Incidental Mutation 'R1070:Sdhb'
| ID |
86158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdhb
|
| Ensembl Gene |
ENSMUSG00000009863 |
| Gene Name |
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
| Synonyms |
0710008N11Rik |
| MMRRC Submission |
039156-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1070 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140688582-140706509 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 140698547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010007]
|
| AlphaFold |
Q9CQA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010007
|
| SMART Domains |
Protein: ENSMUSP00000010007
Gene: ENSMUSG00000009863
| 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 |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,520,263 (GRCm39) |
D1367G |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,053,491 (GRCm39) |
|
probably benign |
Het |
| Agtr1b |
A |
T |
3: 20,369,912 (GRCm39) |
N231K |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,517,009 (GRCm39) |
S517P |
probably benign |
Het |
| Blzf1 |
A |
G |
1: 164,131,499 (GRCm39) |
|
probably benign |
Het |
| Bptf |
G |
T |
11: 106,945,881 (GRCm39) |
Q2453K |
possibly damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Heatr4 |
T |
C |
12: 84,024,841 (GRCm39) |
T327A |
possibly damaging |
Het |
| Hes1 |
T |
C |
16: 29,886,101 (GRCm39) |
I235T |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,565,341 (GRCm39) |
D2262V |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,610 (GRCm39) |
A255V |
probably damaging |
Het |
| Inhbe |
T |
C |
10: 127,187,382 (GRCm39) |
I11M |
probably benign |
Het |
| Ipo9 |
T |
C |
1: 135,334,281 (GRCm39) |
E315G |
possibly damaging |
Het |
| Itih1 |
G |
T |
14: 30,664,413 (GRCm39) |
|
probably benign |
Het |
| Kcnk2 |
A |
G |
1: 188,988,960 (GRCm39) |
|
probably benign |
Het |
| Kdm4c |
T |
A |
4: 74,291,865 (GRCm39) |
Y827* |
probably null |
Het |
| Kif5a |
T |
C |
10: 127,081,275 (GRCm39) |
T220A |
probably benign |
Het |
| Krt78 |
A |
G |
15: 101,854,728 (GRCm39) |
Y1028H |
possibly damaging |
Het |
| Ldc1 |
T |
C |
4: 130,112,949 (GRCm39) |
E149G |
probably benign |
Het |
| Mylk4 |
T |
C |
13: 32,908,801 (GRCm39) |
D333G |
probably benign |
Het |
| Net1 |
A |
T |
13: 3,962,930 (GRCm39) |
S45T |
probably benign |
Het |
| Npat |
T |
A |
9: 53,483,892 (GRCm39) |
F1403I |
probably damaging |
Het |
| Or5h25 |
A |
G |
16: 58,930,182 (GRCm39) |
S264P |
probably benign |
Het |
| Or5p57 |
T |
C |
7: 107,665,858 (GRCm39) |
D49G |
probably benign |
Het |
| Or7a35 |
C |
T |
10: 78,853,684 (GRCm39) |
P176L |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,731,058 (GRCm39) |
Y404H |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,390,052 (GRCm39) |
|
probably null |
Het |
| Rab3a |
A |
G |
8: 71,209,840 (GRCm39) |
N40S |
probably damaging |
Het |
| Raf1 |
T |
C |
6: 115,614,660 (GRCm39) |
N74D |
probably benign |
Het |
| Rap1gap2 |
A |
G |
11: 74,327,853 (GRCm39) |
V139A |
possibly damaging |
Het |
| Rdh12 |
T |
C |
12: 79,260,522 (GRCm39) |
L206P |
probably damaging |
Het |
| Rimoc1 |
C |
A |
15: 4,015,848 (GRCm39) |
V239F |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,724 (GRCm39) |
E102G |
possibly damaging |
Het |
| Sult2a8 |
T |
A |
7: 14,147,698 (GRCm39) |
I198F |
probably damaging |
Het |
| Tars3 |
T |
C |
7: 65,305,444 (GRCm39) |
S223P |
probably damaging |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Vcam1 |
C |
T |
3: 115,904,552 (GRCm39) |
V732M |
possibly damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,681 (GRCm39) |
Y458H |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACAGTGGTGAAGCCAGATGC -3'
(R):5'- TCCCCAGGGGAAATCAGAACTTGC -3'
Sequencing Primer
(F):5'- GAGTTCTTTTCTCCATCAGGTGC -3'
(R):5'- gtgtggggagtggaggg -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation