Incidental Mutation 'R5432:Sdha'
| ID |
428114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdha
|
| Ensembl Gene |
ENSMUSG00000021577 |
| Gene Name |
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
| Synonyms |
FP, SDHF, 2310034D06Rik, SDH2 |
| MMRRC Submission |
042997-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5432 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
74470374-74498359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 74475068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 591
(A591D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022062]
|
| AlphaFold |
Q8K2B3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022062
AA Change: A591D
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022062
Gene: ENSMUSG00000021577
AA Change: A591D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_2
|
63 |
457 |
1.2e-128 |
PFAM |
|
Pfam:Succ_DH_flav_C
|
512 |
664 |
3.4e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160900
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161434
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221594
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
G |
A |
9: 4,309,349 (GRCm39) |
R30* |
probably null |
Het |
| Abca9 |
G |
A |
11: 110,032,380 (GRCm39) |
R746W |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,252,578 (GRCm39) |
E236G |
probably damaging |
Het |
| Asb4 |
A |
C |
6: 5,430,912 (GRCm39) |
R382S |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,178,814 (GRCm39) |
S2458P |
probably benign |
Het |
| Bspry |
T |
C |
4: 62,400,952 (GRCm39) |
V148A |
probably benign |
Het |
| Cacna2d3 |
A |
C |
14: 28,665,512 (GRCm39) |
|
probably null |
Het |
| Cblb |
T |
A |
16: 51,963,228 (GRCm39) |
H390Q |
probably damaging |
Het |
| Cct8l1 |
T |
C |
5: 25,721,305 (GRCm39) |
S7P |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,262,991 (GRCm39) |
T191A |
possibly damaging |
Het |
| Cts8 |
A |
C |
13: 61,398,826 (GRCm39) |
F227V |
probably benign |
Het |
| Elac1 |
T |
C |
18: 73,875,864 (GRCm39) |
T56A |
possibly damaging |
Het |
| Fjx1 |
T |
C |
2: 102,280,864 (GRCm39) |
N357S |
possibly damaging |
Het |
| Gm5414 |
T |
C |
15: 101,533,069 (GRCm39) |
T453A |
probably damaging |
Het |
| Hcls1 |
G |
A |
16: 36,781,910 (GRCm39) |
E340K |
probably benign |
Het |
| Hrc |
C |
A |
7: 44,986,285 (GRCm39) |
H479N |
possibly damaging |
Het |
| Ikzf4 |
A |
G |
10: 128,470,047 (GRCm39) |
V491A |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 33,873,992 (GRCm39) |
S138P |
probably damaging |
Het |
| Lama3 |
G |
T |
18: 12,705,123 (GRCm39) |
D3062Y |
probably damaging |
Het |
| Lcor |
A |
G |
19: 41,573,042 (GRCm39) |
E599G |
probably damaging |
Het |
| Llgl1 |
T |
C |
11: 60,598,449 (GRCm39) |
S442P |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,353,129 (GRCm39) |
K1517* |
probably null |
Het |
| Myo9a |
A |
T |
9: 59,772,953 (GRCm39) |
Y995F |
possibly damaging |
Het |
| Nek3 |
A |
C |
8: 22,638,748 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
G |
14: 56,101,923 (GRCm39) |
T531A |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2m12 |
A |
T |
16: 19,104,839 (GRCm39) |
I218N |
probably benign |
Het |
| Pdia4 |
A |
G |
6: 47,775,400 (GRCm39) |
V470A |
possibly damaging |
Het |
| Pinlyp |
T |
C |
7: 24,241,892 (GRCm39) |
D105G |
probably damaging |
Het |
| Pla2g6 |
A |
G |
15: 79,186,817 (GRCm39) |
|
probably null |
Het |
| Plpp7 |
A |
G |
2: 31,985,932 (GRCm39) |
S37G |
probably benign |
Het |
| Prdm11 |
G |
T |
2: 92,806,158 (GRCm39) |
P264Q |
probably benign |
Het |
| Rbl2 |
G |
T |
8: 91,828,911 (GRCm39) |
R604L |
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,500,584 (GRCm39) |
T115A |
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,311,519 (GRCm39) |
Q279R |
probably benign |
Het |
| Secisbp2 |
AAGCAGCAGCAGCAGCAGCA |
AAGCAGCAGCAGCAGCA |
13: 51,828,002 (GRCm39) |
|
probably benign |
Het |
| Sephs2 |
G |
A |
7: 126,872,977 (GRCm39) |
R39W |
probably damaging |
Het |
| Serpina3f |
T |
C |
12: 104,186,577 (GRCm39) |
I381T |
possibly damaging |
Het |
| Shd |
A |
T |
17: 56,283,214 (GRCm39) |
Q281L |
probably damaging |
Het |
| Sik3 |
A |
G |
9: 46,034,539 (GRCm39) |
S98G |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,705,728 (GRCm39) |
N232I |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,945,164 (GRCm39) |
N246Y |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,368,022 (GRCm39) |
|
probably null |
Het |
| Vwde |
A |
G |
6: 13,190,591 (GRCm39) |
M500T |
probably damaging |
Het |
| Wdr72 |
T |
G |
9: 74,183,228 (GRCm39) |
S1053R |
probably damaging |
Het |
| Yif1b |
T |
C |
7: 28,945,393 (GRCm39) |
C192R |
probably damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,568,687 (GRCm39) |
S1327G |
probably damaging |
Het |
| Zfp1004 |
A |
G |
2: 150,033,901 (GRCm39) |
N74S |
possibly damaging |
Het |
|
| Other mutations in Sdha |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0270:Sdha
|
UTSW |
13 |
74,480,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Sdha
|
UTSW |
13 |
74,475,452 (GRCm39) |
missense |
probably benign |
0.36 |
|
R0960:Sdha
|
UTSW |
13 |
74,471,303 (GRCm39) |
splice site |
probably benign |
|
|
R1883:Sdha
|
UTSW |
13 |
74,481,255 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1884:Sdha
|
UTSW |
13 |
74,481,255 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2068:Sdha
|
UTSW |
13 |
74,472,087 (GRCm39) |
splice site |
probably null |
|
|
R3881:Sdha
|
UTSW |
13 |
74,487,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3894:Sdha
|
UTSW |
13 |
74,482,510 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4063:Sdha
|
UTSW |
13 |
74,472,077 (GRCm39) |
intron |
probably benign |
|
|
R4384:Sdha
|
UTSW |
13 |
74,475,104 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5046:Sdha
|
UTSW |
13 |
74,475,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5521:Sdha
|
UTSW |
13 |
74,498,218 (GRCm39) |
intron |
probably benign |
|
|
R5645:Sdha
|
UTSW |
13 |
74,471,958 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5770:Sdha
|
UTSW |
13 |
74,471,239 (GRCm39) |
nonsense |
probably null |
|
|
R5797:Sdha
|
UTSW |
13 |
74,482,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5920:Sdha
|
UTSW |
13 |
74,475,044 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6450:Sdha
|
UTSW |
13 |
74,482,412 (GRCm39) |
splice site |
probably null |
|
|
R7677:Sdha
|
UTSW |
13 |
74,481,172 (GRCm39) |
nonsense |
probably null |
|
|
R7793:Sdha
|
UTSW |
13 |
74,479,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8284:Sdha
|
UTSW |
13 |
74,479,416 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8912:Sdha
|
UTSW |
13 |
74,475,323 (GRCm39) |
intron |
probably benign |
|
|
R8923:Sdha
|
UTSW |
13 |
74,487,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9256:Sdha
|
UTSW |
13 |
74,475,483 (GRCm39) |
intron |
probably benign |
|
|
R9281:Sdha
|
UTSW |
13 |
74,472,056 (GRCm39) |
nonsense |
probably null |
|
|
R9296:Sdha
|
UTSW |
13 |
74,472,062 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Sdha
|
UTSW |
13 |
74,498,312 (GRCm39) |
missense |
unknown |
|
|
Z1177:Sdha
|
UTSW |
13 |
74,487,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGTTCTGCTTGCAAATGC -3'
(R):5'- GTTGCTTTATGTCCAGAGTACCTAC -3'
Sequencing Primer
(F):5'- AATGCTGCACGGGCTAACTC -3'
(R):5'- TGTCCAGAGTACCTACATGACTGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation