Incidental Mutation 'IGL02410:Siah2'
| ID |
292251 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Siah2
|
| Ensembl Gene |
ENSMUSG00000036432 |
| Gene Name |
siah E3 ubiquitin protein ligase 2 |
| Synonyms |
Sinh2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02410
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
58582359-58599821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58583468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 273
(R273G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070368]
|
| AlphaFold |
Q06986 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070368
AA Change: R273G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067496
Gene: ENSMUSG00000036432
AA Change: R273G
| 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
|
| 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 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
G |
A |
1: 165,337,977 (GRCm39) |
C197Y |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,792,496 (GRCm39) |
|
probably null |
Het |
| Aqr |
A |
G |
2: 113,967,398 (GRCm39) |
V539A |
possibly damaging |
Het |
| Bnip3 |
C |
A |
7: 138,500,528 (GRCm39) |
G21C |
probably damaging |
Het |
| Cul1 |
T |
A |
6: 47,461,948 (GRCm39) |
M37K |
probably damaging |
Het |
| Dazl |
T |
C |
17: 50,600,426 (GRCm39) |
|
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,735,189 (GRCm39) |
T1056A |
probably benign |
Het |
| Ewsr1 |
A |
G |
11: 5,043,863 (GRCm39) |
|
probably benign |
Het |
| Fam167b |
G |
A |
4: 129,472,011 (GRCm39) |
A53V |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,909,141 (GRCm39) |
Y2287C |
probably damaging |
Het |
| H2-M10.3 |
A |
T |
17: 36,677,428 (GRCm39) |
H283Q |
probably damaging |
Het |
| Hectd2 |
C |
T |
19: 36,572,613 (GRCm39) |
R39* |
probably null |
Het |
| Hnrnph3 |
A |
G |
10: 62,851,503 (GRCm39) |
|
probably benign |
Het |
| Hps4 |
T |
C |
5: 112,518,093 (GRCm39) |
V362A |
probably benign |
Het |
| Igkv9-120 |
A |
C |
6: 68,027,027 (GRCm39) |
|
probably benign |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,795,977 (GRCm39) |
T417A |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,490,648 (GRCm39) |
V1307A |
probably benign |
Het |
| Mpdz |
T |
C |
4: 81,215,730 (GRCm39) |
E1511G |
probably benign |
Het |
| Nprl3 |
A |
T |
11: 32,217,539 (GRCm39) |
M1K |
probably null |
Het |
| Or9i2 |
A |
G |
19: 13,816,495 (GRCm39) |
I14T |
probably benign |
Het |
| Ppp1r15a |
A |
G |
7: 45,173,479 (GRCm39) |
V443A |
probably damaging |
Het |
| Psmd1 |
T |
G |
1: 86,005,159 (GRCm39) |
L198V |
probably damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,056,938 (GRCm39) |
I566F |
possibly damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,865,269 (GRCm39) |
D719E |
probably damaging |
Het |
| Siglecg |
C |
T |
7: 43,058,253 (GRCm39) |
P47S |
probably damaging |
Het |
| Sox6 |
A |
G |
7: 115,085,979 (GRCm39) |
S621P |
probably damaging |
Het |
| Spata31e5 |
A |
G |
1: 28,817,712 (GRCm39) |
S107P |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,555,278 (GRCm39) |
A30576S |
probably benign |
Het |
| Ttyh1 |
A |
G |
7: 4,136,898 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,648,194 (GRCm39) |
R4600C |
probably damaging |
Het |
| Usp36 |
C |
T |
11: 118,167,011 (GRCm39) |
V289M |
probably damaging |
Het |
|
| Other mutations in Siah2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0021:Siah2
|
UTSW |
3 |
58,583,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation