Incidental Mutation 'R0960:Sdha'
| ID |
81840 |
| 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 |
039089-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0960 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
74470374-74498359 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 74471303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022062]
|
| AlphaFold |
Q8K2B3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022062
|
| SMART Domains |
Protein: ENSMUSP00000022062
Gene: ENSMUSG00000021577
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
98% (49/50) |
| 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 |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,792 (GRCm39) |
V256A |
probably benign |
Het |
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| 4930474N05Rik |
C |
A |
14: 35,818,367 (GRCm39) |
H122N |
probably benign |
Het |
| Aamp |
T |
C |
1: 74,320,304 (GRCm39) |
T341A |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,800 (GRCm39) |
H563Q |
probably damaging |
Het |
| Ankrd13a |
G |
A |
5: 114,924,868 (GRCm39) |
E118K |
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,913,847 (GRCm39) |
I174V |
probably benign |
Het |
| Atad2b |
G |
A |
12: 5,056,593 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
A |
G |
2: 118,437,161 (GRCm39) |
I120V |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,868,172 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
G |
4: 70,161,745 (GRCm39) |
Y254H |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,479,756 (GRCm39) |
I996T |
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,751,441 (GRCm39) |
I294V |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,441,511 (GRCm39) |
D431G |
probably damaging |
Het |
| Gm4884 |
T |
A |
7: 40,692,232 (GRCm39) |
M67K |
possibly damaging |
Het |
| Hmx3 |
T |
C |
7: 131,145,043 (GRCm39) |
Y118H |
probably benign |
Het |
| Hsf2bp |
C |
T |
17: 32,226,743 (GRCm39) |
R204H |
probably damaging |
Het |
| Il12b |
G |
T |
11: 44,299,315 (GRCm39) |
C128F |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,947,015 (GRCm39) |
M317V |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,471,781 (GRCm39) |
E769G |
probably damaging |
Het |
| Kif28 |
G |
A |
1: 179,523,370 (GRCm39) |
Q987* |
probably null |
Het |
| Klhdc3 |
T |
C |
17: 46,987,444 (GRCm39) |
H330R |
possibly damaging |
Het |
| Leo1 |
G |
A |
9: 75,352,522 (GRCm39) |
E22K |
probably benign |
Het |
| Lpcat2 |
C |
T |
8: 93,596,338 (GRCm39) |
T125M |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,132,124 (GRCm39) |
Y742C |
probably benign |
Het |
| Mllt6 |
C |
T |
11: 97,555,772 (GRCm39) |
|
probably benign |
Het |
| Mpp2 |
A |
G |
11: 101,952,411 (GRCm39) |
V354A |
possibly damaging |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Myo10 |
A |
G |
15: 25,801,275 (GRCm39) |
E1488G |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,102,995 (GRCm39) |
V4461A |
probably benign |
Het |
| Nudcd1 |
G |
T |
15: 44,291,047 (GRCm39) |
|
probably benign |
Het |
| Or10ag59 |
T |
C |
2: 87,406,279 (GRCm39) |
Y284H |
probably benign |
Het |
| Or2w1b |
A |
C |
13: 21,300,435 (GRCm39) |
D191A |
possibly damaging |
Het |
| Pde1a |
G |
A |
2: 79,695,378 (GRCm39) |
|
probably benign |
Het |
| Selenoo |
T |
G |
15: 88,980,957 (GRCm39) |
I432S |
probably benign |
Het |
| Sh3gl2 |
A |
T |
4: 85,295,717 (GRCm39) |
I140F |
probably damaging |
Het |
| Svopl |
G |
T |
6: 37,993,992 (GRCm39) |
Y346* |
probably null |
Het |
| Tbc1d17 |
C |
T |
7: 44,497,852 (GRCm39) |
|
probably benign |
Het |
| Tlr3 |
A |
C |
8: 45,850,452 (GRCm39) |
I815S |
probably damaging |
Het |
| Tmem25 |
T |
A |
9: 44,706,809 (GRCm39) |
|
probably null |
Het |
| Tpd52 |
A |
T |
3: 9,008,650 (GRCm39) |
|
probably null |
Het |
| Tspoap1 |
A |
T |
11: 87,661,421 (GRCm39) |
|
probably benign |
Het |
| Txndc11 |
A |
T |
16: 10,909,453 (GRCm39) |
D364E |
probably benign |
Het |
| Unc5cl |
G |
T |
17: 48,766,624 (GRCm39) |
|
probably benign |
Het |
| Vmn1r13 |
A |
G |
6: 57,186,996 (GRCm39) |
M52V |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,818,254 (GRCm39) |
Y314H |
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 |
|
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 |
|
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'- GACAAAGTCTGGCGCAACTCAATC -3'
(R):5'- TTCACCTGGTAGCAGGAGGCTAAG -3'
Sequencing Primer
(F):5'- GCAAGTACTACCAAGCTGTTG -3'
(R):5'- aggaggctaaggcaggag -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation