Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03100:Sirt3'

418701

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sirt3

Ensembl Gene

ENSMUSG00000025486

Gene Name

sirtuin 3

Synonyms

Sir2l3, 2310003L23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03100

Quality Score

Status

Chromosome

Chromosomal Location

140443579-140462222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140445030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 256 (D256G)

Ref Sequence

ENSEMBL: ENSMUSP00000147716 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000026559
AA Change: D204G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000026559
Gene: ENSMUSG00000025486
AA Change: D204G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106048
AA Change: D204G

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000101663
Gene: ENSMUSG00000025486
AA Change: D204G

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

possibly damaging
Transcript: ENSMUST00000137024
AA Change: D150G

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114247
Gene: ENSMUSG00000025486
AA Change: D150G

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

probably damaging
Transcript: ENSMUST00000211179
AA Change: D256G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152212

Predicted Effect

probably benign
Transcript: ENSMUST00000209766

Predicted Effect

probably benign
Transcript: ENSMUST00000210708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210601

Predicted Effect

probably benign
Transcript: ENSMUST00000210296

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,208,527 (GRCm39)	R233S	probably benign	Het
Abcc9	A	T	6: 142,640,270 (GRCm39)	W73R	probably damaging	Het
Ago1	A	G	4: 126,336,964 (GRCm39)	V247A	probably benign	Het
Anpep	T	A	7: 79,486,109 (GRCm39)	T538S	probably benign	Het
Asb14	A	G	14: 26,625,329 (GRCm39)	K228R	probably benign	Het
Atp6v0d2	C	T	4: 19,910,586 (GRCm39)		probably null	Het
B3gat2	A	T	1: 23,802,272 (GRCm39)	D186V	probably damaging	Het
Bmpr1a	A	T	14: 34,163,164 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,732,175 (GRCm39)	D224G	probably damaging	Het
Cd6	T	C	19: 10,770,303 (GRCm39)	M463V	probably benign	Het
Clasp1	T	C	1: 118,395,626 (GRCm39)	I188T	possibly damaging	Het
Cldn17	G	T	16: 88,303,489 (GRCm39)	A80E	probably damaging	Het
Clptm1l	A	G	13: 73,760,509 (GRCm39)		probably benign	Het
Col6a5	A	T	9: 105,814,512 (GRCm39)	V500E	unknown	Het
Ctdspl2	C	T	2: 121,809,394 (GRCm39)	T115I	probably benign	Het
Dbh	G	T	2: 27,055,534 (GRCm39)	A3S	probably benign	Het
Fgd4	A	G	16: 16,295,383 (GRCm39)		probably benign	Het
Gm4952	T	A	19: 12,602,083 (GRCm39)		probably null	Het
Grik4	A	G	9: 42,461,751 (GRCm39)	M551T	probably damaging	Het
Hecw2	T	C	1: 53,870,815 (GRCm39)	I1389V	probably damaging	Het
Hkdc1	T	C	10: 62,253,608 (GRCm39)	T58A	probably benign	Het
Kcnh2	T	C	5: 24,527,682 (GRCm39)	K890R	probably damaging	Het
Kif24	T	C	4: 41,394,446 (GRCm39)	H809R	possibly damaging	Het
Knl1	A	G	2: 118,931,251 (GRCm39)	E1989G	probably damaging	Het
Muc15	A	G	2: 110,561,939 (GRCm39)	D125G	probably damaging	Het
Ogdhl	A	T	14: 32,064,029 (GRCm39)	M632L	probably benign	Het
Prkdc	T	C	16: 15,531,499 (GRCm39)	I1374T	probably benign	Het
Psmd1	T	A	1: 86,046,243 (GRCm39)	N670K	possibly damaging	Het
Ryr1	T	C	7: 28,804,018 (GRCm39)	H590R	probably damaging	Het
Scara3	A	C	14: 66,168,722 (GRCm39)	H298Q	probably damaging	Het
Slc13a2	T	C	11: 78,295,299 (GRCm39)	Q158R	probably damaging	Het
Slco5a1	T	A	1: 12,949,504 (GRCm39)	T629S	possibly damaging	Het
Speer4f2	A	G	5: 17,581,528 (GRCm39)	K157E	probably damaging	Het
Srsf1	T	A	11: 87,939,954 (GRCm39)	D155E	probably damaging	Het
Tln2	C	T	9: 67,203,019 (GRCm39)	R534H	probably damaging	Het
Ttn	A	G	2: 76,591,992 (GRCm39)		probably benign	Het
Ube2m	A	G	7: 12,771,562 (GRCm39)	L32P	probably benign	Het
Wdr24	T	A	17: 26,044,681 (GRCm39)	F179I	possibly damaging	Het
Zfp961	T	C	8: 72,721,754 (GRCm39)	*69Q	probably null	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
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
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

Posted On

2016-08-02