Mutagenetix > Incidental Mutation

Incidental Mutation 'R1024:Sirt5'

94789

Institutional Source

Beutler Lab

Gene Symbol

Sirt5

Ensembl Gene

ENSMUSG00000054021

Gene Name

sirtuin 5

Synonyms

0610012J09Rik, 1500032M05Rik

MMRRC Submission

039126-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1024 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

43518972-43548679 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43524245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 6 (I6V)

Ref Sequence

ENSEMBL: ENSMUSP00000152760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066804] [ENSMUST00000220458] [ENSMUST00000220576] [ENSMUST00000220645] [ENSMUST00000221481] [ENSMUST00000221515] [ENSMUST00000223194]

AlphaFold

Q8K2C6

Predicted Effect

probably benign
Transcript: ENSMUST00000066804
AA Change: I6V

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

SMART Domains

Protein: ENSMUSP00000071048
Gene: ENSMUSG00000054021
AA Change: I6V

Domain	Start	End	E-Value	Type
Pfam:SIR2	58	256	5.3e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220458
AA Change: I6V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000220576
AA Change: I6V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000220645
AA Change: I6V

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220874

Predicted Effect

probably benign
Transcript: ENSMUST00000221481
AA Change: I6V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000221515
AA Change: I6V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000223194
AA Change: I6V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221955

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222489

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.6%
20x: 90.2%

Validation Efficiency

90% (36/40)

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 III of the sirtuin family. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly healthy and do not exhibit globally increased mitochondrial protein acetylation levels relative to wild-type controls. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,327,157 (GRCm39)	S719P	probably damaging	Het
Atxn2l	A	T	7: 126,096,466 (GRCm39)	N425K	probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Cacna2d2	T	C	9: 107,404,249 (GRCm39)		probably null	Het
Ccar2	A	G	14: 70,377,964 (GRCm39)	S674P	probably damaging	Het
Ccm2	T	A	11: 6,520,119 (GRCm39)	Y56*	probably null	Het
Cdc14b	A	T	13: 64,363,490 (GRCm39)	V257E	probably damaging	Het
Cdca8	A	C	4: 124,815,798 (GRCm39)	S171R	probably benign	Het
Cep192	C	T	18: 67,971,125 (GRCm39)	T1042I	probably benign	Het
Cfap100	T	A	6: 90,389,986 (GRCm39)	T101S	possibly damaging	Het
Cfap46	T	A	7: 139,222,513 (GRCm39)	M1155L	probably benign	Het
Cyp3a13	T	A	5: 137,892,626 (GRCm39)	I473F	possibly damaging	Het
Dclk3	A	G	9: 111,298,138 (GRCm39)	I561V	possibly damaging	Het
Dock6	A	T	9: 21,744,908 (GRCm39)	L556H	probably damaging	Het
Dqx1	G	A	6: 83,038,070 (GRCm39)	C486Y	probably damaging	Het
Drd1	T	A	13: 54,207,333 (GRCm39)	M294L	probably benign	Het
Dsel	A	G	1: 111,788,403 (GRCm39)	S711P	probably damaging	Het
Fcho2	A	T	13: 98,869,167 (GRCm39)	I568N	probably damaging	Het
Folr1	A	G	7: 101,507,810 (GRCm39)	M210T	probably damaging	Het
Gatc	T	A	5: 115,478,904 (GRCm39)		probably null	Het
Gja8	A	T	3: 96,826,740 (GRCm39)	F307L	probably benign	Het
H1f7	G	A	15: 98,154,636 (GRCm39)	T171I	unknown	Het
Hnrnpd	C	A	5: 100,114,016 (GRCm39)	*87L	probably null	Het
Hpd	C	T	5: 123,312,532 (GRCm39)	R279H	possibly damaging	Het
Igfals	G	A	17: 25,099,457 (GRCm39)	V183M	probably damaging	Het
Izumo1	A	G	7: 45,276,598 (GRCm39)	Y387C	probably benign	Het
Kdm5a	A	G	6: 120,375,999 (GRCm39)	N585S	probably null	Het
Marchf2	C	A	17: 33,928,762 (GRCm39)	G45C	probably damaging	Het
Myo15a	A	T	11: 60,370,442 (GRCm39)	R1067S	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nell1	A	G	7: 49,770,411 (GRCm39)	S157G	probably damaging	Het
Nf1	A	T	11: 79,437,859 (GRCm39)	E2072D	probably damaging	Het
Nipal1	CGGG	CGG	5: 72,825,334 (GRCm39)		probably null	Het
Nop2	T	A	6: 125,114,149 (GRCm39)	V205E	probably benign	Het
Nphs1	G	T	7: 30,173,702 (GRCm39)	S939I	probably damaging	Het
Nudt8	T	A	19: 4,051,925 (GRCm39)	W179R	probably damaging	Het
Nutm1	A	T	2: 112,080,274 (GRCm39)	I547N	probably benign	Het
Oog2	A	C	4: 143,922,856 (GRCm39)	T374P	probably damaging	Het
Or4k5	A	T	14: 50,385,384 (GRCm39)	F316I	probably benign	Het
Or8b54	C	A	9: 38,686,631 (GRCm39)	L27I	probably damaging	Het
Otud4	T	A	8: 80,390,722 (GRCm39)	M413K	probably benign	Het
Pear1	A	G	3: 87,667,606 (GRCm39)		probably benign	Het
Pla2g3	G	A	11: 3,438,551 (GRCm39)	C67Y	probably damaging	Het
Plxdc2	A	G	2: 16,716,917 (GRCm39)	T334A	probably benign	Het
Ppl	G	A	16: 4,917,864 (GRCm39)	R543W	probably damaging	Het
Prl5a1	G	A	13: 28,333,880 (GRCm39)	V128I	probably damaging	Het
Pth1r	A	T	9: 110,571,295 (GRCm39)	L25Q	probably damaging	Het
Pth1r	T	C	9: 110,558,689 (GRCm39)	D96G	probably benign	Het
Rfpl4	G	T	7: 5,113,517 (GRCm39)	D215E	probably damaging	Het
Rnf146	T	A	10: 29,223,092 (GRCm39)	R265*	probably null	Het
Rpe65	T	C	3: 159,312,122 (GRCm39)	I207T	probably benign	Het
Rptn	A	G	3: 93,305,532 (GRCm39)	E955G	possibly damaging	Het
Rwdd2b	A	T	16: 87,233,738 (GRCm39)	C121S	probably damaging	Het
Scn10a	A	G	9: 119,438,340 (GRCm39)	I1843T	probably damaging	Het
Slc25a36	A	G	9: 96,961,254 (GRCm39)	Y261H	probably damaging	Het
Slc5a3	G	A	16: 91,874,383 (GRCm39)	A147T	probably damaging	Het
Stk39	T	C	2: 68,240,390 (GRCm39)	S114G	probably damaging	Het
Stxbp1	T	C	2: 32,704,979 (GRCm39)		probably null	Het
Syt3	G	T	7: 44,040,106 (GRCm39)	G113V	probably damaging	Het
Tatdn2	A	G	6: 113,686,506 (GRCm39)	T644A	probably damaging	Het
Trim9	T	A	12: 70,298,791 (GRCm39)		probably null	Het
Tut1	A	G	19: 8,936,719 (GRCm39)	N181S	probably benign	Het
Vill	T	C	9: 118,895,892 (GRCm39)	S151P	probably damaging	Het
Vmn2r90	A	T	17: 17,948,400 (GRCm39)	I549F	probably damaging	Het
Wdfy4	T	C	14: 32,801,923 (GRCm39)	T1912A	possibly damaging	Het

Other mutations in Sirt5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02321:Sirt5	APN	13	43,533,164 (GRCm39)	missense	probably damaging	1.00
R0584:Sirt5	UTSW	13	43,548,204 (GRCm39)	splice site	probably null
R0697:Sirt5	UTSW	13	43,539,052 (GRCm39)	missense	probably damaging	1.00
R1022:Sirt5	UTSW	13	43,524,245 (GRCm39)	missense	probably benign	0.05
R1352:Sirt5	UTSW	13	43,548,283 (GRCm39)	missense	probably damaging	1.00
R1874:Sirt5	UTSW	13	43,524,267 (GRCm39)	missense	possibly damaging	0.92
R3552:Sirt5	UTSW	13	43,536,643 (GRCm39)	missense	probably damaging	1.00
R3778:Sirt5	UTSW	13	43,536,583 (GRCm39)	critical splice acceptor site	probably null
R5591:Sirt5	UTSW	13	43,525,317 (GRCm39)	missense	possibly damaging	0.67
R7188:Sirt5	UTSW	13	43,525,380 (GRCm39)	missense	possibly damaging	0.93
R7788:Sirt5	UTSW	13	43,536,623 (GRCm39)	missense	probably benign	0.43
R8063:Sirt5	UTSW	13	43,524,323 (GRCm39)	missense	probably benign	0.00
R8347:Sirt5	UTSW	13	43,533,977 (GRCm39)	missense	probably benign	0.00
R8859:Sirt5	UTSW	13	43,524,327 (GRCm39)	missense	possibly damaging	0.75
R9339:Sirt5	UTSW	13	43,530,327 (GRCm39)	missense	probably benign	0.03

Predicted Primers

Posted On

2014-01-05