Mutagenetix > Incidental Mutation

Incidental Mutation 'R8703:Sirt6'

669164

Institutional Source

Beutler Lab

Gene Symbol

Sirt6

Ensembl Gene

ENSMUSG00000034748

Gene Name

sirtuin 6

Synonyms

2810449N18Rik

MMRRC Submission

068557-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.372) question?

Stock #

R8703 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81457621-81463631 bp(-) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

A to G at 81461548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042923] [ENSMUST00000119324] [ENSMUST00000119336] [ENSMUST00000123896] [ENSMUST00000129622] [ENSMUST00000143424] [ENSMUST00000153573]

AlphaFold

P59941

Predicted Effect

probably benign
Transcript: ENSMUST00000042923

SMART Domains

Protein: ENSMUSP00000048971
Gene: ENSMUSG00000034748

Domain	Start	End	E-Value	Type
Pfam:SIR2	52	81	1.1e-7	PFAM
Pfam:SIR2	80	221	5.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119324

SMART Domains

Protein: ENSMUSP00000113953
Gene: ENSMUSG00000034748

Domain	Start	End	E-Value	Type
Pfam:SIR2	12	48	2.1e-7	PFAM
Pfam:SIR2	41	181	4.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119336

SMART Domains

Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708

Domain	Start	End	E-Value	Type
Blast:ANK	18	48	1e-6	BLAST
ANK	52	81	2.92e-2	SMART
ANK	85	114	7.53e-5	SMART
ANK	118	149	4.07e-1	SMART
ANK	151	180	2.92e-2	SMART
ANK	184	213	3.97e-4	SMART
low complexity region	240	250	N/A	INTRINSIC
low complexity region	269	283	N/A	INTRINSIC
internal_repeat_2	488	606	4.87e-8	PROSPERO
internal_repeat_2	597	713	4.87e-8	PROSPERO
low complexity region	718	736	N/A	INTRINSIC
coiled coil region	747	895	N/A	INTRINSIC
Blast:ANK	950	977	3e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000123896

SMART Domains

Protein: ENSMUSP00000116603
Gene: ENSMUSG00000054708

Domain	Start	End	E-Value	Type
ANK	23	54	4.07e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129622

Predicted Effect

probably benign
Transcript: ENSMUST00000143424

SMART Domains

Protein: ENSMUSP00000118238
Gene: ENSMUSG00000034748

Domain	Start	End	E-Value	Type
Pfam:SIR2	12	50	1.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153573

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (44/44)

