Incidental Mutation 'R5920:Sdha'
| ID |
461535 |
| 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 |
044117-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5920 (G1)
|
| Quality Score |
138 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
74470374-74498359 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 74475044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022062]
|
| AlphaFold |
Q8K2B3 |
| Predicted Effect |
probably null
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
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.4%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
C |
8: 25,164,091 (GRCm39) |
K31E |
probably damaging |
Het |
| Ak9 |
T |
A |
10: 41,296,672 (GRCm39) |
C1473S |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,088,631 (GRCm39) |
L139S |
probably damaging |
Het |
| Arhgap45 |
T |
A |
10: 79,864,965 (GRCm39) |
V849D |
possibly damaging |
Het |
| Atp13a1 |
G |
A |
8: 70,252,746 (GRCm39) |
E689K |
probably benign |
Het |
| Calcr |
G |
A |
6: 3,722,994 (GRCm39) |
R11W |
probably damaging |
Het |
| Casd1 |
T |
A |
6: 4,641,853 (GRCm39) |
L710Q |
probably null |
Het |
| Cenpc1 |
T |
A |
5: 86,168,769 (GRCm39) |
T743S |
probably benign |
Het |
| Cfap43 |
A |
G |
19: 47,749,335 (GRCm39) |
V1185A |
possibly damaging |
Het |
| Chd2 |
A |
G |
7: 73,187,060 (GRCm39) |
L33P |
probably damaging |
Het |
| Col24a1 |
G |
T |
3: 145,133,985 (GRCm39) |
G889C |
probably damaging |
Het |
| Cracdl |
T |
A |
1: 37,677,062 (GRCm39) |
K40M |
probably damaging |
Het |
| Dbh |
T |
C |
2: 27,067,243 (GRCm39) |
|
probably benign |
Het |
| Dcdc2c |
T |
C |
12: 28,585,536 (GRCm39) |
I154V |
possibly damaging |
Het |
| Eif2b5 |
G |
T |
16: 20,317,694 (GRCm39) |
A11S |
unknown |
Het |
| Frmd4a |
T |
G |
2: 4,337,927 (GRCm39) |
N44K |
probably benign |
Het |
| Fsip2 |
C |
T |
2: 82,818,852 (GRCm39) |
Q4862* |
probably null |
Het |
| Hectd4 |
C |
T |
5: 121,446,334 (GRCm39) |
T1513I |
possibly damaging |
Het |
| Hspg2 |
A |
T |
4: 137,281,093 (GRCm39) |
D3355V |
probably damaging |
Het |
| Ift56 |
A |
G |
6: 38,389,005 (GRCm39) |
Y430C |
probably damaging |
Het |
| Il16 |
G |
A |
7: 83,301,552 (GRCm39) |
T190I |
probably benign |
Het |
| Immt |
T |
A |
6: 71,840,180 (GRCm39) |
V319D |
probably benign |
Het |
| Kdm2b |
G |
C |
5: 123,018,359 (GRCm39) |
S989W |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,704,440 (GRCm39) |
E1211G |
possibly damaging |
Het |
| Ktn1 |
G |
T |
14: 47,961,481 (GRCm39) |
G1061* |
probably null |
Het |
| Mast3 |
T |
C |
8: 71,240,577 (GRCm39) |
I287V |
probably benign |
Het |
| Mrgpre |
T |
A |
7: 143,335,465 (GRCm39) |
T13S |
probably benign |
Het |
| Myoc |
C |
T |
1: 162,467,128 (GRCm39) |
A99V |
probably benign |
Het |
| Or10a49 |
C |
A |
7: 108,467,895 (GRCm39) |
M155I |
probably benign |
Het |
| Otulinl |
T |
A |
15: 27,664,442 (GRCm39) |
R109S |
possibly damaging |
Het |
| Per3 |
G |
A |
4: 151,096,907 (GRCm39) |
P873S |
probably benign |
Het |
| Phykpl |
A |
C |
11: 51,493,622 (GRCm39) |
E453A |
probably benign |
Het |
| Pkd2l2 |
A |
T |
18: 34,563,826 (GRCm39) |
I514L |
probably benign |
Het |
| Plcl2 |
G |
T |
17: 50,915,703 (GRCm39) |
R904L |
probably damaging |
Het |
| Ptpn1 |
A |
G |
2: 167,813,668 (GRCm39) |
D137G |
probably benign |
Het |
| Rasal3 |
G |
A |
17: 32,614,143 (GRCm39) |
P571S |
probably damaging |
Het |
| Tbc1d31 |
C |
A |
15: 57,805,954 (GRCm39) |
Q439K |
probably benign |
Het |
| Ttc12 |
T |
C |
9: 49,364,633 (GRCm39) |
D381G |
possibly damaging |
Het |
| Uaca |
T |
A |
9: 60,776,885 (GRCm39) |
M424K |
probably benign |
Het |
| Usp33 |
G |
T |
3: 152,080,320 (GRCm39) |
A484S |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,316,730 (GRCm39) |
S1940P |
probably damaging |
Het |
| Zfp532 |
G |
A |
18: 65,777,421 (GRCm39) |
V893I |
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 |
|
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 |
|
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'- TTGCTTTATGTCCAGAGTACCTAC -3'
Sequencing Primer
(F):5'- AATGCTGCACGGGCTAACTC -3'
(R):5'- TGTCCAGAGTACCTACATGACTGG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation