Incidental Mutation 'R3894:Sdha'
| ID |
310465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sdha
|
| Ensembl Gene |
ENSMUSG00000021577 |
| Gene Name |
succinate dehydrogenase complex, subunit A, flavoprotein (Fp) |
| Synonyms |
FP, SDHF, 2310034D06Rik, SDH2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3894 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
74470374-74498359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74482510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 268
(S268T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022062]
|
| AlphaFold |
Q8K2B3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022062
AA Change: S268T
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000022062
Gene: ENSMUSG00000021577
AA Change: S268T
| 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: ENSMUST00000160667
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161086
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221594
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt1s1 |
A |
G |
7: 44,503,363 (GRCm39) |
D180G |
probably damaging |
Het |
| Aldh1a7 |
A |
T |
19: 20,673,762 (GRCm39) |
Y457* |
probably null |
Het |
| Alpk3 |
C |
T |
7: 80,728,138 (GRCm39) |
P423S |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,373,837 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,913,966 (GRCm39) |
T1316A |
probably benign |
Het |
| Cul3 |
C |
A |
1: 80,261,407 (GRCm39) |
V273F |
probably damaging |
Het |
| Dnah1 |
G |
T |
14: 31,028,985 (GRCm39) |
R582S |
probably benign |
Het |
| Fbxl2 |
T |
C |
9: 113,832,261 (GRCm39) |
N51S |
probably damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,618,488 (GRCm39) |
D295G |
probably benign |
Het |
| Gdf7 |
A |
G |
12: 8,348,845 (GRCm39) |
S151P |
unknown |
Het |
| Gm10277 |
T |
C |
11: 77,676,827 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,898,690 (GRCm39) |
E688G |
possibly damaging |
Het |
| Htr1d |
A |
G |
4: 136,170,548 (GRCm39) |
E259G |
probably benign |
Het |
| Ifi204 |
T |
C |
1: 173,576,774 (GRCm39) |
H609R |
possibly damaging |
Het |
| Ift80 |
T |
C |
3: 68,825,332 (GRCm39) |
D541G |
probably damaging |
Het |
| Il18r1 |
A |
T |
1: 40,514,034 (GRCm39) |
H80L |
possibly damaging |
Het |
| Lrp4 |
G |
A |
2: 91,304,294 (GRCm39) |
G158S |
probably damaging |
Het |
| Mesd |
T |
A |
7: 83,546,993 (GRCm39) |
L152H |
probably damaging |
Het |
| Mmut |
G |
A |
17: 41,266,030 (GRCm39) |
C531Y |
probably damaging |
Het |
| Morf4l1 |
A |
T |
9: 89,976,501 (GRCm39) |
F276I |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,395,145 (GRCm39) |
T2480A |
probably benign |
Het |
| Or2a52 |
A |
T |
6: 43,144,192 (GRCm39) |
I67F |
probably benign |
Het |
| Or2y15 |
G |
A |
11: 49,350,766 (GRCm39) |
G87R |
possibly damaging |
Het |
| Or4f47 |
T |
C |
2: 111,972,359 (GRCm39) |
I23T |
probably benign |
Het |
| Or4g17 |
C |
A |
2: 111,209,982 (GRCm39) |
F212L |
probably benign |
Het |
| Or5k16 |
A |
G |
16: 58,736,702 (GRCm39) |
F101L |
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
| Pcbp4 |
A |
T |
9: 106,338,570 (GRCm39) |
Q59L |
possibly damaging |
Het |
| Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
T |
A |
11: 53,569,697 (GRCm39) |
I905L |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,266,756 (GRCm39) |
S781P |
probably benign |
Het |
| Rps3 |
C |
T |
7: 99,129,103 (GRCm39) |
R173H |
probably benign |
Het |
| Rtn3 |
T |
A |
19: 7,412,450 (GRCm39) |
T86S |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 64,381,767 (GRCm39) |
V355E |
possibly damaging |
Het |
| Sh3glb2 |
T |
C |
2: 30,245,300 (GRCm39) |
T60A |
probably damaging |
Het |
| Slc26a3 |
A |
C |
12: 31,514,719 (GRCm39) |
Y513S |
probably damaging |
Het |
| Slc35b2 |
T |
C |
17: 45,877,368 (GRCm39) |
V165A |
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 73,934,361 (GRCm39) |
W604R |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,175,238 (GRCm39) |
S1370P |
possibly damaging |
Het |
| Tmtc4 |
A |
T |
14: 123,158,731 (GRCm39) |
|
probably null |
Het |
| Tsga13 |
A |
G |
6: 30,889,198 (GRCm39) |
V18A |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,477,449 (GRCm39) |
T317A |
probably benign |
Het |
| Zcchc4 |
A |
T |
5: 52,941,442 (GRCm39) |
D79V |
probably 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 |
|
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 |
|
R5432:Sdha
|
UTSW |
13 |
74,475,068 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- AGAAACTCCCTGAGGACTCAAG -3'
(R):5'- CATCACAAGTATGGCCTCCC -3'
Sequencing Primer
(F):5'- TCCCTGAGGACTCAAGGTGGAG -3'
(R):5'- ACAAGTATGGCCTCCCACGTATTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation