Incidental Mutation 'R6693:Sucla2'
| ID |
528183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sucla2
|
| Ensembl Gene |
ENSMUSG00000022110 |
| Gene Name |
succinate-Coenzyme A ligase, ADP-forming, beta subunit |
| Synonyms |
4930547K18Rik |
| MMRRC Submission |
044811-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.923)
|
| Stock # |
R6693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
73790226-73833584 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 73806107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 102
(L102*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022706]
[ENSMUST00000160507]
|
| AlphaFold |
Q9Z2I9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022706
AA Change: L102*
|
| SMART Domains |
Protein: ENSMUSP00000022706
Gene: ENSMUSG00000022110
AA Change: L102*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-grasp_5
|
44 |
277 |
1.6e-11 |
PFAM |
|
Pfam:ATP-grasp_2
|
54 |
262 |
9.2e-78 |
PFAM |
|
Pfam:Ligase_CoA
|
321 |
441 |
2.2e-29 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160507
AA Change: L102*
|
| SMART Domains |
Protein: ENSMUSP00000123765
Gene: ENSMUSG00000022110
AA Change: L102*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-grasp_5
|
44 |
277 |
3e-11 |
PFAM |
|
Pfam:ATP-grasp_2
|
54 |
262 |
9.5e-77 |
PFAM |
|
Pfam:Ligase_CoA
|
321 |
441 |
2.2e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161829
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit perinatal lethality with reduced size, placenta mineralization, decreased mitochondrial DNA and respiration. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted, other(2) Gene trapped(5) |
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,915 (GRCm39) |
V1368A |
probably benign |
Het |
| Aak1 |
C |
T |
6: 86,942,497 (GRCm39) |
S680L |
unknown |
Het |
| Adam25 |
A |
T |
8: 41,207,568 (GRCm39) |
N278I |
probably damaging |
Het |
| Adamtsl1 |
C |
A |
4: 86,261,123 (GRCm39) |
H1111Q |
probably benign |
Het |
| Adgrg7 |
T |
A |
16: 56,590,587 (GRCm39) |
N195Y |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,357,343 (GRCm39) |
N436S |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,956,445 (GRCm39) |
I1045V |
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,927,458 (GRCm39) |
N526S |
probably benign |
Het |
| Cpeb2 |
A |
T |
5: 43,443,255 (GRCm39) |
D982V |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,617,112 (GRCm39) |
I130V |
probably benign |
Het |
| Glb1l |
T |
C |
1: 75,185,745 (GRCm39) |
D61G |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,386,258 (GRCm39) |
C3737Y |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,278,965 (GRCm39) |
M39L |
probably benign |
Het |
| Kif17 |
C |
A |
4: 138,013,791 (GRCm39) |
Q236K |
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,561 (GRCm39) |
V184A |
possibly damaging |
Het |
| Lmf1 |
A |
T |
17: 25,864,252 (GRCm39) |
M287L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,601 (GRCm39) |
T822A |
possibly damaging |
Het |
| Mmp13 |
A |
T |
9: 7,280,245 (GRCm39) |
T392S |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,153,013 (GRCm39) |
N215K |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,199 (GRCm39) |
K317R |
possibly damaging |
Het |
| Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
| Or9m1 |
A |
G |
2: 87,733,652 (GRCm39) |
Y123H |
probably damaging |
Het |
| Pax9 |
T |
A |
12: 56,756,516 (GRCm39) |
S285T |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,607,394 (GRCm39) |
T209S |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,330,100 (GRCm39) |
|
probably null |
Het |
| Rbak |
T |
C |
5: 143,159,866 (GRCm39) |
K396E |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,088 (GRCm39) |
V545A |
probably benign |
Het |
| Scg2 |
G |
T |
1: 79,413,737 (GRCm39) |
Q329K |
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,088,617 (GRCm39) |
A456T |
possibly damaging |
Het |
| Slc12a7 |
G |
T |
13: 73,945,656 (GRCm39) |
A489S |
probably benign |
Het |
| Slc16a4 |
T |
C |
3: 107,210,380 (GRCm39) |
I350T |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,930,162 (GRCm39) |
V44A |
possibly damaging |
Het |
| Tgif1 |
T |
A |
17: 71,157,885 (GRCm39) |
|
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,669,837 (GRCm39) |
E111G |
probably benign |
Het |
| Zfp971 |
G |
T |
2: 177,675,224 (GRCm39) |
K274N |
probably benign |
Het |
|
| Other mutations in Sucla2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00973:Sucla2
|
APN |
14 |
73,828,347 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01539:Sucla2
|
APN |
14 |
73,828,561 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02064:Sucla2
|
APN |
14 |
73,816,913 (GRCm39) |
nonsense |
probably null |
|
|
IGL02240:Sucla2
|
APN |
14 |
73,828,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02640:Sucla2
|
APN |
14 |
73,819,246 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02965:Sucla2
|
APN |
14 |
73,816,871 (GRCm39) |
missense |
probably benign |
0.00 |
|
3-1:Sucla2
|
UTSW |
14 |
73,806,397 (GRCm39) |
nonsense |
probably null |
|
|
PIT4812001:Sucla2
|
UTSW |
14 |
73,816,889 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0189:Sucla2
|
UTSW |
14 |
73,830,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0764:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
|
R0765:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
|
R0844:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
|
R1065:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
|
R1067:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
|
R1136:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
|
R1162:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
|
R1311:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
|
R1312:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
|
R1345:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
|
R1416:Sucla2
|
UTSW |
14 |
73,798,074 (GRCm39) |
unclassified |
probably benign |
|
|
R1677:Sucla2
|
UTSW |
14 |
73,830,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1968:Sucla2
|
UTSW |
14 |
73,831,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2126:Sucla2
|
UTSW |
14 |
73,830,108 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2484:Sucla2
|
UTSW |
14 |
73,819,149 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2566:Sucla2
|
UTSW |
14 |
73,790,244 (GRCm39) |
intron |
probably benign |
|
|
R3706:Sucla2
|
UTSW |
14 |
73,828,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Sucla2
|
UTSW |
14 |
73,806,429 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5620:Sucla2
|
UTSW |
14 |
73,832,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5650:Sucla2
|
UTSW |
14 |
73,828,569 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5947:Sucla2
|
UTSW |
14 |
73,830,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Sucla2
|
UTSW |
14 |
73,806,404 (GRCm39) |
nonsense |
probably null |
|
|
R6236:Sucla2
|
UTSW |
14 |
73,831,190 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7706:Sucla2
|
UTSW |
14 |
73,806,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8786:Sucla2
|
UTSW |
14 |
73,797,905 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9055:Sucla2
|
UTSW |
14 |
73,819,068 (GRCm39) |
intron |
probably benign |
|
|
R9064:Sucla2
|
UTSW |
14 |
73,828,303 (GRCm39) |
missense |
probably benign |
|
|
R9380:Sucla2
|
UTSW |
14 |
73,828,312 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGATAGACCTTTCATATGGTG -3'
(R):5'- TCATCTGTGAGGAAACAGCTTTTG -3'
Sequencing Primer
(F):5'- GTGGTAATGGGACTTCACT -3'
(R):5'- TTTGCTTCTTCTGGACTACAATAAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation