Incidental Mutation 'IGL02106:Sirt1'
ID |
279992 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sirt1
|
Ensembl Gene |
ENSMUSG00000020063 |
Gene Name |
sirtuin 1 |
Synonyms |
Sir2alpha, Sir2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02106
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
63154784-63174814 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 63171608 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 191
(R191Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137565
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020257]
[ENSMUST00000105442]
[ENSMUST00000120239]
[ENSMUST00000146028]
[ENSMUST00000177694]
|
AlphaFold |
Q923E4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020257
AA Change: R191Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020257 Gene: ENSMUSG00000020063 AA Change: R191Q
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
low complexity region
|
46 |
94 |
N/A |
INTRINSIC |
low complexity region
|
108 |
131 |
N/A |
INTRINSIC |
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
Pfam:SIR2
|
253 |
439 |
1.3e-62 |
PFAM |
PDB:4KXQ|B
|
629 |
648 |
4e-6 |
PDB |
low complexity region
|
649 |
667 |
N/A |
INTRINSIC |
low complexity region
|
672 |
687 |
N/A |
INTRINSIC |
low complexity region
|
702 |
713 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105442
AA Change: R152Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101082 Gene: ENSMUSG00000020063 AA Change: R152Q
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
low complexity region
|
46 |
94 |
N/A |
INTRINSIC |
low complexity region
|
108 |
131 |
N/A |
INTRINSIC |
Pfam:SIR2
|
214 |
400 |
4e-63 |
PFAM |
PDB:4KXQ|B
|
590 |
609 |
3e-6 |
PDB |
low complexity region
|
610 |
628 |
N/A |
INTRINSIC |
low complexity region
|
633 |
648 |
N/A |
INTRINSIC |
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120239
AA Change: R191Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112595 Gene: ENSMUSG00000020063 AA Change: R191Q
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
low complexity region
|
46 |
94 |
N/A |
INTRINSIC |
low complexity region
|
108 |
131 |
N/A |
INTRINSIC |
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
Pfam:SIR2
|
253 |
439 |
6.5e-64 |
PFAM |
PDB:4KXQ|B
|
629 |
648 |
4e-6 |
PDB |
low complexity region
|
649 |
667 |
N/A |
INTRINSIC |
low complexity region
|
672 |
687 |
N/A |
INTRINSIC |
low complexity region
|
702 |
713 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131371
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146028
AA Change: R21Q
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117819 Gene: ENSMUSG00000020063 AA Change: R21Q
Domain | Start | End | E-Value | Type |
Pfam:SIR2
|
83 |
140 |
1.9e-15 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177694
AA Change: R191Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137565 Gene: ENSMUSG00000020063 AA Change: R191Q
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
low complexity region
|
46 |
94 |
N/A |
INTRINSIC |
low complexity region
|
108 |
131 |
N/A |
INTRINSIC |
low complexity region
|
136 |
148 |
N/A |
INTRINSIC |
Pfam:SIR2
|
253 |
439 |
7.3e-63 |
PFAM |
low complexity region
|
465 |
483 |
N/A |
INTRINSIC |
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
low complexity region
|
518 |
529 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the sirtuin family of proteins, characterized by their deacetylase activity and proposed role in longevity. The encoded protein regulates gene expression in a wide range of cell and tissue types through its NAD+-dependent deacetylation of histones, transcription factors and transcriptional coactivators. Brain-specific overexpression of this gene has been shown to result in increased median lifespan. Viability of homozygous knockout mice for this gene varies with strain background. Homozygous knockout mice of strains that do not exhibit embryonic lethality are sterile and have a reduced lifespan. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015] PHENOTYPE: Mice homozygous for a knock-out allele show embryonic and fetal lethality, abnormal embryogenesis, and abnormal cellular phenotypes of derived MEFs. Mice homozygous for other knock-out alleles may exhibit peri- and postnatal lethality and heart, mammary gland, eye, and reproductive system anomalies. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bcl9l |
A |
G |
9: 44,420,496 (GRCm39) |
N1264D |
probably benign |
Het |
Bmyc |
A |
G |
2: 25,597,082 (GRCm39) |
K49E |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Ceacam2 |
A |
G |
7: 25,230,166 (GRCm39) |
S147P |
probably benign |
Het |
Cep152 |
G |
T |
2: 125,444,856 (GRCm39) |
|
probably null |
Het |
Cnbd1 |
G |
T |
4: 18,894,993 (GRCm39) |
P250T |
possibly damaging |
Het |
Col6a4 |
A |
G |
9: 105,940,304 (GRCm39) |
C1209R |
possibly damaging |
Het |
Coro1c |
T |
C |
5: 113,990,334 (GRCm39) |
T116A |
probably benign |
Het |
Ddx46 |
A |
G |
13: 55,825,416 (GRCm39) |
|
probably benign |
Het |
Dnaaf5 |
T |
C |
5: 139,137,268 (GRCm39) |
I207T |
probably damaging |
Het |
Erap1 |
A |
G |
13: 74,794,758 (GRCm39) |
D139G |
probably benign |
Het |
Fbxw22 |
A |
T |
9: 109,231,087 (GRCm39) |
I121N |
possibly damaging |
Het |
Fcmr |
T |
C |
1: 130,802,872 (GRCm39) |
S162P |
probably benign |
Het |
Gadl1 |
A |
G |
9: 115,766,225 (GRCm39) |
|
probably benign |
Het |
Gli2 |
T |
A |
1: 118,764,465 (GRCm39) |
S1229C |
probably benign |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Gne |
T |
C |
4: 44,037,306 (GRCm39) |
N692D |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,902,489 (GRCm39) |
T1397A |
possibly damaging |
Het |
Lama3 |
C |
A |
18: 12,601,371 (GRCm39) |
A1016E |
probably damaging |
Het |
Lhfpl2 |
A |
G |
13: 94,328,419 (GRCm39) |
D160G |
probably benign |
Het |
Lmtk2 |
T |
A |
5: 144,112,769 (GRCm39) |
V1163E |
probably benign |
Het |
Lrrtm2 |
G |
T |
18: 35,345,868 (GRCm39) |
S478* |
probably null |
Het |
Nfatc2ip |
T |
C |
7: 125,989,736 (GRCm39) |
|
probably null |
Het |
Nlrp12 |
A |
G |
7: 3,282,574 (GRCm39) |
I775T |
probably benign |
Het |
Npr1 |
A |
G |
3: 90,372,165 (GRCm39) |
F216L |
probably benign |
Het |
Or4m1 |
A |
T |
14: 50,557,617 (GRCm39) |
L225H |
probably damaging |
Het |
Or5ac24 |
T |
A |
16: 59,165,387 (GRCm39) |
N226Y |
probably benign |
Het |
Or5b99 |
G |
T |
19: 12,976,929 (GRCm39) |
S193I |
possibly damaging |
Het |
Pkd1l1 |
C |
A |
11: 8,783,800 (GRCm39) |
G2052C |
probably damaging |
Het |
Ppp1r16b |
A |
G |
2: 158,588,451 (GRCm39) |
N112S |
possibly damaging |
Het |
Prr11 |
A |
G |
11: 86,994,141 (GRCm39) |
|
probably benign |
Het |
Scap |
A |
G |
9: 110,210,724 (GRCm39) |
|
probably benign |
Het |
Slc38a6 |
A |
C |
12: 73,397,320 (GRCm39) |
S321R |
possibly damaging |
Het |
Sp140 |
T |
C |
1: 85,570,940 (GRCm39) |
V460A |
probably benign |
Het |
Spdye4c |
A |
T |
2: 128,434,586 (GRCm39) |
K54N |
possibly damaging |
Het |
Spta1 |
T |
A |
1: 174,030,860 (GRCm39) |
N947K |
probably benign |
Het |
Srgap1 |
A |
G |
10: 121,621,598 (GRCm39) |
V965A |
possibly damaging |
Het |
Tmem209 |
A |
C |
6: 30,508,659 (GRCm39) |
|
probably null |
Het |
Trim37 |
A |
T |
11: 87,092,230 (GRCm39) |
K123* |
probably null |
Het |
Trio |
T |
C |
15: 27,744,244 (GRCm39) |
T2563A |
possibly damaging |
Het |
Utrn |
A |
T |
10: 12,289,717 (GRCm39) |
S734T |
possibly damaging |
Het |
Vars2 |
A |
G |
17: 35,975,513 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
G |
A |
9: 95,859,858 (GRCm39) |
E417K |
probably benign |
Het |
Yeats2 |
T |
A |
16: 20,011,970 (GRCm39) |
V515E |
possibly damaging |
Het |
|
Other mutations in Sirt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02057:Sirt1
|
APN |
10 |
63,160,982 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4283001:Sirt1
|
UTSW |
10 |
63,157,565 (GRCm39) |
missense |
probably benign |
0.02 |
R0658:Sirt1
|
UTSW |
10 |
63,157,515 (GRCm39) |
unclassified |
probably benign |
|
R0724:Sirt1
|
UTSW |
10 |
63,159,752 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1653:Sirt1
|
UTSW |
10 |
63,157,588 (GRCm39) |
missense |
probably benign |
|
R1831:Sirt1
|
UTSW |
10 |
63,156,425 (GRCm39) |
missense |
probably benign |
0.13 |
R4133:Sirt1
|
UTSW |
10 |
63,171,438 (GRCm39) |
missense |
probably null |
0.42 |
R4250:Sirt1
|
UTSW |
10 |
63,172,877 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4378:Sirt1
|
UTSW |
10 |
63,174,728 (GRCm39) |
missense |
probably benign |
0.00 |
R4396:Sirt1
|
UTSW |
10 |
63,157,777 (GRCm39) |
missense |
probably benign |
0.00 |
R4776:Sirt1
|
UTSW |
10 |
63,171,501 (GRCm39) |
missense |
probably benign |
0.17 |
R4898:Sirt1
|
UTSW |
10 |
63,157,783 (GRCm39) |
missense |
probably benign |
0.35 |
R7151:Sirt1
|
UTSW |
10 |
63,159,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R7365:Sirt1
|
UTSW |
10 |
63,157,782 (GRCm39) |
missense |
probably benign |
|
R7467:Sirt1
|
UTSW |
10 |
63,157,929 (GRCm39) |
missense |
probably benign |
0.00 |
R7773:Sirt1
|
UTSW |
10 |
63,162,562 (GRCm39) |
missense |
possibly damaging |
0.75 |
R8729:Sirt1
|
UTSW |
10 |
63,156,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R8949:Sirt1
|
UTSW |
10 |
63,161,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R9095:Sirt1
|
UTSW |
10 |
63,158,077 (GRCm39) |
missense |
probably damaging |
0.98 |
R9228:Sirt1
|
UTSW |
10 |
63,172,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R9423:Sirt1
|
UTSW |
10 |
63,158,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R9463:Sirt1
|
UTSW |
10 |
63,171,487 (GRCm39) |
missense |
probably benign |
0.17 |
R9759:Sirt1
|
UTSW |
10 |
63,156,516 (GRCm39) |
missense |
probably benign |
0.00 |
RF015:Sirt1
|
UTSW |
10 |
63,172,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |