Mutagenetix > Incidental Mutation

Incidental Mutation 'R0743:Sirt4'

70771

Institutional Source

Beutler Lab

Gene Symbol

Sirt4

Ensembl Gene

ENSMUSG00000029524

Gene Name

sirtuin 4

Synonyms

4930596O17Rik

MMRRC Submission

038924-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0743 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115616069-115622784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115621014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 53 (K53E)

Ref Sequence

ENSEMBL: ENSMUSP00000107698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112066] [ENSMUST00000112067]

AlphaFold

Q8R216

Predicted Effect

probably benign
Transcript: ENSMUST00000112066
AA Change: K53E

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107697
Gene: ENSMUSG00000029524
AA Change: K53E

Domain	Start	End	E-Value	Type
Pfam:SIR2	59	264	1.2e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112067
AA Change: K53E

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000107698
Gene: ENSMUSG00000029524
AA Change: K53E

Domain	Start	End	E-Value	Type
Pfam:SIR2	59	264	3.7e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154729

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.7%
20x: 92.7%

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 IV of the sirtuin family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display no apparent phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,700 (GRCm39)	I844N	possibly damaging	Het
Bend7	A	T	2: 4,749,055 (GRCm39)	K57N	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cfap91	A	G	16: 38,155,996 (GRCm39)	F76L	probably damaging	Het
Csmd2	A	T	4: 128,007,469 (GRCm39)	T149S	probably benign	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dennd2b	A	G	7: 109,156,552 (GRCm39)	L66P	probably damaging	Het
Dnase1l2	A	G	17: 24,660,854 (GRCm39)	V170A	possibly damaging	Het
Dnm2	T	A	9: 21,411,561 (GRCm39)	Y597N	probably damaging	Het
Epsti1	A	T	14: 78,168,715 (GRCm39)	R117S	probably damaging	Het
Gabarapl2	A	T	8: 112,669,137 (GRCm39)	I32F	probably damaging	Het
Glrb	T	A	3: 80,786,987 (GRCm39)	I59F	probably damaging	Het
Gosr1	A	G	11: 76,620,972 (GRCm39)	I239T	probably benign	Het
Kif5b	G	T	18: 6,209,192 (GRCm39)	R857S	probably damaging	Het
Kmt5a	C	A	5: 124,585,282 (GRCm39)	N44K	probably damaging	Het
Ksr1	A	T	11: 78,912,329 (GRCm39)	H675Q	possibly damaging	Het
Mep1b	A	G	18: 21,213,515 (GRCm39)	D68G	possibly damaging	Het
Nebl	A	C	2: 17,415,929 (GRCm39)	S327A	probably benign	Het
Nfat5	G	A	8: 108,094,698 (GRCm39)	E962K	probably damaging	Het
Nfatc4	A	C	14: 56,064,101 (GRCm39)	D126A	probably damaging	Het
Nmt2	A	T	2: 3,315,822 (GRCm39)	R271*	probably null	Het
Nol7	G	A	13: 43,554,091 (GRCm39)	V133I	probably benign	Het
Npepps	A	G	11: 97,096,884 (GRCm39)		probably benign	Het
Nphp3	GCATCATCATCATCATC	GCATCATCATCATC	9: 103,899,967 (GRCm39)		probably benign	Het
Or1e1c	A	T	11: 73,265,715 (GRCm39)	I47F	probably benign	Het
Or51ag1	C	T	7: 103,156,069 (GRCm39)	W28*	probably null	Het
Or6c66	T	A	10: 129,461,712 (GRCm39)	T73S	probably benign	Het
Or8h10	G	A	2: 86,808,843 (GRCm39)	T99I	probably benign	Het
Ovgp1	T	A	3: 105,882,248 (GRCm39)	L37H	probably damaging	Het
Padi3	G	T	4: 140,513,740 (GRCm39)	A646D	probably benign	Het
Pamr1	A	G	2: 102,440,252 (GRCm39)	E142G	probably damaging	Het
Papolg	A	T	11: 23,820,818 (GRCm39)		probably null	Het
Pate8	T	C	9: 36,492,597 (GRCm39)	S103G	probably benign	Het
Pfkl	C	T	10: 77,831,077 (GRCm39)		probably null	Het
Plrg1	T	C	3: 82,967,224 (GRCm39)	S132P	probably benign	Het
Pramel23	A	T	4: 143,425,134 (GRCm39)	I103N	probably damaging	Het
Prr14l	C	A	5: 32,988,538 (GRCm39)	C319F	possibly damaging	Het
Prtn3	T	A	10: 79,715,511 (GRCm39)	M1K	probably null	Het
Ptpn22	T	C	3: 103,809,487 (GRCm39)	F700S	probably damaging	Het
Ptprz1	C	T	6: 23,044,366 (GRCm39)	Q1273*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,569,415 (GRCm39)	D4963G	probably damaging	Het
Sec16a	G	A	2: 26,309,734 (GRCm39)	L2091F	possibly damaging	Het
Senp6	C	T	9: 80,000,871 (GRCm39)	R27C	probably damaging	Het
Shcbp1	T	A	8: 4,814,906 (GRCm39)	M191L	probably benign	Het
Slc10a2	A	G	8: 5,139,132 (GRCm39)	S271P	probably damaging	Het
Slc35b2	T	A	17: 45,877,751 (GRCm39)	F293I	probably damaging	Het
Slc38a10	C	T	11: 120,031,469 (GRCm39)	V103M	probably damaging	Het
Stab2	T	A	10: 86,723,759 (GRCm39)	I1479F	probably damaging	Het
Synpo2	A	G	3: 122,906,355 (GRCm39)	V987A	probably benign	Het
Syt9	A	G	7: 107,035,768 (GRCm39)	I262V	probably damaging	Het
Taf2	GCTTCTTCTTCTTCTTCTT	GCTTCTTCTTCTTCTT	15: 54,879,857 (GRCm39)		probably benign	Het
Tmem39a	A	T	16: 38,405,764 (GRCm39)	I200F	probably damaging	Het
Ttn	G	A	2: 76,579,613 (GRCm39)	T23760M	probably damaging	Het
Uqcrc1	C	T	9: 108,773,773 (GRCm39)	Q22*	probably null	Het
Wdtc1	A	G	4: 133,027,972 (GRCm39)	W377R	probably damaging	Het
Zfp454	A	G	11: 50,764,764 (GRCm39)	S223P	probably benign	Het

Other mutations in Sirt4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00844:Sirt4	APN	5	115,617,685 (GRCm39)	splice site	probably null
IGL02475:Sirt4	APN	5	115,621,055 (GRCm39)	missense	probably benign	0.00
IGL03198:Sirt4	APN	5	115,621,061 (GRCm39)	missense	probably benign
R2136:Sirt4	UTSW	5	115,617,760 (GRCm39)	missense	probably benign	0.35
R3792:Sirt4	UTSW	5	115,618,351 (GRCm39)	missense	probably benign	0.33
R3793:Sirt4	UTSW	5	115,618,351 (GRCm39)	missense	probably benign	0.33
R4791:Sirt4	UTSW	5	115,618,373 (GRCm39)	missense	possibly damaging	0.52
R4810:Sirt4	UTSW	5	115,618,508 (GRCm39)	missense	probably damaging	0.99
R4818:Sirt4	UTSW	5	115,617,785 (GRCm39)	missense	possibly damaging	0.92
R4983:Sirt4	UTSW	5	115,620,850 (GRCm39)	missense	probably benign	0.06
R5726:Sirt4	UTSW	5	115,617,705 (GRCm39)	missense	probably benign	0.00
R6402:Sirt4	UTSW	5	115,618,370 (GRCm39)	missense	probably damaging	1.00
R7238:Sirt4	UTSW	5	115,621,049 (GRCm39)	missense	possibly damaging	0.76
R7799:Sirt4	UTSW	5	115,617,805 (GRCm39)	missense	probably benign	0.13
R8171:Sirt4	UTSW	5	115,621,082 (GRCm39)	missense	probably damaging	1.00
R8865:Sirt4	UTSW	5	115,620,704 (GRCm39)	missense	probably damaging	1.00
R9226:Sirt4	UTSW	5	115,618,372 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTCACCAACCAGTGCAGCTTC -3'
(R):5'- TGACTTTCAGGCCGACAAAGGG -3'

Sequencing Primer
(F):5'- TTGCTCAGAGCCCAGTGTG -3'
(R):5'- CAAAGGGCCGTTGGATCAC -3'

Posted On

2013-09-30