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 NAD-dependent enzymes that are implicated in cellular stress resistance, genomic stability, aging and energy homeostasis. The encoded protein is localized to the nucleus, exhibits ADP-ribosyl transferase and histone deacetylase activities, and plays a role in DNA repair, maintenance of telomeric chromatin, inflammation, lipid and glucose metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a null allele display late postnatal lethality with lordokyphosis, progressive lymphopenia, loss of subcutaneous fat, reduced bone density, decreased serum glucose, increased chromosomal instability, and increased sensitivity to ionizing radiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	A	13: 81,676,792 (GRCm39)	T2013I	probably damaging	Het
Ak9	A	T	10: 41,201,120 (GRCm39)	N137Y		Het
Apol10b	T	A	15: 77,472,897 (GRCm39)	E52D	probably damaging	Het
Calr3	A	T	8: 73,192,291 (GRCm39)	Y128N	probably damaging	Het
Dnah14	T	A	1: 181,493,576 (GRCm39)	L1669*	probably null	Het
Dppa3	A	T	6: 122,605,737 (GRCm39)	D97V	probably damaging	Het
Dync1li1	C	A	9: 114,552,329 (GRCm39)	P490T	probably damaging	Het
Eya4	A	G	10: 23,039,340 (GRCm39)	S85P	probably benign	Het
Fpr-rs4	T	A	17: 18,242,332 (GRCm39)	I113N	probably damaging	Het
Fryl	T	C	5: 73,247,997 (GRCm39)	D1040G	probably damaging	Het
Fsip2	A	T	2: 82,821,871 (GRCm39)	D5868V	probably damaging	Het
Gpr75	A	C	11: 30,841,890 (GRCm39)	Q265P	probably damaging	Het
Iqcm	G	T	8: 76,615,271 (GRCm39)	G451C	probably damaging	Het
Lgr5	A	G	10: 115,288,610 (GRCm39)	L678P	probably benign	Het
Mcm9	G	A	10: 53,506,073 (GRCm39)	P67L	probably damaging	Het
Naalad2	A	C	9: 18,290,008 (GRCm39)	Y207D	probably damaging	Het
Nrap	C	T	19: 56,323,703 (GRCm39)	D1325N	probably damaging	Het
Nup133	A	G	8: 124,643,021 (GRCm39)		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4b1b	T	A	2: 90,126,837 (GRCm39)	I123F	probably damaging	Het
Or8k28	C	A	2: 86,286,244 (GRCm39)	V124L	possibly damaging	Het
Or9i14	G	T	19: 13,792,105 (GRCm39)	P283H	probably damaging	Het
Per2	T	A	1: 91,351,767 (GRCm39)	N913I	possibly damaging	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Reps1	C	T	10: 17,968,990 (GRCm39)	R183C	probably damaging	Het
Rims1	A	T	1: 22,496,137 (GRCm39)	C134S		Het
Rpl10-ps3	A	G	9: 50,256,184 (GRCm39)	S20P	probably benign	Het
Sash1	C	A	10: 8,605,595 (GRCm39)	G932C	probably damaging	Het
Sema4d	T	C	13: 51,854,959 (GRCm39)	Q46R		Het
Sh3d19	A	G	3: 86,014,568 (GRCm39)	E453G	probably damaging	Het
Sis	A	T	3: 72,867,657 (GRCm39)	F129L	probably damaging	Het
Skint5	T	A	4: 113,733,207 (GRCm39)	I399F	unknown	Het
Slc22a7	T	C	17: 46,744,951 (GRCm39)	D365G	probably damaging	Het
Slc6a12	A	G	6: 121,324,447 (GRCm39)	M38V	probably benign	Het
Slc9b2	C	A	3: 135,031,924 (GRCm39)	Y261*	probably null	Het
Spata21	A	G	4: 140,832,218 (GRCm39)	I460V	probably benign	Het
Tes	C	G	6: 17,099,788 (GRCm39)	P261R	probably damaging	Het
Tex15	T	C	8: 34,062,724 (GRCm39)	L718P	probably benign	Het
Tmem135	G	A	7: 88,808,170 (GRCm39)	A202V	probably benign	Het
Usp29	T	C	7: 6,964,321 (GRCm39)	F55L	probably benign	Het
Usp9y	A	G	Y: 1,356,317 (GRCm39)	L1128P	probably damaging	Het
Zdhhc5	T	C	2: 84,520,596 (GRCm39)	E527G	probably benign	Het
Zfand4	A	G	6: 116,250,604 (GRCm39)	I11M	probably damaging	Het
Zfp110	T	A	7: 12,582,888 (GRCm39)	I512K	probably benign	Het
Zfp638	T	A	6: 83,954,143 (GRCm39)	F1416Y	probably damaging	Het

Other mutations in Sirt6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02673:Sirt6	APN	10	81,461,671 (GRCm39)	missense	probably damaging	1.00
IGL03028:Sirt6	APN	10	81,463,375 (GRCm39)	unclassified	probably benign
PIT4283001:Sirt6	UTSW	10	81,458,252 (GRCm39)	missense	possibly damaging	0.95
R0927:Sirt6	UTSW	10	81,458,475 (GRCm39)	missense	probably damaging	1.00
R1792:Sirt6	UTSW	10	81,462,355 (GRCm39)	missense	possibly damaging	0.89
R4618:Sirt6	UTSW	10	81,462,408 (GRCm39)	missense	probably damaging	1.00
R6154:Sirt6	UTSW	10	81,462,339 (GRCm39)	missense	probably damaging	1.00
R7225:Sirt6	UTSW	10	81,458,315 (GRCm39)	missense	probably benign
R7986:Sirt6	UTSW	10	81,458,344 (GRCm39)	missense	probably benign	0.00
R8043:Sirt6	UTSW	10	81,458,240 (GRCm39)	critical splice donor site	probably null
R8406:Sirt6	UTSW	10	81,458,328 (GRCm39)	missense	probably benign	0.05
R8963:Sirt6	UTSW	10	81,462,378 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- CAGTCAGTTGGCCCTAAAGC -3'
(R):5'- TGCTTGCTATCCTCAGAGGC -3'

Sequencing Primer
(F):5'- GCCCTAAAGCCCCTGCC -3'
(R):5'- TATCCTCAGAGGCCCCCATG -3'

Posted On

2021-04-30