Incidental Mutation 'R5046:Sdha'
ID |
394392 |
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 |
042636-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5046 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
74470374-74498359 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74475452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 526
(F526S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022062
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022062]
|
AlphaFold |
Q8K2B3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022062
AA Change: F526S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022062 Gene: ENSMUSG00000021577 AA Change: F526S
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
|
Meta Mutation Damage Score |
0.9517 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
100% (52/52) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
C |
A |
7: 119,302,597 (GRCm39) |
H241N |
probably damaging |
Het |
Arhgap32 |
G |
A |
9: 32,168,095 (GRCm39) |
A693T |
probably damaging |
Het |
B4galnt3 |
G |
T |
6: 120,191,759 (GRCm39) |
A658D |
probably damaging |
Het |
Car12 |
G |
A |
9: 66,653,895 (GRCm39) |
E84K |
probably benign |
Het |
Crocc2 |
T |
A |
1: 93,133,624 (GRCm39) |
S969T |
probably damaging |
Het |
Crym |
A |
G |
7: 119,794,667 (GRCm39) |
V184A |
possibly damaging |
Het |
Cryzl2 |
T |
C |
1: 157,292,583 (GRCm39) |
C122R |
probably damaging |
Het |
Defb30 |
T |
C |
14: 63,273,463 (GRCm39) |
E49G |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,550,803 (GRCm39) |
L3161P |
probably damaging |
Het |
Dnajc5g |
A |
G |
5: 31,267,036 (GRCm39) |
N104S |
probably benign |
Het |
Fcgr1 |
T |
G |
3: 96,194,302 (GRCm39) |
K195T |
probably damaging |
Het |
Gal |
C |
T |
19: 3,461,167 (GRCm39) |
R89H |
probably damaging |
Het |
Gcfc2 |
C |
T |
6: 81,925,316 (GRCm39) |
A577V |
probably benign |
Het |
Gm5116 |
A |
C |
7: 32,195,379 (GRCm39) |
|
noncoding transcript |
Het |
Golga3 |
A |
T |
5: 110,340,806 (GRCm39) |
Q540L |
probably damaging |
Het |
Hectd1 |
T |
C |
12: 51,797,171 (GRCm39) |
E2184G |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,787,977 (GRCm39) |
D615G |
probably damaging |
Het |
Igkv14-130 |
A |
T |
6: 67,768,465 (GRCm39) |
Y107F |
probably damaging |
Het |
Ldlr |
T |
A |
9: 21,657,203 (GRCm39) |
|
probably null |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lrrc37a |
A |
T |
11: 103,389,066 (GRCm39) |
S2120T |
unknown |
Het |
Mtfmt |
G |
T |
9: 65,346,897 (GRCm39) |
V164F |
probably damaging |
Het |
Nampt |
T |
C |
12: 32,883,037 (GRCm39) |
V74A |
probably damaging |
Het |
Ndufc2 |
G |
T |
7: 97,056,871 (GRCm39) |
R120L |
probably damaging |
Het |
Neo1 |
A |
T |
9: 58,801,194 (GRCm39) |
V1156D |
possibly damaging |
Het |
Nlrp1b |
G |
A |
11: 71,050,898 (GRCm39) |
P1065S |
possibly damaging |
Het |
Nop9 |
A |
G |
14: 55,983,397 (GRCm39) |
H56R |
possibly damaging |
Het |
Or4k41 |
A |
T |
2: 111,279,934 (GRCm39) |
T150S |
probably benign |
Het |
Or6c75 |
A |
T |
10: 129,337,178 (GRCm39) |
M142L |
possibly damaging |
Het |
Pign |
A |
T |
1: 105,449,798 (GRCm39) |
N909K |
possibly damaging |
Het |
Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
Racgap1 |
G |
A |
15: 99,526,643 (GRCm39) |
R307W |
probably damaging |
Het |
Rap1gds1 |
C |
A |
3: 138,661,181 (GRCm39) |
E399* |
probably null |
Het |
Rwdd4a |
G |
A |
8: 47,995,837 (GRCm39) |
|
probably null |
Het |
Sanbr |
A |
C |
11: 23,570,354 (GRCm39) |
M182R |
probably benign |
Het |
Scp2 |
T |
C |
4: 107,928,488 (GRCm39) |
T401A |
probably benign |
Het |
Shroom1 |
T |
A |
11: 53,354,872 (GRCm39) |
L264Q |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,907,590 (GRCm39) |
T1466A |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,801,852 (GRCm39) |
C71Y |
probably damaging |
Het |
Ugt2b34 |
G |
A |
5: 87,052,246 (GRCm39) |
S250L |
probably benign |
Het |
Vmn2r88 |
A |
G |
14: 51,650,638 (GRCm39) |
D117G |
probably benign |
Het |
Wdr73 |
A |
T |
7: 80,542,173 (GRCm39) |
|
probably benign |
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 |
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'- AGCAACATACAGCTGTGGGG -3'
(R):5'- CCAAGGTAAAATGGCATACTTGG -3'
Sequencing Primer
(F):5'- CTGGACAGCAGGCATGGAC -3'
(R):5'- TGGCATACTTGGAAGACTATAATAGG -3'
|
Posted On |
2016-06-15 |