Mutagenetix > Incidental Mutation

Incidental Mutation 'R0423:Acsm3'

38586

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

038625-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0423 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119360106-119384119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119376382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 370 (Y370H)

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: Y370H

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

SMART Domains

Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935
AA Change: Y370H

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: Y370H

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

SMART Domains

Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935
AA Change: Y370H

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: Y370H

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

SMART Domains

Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935
AA Change: Y370H

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: Y370H

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

SMART Domains

Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935
AA Change: Y370H

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: Y370H

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

SMART Domains

Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935
AA Change: Y370H

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: ENSMUST00000154828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149598

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149766

Meta Mutation Damage Score

0.7191

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.9%

Validation Efficiency

99% (84/85)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,261,825 (GRCm39)		noncoding transcript	Het
A630001G21Rik	A	G	1: 85,654,187 (GRCm39)	I50T	probably benign	Het
Abhd12	T	C	2: 150,680,312 (GRCm39)	T264A	possibly damaging	Het
Ank2	G	T	3: 126,723,509 (GRCm39)	Y3789*	probably null	Het
Anxa4	C	T	6: 86,737,719 (GRCm39)	A1T	probably damaging	Het
Apba1	T	A	19: 23,922,362 (GRCm39)	V810D	probably damaging	Het
Bank1	A	G	3: 135,989,778 (GRCm39)	I104T	possibly damaging	Het
Birc6	T	C	17: 75,003,292 (GRCm39)	Y4721H	probably damaging	Het
Bmpr2	A	G	1: 59,907,669 (GRCm39)	T921A	probably benign	Het
Ccdc102a	A	C	8: 95,632,554 (GRCm39)		probably benign	Het
Ccdc141	C	A	2: 76,869,794 (GRCm39)	D904Y	probably damaging	Het
Ccdc96	A	G	5: 36,642,591 (GRCm39)	K199R	probably benign	Het
Cdh10	G	A	15: 18,986,965 (GRCm39)	V399I	probably benign	Het
Cenpk	A	G	13: 104,370,733 (GRCm39)	T85A	probably benign	Het
Col6a2	A	C	10: 76,450,751 (GRCm39)	V60G	possibly damaging	Het
Cops7b	A	G	1: 86,526,753 (GRCm39)	D119G	probably benign	Het
Cstf2t	A	G	19: 31,061,676 (GRCm39)	E404G	possibly damaging	Het
Ctnna2	A	T	6: 77,630,052 (GRCm39)	V134E	probably damaging	Het
Cwh43	A	C	5: 73,574,085 (GRCm39)	M250L	probably benign	Het
Daam2	T	A	17: 49,776,449 (GRCm39)	K813*	probably null	Het
Dhcr24	G	A	4: 106,443,733 (GRCm39)		probably benign	Het
Dnah8	G	T	17: 30,920,955 (GRCm39)	R1182L	probably benign	Het
Doc2a	C	T	7: 126,447,830 (GRCm39)	P25S	probably damaging	Het
Dst	A	G	1: 34,317,116 (GRCm39)	S6823G	possibly damaging	Het
Espl1	T	A	15: 102,212,421 (GRCm39)	L509*	probably null	Het
Fbxw19	C	T	9: 109,315,134 (GRCm39)	V143I	probably benign	Het
Fbxw5	A	G	2: 25,394,538 (GRCm39)	T171A	possibly damaging	Het
Gfra2	C	T	14: 71,133,521 (GRCm39)	T117M	probably damaging	Het
Gm454	T	A	5: 138,202,403 (GRCm39)		noncoding transcript	Het
Ilrun	A	C	17: 28,005,207 (GRCm39)	Y117D	probably damaging	Het
Kcnq4	A	G	4: 120,574,705 (GRCm39)	S120P	probably damaging	Het
Krt84	A	T	15: 101,437,155 (GRCm39)	L336Q	probably damaging	Het
Lilra6	T	A	7: 3,917,774 (GRCm39)		probably benign	Het
Mbnl2	G	A	14: 120,562,736 (GRCm39)	R29H	probably damaging	Het
Mcm3ap	G	A	10: 76,338,539 (GRCm39)	G1389D	probably benign	Het
Mettl13	A	T	1: 162,371,954 (GRCm39)	I305N	probably damaging	Het
Muc6	A	G	7: 141,238,548 (GRCm39)	S30P	probably benign	Het
Myh7	T	A	14: 55,216,646 (GRCm39)	Q1237L	probably benign	Het
Myo9a	T	G	9: 59,802,619 (GRCm39)	D2035E	probably damaging	Het
Nat10	A	G	2: 103,578,572 (GRCm39)	S211P	probably damaging	Het
Ntm	T	C	9: 29,090,395 (GRCm39)	Y108C	probably damaging	Het
Or14c39	T	C	7: 86,344,434 (GRCm39)	Y257H	possibly damaging	Het
Or7g25	A	T	9: 19,160,248 (GRCm39)	L149*	probably null	Het
Pcdhb16	A	G	18: 37,613,422 (GRCm39)	D794G	probably benign	Het
Phlpp1	A	G	1: 106,267,345 (GRCm39)	T753A	probably benign	Het
Pierce1	T	C	2: 28,356,036 (GRCm39)		probably benign	Het
Pnldc1	T	C	17: 13,108,963 (GRCm39)	Q511R	possibly damaging	Het
Ppip5k2	A	G	1: 97,689,152 (GRCm39)	S38P	possibly damaging	Het
Pygb	A	G	2: 150,665,904 (GRCm39)	K593E	probably benign	Het
Rangap1	A	T	15: 81,589,664 (GRCm39)	F564I	probably damaging	Het
Rictor	A	T	15: 6,803,381 (GRCm39)	I498F	possibly damaging	Het
Rnase12	A	T	14: 51,294,613 (GRCm39)	V22D	probably benign	Het
Rpl7l1	T	A	17: 47,091,324 (GRCm39)	M93L	probably benign	Het
Smg1	T	C	7: 117,776,103 (GRCm39)	R1396G	possibly damaging	Het
Snx19	C	A	9: 30,347,133 (GRCm39)	T692N	probably damaging	Het
Spag6	A	G	2: 18,715,404 (GRCm39)	D61G	probably benign	Het
Spen	T	A	4: 141,206,647 (GRCm39)	N660I	unknown	Het
Sptan1	T	G	2: 29,918,684 (GRCm39)	C2246G	probably null	Het
Svopl	A	G	6: 38,013,642 (GRCm39)		probably benign	Het
Taf2	A	T	15: 54,928,078 (GRCm39)	N108K	probably benign	Het
Thbs4	T	C	13: 92,893,079 (GRCm39)	D703G	probably damaging	Het
Tle6	G	T	10: 81,434,457 (GRCm39)	N47K	possibly damaging	Het
Usp48	G	T	4: 137,343,722 (GRCm39)	V452L	probably benign	Het
Ust	A	T	10: 8,173,912 (GRCm39)	S198T	probably damaging	Het
Wnk2	T	A	13: 49,248,894 (GRCm39)	M386L	possibly damaging	Het
Ywhaq	T	C	12: 21,441,382 (GRCm39)		probably benign	Het
Zfp11	C	T	5: 129,735,302 (GRCm39)	G53E	possibly damaging	Het
Zfp316	A	G	5: 143,238,993 (GRCm39)	S1009P	probably damaging	Het
Zfp963	A	G	8: 70,197,156 (GRCm39)	Y29H	probably damaging	Het
Zmym4	A	G	4: 126,776,112 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 128,019,607 (GRCm39)	I45T	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
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
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'- TGCAACAAGTGATCTCCACCCAGG -3'
(R):5'- TTCAGGGGACAAGAAACTCACAGC -3'

Sequencing Primer
(F):5'- AGAATGGCCTGCATATGGTCTC -3'
(R):5'- CCTTATCCCTCCAGTGATCATGAC -3'

Posted On

2013-05-23