Incidental Mutation 'R3947:Suclg2'
ID |
307749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Suclg2
|
Ensembl Gene |
ENSMUSG00000061838 |
Gene Name |
succinate-Coenzyme A ligase, GDP-forming, beta subunit |
Synonyms |
D6Wsu120e |
MMRRC Submission |
040927-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3947 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
95449990-95695781 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 95556219 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144827
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079847]
[ENSMUST00000079847]
[ENSMUST00000204224]
[ENSMUST00000204224]
|
AlphaFold |
Q9Z2I8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000079847
|
SMART Domains |
Protein: ENSMUSP00000078774 Gene: ENSMUSG00000061838
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 null
Transcript: ENSMUST00000079847
|
SMART Domains |
Protein: ENSMUSP00000078774 Gene: ENSMUSG00000061838
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 null
Transcript: ENSMUST00000204224
|
SMART Domains |
Protein: ENSMUSP00000144827 Gene: ENSMUSG00000061838
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 null
Transcript: ENSMUST00000204224
|
SMART Domains |
Protein: ENSMUSP00000144827 Gene: ENSMUSG00000061838
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (32/33) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
T |
A |
14: 54,916,790 (GRCm39) |
Q133L |
possibly damaging |
Het |
Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
C87436 |
T |
A |
6: 86,423,168 (GRCm39) |
H247Q |
probably damaging |
Het |
Cfap43 |
G |
T |
19: 47,754,418 (GRCm39) |
H969N |
probably benign |
Het |
Chst15 |
T |
A |
7: 131,849,604 (GRCm39) |
N446Y |
probably damaging |
Het |
Col4a3 |
T |
A |
1: 82,693,053 (GRCm39) |
I1446N |
probably damaging |
Het |
Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
Fnbp1l |
G |
T |
3: 122,338,228 (GRCm39) |
A481D |
possibly damaging |
Het |
Gm10608 |
TACACACACACACACACACACACACACACACACACACACACACACACACACACACA |
TACACACACACACACACACACACACACACACACACACACACACACACACA |
9: 118,989,730 (GRCm39) |
|
probably benign |
Het |
Grk2 |
G |
A |
19: 4,342,445 (GRCm39) |
T129M |
possibly damaging |
Het |
Ino80d |
G |
T |
1: 63,113,662 (GRCm39) |
Q263K |
probably benign |
Het |
Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,274,213 (GRCm39) |
R6388G |
probably damaging |
Het |
Mtnr1a |
T |
C |
8: 45,540,557 (GRCm39) |
Y173H |
probably damaging |
Het |
Myo5b |
C |
T |
18: 74,828,474 (GRCm39) |
R709W |
probably damaging |
Het |
Nebl |
A |
T |
2: 17,382,917 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or2g1 |
A |
T |
17: 38,107,006 (GRCm39) |
I224L |
probably benign |
Het |
Pex11g |
G |
A |
8: 3,515,787 (GRCm39) |
T82I |
probably benign |
Het |
Pgr |
A |
G |
9: 8,961,453 (GRCm39) |
I842V |
probably benign |
Het |
Pkd1 |
T |
A |
17: 24,797,011 (GRCm39) |
|
probably benign |
Het |
Rbm20 |
T |
C |
19: 53,801,768 (GRCm39) |
I92T |
probably benign |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
Tdrd3 |
A |
T |
14: 87,744,035 (GRCm39) |
D655V |
probably damaging |
Het |
Tex2 |
C |
T |
11: 106,410,829 (GRCm39) |
D896N |
unknown |
Het |
Tmem168 |
C |
A |
6: 13,583,051 (GRCm39) |
R610L |
probably damaging |
Het |
Ttc17 |
A |
G |
2: 94,206,491 (GRCm39) |
|
probably benign |
Het |
Vmn2r99 |
T |
C |
17: 19,599,252 (GRCm39) |
M312T |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,017,902 (GRCm39) |
E2546G |
probably damaging |
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 |
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 |
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'- AATGAACTCAAAGCTGGTGCAG -3'
(R):5'- TCTGGAGGAAAGTTGAGCAGTC -3'
Sequencing Primer
(F):5'- CAGCTTTTGGAGATTATTTTGCAAG -3'
(R):5'- GAGCAGTCTGTTCTAATGAATAGCAG -3'
|
Posted On |
2015-04-17 |