Mutagenetix > Incidental Mutation

Incidental Mutation 'R4461:Sirt3'

330150

Institutional Source

Beutler Lab

Gene Symbol

Sirt3

Ensembl Gene

ENSMUSG00000025486

Gene Name

sirtuin 3

Synonyms

Sir2l3, 2310003L23Rik

MMRRC Submission

041720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4461 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140443579-140462222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140444913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 295 (D295G)

Ref Sequence

ENSEMBL: ENSMUSP00000147716 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026558] [ENSMUST00000026559] [ENSMUST00000106048] [ENSMUST00000137024] [ENSMUST00000147331] [ENSMUST00000211179] [ENSMUST00000210296] [ENSMUST00000209766] [ENSMUST00000210708]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000026558

SMART Domains

Protein: ENSMUSP00000026558
Gene: ENSMUSG00000025485

Domain	Start	End	E-Value	Type
Pfam:Ric8	66	505	2.3e-125	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026559
AA Change: D243G

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026559
Gene: ENSMUSG00000025486
AA Change: D243G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106048
AA Change: D243G

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101663
Gene: ENSMUSG00000025486
AA Change: D243G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131850

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

probably benign
Transcript: ENSMUST00000147331

SMART Domains

Protein: ENSMUSP00000121151
Gene: ENSMUSG00000025486

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

possibly damaging
Transcript: ENSMUST00000211179
AA Change: D295G

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210601

Predicted Effect

probably benign
Transcript: ENSMUST00000210296

Predicted Effect

probably benign
Transcript: ENSMUST00000209766

Predicted Effect

probably benign
Transcript: ENSMUST00000210708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152212

Meta Mutation Damage Score

0.1737

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (50/50)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	T	C	17: 66,292,932 (GRCm39)		probably null	Het
Apex1	T	C	14: 51,163,970 (GRCm39)	V165A	probably damaging	Het
Btbd17	C	T	11: 114,684,815 (GRCm39)	D75N	possibly damaging	Het
Chd2	T	C	7: 73,190,622 (GRCm39)		probably benign	Het
Coq10a	T	C	10: 128,200,347 (GRCm39)	N138S	possibly damaging	Het
Ctbp1	A	T	5: 33,408,357 (GRCm39)	Y192N	probably damaging	Het
Cx3cl1	A	G	8: 95,507,184 (GRCm39)	*396W	probably null	Het
D6Ertd527e	T	C	6: 87,088,299 (GRCm39)	I154T	unknown	Het
Dao	T	A	5: 114,157,987 (GRCm39)	V203E	probably damaging	Het
Egr4	G	A	6: 85,489,322 (GRCm39)	A246V	probably damaging	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
H2-Eb2	T	A	17: 34,552,497 (GRCm39)	V114E	possibly damaging	Het
Hpgds	A	G	6: 65,100,618 (GRCm39)	L120P	probably damaging	Het
Ikbke	C	T	1: 131,193,659 (GRCm39)	V464I	probably benign	Het
Kank2	G	A	9: 21,706,041 (GRCm39)	Q326*	probably null	Het
Klhl26	T	C	8: 70,904,194 (GRCm39)	Y538C	probably damaging	Het
Klkb1	A	G	8: 45,726,612 (GRCm39)	S464P	probably damaging	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Kmt2c	A	G	5: 25,504,874 (GRCm39)	V3478A	probably benign	Het
Knl1	A	C	2: 118,890,080 (GRCm39)	N44T	probably benign	Het
Letm2	A	G	8: 26,076,715 (GRCm39)	C296R	probably damaging	Het
Lrrc37a	A	G	11: 103,355,180 (GRCm39)		probably null	Het
Med20	T	C	17: 47,929,842 (GRCm39)	V93A	probably benign	Het
Mtmr11	T	C	3: 96,075,207 (GRCm39)		probably benign	Het
Muc1	A	T	3: 89,138,870 (GRCm39)	D493V	probably damaging	Het
Nek2	C	T	1: 191,554,827 (GRCm39)	P180S	probably damaging	Het
Nin	A	T	12: 70,089,359 (GRCm39)	M1352K	probably benign	Het
Or5aq1	T	C	2: 86,966,005 (GRCm39)	H220R	probably benign	Het
P3h3	A	T	6: 124,822,531 (GRCm39)	S547T	probably benign	Het
Pik3c2g	C	T	6: 139,787,407 (GRCm39)		probably benign	Het
Pkd1l3	A	G	8: 110,359,345 (GRCm39)		probably null	Het
Pzp	T	C	6: 128,501,003 (GRCm39)	I118M	probably benign	Het
Rps6ka5	C	A	12: 100,537,123 (GRCm39)	D536Y	probably damaging	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Siglece	T	C	7: 43,300,929 (GRCm39)	Q462R	probably benign	Het
Snph	G	A	2: 151,435,767 (GRCm39)	S318L	probably benign	Het
Snx18	T	C	13: 113,753,731 (GRCm39)	T401A	probably damaging	Het
Tefm	A	G	11: 80,028,875 (GRCm39)		probably null	Het
Thada	T	C	17: 84,733,665 (GRCm39)	Y994C	probably damaging	Het
Trmt1	A	G	8: 85,425,778 (GRCm39)	N531D	probably benign	Het
Ttc17	A	G	2: 94,196,916 (GRCm39)	V477A	probably benign	Het
Ubxn10	T	A	4: 138,448,187 (GRCm39)	Q163L	probably benign	Het
Ulk4	A	T	9: 120,985,950 (GRCm39)	I908N	possibly damaging	Het
Zfp747l1	A	G	7: 126,983,917 (GRCm39)	L395P	probably damaging	Het
Zscan12	C	T	13: 21,550,789 (GRCm39)	S136L	possibly 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
R5369:Sirt3	UTSW	7	140,449,406 (GRCm39)	missense	probably damaging	1.00
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'- AGAACCATGTCCCAGCAGAG -3'
(R):5'- CTGATGTGCATGGTCACACTG -3'

Sequencing Primer
(F):5'- CAGAGAGCTGTAGAGTAGGAAGC -3'
(R):5'- TGGAGCCTTTTGCCAGC -3'

Posted On

2015-07-21