Incidental Mutation 'R0021:Siah2'
ID |
218429 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Siah2
|
Ensembl Gene |
ENSMUSG00000036432 |
Gene Name |
siah E3 ubiquitin protein ligase 2 |
Synonyms |
Sinh2 |
MMRRC Submission |
038316-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0021 (G1)
|
Quality Score |
75 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
58582359-58599821 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58583713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 191
(H191R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067496
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070368]
|
AlphaFold |
Q06986 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070368
AA Change: H191R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000067496 Gene: ENSMUSG00000036432 AA Change: H191R
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
70 |
N/A |
INTRINSIC |
RING
|
81 |
115 |
6.18e-1 |
SMART |
Pfam:Sina
|
123 |
319 |
6.5e-89 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145032
|
Meta Mutation Damage Score |
0.1054 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
97% (60/62) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310016G11Rik |
A |
G |
7: 44,326,620 (GRCm39) |
|
noncoding transcript |
Het |
Abcc5 |
T |
A |
16: 20,197,411 (GRCm39) |
K647* |
probably null |
Het |
Aplp1 |
A |
G |
7: 30,135,241 (GRCm39) |
|
probably benign |
Het |
Arhgef25 |
A |
G |
10: 127,025,423 (GRCm39) |
I43T |
probably benign |
Het |
Brinp3 |
T |
G |
1: 146,777,189 (GRCm39) |
S545R |
probably benign |
Het |
Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
C5ar2 |
A |
G |
7: 15,971,601 (GRCm39) |
F109L |
probably benign |
Het |
D630045J12Rik |
G |
A |
6: 38,160,902 (GRCm39) |
Q1081* |
probably null |
Het |
Dhx36 |
T |
C |
3: 62,385,016 (GRCm39) |
I699V |
possibly damaging |
Het |
Dnah9 |
A |
G |
11: 65,860,805 (GRCm39) |
I2855T |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,140,411 (GRCm39) |
I1317T |
probably benign |
Het |
Galnt11 |
A |
T |
5: 25,453,855 (GRCm39) |
D27V |
probably damaging |
Het |
Gm5134 |
T |
A |
10: 75,829,718 (GRCm39) |
C335S |
probably damaging |
Het |
Hdhd2 |
A |
T |
18: 77,058,311 (GRCm39) |
K227N |
probably damaging |
Het |
Impg1 |
A |
T |
9: 80,317,479 (GRCm39) |
L36Q |
probably damaging |
Het |
Krtcap3 |
A |
G |
5: 31,410,303 (GRCm39) |
H227R |
probably benign |
Het |
Lrrc7 |
A |
G |
3: 157,866,298 (GRCm39) |
Y1148H |
probably damaging |
Het |
Map2k4 |
A |
G |
11: 65,603,110 (GRCm39) |
I174T |
probably damaging |
Het |
Mef2c |
C |
A |
13: 83,804,359 (GRCm39) |
L282M |
probably damaging |
Het |
Nkapd1 |
A |
C |
9: 50,521,725 (GRCm39) |
D65E |
probably damaging |
Het |
Nqo2 |
T |
C |
13: 34,165,490 (GRCm39) |
I129T |
probably benign |
Het |
Pdgfrb |
T |
A |
18: 61,197,998 (GRCm39) |
|
probably benign |
Het |
Phf7 |
C |
T |
14: 30,960,443 (GRCm39) |
|
probably benign |
Het |
Plac8 |
T |
A |
5: 100,704,434 (GRCm39) |
T88S |
probably benign |
Het |
Pou2f1 |
G |
A |
1: 165,703,587 (GRCm39) |
T654M |
probably damaging |
Het |
Ptprk |
T |
A |
10: 28,468,891 (GRCm39) |
V1425E |
probably damaging |
Het |
Saal1 |
A |
T |
7: 46,342,316 (GRCm39) |
S376T |
probably damaging |
Het |
Scart2 |
G |
A |
7: 139,876,310 (GRCm39) |
R594H |
probably benign |
Het |
Serpini1 |
T |
C |
3: 75,526,620 (GRCm39) |
Y291H |
probably damaging |
Het |
Spaca6 |
T |
A |
17: 18,058,498 (GRCm39) |
Y39* |
probably null |
Het |
Tbc1d10a |
T |
C |
11: 4,163,680 (GRCm39) |
C277R |
probably damaging |
Het |
Trim45 |
A |
T |
3: 100,832,736 (GRCm39) |
D323V |
probably damaging |
Het |
Trim55 |
A |
C |
3: 19,698,866 (GRCm39) |
M32L |
probably benign |
Het |
Unc5b |
T |
C |
10: 60,614,698 (GRCm39) |
T200A |
probably benign |
Het |
Uqcc4 |
A |
G |
17: 25,403,957 (GRCm39) |
E99G |
possibly damaging |
Het |
V1rd19 |
A |
T |
7: 23,703,029 (GRCm39) |
D165V |
probably damaging |
Het |
|
Other mutations in Siah2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02410:Siah2
|
APN |
3 |
58,583,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R0021:Siah2
|
UTSW |
3 |
58,583,713 (GRCm39) |
missense |
probably benign |
0.00 |
R0123:Siah2
|
UTSW |
3 |
58,583,536 (GRCm39) |
missense |
probably damaging |
0.98 |
R0134:Siah2
|
UTSW |
3 |
58,583,536 (GRCm39) |
missense |
probably damaging |
0.98 |
R0564:Siah2
|
UTSW |
3 |
58,583,656 (GRCm39) |
missense |
probably benign |
0.32 |
R0648:Siah2
|
UTSW |
3 |
58,583,635 (GRCm39) |
missense |
probably damaging |
0.99 |
R1164:Siah2
|
UTSW |
3 |
58,583,737 (GRCm39) |
missense |
probably benign |
0.43 |
R1387:Siah2
|
UTSW |
3 |
58,598,935 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1955:Siah2
|
UTSW |
3 |
58,583,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R3732:Siah2
|
UTSW |
3 |
58,583,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Siah2
|
UTSW |
3 |
58,583,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R3733:Siah2
|
UTSW |
3 |
58,583,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R5704:Siah2
|
UTSW |
3 |
58,583,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R6738:Siah2
|
UTSW |
3 |
58,598,974 (GRCm39) |
missense |
probably benign |
0.37 |
R6821:Siah2
|
UTSW |
3 |
58,599,191 (GRCm39) |
missense |
probably benign |
0.23 |
R8356:Siah2
|
UTSW |
3 |
58,583,503 (GRCm39) |
missense |
probably benign |
0.20 |
R8456:Siah2
|
UTSW |
3 |
58,583,503 (GRCm39) |
missense |
probably benign |
0.20 |
R9162:Siah2
|
UTSW |
3 |
58,599,104 (GRCm39) |
missense |
unknown |
|
Z1177:Siah2
|
UTSW |
3 |
58,599,041 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCCACGCCATCATGAATGGAC -3'
(R):5'- TGCATAGATGCTGGTACTGAGGAGG -3'
Sequencing Primer
(F):5'- TCTGTAGGCAAAGTTCTCAGC -3'
(R):5'- atgctggtactgAGGAGGTTTTG -3'
|
Posted On |
2014-08-08 |