Mutagenetix > Incidental Mutation

Incidental Mutation 'R3552:Sirt5'

269015

Institutional Source

Beutler Lab

Gene Symbol

Sirt5

Ensembl Gene

ENSMUSG00000054021

Gene Name

sirtuin 5

Synonyms

0610012J09Rik, 1500032M05Rik

MMRRC Submission

040669-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43518972-43548679 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43536643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 226 (N226Y)

Ref Sequence

ENSEMBL: ENSMUSP00000152526 (fasta)

Gene Model

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

AlphaFold

Q8K2C6

Predicted Effect

probably damaging
Transcript: ENSMUST00000066804
AA Change: N226Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071048
Gene: ENSMUSG00000054021
AA Change: N226Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000220576
AA Change: N226Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000220645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220874

Predicted Effect

probably damaging
Transcript: ENSMUST00000221481
AA Change: N226Y

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221515
AA Change: N226Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221955

Predicted Effect

probably damaging
Transcript: ENSMUST00000223194
AA Change: N226Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

unknown
Transcript: ENSMUST00000222106
AA Change: N67Y

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222489

Meta Mutation Damage Score

0.1546

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,152,450 (GRCm39)	Y866N	probably damaging	Het
Agk	A	G	6: 40,371,615 (GRCm39)	T371A	probably benign	Het
Akna	T	C	4: 63,316,361 (GRCm39)	M1V	probably null	Het
Aldh7a1	T	C	18: 56,683,364 (GRCm39)		probably null	Het
Ankrd26	A	T	6: 118,484,737 (GRCm39)	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,129,584 (GRCm39)	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,167,598 (GRCm39)	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,744,859 (GRCm39)	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,335,620 (GRCm39)	S173G	probably benign	Het
Chrm2	A	T	6: 36,500,745 (GRCm39)	I201F	probably damaging	Het
Col16a1	A	G	4: 129,970,834 (GRCm39)	T618A	probably benign	Het
Dele1	A	G	18: 38,391,418 (GRCm39)		probably benign	Het
Dock2	T	C	11: 34,611,787 (GRCm39)	Y192C	probably benign	Het
Ep400	T	A	5: 110,877,153 (GRCm39)	E821V	unknown	Het
Esrrg	G	A	1: 187,882,387 (GRCm39)	V215I	probably benign	Het
Evx1	A	T	6: 52,293,908 (GRCm39)	S359C	probably damaging	Het
Fcrl2	A	G	3: 87,166,717 (GRCm39)	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,948,110 (GRCm39)	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,179,613 (GRCm39)		probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hrc	G	C	7: 44,985,757 (GRCm39)	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 191,921,074 (GRCm39)	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,614,584 (GRCm39)	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,271,724 (GRCm39)	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,460,306 (GRCm39)	W311R	probably damaging	Het
Megf11	A	G	9: 64,602,745 (GRCm39)	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,415,072 (GRCm39)	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,421,442 (GRCm39)	S4311G	probably benign	Het
Myo15a	C	T	11: 60,400,489 (GRCm39)	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,801,161 (GRCm39)	K1140M	probably damaging	Het
Oc90	T	C	15: 65,750,650 (GRCm39)	Q365R	possibly damaging	Het
Oplah	C	T	15: 76,186,294 (GRCm39)	D734N	possibly damaging	Het
Or1e19	T	C	11: 73,316,678 (GRCm39)	I44V	probably benign	Het
Or4c58	A	C	2: 89,674,687 (GRCm39)	M210R	possibly damaging	Het
Or9g3	T	C	2: 85,590,237 (GRCm39)	N161S	possibly damaging	Het
Pbx1	G	A	1: 167,986,362 (GRCm39)	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,841,270 (GRCm39)	R330L	probably benign	Het
Phox2b	C	A	5: 67,254,999 (GRCm39)	R150L	probably damaging	Het
Plscr2	A	G	9: 92,172,848 (GRCm39)	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,852,497 (GRCm39)	Q518L	probably benign	Het
Rbl1	A	T	2: 157,037,505 (GRCm39)	I214K	probably benign	Het
Ryr1	T	A	7: 28,756,422 (GRCm39)	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,582,132 (GRCm39)	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,963,470 (GRCm39)	Y615C	probably benign	Het
Slc30a3	G	A	5: 31,252,422 (GRCm39)		probably benign	Het
Slc5a4b	A	G	10: 75,917,358 (GRCm39)	V226A	probably damaging	Het
Slf2	C	A	19: 44,923,390 (GRCm39)	S68*	probably null	Het
Smyd5	G	A	6: 85,419,193 (GRCm39)	E292K	probably damaging	Het
Spns1	A	G	7: 125,969,543 (GRCm39)	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141 (GRCm39)	Q173L	unknown	Het
Ssrp1	C	A	2: 84,874,736 (GRCm39)	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,287,705 (GRCm39)	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,764,448 (GRCm39)	L650W	probably damaging	Het
Tnxb	A	T	17: 34,937,695 (GRCm39)	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,516,579 (GRCm39)		probably benign	Het
Trpm7	T	A	2: 126,668,630 (GRCm39)		probably benign	Het
Usp39	G	A	6: 72,314,815 (GRCm39)	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,753,477 (GRCm39)	H213R	possibly damaging	Het
Washc2	A	G	6: 116,197,529 (GRCm39)	D168G	probably damaging	Het
Washc4	A	G	10: 83,382,720 (GRCm39)	I45V	probably benign	Het
Zfp352	A	G	4: 90,113,339 (GRCm39)	E493G	probably benign	Het
Zfp692	C	T	11: 58,200,254 (GRCm39)	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,602,067 (GRCm39)	S337*	probably null	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
R1024: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
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

PCR Primer
(F):5'- TAGAGAAGAGTCACCTCAGTGG -3'
(R):5'- TTTCTCCAGGACACTACAGACTTC -3'

Sequencing Primer
(F):5'- ACCTCAGTGGCCCCATC -3'
(R):5'- CTACACATGTATTTTAGAGAGGGAGG -3'

Posted On

2015-02-19