Incidental Mutation 'R4768:Suclg2'
ID |
366269 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Suclg2
|
Ensembl Gene |
ENSMUSG00000061838 |
Gene Name |
succinate-Coenzyme A ligase, GDP-forming, beta subunit |
Synonyms |
D6Wsu120e |
MMRRC Submission |
042409-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4768 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
95449990-95695781 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 95543469 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 321
(I321L)
|
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: I272L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000078774 Gene: ENSMUSG00000061838 AA Change: I272L
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: I321L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000144827 Gene: ENSMUSG00000061838 AA Change: I321L
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
A |
G |
3: 153,628,579 (GRCm39) |
Y419H |
probably benign |
Het |
Adam28 |
A |
G |
14: 68,872,264 (GRCm39) |
V326A |
possibly damaging |
Het |
Amdhd1 |
T |
A |
10: 93,370,346 (GRCm39) |
E164V |
possibly damaging |
Het |
Arhgap5 |
T |
C |
12: 52,604,275 (GRCm39) |
L29S |
probably damaging |
Het |
Asb5 |
G |
A |
8: 55,038,031 (GRCm39) |
D185N |
probably benign |
Het |
Ascc3 |
T |
C |
10: 50,576,595 (GRCm39) |
I850T |
probably damaging |
Het |
Atxn1 |
A |
G |
13: 45,711,024 (GRCm39) |
V636A |
probably damaging |
Het |
Bmp4 |
C |
T |
14: 46,623,381 (GRCm39) |
R55Q |
probably damaging |
Het |
Brd8dc |
T |
C |
18: 34,714,005 (GRCm39) |
R207G |
probably damaging |
Het |
Cmas |
T |
C |
6: 142,710,157 (GRCm39) |
|
probably null |
Het |
Dchs1 |
T |
C |
7: 105,420,827 (GRCm39) |
D531G |
possibly damaging |
Het |
Etv1 |
T |
C |
12: 38,877,792 (GRCm39) |
L44P |
probably damaging |
Het |
Fam13c |
T |
A |
10: 70,387,580 (GRCm39) |
I448N |
probably damaging |
Het |
Fcsk |
T |
C |
8: 111,618,766 (GRCm39) |
T331A |
probably benign |
Het |
Fut8 |
A |
G |
12: 77,412,054 (GRCm39) |
K135E |
probably benign |
Het |
Gabrg1 |
A |
G |
5: 70,911,516 (GRCm39) |
F370S |
probably damaging |
Het |
Ighv1-5 |
A |
T |
12: 114,477,143 (GRCm39) |
M53K |
probably damaging |
Het |
Igkv9-120 |
G |
T |
6: 68,027,351 (GRCm39) |
R88S |
possibly damaging |
Het |
Kansl1l |
A |
G |
1: 66,840,292 (GRCm39) |
V336A |
probably damaging |
Het |
Krt27 |
T |
A |
11: 99,240,351 (GRCm39) |
D189V |
probably damaging |
Het |
Marf1 |
A |
T |
16: 13,949,461 (GRCm39) |
F1033I |
possibly damaging |
Het |
Mdfi |
G |
A |
17: 48,135,475 (GRCm39) |
T85M |
probably damaging |
Het |
Mrgpra3 |
C |
A |
7: 47,239,476 (GRCm39) |
R150L |
possibly damaging |
Het |
Mst1r |
C |
A |
9: 107,788,849 (GRCm39) |
T456K |
probably damaging |
Het |
Myh14 |
A |
T |
7: 44,263,099 (GRCm39) |
M1734K |
probably benign |
Het |
Myo1e |
T |
C |
9: 70,277,751 (GRCm39) |
I816T |
possibly damaging |
Het |
Or7d10 |
A |
C |
9: 19,831,841 (GRCm39) |
N112T |
possibly damaging |
Het |
Or8b12 |
T |
C |
9: 37,658,177 (GRCm39) |
L249P |
probably damaging |
Het |
Or8b55 |
T |
A |
9: 38,727,245 (GRCm39) |
Y149N |
probably damaging |
Het |
Or8k28 |
A |
T |
2: 86,285,994 (GRCm39) |
L207* |
probably null |
Het |
Pde4d |
A |
G |
13: 110,070,408 (GRCm39) |
R6G |
probably damaging |
Het |
Pilrb1 |
G |
A |
5: 137,855,788 (GRCm39) |
|
probably benign |
Het |
Prrx1 |
A |
G |
1: 163,085,334 (GRCm39) |
Y199H |
probably damaging |
Het |
Rxfp1 |
T |
C |
3: 79,594,175 (GRCm39) |
D73G |
probably damaging |
Het |
Ryr1 |
G |
T |
7: 28,704,246 (GRCm39) |
|
probably benign |
Het |
Shprh |
A |
G |
10: 11,057,284 (GRCm39) |
E1068G |
probably damaging |
Het |
Slc19a3 |
G |
A |
1: 83,000,834 (GRCm39) |
T61I |
probably damaging |
Het |
Slc9a2 |
G |
A |
1: 40,765,534 (GRCm39) |
R308Q |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,653,316 (GRCm39) |
F53L |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,599,110 (GRCm39) |
|
probably benign |
Het |
Upp2 |
T |
C |
2: 58,667,907 (GRCm39) |
V182A |
probably damaging |
Het |
Vmn2r65 |
A |
G |
7: 84,596,602 (GRCm39) |
L151P |
probably damaging |
Het |
Xylt2 |
T |
C |
11: 94,561,298 (GRCm39) |
D155G |
probably benign |
Het |
Zzz3 |
A |
G |
3: 152,154,420 (GRCm39) |
D557G |
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 |
R3947:Suclg2
|
UTSW |
6 |
95,556,219 (GRCm39) |
splice site |
probably null |
|
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'- TTTCACTCTTGTATCATCTGGAAGC -3'
(R):5'- AGCCAAATTGGTTCCTCTCC -3'
Sequencing Primer
(F):5'- CTTGTATCATCTGGAAGCAGGCG -3'
(R):5'- AGCCAAATTGGTTCCTCTCCTTAAC -3'
|
Posted On |
2015-12-21 |