Mutagenetix > Incidental Mutation

Incidental Mutation 'R5890:Acsm3'

457098

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

044091-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5890 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119360106-119384119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 119374457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 303 (T303N)

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
AA Change: T303N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935
AA Change: T303N

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
AA Change: T303N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935
AA Change: T303N

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
AA Change: T303N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935
AA Change: T303N

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
AA Change: T303N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935
AA Change: T303N

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
AA Change: T303N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935
AA Change: T303N

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: ENSMUST00000149766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149598

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,550,554 (GRCm39)		probably null	Het
Adamts13	A	T	2: 26,876,603 (GRCm39)	R506W	probably damaging	Het
Adck5	C	T	15: 76,477,785 (GRCm39)	T166M	probably damaging	Het
Adcy8	T	A	15: 64,687,266 (GRCm39)	I413F	probably damaging	Het
Adgrl2	A	T	3: 148,564,811 (GRCm39)	D252E	probably damaging	Het
Aldh16a1	T	A	7: 44,793,969 (GRCm39)	T636S	probably benign	Het
Ampd1	C	A	3: 102,997,391 (GRCm39)	F264L	probably damaging	Het
Arhgap17	T	C	7: 122,885,981 (GRCm39)		probably benign	Het
Babam2	A	G	5: 32,222,151 (GRCm39)		probably benign	Het
Bltp2	C	T	11: 78,164,096 (GRCm39)	Q40*	probably null	Het
Bod1l	T	A	5: 41,977,921 (GRCm39)	E1131V	probably benign	Het
Cbs	C	T	17: 31,832,193 (GRCm39)	V553M	probably damaging	Het
Cd72	T	C	4: 43,454,475 (GRCm39)	K18R	probably damaging	Het
Cep89	A	G	7: 35,128,587 (GRCm39)	Y580C	probably damaging	Het
Chrnb1	T	A	11: 69,683,555 (GRCm39)	I264F	possibly damaging	Het
Cntf	A	G	19: 12,741,357 (GRCm39)	W168R	probably damaging	Het
Cxxc1	T	A	18: 74,354,237 (GRCm39)	D648E	possibly damaging	Het
Cyp2c68	A	T	19: 39,700,936 (GRCm39)	L294Q	probably damaging	Het
Dab2ip	T	C	2: 35,605,414 (GRCm39)	S532P	probably damaging	Het
Defb3	G	A	8: 19,345,200 (GRCm39)	C52Y	probably damaging	Het
Dennd5a	T	G	7: 109,533,428 (GRCm39)	E114A	probably benign	Het
Dnah12	T	C	14: 26,428,039 (GRCm39)	F222L	probably benign	Het
Dock9	A	C	14: 121,905,820 (GRCm39)		probably null	Het
Fras1	A	T	5: 96,793,807 (GRCm39)	H1043L	probably benign	Het
Gamt	C	A	10: 80,095,741 (GRCm39)	R63L	possibly damaging	Het
Gm1527	A	G	3: 28,969,544 (GRCm39)	H298R	probably benign	Het
Gphb5	C	T	12: 75,462,596 (GRCm39)		probably null	Het
Greb1	A	T	12: 16,783,422 (GRCm39)	V104D	possibly damaging	Het
Hck	A	G	2: 152,970,996 (GRCm39)	D86G	probably damaging	Het
Jhy	T	A	9: 40,833,958 (GRCm39)	K321*	probably null	Het
Kcna5	C	T	6: 126,511,699 (GRCm39)	R143H	probably damaging	Het
Kif19a	G	T	11: 114,680,264 (GRCm39)	W867L	possibly damaging	Het
Map3k4	G	A	17: 12,490,303 (GRCm39)	A376V	probably damaging	Het
Mars1	A	T	10: 127,133,914 (GRCm39)	M661K	probably benign	Het
Mecp2	C	T	X: 73,079,043 (GRCm39)	V496M	probably damaging	Het
Mfsd2b	A	T	12: 4,917,651 (GRCm39)	C132S	probably damaging	Het
Mfsd4a	T	C	1: 131,966,666 (GRCm39)	Y356C	probably damaging	Het
Mif4gd	G	T	11: 115,500,188 (GRCm39)	A89E	probably benign	Het
Mkln1	A	T	6: 31,467,482 (GRCm39)	E593D	probably benign	Het
Mlh1	G	T	9: 111,057,563 (GRCm39)	N749K	possibly damaging	Het
Mrgprb2	T	A	7: 48,201,707 (GRCm39)	*339C	probably null	Het
Nphp4	T	C	4: 152,631,536 (GRCm39)	V812A	probably benign	Het
Nrcam	G	T	12: 44,623,554 (GRCm39)	V1048L	probably benign	Het
Obsl1	G	A	1: 75,470,503 (GRCm39)	A856V	probably damaging	Het
Osgepl1	T	A	1: 53,357,326 (GRCm39)	F163I	probably damaging	Het
Pcdha6	C	A	18: 37,102,121 (GRCm39)	T438K	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,286 (GRCm39)	M271L	probably benign	Het
Phip	T	C	9: 82,789,005 (GRCm39)	T770A	probably benign	Het
Ppm1d	A	G	11: 85,217,734 (GRCm39)	T166A	probably damaging	Het
Ptprf	A	T	4: 118,081,932 (GRCm39)	I1102K	probably benign	Het
Sbsn	T	C	7: 30,452,692 (GRCm39)	V569A	possibly damaging	Het
Skida1	T	A	2: 18,050,814 (GRCm39)		probably benign	Het
Smg1	T	A	7: 117,789,809 (GRCm39)		probably benign	Het
Sorcs2	A	G	5: 36,386,535 (GRCm39)	Y168H	probably damaging	Het
Sufu	A	T	19: 46,443,172 (GRCm39)		probably null	Het
Tbc1d24	A	T	17: 24,404,500 (GRCm39)	W215R	probably damaging	Het
Tenm4	T	C	7: 96,552,067 (GRCm39)	L2502P	probably damaging	Het
Tgm4	A	T	9: 122,890,703 (GRCm39)	E10V	probably damaging	Het
Trip11	T	C	12: 101,852,231 (GRCm39)	E611G	probably damaging	Het
Ttn	C	A	2: 76,540,243 (GRCm39)	A34248S	possibly damaging	Het
Ube3a	T	A	7: 58,921,776 (GRCm39)	N49K	probably damaging	Het
Ube3c	A	G	5: 29,863,290 (GRCm39)	D855G	possibly damaging	Het
Ugt8a	A	G	3: 125,669,202 (GRCm39)	S301P	probably benign	Het
Wdfy4	T	A	14: 32,824,534 (GRCm39)	N1295I	possibly damaging	Het
Wdr47	G	T	3: 108,517,328 (GRCm39)	G43C	probably damaging	Het
Wdtc1	A	C	4: 133,021,673 (GRCm39)	L601W	unknown	Het
Zfp236	A	G	18: 82,658,276 (GRCm39)	F614S	possibly damaging	Het
Zfp637	T	A	6: 117,822,047 (GRCm39)	D58E	possibly 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
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
R6939:Acsm3	UTSW	7	119,377,678 (GRCm39)	missense	probably damaging	1.00
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'- ACTGAGGCTATACTATAAAACCTGC -3'
(R):5'- ACTGTAGTGTTAATCGGCCAG -3'

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

Posted On

2017-02-15