Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02928:Sirt7'

363965

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sirt7

Ensembl Gene

ENSMUSG00000025138

Gene Name

sirtuin 7

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.216) question?

Stock #

IGL02928

Quality Score

Status

Chromosome

Chromosomal Location

120509197-120515840 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120511042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 318 (D318E)

Ref Sequence

ENSEMBL: ENSMUSP00000079093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026129] [ENSMUST00000058162] [ENSMUST00000080202] [ENSMUST00000106183] [ENSMUST00000106188] [ENSMUST00000146809]

AlphaFold

Q8BKJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000026129

SMART Domains

Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_like	26	152	2.6e-32	PFAM
Pfam:CTP_transf_like	235	384	8.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058162

SMART Domains

Protein: ENSMUSP00000053899
Gene: ENSMUSG00000051510

Domain	Start	End	E-Value	Type
BRLZ	46	113	4.43e-7	SMART
low complexity region	125	143	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000080202
AA Change: D318E

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000079093
Gene: ENSMUSG00000025138
AA Change: D318E

Domain	Start	End	E-Value	Type
coiled coil region	24	48	N/A	INTRINSIC
low complexity region	65	78	N/A	INTRINSIC
Pfam:SIR2	134	276	1.1e-22	PFAM
low complexity region	393	400	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106183

SMART Domains

Protein: ENSMUSP00000101789
Gene: ENSMUSG00000025138

Domain	Start	End	E-Value	Type
coiled coil region	24	48	N/A	INTRINSIC
low complexity region	65	78	N/A	INTRINSIC
SCOP:d1icia_	92	113	7e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106187

Predicted Effect

probably benign
Transcript: ENSMUST00000106188

SMART Domains

Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_2	26	152	9.8e-25	PFAM
Pfam:CTP_transf_2	217	332	2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126148

Predicted Effect

probably benign
Transcript: ENSMUST00000146809
AA Change: D131E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000120405
Gene: ENSMUSG00000025138
AA Change: D131E

Domain	Start	End	E-Value	Type
Pfam:SIR2	1	89	1.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153532

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 IV of the sirtuin family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit premature aging and death associated with inflammatory, degenerative cardiac hypertrophy and cardiac fibrosis. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(2) Targeted, other(1)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,980,327 (GRCm39)	Y92C	probably damaging	Het
Aadacl4fm1	A	T	4: 144,255,802 (GRCm39)	L407F	possibly damaging	Het
Abcc3	G	T	11: 94,252,132 (GRCm39)	T817K	possibly damaging	Het
Arhgap10	G	A	8: 77,977,539 (GRCm39)		probably benign	Het
Arhgef16	G	T	4: 154,367,350 (GRCm39)	Q352K	probably benign	Het
Cep104	A	G	4: 154,065,716 (GRCm39)	I68V	probably benign	Het
Col5a2	G	A	1: 45,424,180 (GRCm39)	A1082V	probably benign	Het
Col6a1	A	T	10: 76,545,500 (GRCm39)	Y991N	possibly damaging	Het
Ehmt2	T	C	17: 35,129,798 (GRCm39)	I1021T	probably damaging	Het
Eif2ak4	G	A	2: 118,303,168 (GRCm39)		probably null	Het
Ern1	A	G	11: 106,296,705 (GRCm39)		probably benign	Het
Fgf18	A	T	11: 33,074,674 (GRCm39)	I99N	possibly damaging	Het
Glp1r	A	G	17: 31,137,911 (GRCm39)	D114G	probably benign	Het
Gm10553	A	G	1: 85,077,933 (GRCm39)	K17E	possibly damaging	Het
Gm5422	T	A	10: 31,126,250 (GRCm39)		noncoding transcript	Het
Gnb1	A	C	4: 155,637,863 (GRCm39)	T196P	probably benign	Het
Ighv6-5	T	A	12: 114,380,412 (GRCm39)	D35V	probably benign	Het
Il18r1	G	A	1: 40,517,711 (GRCm39)		probably null	Het
Ipo11	A	T	13: 107,025,863 (GRCm39)		probably benign	Het
Itih1	T	A	14: 30,659,715 (GRCm39)	Q307L	probably damaging	Het
Mmp1b	T	A	9: 7,368,242 (GRCm39)	*464L	probably null	Het
Mrps7	C	T	11: 115,495,910 (GRCm39)	Q113*	probably null	Het
Npat	A	C	9: 53,478,138 (GRCm39)		probably benign	Het
Nrp2	A	G	1: 62,854,605 (GRCm39)	I852V	probably damaging	Het
Or10ak14	A	G	4: 118,611,697 (GRCm39)	F15L	probably damaging	Het
Or5ae2	A	G	7: 84,506,273 (GRCm39)	E232G	probably benign	Het
P2rx6	T	A	16: 17,382,901 (GRCm39)		probably benign	Het
Parp6	T	A	9: 59,548,346 (GRCm39)	N466K	possibly damaging	Het
Prss12	A	T	3: 123,280,805 (GRCm39)	N497Y	possibly damaging	Het
Psg22	T	C	7: 18,453,458 (GRCm39)	V51A	probably damaging	Het
Ptgir	T	C	7: 16,642,923 (GRCm39)	S175P	possibly damaging	Het
Rd3l	T	C	12: 111,946,012 (GRCm39)	S156G	probably benign	Het
Reck	C	T	4: 43,912,078 (GRCm39)	H196Y	possibly damaging	Het
Rft1	T	A	14: 30,385,072 (GRCm39)	V165D	possibly damaging	Het
Rin2	A	G	2: 145,701,926 (GRCm39)		probably benign	Het
Rufy4	A	G	1: 74,168,241 (GRCm39)		probably benign	Het
Scfd2	G	A	5: 74,691,832 (GRCm39)	T150M	probably damaging	Het
Sgca	A	G	11: 94,863,129 (GRCm39)	W75R	probably damaging	Het
Smr2l	A	T	5: 88,424,976 (GRCm39)	I14L	probably benign	Het
Snta1	C	T	2: 154,222,959 (GRCm39)	A255T	probably benign	Het
Stxbp2	A	G	8: 3,691,736 (GRCm39)	D485G	probably damaging	Het
Sycp1	T	A	3: 102,726,134 (GRCm39)		probably benign	Het
Tenm2	A	G	11: 35,917,997 (GRCm39)	V1922A	possibly damaging	Het
Ttc7b	A	T	12: 100,369,674 (GRCm39)	V365D	probably damaging	Het
Upk3b	A	G	5: 136,067,995 (GRCm39)	E62G	probably benign	Het
Wdr36	T	C	18: 32,980,372 (GRCm39)		probably null	Het
Yars2	T	C	16: 16,121,410 (GRCm39)	F188S	probably damaging	Het

Other mutations in Sirt7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00582:Sirt7	APN	11	120,509,735 (GRCm39)	missense	probably benign	0.04
IGL02253:Sirt7	APN	11	120,511,693 (GRCm39)	missense	probably benign	0.00
1mM(1):Sirt7	UTSW	11	120,512,970 (GRCm39)	missense	probably benign	0.00
R0634:Sirt7	UTSW	11	120,512,955 (GRCm39)	unclassified	probably benign
R1677:Sirt7	UTSW	11	120,515,365 (GRCm39)	missense	possibly damaging	0.92
R2279:Sirt7	UTSW	11	120,515,321 (GRCm39)	missense	probably damaging	1.00
R5260:Sirt7	UTSW	11	120,511,347 (GRCm39)	intron	probably benign
R5712:Sirt7	UTSW	11	120,511,677 (GRCm39)	nonsense	probably null
R7186:Sirt7	UTSW	11	120,511,311 (GRCm39)	missense	probably benign
R7194:Sirt7	UTSW	11	120,509,799 (GRCm39)	missense	probably benign	0.00
R7462:Sirt7	UTSW	11	120,511,618 (GRCm39)	missense	probably benign	0.01
R7491:Sirt7	UTSW	11	120,509,837 (GRCm39)	missense	probably benign	0.00
R7972:Sirt7	UTSW	11	120,510,016 (GRCm39)	missense	unknown
R8773:Sirt7	UTSW	11	120,514,888 (GRCm39)	nonsense	probably null
R9680:Sirt7	UTSW	11	120,511,296 (GRCm39)	missense
Z1177:Sirt7	UTSW	11	120,509,872 (GRCm39)	missense	probably benign

Posted On

2015-12-18