Incidental Mutation 'R7706:Sucla2'
| ID |
594295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sucla2
|
| Ensembl Gene |
ENSMUSG00000022110 |
| Gene Name |
succinate-Coenzyme A ligase, ADP-forming, beta subunit |
| Synonyms |
4930547K18Rik |
| MMRRC Submission |
045767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.923)
|
| Stock # |
R7706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
73790226-73833584 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73806433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 168
(Y168C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022706]
[ENSMUST00000160507]
|
| AlphaFold |
Q9Z2I9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022706
AA Change: Y168C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022706
Gene: ENSMUSG00000022110
AA Change: Y168C
| 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 damaging
Transcript: ENSMUST00000160507
AA Change: Y168C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123765
Gene: ENSMUSG00000022110
AA Change: Y168C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (52/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
G |
A |
17: 46,044,583 (GRCm39) |
T46I |
unknown |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Atxn7l2 |
T |
C |
3: 108,114,719 (GRCm39) |
D109G |
probably damaging |
Het |
| B4galnt3 |
C |
A |
6: 120,195,913 (GRCm39) |
V305L |
probably benign |
Het |
| C9 |
T |
A |
15: 6,488,402 (GRCm39) |
N85K |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,305,867 (GRCm39) |
I1941V |
probably benign |
Het |
| Capn15 |
A |
G |
17: 26,183,125 (GRCm39) |
V518A |
probably benign |
Het |
| Chst10 |
A |
T |
1: 38,905,106 (GRCm39) |
Y200N |
probably damaging |
Het |
| Ciao3 |
T |
C |
17: 26,001,226 (GRCm39) |
*493Q |
probably null |
Het |
| Cir1 |
A |
G |
2: 73,142,823 (GRCm39) |
S4P |
probably damaging |
Het |
| Cish |
G |
A |
9: 107,177,840 (GRCm39) |
R172Q |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,422,506 (GRCm39) |
N693K |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,538,939 (GRCm39) |
D249G |
probably damaging |
Het |
| Dennd6b |
T |
C |
15: 89,069,447 (GRCm39) |
D528G |
probably benign |
Het |
| Dmtf1 |
T |
A |
5: 9,174,489 (GRCm39) |
T484S |
possibly damaging |
Het |
| Dnaaf5 |
T |
C |
5: 139,138,596 (GRCm39) |
V259A |
probably damaging |
Het |
| Dzip1l |
A |
T |
9: 99,519,589 (GRCm39) |
S39C |
probably damaging |
Het |
| Efcab8 |
T |
A |
2: 153,623,695 (GRCm39) |
M60K |
|
Het |
| Eml2 |
T |
A |
7: 18,920,035 (GRCm39) |
V113D |
possibly damaging |
Het |
| Fnip1 |
A |
T |
11: 54,406,325 (GRCm39) |
I1141F |
probably benign |
Het |
| Gm7298 |
T |
A |
6: 121,712,570 (GRCm39) |
S127R |
probably damaging |
Het |
| Hcn2 |
G |
A |
10: 79,570,017 (GRCm39) |
R622Q |
possibly damaging |
Het |
| Ift172 |
C |
T |
5: 31,423,723 (GRCm39) |
W746* |
probably null |
Het |
| Irs1 |
A |
G |
1: 82,265,412 (GRCm39) |
Y935H |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,936,827 (GRCm39) |
I183V |
probably benign |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lalba |
T |
C |
15: 98,379,474 (GRCm39) |
D103G |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,747,210 (GRCm39) |
L822P |
probably damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,076,845 (GRCm39) |
C36Y |
probably damaging |
Het |
| Ly6e |
T |
C |
15: 74,830,183 (GRCm39) |
S46P |
possibly damaging |
Het |
| Nav2 |
T |
C |
7: 49,244,067 (GRCm39) |
I2098T |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,381,010 (GRCm39) |
E594G |
probably benign |
Het |
| Or52k2 |
T |
A |
7: 102,253,853 (GRCm39) |
H97Q |
probably benign |
Het |
| Parn |
T |
C |
16: 13,425,117 (GRCm39) |
D432G |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,704,793 (GRCm39) |
S836P |
probably damaging |
Het |
| Pcmtd2 |
C |
T |
2: 181,496,868 (GRCm39) |
R282C |
probably damaging |
Het |
| Ppp2r3c |
A |
G |
12: 55,328,490 (GRCm39) |
I425T |
probably benign |
Het |
| Samm50 |
T |
A |
15: 84,085,081 (GRCm39) |
|
probably null |
Het |
| Sars1 |
C |
T |
3: 108,338,780 (GRCm39) |
|
probably null |
Het |
| Senp8 |
A |
G |
9: 59,645,121 (GRCm39) |
Y12H |
possibly damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,247,290 (GRCm39) |
I577V |
possibly damaging |
Het |
| Srr |
T |
G |
11: 74,803,961 (GRCm39) |
|
probably null |
Het |
| Steap2 |
T |
A |
5: 5,732,967 (GRCm39) |
N19I |
possibly damaging |
Het |
| Tha1 |
T |
C |
11: 117,760,281 (GRCm39) |
Q275R |
probably damaging |
Het |
| Trim56 |
T |
C |
5: 137,143,510 (GRCm39) |
N2S |
probably benign |
Het |
| Tubgcp6 |
T |
A |
15: 88,988,426 (GRCm39) |
H849L |
probably benign |
Het |
| Uevld |
A |
G |
7: 46,597,775 (GRCm39) |
I72T |
possibly damaging |
Het |
| Ybx1 |
A |
G |
4: 119,136,164 (GRCm39) |
*323Q |
probably null |
Het |
| Zfp354b |
C |
T |
11: 50,819,390 (GRCm39) |
|
probably null |
Het |
| Zfp36l2 |
A |
T |
17: 84,494,346 (GRCm39) |
L97Q |
probably benign |
Het |
| Zfp729a |
T |
A |
13: 67,771,612 (GRCm39) |
R78S |
possibly 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 |
|
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 |
|
R6693:Sucla2
|
UTSW |
14 |
73,806,107 (GRCm39) |
nonsense |
probably null |
|
|
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'- ACACTGAGCGTTACCTGTG -3'
(R):5'- ACAGTGGAATTCCCCTATCGC -3'
Sequencing Primer
(F):5'- ACTGAGCGTTACCTGTGGTGTAG -3'
(R):5'- AGTGGAATTCCCCTATCGCTTTTTAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation