Incidental Mutation 'R5947:Sucla2'
| ID |
472248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sucla2
|
| Ensembl Gene |
ENSMUSG00000022110 |
| Gene Name |
succinate-Coenzyme A ligase, ADP-forming, beta subunit |
| Synonyms |
4930547K18Rik |
| MMRRC Submission |
044138-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.937)
|
| Stock # |
R5947 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
73790226-73833584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73830109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 382
(M382K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022706]
[ENSMUST00000160507]
|
| AlphaFold |
Q9Z2I9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022706
AA Change: M382K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022706
Gene: ENSMUSG00000022110
AA Change: M382K
| 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 |
noncoding transcript
Transcript: ENSMUST00000159165
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160507
AA Change: M382K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123765
Gene: ENSMUSG00000022110
AA Change: M382K
| 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: ENSMUST00000161082
|
| Meta Mutation Damage Score |
0.9431 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
100% (70/70) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
T |
C |
8: 124,694,737 (GRCm39) |
|
probably null |
Het |
| Abt1 |
T |
C |
13: 23,606,225 (GRCm39) |
E243G |
possibly damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,876,771 (GRCm39) |
S361P |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,596,694 (GRCm39) |
S507P |
probably benign |
Het |
| Atp13a3 |
A |
G |
16: 30,181,518 (GRCm39) |
V34A |
probably benign |
Het |
| Atpaf2 |
A |
T |
11: 60,296,708 (GRCm39) |
|
probably benign |
Het |
| Bbs1 |
A |
C |
19: 4,943,022 (GRCm39) |
L456R |
probably benign |
Het |
| Bri3bp |
G |
T |
5: 125,529,217 (GRCm39) |
G84* |
probably null |
Het |
| Bri3bp |
G |
C |
5: 125,529,218 (GRCm39) |
|
probably benign |
Het |
| Car10 |
A |
C |
11: 93,381,439 (GRCm39) |
H134P |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,006,691 (GRCm39) |
E119G |
probably damaging |
Het |
| Cxcl3 |
C |
T |
5: 90,934,175 (GRCm39) |
|
probably benign |
Het |
| Dppa4 |
T |
C |
16: 48,111,471 (GRCm39) |
V100A |
possibly damaging |
Het |
| Elmo1 |
G |
T |
13: 20,474,553 (GRCm39) |
E105* |
probably null |
Het |
| Esrp2 |
T |
G |
8: 106,859,565 (GRCm39) |
|
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,388,835 (GRCm39) |
K108R |
possibly damaging |
Het |
| Exph5 |
G |
A |
9: 53,286,522 (GRCm39) |
R1201H |
probably benign |
Het |
| Galnt3 |
A |
C |
2: 65,914,500 (GRCm39) |
|
probably benign |
Het |
| Gm14486 |
C |
T |
2: 30,548,813 (GRCm39) |
|
noncoding transcript |
Het |
| Gna12 |
T |
A |
5: 140,746,717 (GRCm39) |
I243F |
probably damaging |
Het |
| Itga5 |
A |
T |
15: 103,265,212 (GRCm39) |
W232R |
probably damaging |
Het |
| Lekr1 |
A |
T |
3: 65,680,498 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp1 |
C |
T |
10: 127,425,423 (GRCm39) |
|
probably null |
Het |
| Mast4 |
T |
C |
13: 102,872,148 (GRCm39) |
M2215V |
probably benign |
Het |
| Mfap5 |
T |
C |
6: 122,502,945 (GRCm39) |
Y52H |
probably damaging |
Het |
| Mrps31 |
A |
G |
8: 22,904,991 (GRCm39) |
K127E |
possibly damaging |
Het |
| Mto1 |
C |
T |
9: 78,368,311 (GRCm39) |
T485M |
probably damaging |
Het |
| Mybbp1a |
G |
A |
11: 72,333,257 (GRCm39) |
C107Y |
probably damaging |
Het |
| Nedd4 |
G |
A |
9: 72,638,132 (GRCm39) |
|
probably benign |
Het |
| Nek2 |
A |
G |
1: 191,561,597 (GRCm39) |
E360G |
probably benign |
Het |
| Notch1 |
T |
A |
2: 26,352,540 (GRCm39) |
|
probably benign |
Het |
| Nubp1 |
T |
C |
16: 10,238,050 (GRCm39) |
|
probably benign |
Het |
| Pcdhb1 |
G |
A |
18: 37,399,726 (GRCm39) |
R559H |
possibly damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,117,702 (GRCm39) |
V1684I |
probably benign |
Het |
| Pggt1b |
G |
T |
18: 46,382,007 (GRCm39) |
N258K |
probably benign |
Het |
| Pou6f1 |
C |
T |
15: 100,484,001 (GRCm39) |
V166M |
possibly damaging |
Het |
| Pprc1 |
A |
G |
19: 46,052,111 (GRCm39) |
D546G |
possibly damaging |
Het |
| Psapl1 |
T |
C |
5: 36,361,651 (GRCm39) |
V81A |
probably benign |
Het |
| Rin2 |
T |
A |
2: 145,686,863 (GRCm39) |
|
probably benign |
Het |
| Rpf1 |
A |
G |
3: 146,212,299 (GRCm39) |
F347S |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,859,247 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,771,349 (GRCm39) |
L2557Q |
probably null |
Het |
| Slc1a7 |
T |
C |
4: 107,867,497 (GRCm39) |
|
probably benign |
Het |
| Slc35e2 |
T |
A |
4: 155,696,171 (GRCm39) |
M186K |
possibly damaging |
Het |
| Slc49a4 |
T |
C |
16: 35,550,676 (GRCm39) |
T308A |
probably benign |
Het |
| Snx6 |
G |
T |
12: 54,817,549 (GRCm39) |
S116* |
probably null |
Het |
| Sptan1 |
T |
C |
2: 29,884,379 (GRCm39) |
|
probably null |
Het |
| Susd5 |
T |
C |
9: 113,886,659 (GRCm39) |
L16P |
possibly damaging |
Het |
| Tmem260 |
G |
A |
14: 48,724,258 (GRCm39) |
A369T |
possibly damaging |
Het |
| Tmprss6 |
A |
G |
15: 78,336,722 (GRCm39) |
Y393H |
probably damaging |
Het |
| Tnrc6c |
A |
T |
11: 117,613,345 (GRCm39) |
Q501L |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,856,369 (GRCm39) |
Y142C |
probably damaging |
Het |
| Trim65 |
T |
C |
11: 116,019,108 (GRCm39) |
R144G |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,873,547 (GRCm39) |
T601A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,564,688 (GRCm39) |
V28483E |
probably damaging |
Het |
| Ube2l3 |
T |
C |
16: 17,019,340 (GRCm39) |
|
probably null |
Het |
| Ube2l3 |
G |
T |
16: 17,019,336 (GRCm39) |
|
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,085,318 (GRCm39) |
|
probably benign |
Het |
| Zfat |
A |
G |
15: 68,051,806 (GRCm39) |
S663P |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
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 |
|
R6045:Sucla2
|
UTSW |
14 |
73,806,404 (GRCm39) |
nonsense |
probably null |
|
|
R6236:Sucla2
|
UTSW |
14 |
73,831,190 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6693:Sucla2
|
UTSW |
14 |
73,806,107 (GRCm39) |
nonsense |
probably null |
|
|
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'- AGTCTGGCTTACAAGGTTTCTG -3'
(R):5'- CCCTTACAACTGCATCACTGAG -3'
Sequencing Primer
(F):5'- GAAATGAGTAGTTGTAAGTCCTGG -3'
(R):5'- CAACTGCATCACTGAGAGAATTAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation