Mutagenetix > Incidental Mutation

Incidental Mutation 'R8773:Sirt7'

664550

Institutional Source

Beutler Lab

Gene Symbol

Sirt7

Ensembl Gene

ENSMUSG00000025138

Gene Name

sirtuin 7

Synonyms

MMRRC Submission

068627-MU

Accession Numbers

Essential gene?

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

Stock #

R8773 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120509197-120515840 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 120514888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 115 (R115*)

Ref Sequence

ENSEMBL: ENSMUSP00000101789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058162] [ENSMUST00000080202] [ENSMUST00000106182] [ENSMUST00000106183] [ENSMUST00000146809]

AlphaFold

Q8BKJ9

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

SMART Domains

Protein: ENSMUSP00000079093
Gene: ENSMUSG00000025138

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: ENSMUST00000106182

SMART Domains

Protein: ENSMUSP00000101788
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 null
Transcript: ENSMUST00000106183
AA Change: R115*

SMART Domains

Protein: ENSMUSP00000101789
Gene: ENSMUSG00000025138
AA Change: R115*

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

probably benign
Transcript: ENSMUST00000146809

SMART Domains

Protein: ENSMUSP00000120405
Gene: ENSMUSG00000025138

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (63/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,314,062 (GRCm39)	S539T	possibly damaging	Het
Abcc6	C	T	7: 45,634,569 (GRCm39)	R1136Q	probably benign	Het
Abhd12b	A	C	12: 70,213,708 (GRCm39)		probably null	Het
Agk	T	G	6: 40,334,050 (GRCm39)	V98G	possibly damaging	Het
Apbb2	A	G	5: 66,609,252 (GRCm39)	S132P	probably damaging	Het
Apc2	T	C	10: 80,142,046 (GRCm39)	S322P	probably damaging	Het
Armc3	T	C	2: 19,293,667 (GRCm39)	V486A	probably benign	Het
Asxl2	A	G	12: 3,507,200 (GRCm39)	K131E	probably damaging	Het
Atp13a4	A	G	16: 29,260,398 (GRCm39)	V560A		Het
Bnc1	C	T	7: 81,623,719 (GRCm39)	G503S	probably damaging	Het
Bsn	C	A	9: 107,987,704 (GRCm39)	V2683F	unknown	Het
Btbd7	A	T	12: 102,804,241 (GRCm39)	N266K	probably benign	Het
Ccdc121rt2	T	C	5: 112,597,681 (GRCm39)	V76A	probably benign	Het
Cdca7l	G	A	12: 117,839,346 (GRCm39)	D350N	possibly damaging	Het
Cfap251	A	G	5: 123,411,913 (GRCm39)	D515G	probably benign	Het
Ciao2a	A	T	9: 66,045,667 (GRCm39)	N145I	probably damaging	Het
Col6a3	T	A	1: 90,696,171 (GRCm39)	D3239V	unknown	Het
Col9a1	T	A	1: 24,224,208 (GRCm39)	I130N	unknown	Het
Cr2	A	G	1: 194,840,913 (GRCm39)	W460R	probably damaging	Het
Cyb561d2	A	G	9: 107,417,583 (GRCm39)	F56S	probably damaging	Het
Dnaaf1	A	G	8: 120,302,194 (GRCm39)	I32V	probably benign	Het
Dnah11	T	A	12: 117,958,950 (GRCm39)	T2978S	possibly damaging	Het
Dsg2	T	A	18: 20,716,056 (GRCm39)	D302E	probably damaging	Het
Faf1	T	A	4: 109,699,507 (GRCm39)	F351I	possibly damaging	Het
Gimap8	C	A	6: 48,633,545 (GRCm39)	Q455K	probably benign	Het
Hps6	C	G	19: 45,994,141 (GRCm39)	R693G	possibly damaging	Het
Irx1	C	T	13: 72,107,635 (GRCm39)	G349D	probably damaging	Het
Itga8	C	G	2: 12,187,495 (GRCm39)	G728A	probably damaging	Het
Lcat	T	C	8: 106,666,710 (GRCm39)	T271A	possibly damaging	Het
Mapkapk2	T	C	1: 130,983,679 (GRCm39)	H308R	probably damaging	Het
Mast1	A	T	8: 85,642,953 (GRCm39)	N947K	probably damaging	Het
Mpeg1	A	T	19: 12,440,419 (GRCm39)	I626F	probably damaging	Het
Mrtfa	T	C	15: 80,902,274 (GRCm39)	S349G	possibly damaging	Het
Myh15	T	C	16: 49,015,900 (GRCm39)	S1859P	possibly damaging	Het
Nlrx1	A	T	9: 44,167,712 (GRCm39)	D728E	probably benign	Het
Or1j8	A	G	2: 36,192,387 (GRCm39)	T279A	probably benign	Het
Or8c19-ps1	G	T	9: 38,220,516 (GRCm39)	V142F	probably benign	Het
Pcdhb18	A	T	18: 37,624,562 (GRCm39)	S631C	probably damaging	Het
Pcdhga11	C	A	18: 37,890,364 (GRCm39)	Y457*	probably null	Het
Pcdhga5	T	C	18: 37,829,823 (GRCm39)	I757T	probably benign	Het
Pcgf5	G	A	19: 36,389,348 (GRCm39)		probably benign	Het
Pdf	A	G	8: 107,775,100 (GRCm39)	V44A	possibly damaging	Het
Pip4p1	T	C	14: 51,166,503 (GRCm39)	T194A	possibly damaging	Het
Prtg	A	T	9: 72,819,583 (GRCm39)	*1192L	probably null	Het
Ptk7	A	G	17: 46,877,193 (GRCm39)	F955S	possibly damaging	Het
Rbp3	C	A	14: 33,684,492 (GRCm39)	Q1174K	possibly damaging	Het
Rufy1	T	C	11: 50,321,796 (GRCm39)	D46G	possibly damaging	Het
Sbf2	A	G	7: 109,948,202 (GRCm39)	V1216A	probably benign	Het
Serpina11	A	G	12: 103,952,722 (GRCm39)	V18A	unknown	Het
Serpinb6a	T	A	13: 34,115,543 (GRCm39)	N47I	probably damaging	Het
Shc2	T	C	10: 79,456,924 (GRCm39)	H564R	probably damaging	Het
Slc22a14	A	T	9: 119,059,290 (GRCm39)		probably benign	Het
Stra8	T	A	6: 34,912,581 (GRCm39)	S331T	probably damaging	Het
Tm9sf2	A	G	14: 122,380,883 (GRCm39)	T324A	probably benign	Het
Tmem268	T	C	4: 63,498,530 (GRCm39)	S224P	probably benign	Het
Tns1	T	C	1: 73,976,407 (GRCm39)	D1147G	probably damaging	Het
Tomm22	C	T	15: 79,555,311 (GRCm39)		probably benign	Het
Top1	A	G	2: 160,556,158 (GRCm39)	Y539C	probably damaging	Het
Tpp2	T	A	1: 44,009,552 (GRCm39)		probably benign	Het
Trav3-1	T	C	14: 52,818,428 (GRCm39)	V34A	probably damaging	Het
Tspyl5	T	C	15: 33,687,238 (GRCm39)	N236D	possibly damaging	Het
Ttc41	A	G	10: 86,565,679 (GRCm39)	D411G	probably benign	Het
Vmn1r128	A	T	7: 21,083,922 (GRCm39)	M209L	probably benign	Het
Xirp2	T	A	2: 67,355,527 (GRCm39)	D3429E	probably benign	Het
Zfp418	A	T	7: 7,185,797 (GRCm39)	T587S	probably benign	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
IGL02928:Sirt7	APN	11	120,511,042 (GRCm39)	missense	probably benign	0.03
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
R9680:Sirt7	UTSW	11	120,511,296 (GRCm39)	missense
Z1177:Sirt7	UTSW	11	120,509,872 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTACCAGGACTCTGTCTGG -3'
(R):5'- TAAGACTTAACTAAGGCAACGTGAC -3'

Sequencing Primer
(F):5'- CAGGCTGCTCTCAAGAGTTTGATC -3'
(R):5'- TCAAGATCAGCCTGGTCTGCATAG -3'

Posted On

2021-03-08