Incidental Mutation 'R5712:Sirt7'
| ID |
450964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sirt7
|
| Ensembl Gene |
ENSMUSG00000025138 |
| Gene Name |
sirtuin 7 |
| Synonyms |
|
| MMRRC Submission |
043334-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R5712 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120509197-120515840 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 120511677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 18
(Y18*)
|
| 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 null
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 null
Transcript: ENSMUST00000080202
AA Change: Y205*
|
| SMART Domains |
Protein: ENSMUSP00000079093
Gene: ENSMUSG00000025138
AA Change: Y205*
| 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 null
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 null
Transcript: ENSMUST00000146809
AA Change: Y18*
|
| SMART Domains |
Protein: ENSMUSP00000120405
Gene: ENSMUSG00000025138
AA Change: Y18*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2
|
1 |
89 |
1.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133625
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154714
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,981,563 (GRCm39) |
T133A |
probably benign |
Het |
| Adcy8 |
C |
T |
15: 64,626,715 (GRCm39) |
E708K |
probably damaging |
Het |
| Alkbh1 |
A |
G |
12: 87,475,883 (GRCm39) |
C300R |
probably benign |
Het |
| Arhgap11a |
T |
C |
2: 113,675,646 (GRCm39) |
N52D |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,959,297 (GRCm39) |
S2225T |
probably damaging |
Het |
| Aspn |
A |
T |
13: 49,716,995 (GRCm39) |
Y257F |
probably damaging |
Het |
| Atp2b4 |
A |
C |
1: 133,658,278 (GRCm39) |
V544G |
probably damaging |
Het |
| Bclaf1 |
T |
G |
10: 20,209,277 (GRCm39) |
Y498D |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,796,954 (GRCm39) |
I1520T |
probably damaging |
Het |
| Castor1 |
T |
C |
11: 4,168,378 (GRCm39) |
L22P |
probably damaging |
Het |
| Cfap57 |
G |
T |
4: 118,471,992 (GRCm39) |
P129Q |
probably damaging |
Het |
| Clcn3 |
A |
G |
8: 61,390,332 (GRCm39) |
|
probably null |
Het |
| Epx |
A |
T |
11: 87,765,679 (GRCm39) |
Y93* |
probably null |
Het |
| Erich6b |
T |
A |
14: 75,896,340 (GRCm39) |
D75E |
possibly damaging |
Het |
| Exoc3l4 |
T |
A |
12: 111,390,476 (GRCm39) |
Y350* |
probably null |
Het |
| Fam13a |
T |
A |
6: 58,933,684 (GRCm39) |
D302V |
probably damaging |
Het |
| Fbxo17 |
G |
A |
7: 28,436,897 (GRCm39) |
R284H |
probably damaging |
Het |
| Fga |
C |
T |
3: 82,940,440 (GRCm39) |
T698I |
possibly damaging |
Het |
| Fsip2 |
T |
C |
2: 82,839,192 (GRCm39) |
S6987P |
possibly damaging |
Het |
| Gbp9 |
T |
A |
5: 105,242,421 (GRCm39) |
N106I |
possibly damaging |
Het |
| Gls |
T |
A |
1: 52,235,911 (GRCm39) |
K401N |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,291,254 (GRCm39) |
K146E |
probably damaging |
Het |
| Gpr3 |
A |
G |
4: 132,937,719 (GRCm39) |
S318P |
probably benign |
Het |
| Kbtbd7 |
T |
C |
14: 79,666,205 (GRCm39) |
V679A |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,409,678 (GRCm39) |
L127H |
probably damaging |
Het |
| Lck |
G |
T |
4: 129,450,103 (GRCm39) |
H214Q |
probably benign |
Het |
| Lrch4 |
A |
C |
5: 137,636,188 (GRCm39) |
S380R |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,586,425 (GRCm39) |
K414* |
probably null |
Het |
| Maco1 |
A |
T |
4: 134,555,369 (GRCm39) |
M368K |
probably benign |
Het |
| Med11 |
A |
G |
11: 70,344,058 (GRCm39) |
E126G |
probably damaging |
Het |
| Mknk1 |
A |
G |
4: 115,712,203 (GRCm39) |
|
probably null |
Het |
| Mst1 |
T |
C |
9: 107,960,107 (GRCm39) |
C355R |
probably damaging |
Het |
| Mtcl2 |
T |
A |
2: 156,872,841 (GRCm39) |
E890V |
probably damaging |
Het |
| Myl10 |
T |
C |
5: 136,723,092 (GRCm39) |
F14L |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,325,932 (GRCm39) |
T1125M |
probably benign |
Het |
| Nin |
T |
C |
12: 70,089,543 (GRCm39) |
T1291A |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,265,105 (GRCm39) |
Q335R |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,638,888 (GRCm39) |
T83A |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,692,756 (GRCm39) |
M141K |
probably benign |
Het |
| Rnf17 |
G |
A |
14: 56,708,856 (GRCm39) |
V759I |
probably benign |
Het |
| Slc27a5 |
T |
C |
7: 12,732,010 (GRCm39) |
|
probably benign |
Het |
| Synpo2 |
T |
A |
3: 122,914,859 (GRCm39) |
I56F |
probably damaging |
Het |
| Tdrd6 |
C |
A |
17: 43,937,299 (GRCm39) |
G1250C |
probably damaging |
Het |
| Tmem190 |
G |
A |
7: 4,787,288 (GRCm39) |
G164D |
probably damaging |
Het |
| Tmigd1 |
T |
C |
11: 76,797,858 (GRCm39) |
Y67H |
probably damaging |
Het |
| Trim3 |
T |
A |
7: 105,268,743 (GRCm39) |
E70D |
probably damaging |
Het |
| Uap1 |
A |
G |
1: 169,994,414 (GRCm39) |
F21L |
possibly damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,925 (GRCm39) |
V76D |
probably benign |
Het |
| Vps13d |
A |
C |
4: 144,813,743 (GRCm39) |
S3245A |
probably benign |
Het |
| Wnt7a |
T |
C |
6: 91,343,186 (GRCm39) |
Y232C |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,398,360 (GRCm39) |
V4224A |
unknown |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACCCTAAACACAGGATTG -3'
(R):5'- TGCAACACGTGGTGTCTCAG -3'
Sequencing Primer
(F):5'- ACAGGATTGTGTCTGCTTTGC -3'
(R):5'- CAACACGTGGTGTCTCAGAACTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation