Incidental Mutation 'PIT4576001:Suclg2'
| ID |
556373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Suclg2
|
| Ensembl Gene |
ENSMUSG00000061838 |
| Gene Name |
succinate-Coenzyme A ligase, GDP-forming, beta subunit |
| Synonyms |
D6Wsu120e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4576001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
95449990-95695781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 95563999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 195
(D195E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144827
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079847]
[ENSMUST00000204224]
|
| AlphaFold |
Q9Z2I8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079847
AA Change: D146E
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078774
Gene: ENSMUSG00000061838
AA Change: D146E
| 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 |
possibly damaging
Transcript: ENSMUST00000204224
AA Change: D195E
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144827
Gene: ENSMUSG00000061838
AA Change: D195E
| 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 |
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.3%
- 20x: 72.8%
|
| Validation Efficiency |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544G11Rik |
T |
C |
6: 65,929,983 (GRCm39) |
S73P |
probably damaging |
Het |
| 5730596B20Rik |
G |
T |
6: 52,156,449 (GRCm39) |
V172F |
unknown |
Het |
| Brms1 |
A |
G |
19: 5,096,229 (GRCm39) |
K69E |
probably damaging |
Het |
| Calr4 |
A |
C |
4: 109,093,053 (GRCm39) |
Q44H |
possibly damaging |
Het |
| Dnmt1 |
G |
A |
9: 20,823,071 (GRCm39) |
T1242I |
probably benign |
Het |
| Dyrk3 |
A |
G |
1: 131,057,918 (GRCm39) |
V85A |
probably damaging |
Het |
| Eif2a |
T |
C |
3: 58,452,974 (GRCm39) |
Y250H |
probably damaging |
Het |
| Esco1 |
T |
C |
18: 10,572,093 (GRCm39) |
E749G |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,477,682 (GRCm39) |
I2243V |
probably damaging |
Het |
| Gh |
A |
T |
11: 106,191,659 (GRCm39) |
F128I |
possibly damaging |
Het |
| Gm17669 |
TAA |
TAAA |
18: 67,695,819 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
G |
13: 9,041,763 (GRCm39) |
Y150H |
probably damaging |
Het |
| H2ac15 |
C |
A |
13: 21,937,781 (GRCm39) |
D73Y |
probably damaging |
Het |
| Itga8 |
A |
G |
2: 12,234,903 (GRCm39) |
S452P |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,367,114 (GRCm39) |
E2549G |
probably benign |
Het |
| Mindy1 |
C |
T |
3: 95,195,380 (GRCm39) |
A41V |
probably benign |
Het |
| Mypn |
T |
A |
10: 62,955,850 (GRCm39) |
K1201M |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,224,543 (GRCm39) |
S906P |
probably damaging |
Het |
| Npy1r |
T |
C |
8: 67,156,874 (GRCm39) |
V98A |
probably benign |
Het |
| Pate2 |
A |
G |
9: 35,581,889 (GRCm39) |
Y61C |
probably damaging |
Het |
| Pfdn2 |
A |
G |
1: 171,173,310 (GRCm39) |
S11G |
unknown |
Het |
| Prdm1 |
T |
C |
10: 44,334,504 (GRCm39) |
M1V |
probably null |
Het |
| Prelp |
A |
G |
1: 133,842,903 (GRCm39) |
S81P |
possibly damaging |
Het |
| Prss12 |
T |
C |
3: 123,280,764 (GRCm39) |
V483A |
probably damaging |
Het |
| Prss43 |
G |
C |
9: 110,656,955 (GRCm39) |
V154L |
probably damaging |
Het |
| Ptpru |
G |
A |
4: 131,529,855 (GRCm39) |
R618* |
probably null |
Het |
| Rpa1 |
A |
G |
11: 75,203,984 (GRCm39) |
S288P |
probably damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,585,553 (GRCm39) |
E119G |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,920,081 (GRCm39) |
F817L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,910,564 (GRCm39) |
S545C |
possibly damaging |
Het |
| Slit1 |
A |
T |
19: 41,612,988 (GRCm39) |
V844D |
possibly damaging |
Het |
| Tln1 |
G |
T |
4: 43,539,998 (GRCm39) |
A1537D |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,472,027 (GRCm39) |
D73G |
probably damaging |
Het |
| Ucp3 |
T |
C |
7: 100,129,458 (GRCm39) |
S98P |
probably benign |
Het |
| Usp19 |
T |
A |
9: 108,369,931 (GRCm39) |
|
probably null |
Het |
| Vmn2r112 |
T |
C |
17: 22,833,912 (GRCm39) |
F527L |
probably benign |
Het |
| Vmn2r93 |
T |
C |
17: 18,533,473 (GRCm39) |
V459A |
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 |
|
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 |
|
R3736: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'- GTGTCAGTCACAAACATCAGC -3'
(R):5'- TCAGCATGCCACCTTGAAG -3'
Sequencing Primer
(F):5'- GCAGCAATTAAACAAGTCCCTG -3'
(R):5'- TGGCCTGCTAATTAAAACGTGCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation