Incidental Mutation 'R3736:Suclg2'
| ID |
270120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Suclg2
|
| Ensembl Gene |
ENSMUSG00000061838 |
| Gene Name |
succinate-Coenzyme A ligase, GDP-forming, beta subunit |
| Synonyms |
D6Wsu120e |
| MMRRC Submission |
040723-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3736 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
95449990-95695781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95474677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 363
(I363F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079847]
[ENSMUST00000204224]
|
| AlphaFold |
Q9Z2I8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079847
AA Change: I314F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078774
Gene: ENSMUSG00000061838
AA Change: I314F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
Pfam:ATP-grasp_5
|
33 |
263 |
1.1e-11 |
PFAM |
|
Pfam:ATP-grasp_2
|
40 |
248 |
2.4e-79 |
PFAM |
|
Pfam:Ligase_CoA
|
307 |
427 |
3.4e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204224
AA Change: I363F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144827
Gene: ENSMUSG00000061838
AA Change: I363F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
27 |
N/A |
INTRINSIC |
|
Pfam:ATP-grasp_5
|
33 |
263 |
1.1e-11 |
PFAM |
|
Pfam:ATP-grasp_2
|
40 |
248 |
2.4e-79 |
PFAM |
|
Pfam:Ligase_CoA
|
307 |
427 |
3.4e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (53/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTP-specific beta subunit of succinyl-CoA synthetase. Succinyl-CoA synthetase catalyzes the reversible reaction involving the formation of succinyl-CoA and succinate. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 5 and 12. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous knockout with a gene trap is embryonic lethal. Heterozygosity has a mild effect on mitochondrial respiration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
A |
7: 29,273,996 (GRCm39) |
|
noncoding transcript |
Het |
| Acot12 |
T |
A |
13: 91,932,465 (GRCm39) |
I487N |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,768,497 (GRCm39) |
K686R |
probably benign |
Het |
| Adgrf2 |
T |
C |
17: 43,021,903 (GRCm39) |
E307G |
probably benign |
Het |
| Ang2 |
G |
A |
14: 51,433,113 (GRCm39) |
R90* |
probably null |
Het |
| Ankrd11 |
A |
T |
8: 123,618,524 (GRCm39) |
V1776D |
probably damaging |
Het |
| Atp12a |
G |
A |
14: 56,611,884 (GRCm39) |
V353I |
possibly damaging |
Het |
| Bbs7 |
A |
G |
3: 36,661,819 (GRCm39) |
Y127H |
possibly damaging |
Het |
| C8a |
T |
C |
4: 104,674,812 (GRCm39) |
E509G |
probably benign |
Het |
| Ccdc158 |
A |
C |
5: 92,780,283 (GRCm39) |
L930R |
possibly damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,465,564 (GRCm39) |
|
probably null |
Het |
| Cep170b |
A |
T |
12: 112,707,438 (GRCm39) |
I395F |
probably damaging |
Het |
| Cimip2c |
A |
T |
5: 30,639,442 (GRCm39) |
Y123F |
probably benign |
Het |
| Clcn3 |
T |
A |
8: 61,436,686 (GRCm39) |
|
probably benign |
Het |
| Ctps1 |
T |
C |
4: 120,400,943 (GRCm39) |
T459A |
probably benign |
Het |
| Cyp2j8 |
T |
A |
4: 96,332,836 (GRCm39) |
R503S |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,598,109 (GRCm39) |
V1767I |
probably benign |
Het |
| Evi5 |
A |
T |
5: 107,966,849 (GRCm39) |
V224D |
probably damaging |
Het |
| F8 |
G |
A |
X: 74,254,981 (GRCm39) |
P2138S |
probably damaging |
Het |
| Helq |
T |
G |
5: 100,938,054 (GRCm39) |
D464A |
possibly damaging |
Het |
| Irag1 |
A |
G |
7: 110,523,170 (GRCm39) |
V297A |
probably benign |
Het |
| Irag2 |
G |
A |
6: 145,106,596 (GRCm39) |
|
probably benign |
Het |
| Kcnk10 |
A |
G |
12: 98,456,171 (GRCm39) |
V203A |
probably benign |
Het |
| Lef1 |
C |
T |
3: 130,984,715 (GRCm39) |
P160S |
possibly damaging |
Het |
| Lyn |
G |
T |
4: 3,745,330 (GRCm39) |
W78C |
probably damaging |
Het |
| Med12l |
T |
A |
3: 58,998,916 (GRCm39) |
H614Q |
probably damaging |
Het |
| Mogs |
C |
A |
6: 83,093,757 (GRCm39) |
T242K |
possibly damaging |
Het |
| Morc3 |
T |
A |
16: 93,671,700 (GRCm39) |
V910E |
probably damaging |
Het |
| Ncapg |
A |
T |
5: 45,853,469 (GRCm39) |
Q906L |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,027,320 (GRCm39) |
Y234C |
probably damaging |
Het |
| Olr1 |
T |
A |
6: 129,476,838 (GRCm39) |
|
probably benign |
Het |
| Or5p76 |
A |
G |
7: 108,122,626 (GRCm39) |
V177A |
possibly damaging |
Het |
| Osmr |
A |
T |
15: 6,851,561 (GRCm39) |
Y656N |
probably damaging |
Het |
| Pde4dip |
A |
T |
3: 97,631,427 (GRCm39) |
F1161I |
probably damaging |
Het |
| Poc5 |
A |
G |
13: 96,533,324 (GRCm39) |
S151G |
probably damaging |
Het |
| Rmnd5a |
T |
C |
6: 71,373,846 (GRCm39) |
D316G |
possibly damaging |
Het |
| Shroom3 |
T |
C |
5: 93,112,303 (GRCm39) |
V1888A |
possibly damaging |
Het |
| Shtn1 |
A |
T |
19: 59,010,700 (GRCm39) |
S256T |
probably benign |
Het |
| Sptlc2 |
G |
A |
12: 87,388,339 (GRCm39) |
A381V |
probably benign |
Het |
| Tas2r134 |
C |
A |
2: 51,517,786 (GRCm39) |
N88K |
probably damaging |
Het |
| Tbc1d32 |
A |
G |
10: 56,005,189 (GRCm39) |
Y815H |
probably damaging |
Het |
| Tnrc6b |
G |
C |
15: 80,773,364 (GRCm39) |
|
probably benign |
Het |
| Vti1a |
T |
A |
19: 55,369,364 (GRCm39) |
|
probably null |
Het |
| Zfp273 |
T |
A |
13: 67,973,626 (GRCm39) |
C251* |
probably null |
Het |
| Zfp683 |
C |
A |
4: 133,784,742 (GRCm39) |
Q330K |
probably benign |
Het |
| Zfpm1 |
G |
A |
8: 123,050,475 (GRCm39) |
C117Y |
possibly damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,803 (GRCm39) |
N189S |
probably benign |
Het |
|
| Other mutations in Suclg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01892:Suclg2
|
APN |
6 |
95,556,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01904:Suclg2
|
APN |
6 |
95,565,915 (GRCm39) |
splice site |
probably benign |
|
|
IGL02245:Suclg2
|
APN |
6 |
95,572,722 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL03268:Suclg2
|
APN |
6 |
95,546,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4576001:Suclg2
|
UTSW |
6 |
95,563,999 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0173:Suclg2
|
UTSW |
6 |
95,452,154 (GRCm39) |
splice site |
probably benign |
|
|
R1241:Suclg2
|
UTSW |
6 |
95,474,563 (GRCm39) |
splice site |
probably benign |
|
|
R1654:Suclg2
|
UTSW |
6 |
95,632,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1712:Suclg2
|
UTSW |
6 |
95,563,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Suclg2
|
UTSW |
6 |
95,566,075 (GRCm39) |
splice site |
probably benign |
|
|
R3735:Suclg2
|
UTSW |
6 |
95,474,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Suclg2
|
UTSW |
6 |
95,474,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3803:Suclg2
|
UTSW |
6 |
95,474,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3804:Suclg2
|
UTSW |
6 |
95,474,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3947:Suclg2
|
UTSW |
6 |
95,556,219 (GRCm39) |
splice site |
probably null |
|
|
R4768:Suclg2
|
UTSW |
6 |
95,543,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4953:Suclg2
|
UTSW |
6 |
95,543,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6140:Suclg2
|
UTSW |
6 |
95,546,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7105:Suclg2
|
UTSW |
6 |
95,572,635 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7335:Suclg2
|
UTSW |
6 |
95,543,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7335:Suclg2
|
UTSW |
6 |
95,543,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Suclg2
|
UTSW |
6 |
95,571,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8220:Suclg2
|
UTSW |
6 |
95,565,927 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8283:Suclg2
|
UTSW |
6 |
95,474,700 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8726:Suclg2
|
UTSW |
6 |
95,632,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8840:Suclg2
|
UTSW |
6 |
95,546,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8854:Suclg2
|
UTSW |
6 |
95,572,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9444:Suclg2
|
UTSW |
6 |
95,543,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Suclg2
|
UTSW |
6 |
95,546,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTAGGAAGTGTGTGAGCC -3'
(R):5'- CCTGTCTCAGTTCATAAGACTGG -3'
Sequencing Primer
(F):5'- AGTGTGTGAGCCCAGAGC -3'
(R):5'- CCGAAGCTTAATTTTTGTGACAGTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation