Incidental Mutation 'IGL03198:Sirt4'
| ID |
412899 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sirt4
|
| Ensembl Gene |
ENSMUSG00000029524 |
| Gene Name |
sirtuin 4 |
| Synonyms |
4930596O17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03198
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
115616069-115622784 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115621061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 37
(D37G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112066]
[ENSMUST00000112067]
|
| AlphaFold |
Q8R216 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112066
AA Change: D37G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107697
Gene: ENSMUSG00000029524
AA Change: D37G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2
|
59 |
264 |
1.2e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112067
AA Change: D37G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107698
Gene: ENSMUSG00000029524
AA Change: D37G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2
|
59 |
264 |
3.7e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127479
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154729
|
| 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 knock-out allele are viable and fertile and display no apparent phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
A |
T |
1: 9,620,177 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,789,425 (GRCm39) |
|
probably null |
Het |
| Brca1 |
G |
T |
11: 101,403,537 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,368,108 (GRCm39) |
C372S |
probably benign |
Het |
| Clip2 |
A |
T |
5: 134,526,936 (GRCm39) |
|
probably benign |
Het |
| Dgkb |
A |
G |
12: 38,186,615 (GRCm39) |
N262D |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,966,499 (GRCm39) |
|
probably null |
Het |
| Foxj2 |
G |
A |
6: 122,809,966 (GRCm39) |
|
probably null |
Het |
| Gm4297 |
T |
A |
X: 24,418,810 (GRCm39) |
|
probably benign |
Het |
| Grik3 |
A |
G |
4: 125,553,555 (GRCm39) |
D429G |
probably benign |
Het |
| Hcfc1 |
T |
C |
X: 72,994,935 (GRCm39) |
I924V |
possibly damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,956,642 (GRCm39) |
V411A |
probably damaging |
Het |
| Mdh1 |
A |
T |
11: 21,514,168 (GRCm39) |
V83E |
probably damaging |
Het |
| Pa2g4 |
A |
G |
10: 128,401,647 (GRCm39) |
V17A |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Polg |
A |
G |
7: 79,101,470 (GRCm39) |
V1079A |
probably damaging |
Het |
| Polr2a |
G |
T |
11: 69,638,107 (GRCm39) |
|
probably null |
Het |
| Ptk2 |
C |
T |
15: 73,108,065 (GRCm39) |
S722N |
probably damaging |
Het |
| Rock2 |
A |
G |
12: 17,025,508 (GRCm39) |
D1243G |
probably benign |
Het |
| Slc35d1 |
T |
C |
4: 103,042,085 (GRCm39) |
Y249C |
probably damaging |
Het |
| Snrnp27 |
A |
T |
6: 86,659,968 (GRCm39) |
|
probably null |
Het |
| Srek1 |
T |
C |
13: 103,881,443 (GRCm39) |
|
probably null |
Het |
| Sspo |
A |
T |
6: 48,454,516 (GRCm39) |
I2951F |
probably benign |
Het |
| Stxbp3 |
A |
G |
3: 108,734,405 (GRCm39) |
F40L |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,778,921 (GRCm39) |
V604A |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,104,510 (GRCm39) |
Y544C |
probably damaging |
Het |
| Tnpo2 |
C |
T |
8: 85,778,347 (GRCm39) |
T592I |
possibly damaging |
Het |
| Txndc16 |
T |
C |
14: 45,388,941 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
T |
15: 38,045,964 (GRCm39) |
L120Q |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,847,844 (GRCm39) |
M836K |
probably damaging |
Het |
| Wdr48 |
A |
G |
9: 119,741,479 (GRCm39) |
N141S |
probably benign |
Het |
| Zc3h7a |
A |
T |
16: 10,980,528 (GRCm39) |
Y28* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,508,304 (GRCm39) |
D659G |
possibly damaging |
Het |
|
| Other mutations in Sirt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00844:Sirt4
|
APN |
5 |
115,617,685 (GRCm39) |
splice site |
probably null |
|
|
IGL02475:Sirt4
|
APN |
5 |
115,621,055 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0743:Sirt4
|
UTSW |
5 |
115,621,014 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2136:Sirt4
|
UTSW |
5 |
115,617,760 (GRCm39) |
missense |
probably benign |
0.35 |
|
R3792:Sirt4
|
UTSW |
5 |
115,618,351 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3793:Sirt4
|
UTSW |
5 |
115,618,351 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4791:Sirt4
|
UTSW |
5 |
115,618,373 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4810:Sirt4
|
UTSW |
5 |
115,618,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4818:Sirt4
|
UTSW |
5 |
115,617,785 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4983:Sirt4
|
UTSW |
5 |
115,620,850 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5726:Sirt4
|
UTSW |
5 |
115,617,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6402:Sirt4
|
UTSW |
5 |
115,618,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7238:Sirt4
|
UTSW |
5 |
115,621,049 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7799:Sirt4
|
UTSW |
5 |
115,617,805 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8171:Sirt4
|
UTSW |
5 |
115,621,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8865:Sirt4
|
UTSW |
5 |
115,620,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9226:Sirt4
|
UTSW |
5 |
115,618,372 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2016-08-02 |
Incidental Mutation