)	T146A	possibly damaging	Het
Kcnmb2	A	G	3: 32,252,465 (GRCm39)	Y222C	probably damaging	Het
Kdm6b	A	G	11: 69,297,588 (GRCm39)	W284R	probably damaging	Het
Khdc4	T	A	3: 88,593,824 (GRCm39)	M71K	probably damaging	Het
Ksr2	T	A	5: 117,903,626 (GRCm39)	*952R	probably null	Het
Ldlrap1	C	A	4: 134,495,285 (GRCm39)		probably benign	Het
Mpdu1	G	A	11: 69,548,881 (GRCm39)		probably benign	Het
Mrgprh	A	T	17: 13,095,822 (GRCm39)	T21S	probably benign	Het
Muc16	T	A	9: 18,549,833 (GRCm39)	T5487S	probably benign	Het
Mydgf	A	G	17: 56,490,737 (GRCm39)		probably null	Het
Napa	T	C	7: 15,849,182 (GRCm39)	C241R	possibly damaging	Het
Or10ab4	C	A	7: 107,654,312 (GRCm39)	A41E	possibly damaging	Het
Or10n7-ps1	T	C	9: 39,598,187 (GRCm39)	T18A	possibly damaging	Het
Or5k17	A	T	16: 58,746,648 (GRCm39)	Y95*	probably null	Het
Pla2g4f	A	T	2: 120,137,782 (GRCm39)	L326Q	probably damaging	Het
Pramel16	T	C	4: 143,675,366 (GRCm39)	T487A	probably benign	Het
Psme4	T	A	11: 30,787,291 (GRCm39)	Y1029N	probably damaging	Het
Ptprj	T	C	2: 90,289,858 (GRCm39)	T707A	possibly damaging	Het
Raet1e	T	A	10: 22,050,256 (GRCm39)	M13K	possibly damaging	Het
Rftn2	T	C	1: 55,233,508 (GRCm39)		probably null	Het
Rmi1	A	G	13: 58,557,169 (GRCm39)	I473V	probably benign	Het
Rps6ka4	A	G	19: 6,815,437 (GRCm39)	F186L	probably damaging	Het
Ryr1	T	A	7: 28,751,751 (GRCm39)	M3672L	possibly damaging	Het
Smarca5	A	T	8: 81,431,949 (GRCm39)	C890S	possibly damaging	Het
Spata31d1e	T	A	13: 59,889,872 (GRCm39)	K231N	possibly damaging	Het
Tdrd12	C	T	7: 35,185,024 (GRCm39)		probably null	Het
Tecta	T	C	9: 42,259,293 (GRCm39)	N1530S	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Tmem94	A	G	11: 115,676,656 (GRCm39)	S54G	possibly damaging	Het
Tnk2	T	C	16: 32,482,696 (GRCm39)	V41A	probably damaging	Het
Trpm1	A	G	7: 63,918,045 (GRCm39)	T462A	probably benign	Het
Tsg101	T	C	7: 46,556,847 (GRCm39)	T61A	probably benign	Het
Usp42	T	C	5: 143,713,724 (GRCm39)	N17D	probably damaging	Het
Zfp607a	T	A	7: 27,578,473 (GRCm39)	C514*	probably null	Het
Zfp866	G	T	8: 70,218,871 (GRCm39)	Q250K	probably damaging	Het

Other mutations in Acsm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Acsm3	APN	7	119,383,567 (GRCm39)	missense	probably damaging	1.00
IGL01434:Acsm3	APN	7	119,380,297 (GRCm39)	unclassified	probably benign
IGL01446:Acsm3	APN	7	119,377,677 (GRCm39)	missense	probably damaging	1.00
IGL01800:Acsm3	APN	7	119,373,866 (GRCm39)	missense	possibly damaging	0.68
IGL01882:Acsm3	APN	7	119,373,858 (GRCm39)	missense	probably damaging	0.99
IGL01954:Acsm3	APN	7	119,374,306 (GRCm39)	splice site	probably benign
PIT4677001:Acsm3	UTSW	7	119,374,340 (GRCm39)	missense	probably damaging	1.00
PIT4696001:Acsm3	UTSW	7	119,384,209 (GRCm39)	splice site	probably null
R0422:Acsm3	UTSW	7	119,372,963 (GRCm39)	nonsense	probably null
R0423:Acsm3	UTSW	7	119,376,382 (GRCm39)	missense	probably damaging	1.00
R0729:Acsm3	UTSW	7	119,383,207 (GRCm39)	utr 3 prime	probably benign
R0731:Acsm3	UTSW	7	119,367,247 (GRCm39)	nonsense	probably null
R0732:Acsm3	UTSW	7	119,373,057 (GRCm39)	missense	probably benign	0.40
R0744:Acsm3	UTSW	7	119,376,323 (GRCm39)	missense	possibly damaging	0.84
R0836:Acsm3	UTSW	7	119,376,323 (GRCm39)	missense	possibly damaging	0.84
R1926:Acsm3	UTSW	7	119,376,359 (GRCm39)	missense	probably damaging	1.00
R2104:Acsm3	UTSW	7	119,383,527 (GRCm39)	missense	probably benign
R2429:Acsm3	UTSW	7	119,367,223 (GRCm39)	missense	probably benign
R3940:Acsm3	UTSW	7	119,373,109 (GRCm39)	missense	probably benign	0.03
R4386:Acsm3	UTSW	7	119,373,094 (GRCm39)	missense	probably damaging	1.00
R5437:Acsm3	UTSW	7	119,377,720 (GRCm39)	intron	probably benign
R5890:Acsm3	UTSW	7	119,374,457 (GRCm39)	missense	probably benign
R6278:Acsm3	UTSW	7	119,373,072 (GRCm39)	missense	probably damaging	1.00
R6350:Acsm3	UTSW	7	119,367,256 (GRCm39)	missense	probably benign
R6497:Acsm3	UTSW	7	119,379,972 (GRCm39)	critical splice acceptor site	probably null
R6582:Acsm3	UTSW	7	119,378,896 (GRCm39)	missense	probably benign
R6670:Acsm3	UTSW	7	119,379,978 (GRCm39)	splice site	probably null
R7037:Acsm3	UTSW	7	119,367,266 (GRCm39)	missense	probably damaging	1.00
R7087:Acsm3	UTSW	7	119,373,870 (GRCm39)	missense	probably damaging	1.00
R7301:Acsm3	UTSW	7	119,376,308 (GRCm39)	missense	possibly damaging	0.92
R7381:Acsm3	UTSW	7	119,380,049 (GRCm39)	missense	probably damaging	0.98
R7396:Acsm3	UTSW	7	119,373,052 (GRCm39)	missense	probably damaging	1.00
R7594:Acsm3	UTSW	7	119,384,213 (GRCm39)	splice site	probably null
R8676:Acsm3	UTSW	7	119,374,392 (GRCm39)	missense	probably damaging	1.00
R9026:Acsm3	UTSW	7	119,373,845 (GRCm39)	missense	probably benign	0.29
R9221:Acsm3	UTSW	7	119,368,131 (GRCm39)	nonsense	probably null
R9283:Acsm3	UTSW	7	119,373,115 (GRCm39)	missense	possibly damaging	0.73
R9483:Acsm3	UTSW	7	119,383,166 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

Sequencing Primer
(F):5'- CATTCCATGATGGGTTTTATGTTGAC -3'
(R):5'- GGGTTTTTCTGGACATTAAACAGATC -3'

Posted On

2018-11-06