Mutagenetix > Incidental Mutation

Incidental Mutation 'R5369:Sirt3'

429548

Institutional Source

Beutler Lab

Gene Symbol

Sirt3

Ensembl Gene

ENSMUSG00000025486

Gene Name

sirtuin 3

Synonyms

Sir2l3, 2310003L23Rik

MMRRC Submission

042946-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5369 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140443579-140462222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140449406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 180 (L180Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026559] [ENSMUST00000106048] [ENSMUST00000137024] [ENSMUST00000147331] [ENSMUST00000210296] [ENSMUST00000211179]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000026559
AA Change: L180Q

SMART Domains

Protein: ENSMUSP00000026559
Gene: ENSMUSG00000025486
AA Change: L180Q

Domain	Start	End	E-Value	Type
Pfam:SIR2	3	184	5.3e-57	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000106048
AA Change: L180Q

SMART Domains

Protein: ENSMUSP00000101663
Gene: ENSMUSG00000025486
AA Change: L180Q

Domain	Start	End	E-Value	Type
Pfam:SIR2	3	184	8.7e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137024

SMART Domains

Protein: ENSMUSP00000114247
Gene: ENSMUSG00000025486

Domain	Start	End	E-Value	Type
Pfam:SIR2	3	178	1.7e-37	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000147331
AA Change: L257Q

SMART Domains

Protein: ENSMUSP00000121151
Gene: ENSMUSG00000025486
AA Change: L257Q

Domain	Start	End	E-Value	Type
low complexity region	16	36	N/A	INTRINSIC
low complexity region	43	54	N/A	INTRINSIC
Pfam:SIR2	80	258	1.9e-54	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000210296
AA Change: L180Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210706

