Incidental Mutation 'IGL01092:Sdhb'
ID |
50884 |
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 # |
IGL01092
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
140688582-140706509 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 140704791 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 251
(C251G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010007
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010007]
|
AlphaFold |
Q9CQA3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000010007
AA Change: C251G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000010007 Gene: ENSMUSG00000009863 AA Change: C251G
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap33 |
T |
C |
7: 30,229,371 (GRCm39) |
R335G |
probably damaging |
Het |
Atad2b |
C |
T |
12: 5,067,987 (GRCm39) |
S995L |
probably damaging |
Het |
Atrn |
A |
T |
2: 130,789,556 (GRCm39) |
R340* |
probably null |
Het |
Ccdc83 |
A |
T |
7: 89,896,313 (GRCm39) |
D85E |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,091,434 (GRCm39) |
H1602Q |
possibly damaging |
Het |
Cog2 |
A |
G |
8: 125,272,019 (GRCm39) |
D511G |
probably damaging |
Het |
Col4a4 |
G |
T |
1: 82,444,266 (GRCm39) |
P1334T |
unknown |
Het |
Creb3l4 |
T |
C |
3: 90,145,045 (GRCm39) |
E369G |
probably damaging |
Het |
Crnkl1 |
T |
C |
2: 145,761,868 (GRCm39) |
K563R |
probably benign |
Het |
Dbi |
T |
C |
1: 120,041,207 (GRCm39) |
K131E |
probably benign |
Het |
Edn1 |
A |
G |
13: 42,457,147 (GRCm39) |
D60G |
probably damaging |
Het |
Erbin |
T |
C |
13: 103,970,520 (GRCm39) |
N1032S |
probably damaging |
Het |
Ero1a |
T |
C |
14: 45,541,043 (GRCm39) |
D107G |
probably benign |
Het |
Glmn |
A |
T |
5: 107,726,378 (GRCm39) |
|
probably null |
Het |
Grxcr1 |
T |
C |
5: 68,267,905 (GRCm39) |
|
probably benign |
Het |
Itih3 |
T |
A |
14: 30,631,738 (GRCm39) |
K593I |
probably damaging |
Het |
Kmt2b |
T |
C |
7: 30,279,932 (GRCm39) |
Y1356C |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,640,959 (GRCm39) |
C3495Y |
probably damaging |
Het |
Map3k13 |
A |
T |
16: 21,746,766 (GRCm39) |
T950S |
probably damaging |
Het |
Me1 |
A |
T |
9: 86,480,801 (GRCm39) |
V348D |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,634,042 (GRCm39) |
V718A |
probably benign |
Het |
Myh7 |
T |
C |
14: 55,209,089 (GRCm39) |
E1883G |
possibly damaging |
Het |
Or10ak14 |
T |
A |
4: 118,610,959 (GRCm39) |
I259F |
possibly damaging |
Het |
Or8b49 |
T |
G |
9: 38,506,201 (GRCm39) |
I228R |
probably damaging |
Het |
Pdcd6ip |
A |
G |
9: 113,509,249 (GRCm39) |
|
probably benign |
Het |
Plcb3 |
T |
A |
19: 6,932,690 (GRCm39) |
E1025V |
probably benign |
Het |
Ppp1r26 |
C |
T |
2: 28,343,872 (GRCm39) |
|
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,430,298 (GRCm39) |
|
probably benign |
Het |
Rwdd4a |
C |
T |
8: 47,997,147 (GRCm39) |
T122M |
possibly damaging |
Het |
Siglec1 |
A |
T |
2: 130,921,137 (GRCm39) |
I678N |
probably damaging |
Het |
Snrnp70 |
T |
C |
7: 45,026,801 (GRCm39) |
D215G |
probably damaging |
Het |
Ston1 |
A |
G |
17: 88,951,871 (GRCm39) |
E674G |
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,920,879 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
A |
T |
17: 24,924,226 (GRCm39) |
I177N |
probably damaging |
Het |
Tnrc6c |
T |
C |
11: 117,612,811 (GRCm39) |
V483A |
probably damaging |
Het |
|
Other mutations in Sdhb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01542:Sdhb
|
APN |
4 |
140,700,278 (GRCm39) |
missense |
probably benign |
|
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 |
2013-06-21 |