Incidental Mutation 'IGL01892:Suclg2'
| ID |
179267 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01892
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
95449990-95695781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 95556169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 237
(D237E)
|
| 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: D188E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000078774
Gene: ENSMUSG00000061838
AA Change: D188E
| 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 |
noncoding transcript
Transcript: ENSMUST00000203071
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204224
AA Change: D237E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144827
Gene: ENSMUSG00000061838
AA Change: D237E
| 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 |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cplane1 |
A |
T |
15: 8,271,749 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
T |
A |
19: 39,722,788 (GRCm39) |
E253D |
probably benign |
Het |
| Gbp2b |
A |
G |
3: 142,309,381 (GRCm39) |
D164G |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Lct |
G |
T |
1: 128,235,342 (GRCm39) |
T555N |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,386,587 (GRCm39) |
H655Q |
possibly damaging |
Het |
| Or52a24 |
A |
T |
7: 103,381,687 (GRCm39) |
M185L |
possibly damaging |
Het |
| Or8b57 |
C |
A |
9: 40,004,114 (GRCm39) |
L45F |
probably damaging |
Het |
| Pglyrp4 |
A |
G |
3: 90,646,348 (GRCm39) |
N293S |
probably benign |
Het |
| Pofut2 |
C |
A |
10: 77,101,717 (GRCm39) |
D251E |
probably benign |
Het |
| Prdm2 |
T |
C |
4: 142,860,974 (GRCm39) |
E772G |
probably damaging |
Het |
| Prkd3 |
A |
T |
17: 79,279,930 (GRCm39) |
D254E |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Pwp2 |
T |
C |
10: 78,014,841 (GRCm39) |
Y381C |
probably damaging |
Het |
| Rasgrp1 |
G |
A |
2: 117,124,323 (GRCm39) |
T293M |
probably damaging |
Het |
| Snd1 |
G |
A |
6: 28,888,123 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,729,431 (GRCm39) |
N1509S |
probably benign |
Het |
| Thbd |
A |
T |
2: 148,248,988 (GRCm39) |
H293Q |
possibly damaging |
Het |
| Tie1 |
T |
A |
4: 118,333,115 (GRCm39) |
Y871F |
probably benign |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,360 (GRCm39) |
V252D |
probably benign |
Het |
| Vmn1r60 |
C |
A |
7: 5,547,309 (GRCm39) |
V264F |
probably benign |
Het |
| Vmn1r68 |
T |
C |
7: 10,261,334 (GRCm39) |
T255A |
possibly damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,718,690 (GRCm39) |
V458E |
probably benign |
Het |
| Vmn2r9 |
A |
T |
5: 108,995,700 (GRCm39) |
V316D |
probably damaging |
Het |
| Wfdc15b |
A |
T |
2: 164,057,388 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Suclg2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation