Incidental Mutation 'IGL02253:Sirt7'
| ID |
286499 |
| 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: 0.177)
|
| Stock # |
IGL02253
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120509197-120515840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120511693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 13
(I13T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120405
(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: I200T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079093
Gene: ENSMUSG00000025138
AA Change: I200T
| 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: I13T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000120405
Gene: ENSMUSG00000025138
AA Change: I13T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2
|
1 |
89 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133625
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134255
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,807,182 (GRCm39) |
E76G |
probably benign |
Het |
| Adamtsl2 |
A |
T |
2: 26,988,709 (GRCm39) |
T587S |
possibly damaging |
Het |
| Adgre4 |
T |
A |
17: 56,067,573 (GRCm39) |
M9K |
probably benign |
Het |
| Aff2 |
T |
A |
X: 68,874,397 (GRCm39) |
V447E |
probably benign |
Het |
| Arhgef10l |
G |
T |
4: 140,271,595 (GRCm39) |
S425* |
probably null |
Het |
| Cabcoco1 |
T |
C |
10: 68,272,107 (GRCm39) |
|
probably null |
Het |
| Calcr |
T |
A |
6: 3,707,523 (GRCm39) |
H259L |
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,859,161 (GRCm39) |
|
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,091,936 (GRCm39) |
H540Y |
possibly damaging |
Het |
| Cyp2a22 |
A |
T |
7: 26,637,662 (GRCm39) |
|
probably benign |
Het |
| Ddx3x |
T |
C |
X: 13,151,207 (GRCm39) |
|
probably benign |
Het |
| Dnajc11 |
T |
A |
4: 152,034,976 (GRCm39) |
Y28* |
probably null |
Het |
| Dock11 |
T |
C |
X: 35,304,781 (GRCm39) |
F1472S |
probably damaging |
Het |
| Dusp18 |
T |
C |
11: 3,847,576 (GRCm39) |
*189Q |
probably null |
Het |
| Dzip3 |
A |
T |
16: 48,765,287 (GRCm39) |
Y476N |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,535,771 (GRCm39) |
|
probably benign |
Het |
| Fam151b |
A |
T |
13: 92,614,435 (GRCm39) |
Y18N |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,019,824 (GRCm39) |
F120S |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,490,788 (GRCm39) |
T969A |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,944,727 (GRCm39) |
L330P |
probably damaging |
Het |
| Kctd20 |
A |
G |
17: 29,180,460 (GRCm39) |
N7S |
probably benign |
Het |
| Kmt2b |
G |
T |
7: 30,281,152 (GRCm39) |
R1276S |
probably damaging |
Het |
| Kmt2d |
C |
T |
15: 98,756,056 (GRCm39) |
|
probably benign |
Het |
| L2hgdh |
G |
A |
12: 69,752,534 (GRCm39) |
|
probably benign |
Het |
| Lifr |
T |
G |
15: 7,220,085 (GRCm39) |
V905G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,305,899 (GRCm39) |
V4E |
probably benign |
Het |
| Nrip3 |
A |
C |
7: 109,360,951 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
T |
G |
13: 69,767,658 (GRCm39) |
V204G |
possibly damaging |
Het |
| Nup54 |
A |
G |
5: 92,565,310 (GRCm39) |
|
probably null |
Het |
| Or5p69 |
T |
A |
7: 107,967,261 (GRCm39) |
V188E |
possibly damaging |
Het |
| Or8c16 |
T |
A |
9: 38,131,031 (GRCm39) |
M304K |
probably benign |
Het |
| Pdcl3 |
A |
G |
1: 39,034,011 (GRCm39) |
D51G |
probably benign |
Het |
| Pdlim1 |
T |
C |
19: 40,218,974 (GRCm39) |
E219G |
probably damaging |
Het |
| Pld4 |
A |
C |
12: 112,733,141 (GRCm39) |
K239T |
probably damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,669,513 (GRCm39) |
Y291C |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,331,476 (GRCm39) |
H2228Q |
probably benign |
Het |
| Rnf222 |
T |
A |
11: 68,783,862 (GRCm39) |
I143N |
probably damaging |
Het |
| Slfn10-ps |
A |
G |
11: 82,919,890 (GRCm39) |
|
noncoding transcript |
Het |
| Slx4ip |
T |
C |
2: 136,842,195 (GRCm39) |
|
probably null |
Het |
| Spata18 |
G |
T |
5: 73,825,939 (GRCm39) |
S164I |
possibly damaging |
Het |
| Spmip2 |
C |
A |
3: 79,356,741 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
C |
A |
3: 79,356,742 (GRCm39) |
|
probably benign |
Het |
| Stk26 |
T |
C |
X: 49,975,565 (GRCm39) |
L212P |
probably damaging |
Het |
| Tmsb15a |
T |
C |
X: 134,620,451 (GRCm39) |
I56V |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,760,742 (GRCm39) |
S150T |
probably damaging |
Het |
| Tubb3 |
T |
C |
8: 124,147,559 (GRCm39) |
M164T |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,012,622 (GRCm39) |
D1125G |
probably benign |
Het |
| Zyg11a |
A |
C |
4: 108,040,892 (GRCm39) |
V685G |
probably null |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation