Mutagenetix > Incidental Mutation

Incidental Mutation 'R4818:Sirt4'

369987

Institutional Source

Beutler Lab

Gene Symbol

Sirt4

Ensembl Gene

ENSMUSG00000029524

Gene Name

sirtuin 4

Synonyms

4930596O17Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4818 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115616069-115622784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 115617785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 290 (D290E)

Ref Sequence

ENSEMBL: ENSMUSP00000107698 (fasta)

Gene Model

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

AlphaFold

Q8R216

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112066
AA Change: D290E

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107697
Gene: ENSMUSG00000029524
AA Change: D290E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112067
AA Change: D290E

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107698
Gene: ENSMUSG00000029524
AA Change: D290E

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (73/73)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,571,810 (GRCm39)	E562G	probably benign	Het
5730522E02Rik	A	G	11: 25,720,472 (GRCm39)		probably null	Het
A930033H14Rik	A	T	10: 69,048,190 (GRCm39)		probably benign	Het
Abca17	C	T	17: 24,536,135 (GRCm39)	E511K	probably damaging	Het
Abca9	C	T	11: 110,045,980 (GRCm39)		probably null	Het
Abhd5	T	A	9: 122,192,865 (GRCm39)		probably null	Het
Adra2b	G	A	2: 127,206,012 (GRCm39)	W171*	probably null	Het
Ahcyl	G	A	16: 45,974,555 (GRCm39)	T274I	probably damaging	Het
Aldh1l1	T	C	6: 90,573,897 (GRCm39)	Y799H	probably benign	Het
Arfgef1	A	G	1: 10,286,772 (GRCm39)	V46A	probably benign	Het
Arhgap40	A	G	2: 158,381,639 (GRCm39)	E374G	probably damaging	Het
Arhgef5	G	A	6: 43,250,484 (GRCm39)	V412I	probably benign	Het
Arid3c	T	C	4: 41,730,072 (GRCm39)	E41G	possibly damaging	Het
Atp8b4	T	A	2: 126,164,736 (GRCm39)	K1193N	probably benign	Het
C4a	C	T	17: 35,035,975 (GRCm39)		noncoding transcript	Het
Chst2	C	T	9: 95,287,417 (GRCm39)	D310N	probably damaging	Het
Crtc3	T	C	7: 80,327,170 (GRCm39)	Q52R	possibly damaging	Het
Crybg1	T	C	10: 43,874,583 (GRCm39)	I842V	probably benign	Het
Dennd4c	T	C	4: 86,743,511 (GRCm39)	S1167P	probably benign	Het
Edem3	T	C	1: 151,668,136 (GRCm39)	V305A	possibly damaging	Het
Epha10	T	A	4: 124,780,007 (GRCm39)		probably null	Het
Epha6	C	A	16: 59,474,426 (GRCm39)	R1117L	probably damaging	Het
Fdx2	T	C	9: 20,979,160 (GRCm39)	I144V	possibly damaging	Het
Gm10762	C	T	2: 128,809,106 (GRCm39)	W81*	probably null	Het
Hus1	A	G	11: 8,946,808 (GRCm39)		probably benign	Het
Igbp1b	C	T	6: 138,634,803 (GRCm39)	E214K	probably benign	Het
Inpp5f	A	G	7: 128,286,853 (GRCm39)	I577M	probably damaging	Het
Kansl2	G	A	15: 98,424,542 (GRCm39)	T296I	possibly damaging	Het
Kcna6	A	G	6: 126,715,387 (GRCm39)	F501L	probably benign	Het
Kirrel2	A	T	7: 30,149,293 (GRCm39)	V579D	probably benign	Het
Larp1b	T	C	3: 40,925,005 (GRCm39)	Y208H	probably damaging	Het
Lipf	A	T	19: 33,943,088 (GRCm39)	D132V	probably benign	Het
Lsm12	T	C	11: 102,057,989 (GRCm39)	K40E	probably damaging	Het
Mastl	A	G	2: 23,027,038 (GRCm39)	S275P	probably benign	Het
Mettl25b	C	A	3: 87,832,305 (GRCm39)	R293L	probably benign	Het
Mrpl44	A	G	1: 79,758,694 (GRCm39)	I281V	probably benign	Het
Mtf1	T	A	4: 124,698,505 (GRCm39)	M1K	probably null	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myh2	G	A	11: 67,067,081 (GRCm39)	G179R	probably damaging	Het
Nfasc	T	C	1: 132,531,568 (GRCm39)	T739A	possibly damaging	Het
Nfatc3	G	A	8: 106,835,011 (GRCm39)	V778I	probably benign	Het
Notch4	A	G	17: 34,797,690 (GRCm39)		probably benign	Het
Npm2	T	C	14: 70,889,842 (GRCm39)	N24S	probably benign	Het
Obox7	T	A	7: 14,398,410 (GRCm39)	L108Q	probably damaging	Het
Or51ah3	T	A	7: 103,209,968 (GRCm39)	F95I	probably benign	Het
Pax3	A	G	1: 78,108,869 (GRCm39)	V263A	probably damaging	Het
Pdlim1	C	T	19: 40,211,580 (GRCm39)	V238I	probably damaging	Het
Pik3ip1	G	A	11: 3,280,928 (GRCm39)		probably benign	Het
Ptprq	A	G	10: 107,546,442 (GRCm39)	V284A	possibly damaging	Het
Rad9b	G	A	5: 122,477,839 (GRCm39)	T179I	probably damaging	Het
Skint6	T	A	4: 112,812,589 (GRCm39)		probably benign	Het
Slc18a1	A	C	8: 69,492,951 (GRCm39)	I466S	probably damaging	Het
Slc35e4	C	T	11: 3,862,889 (GRCm39)	R100H	probably benign	Het
Sptbn5	T	G	2: 119,898,449 (GRCm39)	K470Q	probably benign	Het
Tas1r1	C	G	4: 152,117,131 (GRCm39)	V168L	probably benign	Het
Tmem233	T	A	5: 116,221,222 (GRCm39)	Q8L	possibly damaging	Het
Ttc17	G	T	2: 94,163,236 (GRCm39)	Q862K	possibly damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp1004	T	A	2: 150,033,981 (GRCm39)	C132S	probably damaging	Het
Zfp229	T	C	17: 21,962,885 (GRCm39)	I68T	probably benign	Het
Zfp423	A	G	8: 88,631,128 (GRCm39)	V30A	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
R0743:Sirt4	UTSW	5	115,621,014 (GRCm39)	missense	probably benign	0.03
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
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'- GCCTCTGAGGGATTTACAAGC -3'
(R):5'- CGTACATGTTGAACTATAACCGGC -3'

Sequencing Primer
(F):5'- CCTCTGAGGGATTTACAAGCGAGAG -3'
(R):5'- AGCTGTTTGCAGACATACCG -3'

Posted On

2016-02-04