Incidental Mutation 'IGL01542:Sdhb'
ID |
90189 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sdhb
|
Ensembl Gene |
ENSMUSG00000009863 |
Gene Name |
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
Synonyms |
0710008N11Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01542
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
140688582-140706509 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 140700278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 126
(V126A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010007]
|
AlphaFold |
Q9CQA3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010007
AA Change: V126A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000010007 Gene: ENSMUSG00000009863 AA Change: V126A
Domain | Start | End | E-Value | Type |
Pfam:Fer2_3
|
43 |
150 |
5e-36 |
PFAM |
Pfam:Fer4_8
|
185 |
259 |
2.2e-9 |
PFAM |
Pfam:Fer4_17
|
187 |
260 |
1.8e-11 |
PFAM |
Pfam:Fer4_18
|
193 |
262 |
1e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125780
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129181
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008] PHENOTYPE: The gene is involved in the hypoxia-induced RNA editing pathway in monocytes. Heterozygous compound KOs show reduced increase in blood hemoglobin under hypoxic conditions. Homozygous inactivation of this gene results in complete embryonic lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
Arhgap20 |
A |
G |
9: 51,750,187 (GRCm39) |
M316V |
probably benign |
Het |
Chd7 |
T |
G |
4: 8,859,285 (GRCm39) |
N2458K |
possibly damaging |
Het |
Clock |
T |
C |
5: 76,379,322 (GRCm39) |
E538G |
possibly damaging |
Het |
Clpb |
G |
A |
7: 101,436,712 (GRCm39) |
V596I |
probably damaging |
Het |
Col9a3 |
T |
C |
2: 180,251,109 (GRCm39) |
|
probably benign |
Het |
D130043K22Rik |
G |
A |
13: 25,060,020 (GRCm39) |
|
probably null |
Het |
Drd4 |
T |
C |
7: 140,873,744 (GRCm39) |
|
probably benign |
Het |
Fam228b |
A |
T |
12: 4,813,055 (GRCm39) |
I105N |
probably damaging |
Het |
Gm20939 |
A |
T |
17: 95,181,721 (GRCm39) |
|
probably benign |
Het |
Gm4952 |
A |
G |
19: 12,595,771 (GRCm39) |
T54A |
possibly damaging |
Het |
Hbs1l |
T |
C |
10: 21,183,655 (GRCm39) |
V132A |
probably benign |
Het |
Kpna2 |
T |
A |
11: 106,882,027 (GRCm39) |
E266D |
probably benign |
Het |
Lars1 |
T |
C |
18: 42,347,892 (GRCm39) |
E977G |
probably benign |
Het |
Lrrn4 |
T |
C |
2: 132,721,392 (GRCm39) |
T142A |
probably benign |
Het |
Myo19 |
T |
C |
11: 84,800,372 (GRCm39) |
L919P |
probably damaging |
Het |
Nhlrc1 |
A |
T |
13: 47,167,607 (GRCm39) |
F217I |
probably damaging |
Het |
Or10q12 |
T |
C |
19: 13,745,901 (GRCm39) |
F65S |
probably damaging |
Het |
Plch1 |
T |
C |
3: 63,639,070 (GRCm39) |
I468V |
probably damaging |
Het |
Rergl |
T |
A |
6: 139,470,496 (GRCm39) |
|
probably null |
Het |
Sctr |
A |
G |
1: 119,972,499 (GRCm39) |
|
probably benign |
Het |
Smad3 |
C |
T |
9: 63,562,868 (GRCm39) |
R214Q |
probably damaging |
Het |
Spmip3 |
A |
G |
1: 177,570,950 (GRCm39) |
T95A |
possibly damaging |
Het |
Tdrd9 |
T |
C |
12: 112,013,423 (GRCm39) |
M1219T |
possibly damaging |
Het |
Tmem167b |
A |
T |
3: 108,466,222 (GRCm39) |
N75K |
possibly damaging |
Het |
Vmn2r83 |
T |
C |
10: 79,314,846 (GRCm39) |
S365P |
probably benign |
Het |
Vps16 |
T |
C |
2: 130,280,314 (GRCm39) |
F153L |
probably damaging |
Het |
|
Other mutations in Sdhb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01092:Sdhb
|
APN |
4 |
140,704,791 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01790:Sdhb
|
APN |
4 |
140,701,038 (GRCm39) |
missense |
probably benign |
|
IGL03003:Sdhb
|
APN |
4 |
140,700,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R1070:Sdhb
|
UTSW |
4 |
140,698,547 (GRCm39) |
splice site |
probably benign |
|
R1971:Sdhb
|
UTSW |
4 |
140,700,260 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2008:Sdhb
|
UTSW |
4 |
140,706,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R2358:Sdhb
|
UTSW |
4 |
140,700,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R3821:Sdhb
|
UTSW |
4 |
140,706,399 (GRCm39) |
nonsense |
probably null |
|
R4202:Sdhb
|
UTSW |
4 |
140,706,379 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4611:Sdhb
|
UTSW |
4 |
140,700,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R4782:Sdhb
|
UTSW |
4 |
140,704,777 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4799:Sdhb
|
UTSW |
4 |
140,704,777 (GRCm39) |
missense |
possibly damaging |
0.59 |
R6235:Sdhb
|
UTSW |
4 |
140,700,984 (GRCm39) |
missense |
probably damaging |
0.98 |
R6426:Sdhb
|
UTSW |
4 |
140,701,029 (GRCm39) |
missense |
probably benign |
0.01 |
R6768:Sdhb
|
UTSW |
4 |
140,706,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R6787:Sdhb
|
UTSW |
4 |
140,703,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R7255:Sdhb
|
UTSW |
4 |
140,704,729 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7520:Sdhb
|
UTSW |
4 |
140,693,882 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9335:Sdhb
|
UTSW |
4 |
140,700,250 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-12-03 |