Predicted Effect

probably damaging
Transcript: ENSMUST00000211179
AA Change: L180Q

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

Meta Mutation Damage Score

0.9602

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class I of the sirtuin family. Two alternatively spliced transcript variants that encode different proteins have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one null allele exhibit increased systolic blood pressure while mice homozygous for another allele exhibit reduced ATP production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,545,796 (GRCm39)	T444A	probably damaging	Het
A330070K13Rik	G	A	5: 130,407,932 (GRCm39)		probably benign	Het
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Acbd5	T	A	2: 23,002,522 (GRCm39)	L508Q	probably damaging	Het
Asb15	T	C	6: 24,562,563 (GRCm39)	V175A	probably benign	Het
B3galnt2	T	C	13: 14,169,010 (GRCm39)		probably null	Het
BC024139	A	C	15: 76,004,422 (GRCm39)	S711R	probably benign	Het
Bod1l	A	G	5: 41,984,526 (GRCm39)	I508T	probably damaging	Het
Btnl6	T	A	17: 34,726,959 (GRCm39)	R524*	probably null	Het
C3	C	A	17: 57,528,159 (GRCm39)	D687Y	probably benign	Het
Ccbe1	G	A	18: 66,194,485 (GRCm39)	A367V	probably benign	Het
Ccr1	A	T	9: 123,764,326 (GRCm39)	M68K	probably damaging	Het
Cd27	T	A	6: 125,211,327 (GRCm39)		probably benign	Het
Celf2	C	A	2: 7,085,892 (GRCm39)		probably benign	Het
Cfap54	T	C	10: 92,897,119 (GRCm39)		probably benign	Het
Cfap97	A	G	8: 46,622,687 (GRCm39)	K26E	probably damaging	Het
Clcn4	T	A	7: 7,299,032 (GRCm39)	I48F	probably benign	Het
Cnot7	A	T	8: 40,947,061 (GRCm39)	N238K	probably benign	Het
Colec12	A	G	18: 9,866,750 (GRCm39)	I654V	unknown	Het
Dip2a	A	G	10: 76,128,194 (GRCm39)	I22T	probably damaging	Het
Eif4g3	C	T	4: 137,910,645 (GRCm39)	T1375M	possibly damaging	Het
Eml5	C	T	12: 98,825,042 (GRCm39)	G725D	probably damaging	Het
F12	T	C	13: 55,566,304 (GRCm39)	E496G	probably benign	Het
Fam227a	A	T	15: 79,499,637 (GRCm39)	S573T	probably benign	Het
Fnip1	T	C	11: 54,393,415 (GRCm39)	V593A	probably benign	Het
Focad	T	A	4: 88,039,610 (GRCm39)		probably benign	Het
Frem1	A	G	4: 82,919,976 (GRCm39)	I460T	possibly damaging	Het
Galnt10	T	G	11: 57,656,573 (GRCm39)		probably null	Het
Gm5592	A	T	7: 40,867,635 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,037,330 (GRCm39)		noncoding transcript	Het
Gm7935	A	T	15: 73,952,963 (GRCm39)		noncoding transcript	Het
Grb14	C	T	2: 64,747,653 (GRCm39)	V369I	probably benign	Het
Gstm5	G	A	3: 107,805,782 (GRCm39)	A198T	probably damaging	Het
Herc2	T	A	7: 55,832,448 (GRCm39)	V3048D	probably damaging	Het
Htra4	T	G	8: 25,523,585 (GRCm39)	I327L	possibly damaging	Het
Ifi209	T	C	1: 173,464,873 (GRCm39)	M1T	probably null	Het
Ints6	T	C	14: 62,981,384 (GRCm39)	T135A	probably damaging	Het
Itpr1	T	A	6: 108,496,385 (GRCm39)	I2604N	probably damaging	Het
Krt6a	T	A	15: 101,600,993 (GRCm39)	M268L	probably benign	Het
Lrp1b	G	T	2: 40,894,625 (GRCm39)	S2201*	probably null	Het
Lrp2	T	C	2: 69,289,904 (GRCm39)	N3645S	probably benign	Het
Lrrc15	A	T	16: 30,091,722 (GRCm39)	I539N	possibly damaging	Het
Map3k6	T	C	4: 132,974,992 (GRCm39)	I675T	probably damaging	Het
Map3k9	T	A	12: 81,768,826 (GRCm39)	E1074V	probably damaging	Het
Med13l	T	A	5: 118,862,075 (GRCm39)	S339R	probably benign	Het
Mrps18a	T	C	17: 46,436,552 (GRCm39)		probably benign	Het
Mtcl2	T	C	2: 156,882,654 (GRCm39)	E466G	probably damaging	Het
Nat8f2	G	T	6: 85,844,854 (GRCm39)	Y169*	probably null	Het
Nlrp1b	A	G	11: 71,072,625 (GRCm39)	I406T	probably benign	Het
Npc1l1	A	G	11: 6,167,705 (GRCm39)		probably null	Het
Or10z1	A	G	1: 174,078,007 (GRCm39)	V162A	probably damaging	Het
Or5ac20	A	T	16: 59,104,743 (GRCm39)	M39K	probably damaging	Het
Ostf1	C	T	19: 18,558,689 (GRCm39)	G198E	probably benign	Het
Pcsk5	A	G	19: 17,558,619 (GRCm39)	V596A	probably damaging	Het
Pde4c	T	C	8: 71,202,754 (GRCm39)	*647Q	probably null	Het
Pkm	A	T	9: 59,577,917 (GRCm39)	I245F	probably damaging	Het
Prss3b	T	A	6: 41,009,940 (GRCm39)	R131S	probably benign	Het
Ptprj	T	C	2: 90,299,985 (GRCm39)	H179R	probably benign	Het
Rapgef2	A	T	3: 78,976,739 (GRCm39)	S1356T	probably benign	Het
Rbm45	T	A	2: 76,200,594 (GRCm39)	L41Q	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scel	A	T	14: 103,823,929 (GRCm39)	I386F	probably benign	Het
Serpinb5	A	T	1: 106,809,487 (GRCm39)	N298Y	possibly damaging	Het
Slc24a2	C	T	4: 86,909,625 (GRCm39)	V698I	probably damaging	Het
Slc43a3	A	T	2: 84,788,067 (GRCm39)	H483L	probably damaging	Het
Snrnp35	A	G	5: 124,628,262 (GRCm39)	D25G	probably benign	Het
Snrnp40	T	C	4: 130,256,439 (GRCm39)	S55P	probably damaging	Het
Snx9	T	A	17: 5,970,855 (GRCm39)	C399S	probably damaging	Het
Ttbk2	T	C	2: 120,655,743 (GRCm39)		probably benign	Het
Vmn1r1	A	G	1: 181,985,341 (GRCm39)	V108A	possibly damaging	Het
Vmn1r201	T	A	13: 22,659,672 (GRCm39)	N295K	probably benign	Het
Zfp292	G	A	4: 34,807,491 (GRCm39)	P1851L	possibly damaging	Het
Zfp472	A	T	17: 33,196,717 (GRCm39)	D264V	probably damaging	Het

Other mutations in Sirt3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Sirt3	APN	7	140,444,006 (GRCm39)	splice site	probably benign
IGL03100:Sirt3	APN	7	140,445,030 (GRCm39)	missense	probably damaging	1.00
R0478:Sirt3	UTSW	7	140,458,027 (GRCm39)	missense
R0549:Sirt3	UTSW	7	140,449,400 (GRCm39)	critical splice donor site	probably null
R1101:Sirt3	UTSW	7	140,449,541 (GRCm39)	missense	possibly damaging	0.94
R3983:Sirt3	UTSW	7	140,458,025 (GRCm39)	nonsense	probably null
R4461:Sirt3	UTSW	7	140,444,913 (GRCm39)	missense	possibly damaging	0.74
R5452:Sirt3	UTSW	7	140,444,928 (GRCm39)	missense	probably damaging	1.00
R7313:Sirt3	UTSW	7	140,458,039 (GRCm39)	missense
R7755:Sirt3	UTSW	7	140,457,963 (GRCm39)	missense
R8260:Sirt3	UTSW	7	140,456,319 (GRCm39)	missense
R8702:Sirt3	UTSW	7	140,458,027 (GRCm39)	missense
R9117:Sirt3	UTSW	7	140,449,362 (GRCm39)	intron	probably benign
Z1176:Sirt3	UTSW	7	140,461,757 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GTGCTCTTCATCCCATAGTACAGC -3'
(R):5'- TTCTGATTCCCCAGGCTGATG -3'

Sequencing Primer
(F):5'- ATAGTACAGCTCTGTGCCGAGATC -3'
(R):5'- ATTCCCCAGGCTGATGTGATG -3'

Posted On

2016-09-06