Incidental Mutation 'R6426:Sdhb'
| ID |
518320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdhb
|
| Ensembl Gene |
ENSMUSG00000009863 |
| Gene Name |
succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
| Synonyms |
0710008N11Rik |
| MMRRC Submission |
044565-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6426 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
140688582-140706509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140701029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 162
(K162E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010007
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010007]
|
| AlphaFold |
Q9CQA3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010007
AA Change: K162E
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000010007
Gene: ENSMUSG00000009863
AA Change: K162E
| 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
|
| Meta Mutation Damage Score |
0.0803 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.5%
|
| Validation Efficiency |
100% (34/34) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Adcyap1r1 |
T |
G |
6: 55,471,172 (GRCm39) |
L365R |
probably damaging |
Het |
| Adgre4 |
A |
G |
17: 56,109,196 (GRCm39) |
N401S |
probably benign |
Het |
| Adgrl3 |
A |
T |
5: 81,874,717 (GRCm39) |
S1073C |
probably damaging |
Het |
| Bicral |
G |
A |
17: 47,141,005 (GRCm39) |
P26S |
probably benign |
Het |
| Cst3 |
G |
T |
2: 148,713,917 (GRCm39) |
T129K |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,753 (GRCm39) |
M287T |
probably benign |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,997,645 (GRCm39) |
V611A |
probably damaging |
Het |
| Fam149a |
C |
A |
8: 45,834,611 (GRCm39) |
A63S |
probably benign |
Het |
| Fhip2a |
T |
G |
19: 57,371,610 (GRCm39) |
L574R |
probably damaging |
Het |
| Foxred2 |
C |
G |
15: 77,837,508 (GRCm39) |
A243P |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,517,436 (GRCm39) |
D307E |
probably damaging |
Het |
| Lca5 |
G |
A |
9: 83,277,707 (GRCm39) |
Q546* |
probably null |
Het |
| Mfsd4b1 |
T |
C |
10: 39,882,073 (GRCm39) |
T71A |
possibly damaging |
Het |
| Onecut1 |
A |
G |
9: 74,769,631 (GRCm39) |
H18R |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,212 (GRCm39) |
V288A |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Pcsk5 |
G |
T |
19: 17,595,093 (GRCm39) |
Q414K |
probably damaging |
Het |
| Ppp4r2 |
T |
C |
6: 100,829,558 (GRCm39) |
Y77H |
probably damaging |
Het |
| Prr19 |
A |
G |
7: 25,003,262 (GRCm39) |
D292G |
probably damaging |
Het |
| Pum1 |
G |
A |
4: 130,481,283 (GRCm39) |
R464H |
probably damaging |
Het |
| Rhoq |
G |
T |
17: 87,302,442 (GRCm39) |
R126L |
probably damaging |
Het |
| Sema3d |
G |
A |
5: 12,613,231 (GRCm39) |
G436E |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,038,814 (GRCm39) |
M823K |
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Syne2 |
G |
T |
12: 75,969,857 (GRCm39) |
E977D |
probably null |
Het |
| Tns2 |
A |
T |
15: 102,015,472 (GRCm39) |
M125L |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,542,313 (GRCm39) |
K31812* |
probably null |
Het |
| Ube4b |
G |
A |
4: 149,510,453 (GRCm39) |
|
probably benign |
Het |
| Vmn2r91 |
G |
A |
17: 18,355,865 (GRCm39) |
|
probably null |
Het |
| Zbtb49 |
G |
A |
5: 38,360,431 (GRCm39) |
|
probably null |
Het |
| Zswim8 |
T |
A |
14: 20,768,594 (GRCm39) |
S1035T |
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 |
|
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 |
|
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'- TTCCCAGCTCTGTGGCTAAC -3'
(R):5'- CCCAATTTCTTTCAGAGCACG -3'
Sequencing Primer
(F):5'- TTGTCACAGCCTCTGAAGAG -3'
(R):5'- CCCAATTTCTTTCAGAGCACGATTAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation