Incidental Mutation 'R8451:Sugct'
| ID |
654775 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sugct
|
| Ensembl Gene |
ENSMUSG00000055137 |
| Gene Name |
succinyl-CoA glutarate-CoA transferase |
| Synonyms |
5033411D12Rik |
| MMRRC Submission |
067887-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R8451 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
17032057-17869380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17427143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 339
(L339P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068545]
|
| AlphaFold |
Q7TNE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068545
AA Change: L339P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000070759
Gene: ENSMUSG00000055137
AA Change: L339P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
28 |
N/A |
INTRINSIC |
|
Pfam:CoA_transf_3
|
39 |
406 |
3.4e-127 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Acss3 |
T |
C |
10: 106,885,265 (GRCm39) |
H242R |
probably damaging |
Het |
| Ago2 |
G |
T |
15: 73,002,739 (GRCm39) |
D164E |
probably damaging |
Het |
| Arl2bp |
G |
A |
8: 95,393,507 (GRCm39) |
E6K |
unknown |
Het |
| Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,303,663 (GRCm39) |
E249G |
probably damaging |
Het |
| Cep162 |
G |
A |
9: 87,074,903 (GRCm39) |
Q1360* |
probably null |
Het |
| Cep350 |
T |
C |
1: 155,747,780 (GRCm39) |
I2047V |
probably damaging |
Het |
| Cntnap5c |
C |
T |
17: 58,362,687 (GRCm39) |
R347W |
probably damaging |
Het |
| Eif4a3l1 |
T |
A |
6: 136,305,542 (GRCm39) |
M1K |
probably null |
Het |
| Fmo6 |
C |
T |
1: 162,748,174 (GRCm39) |
V297M |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,048,470 (GRCm39) |
V17M |
probably benign |
Het |
| Hs6st1 |
A |
G |
1: 36,108,141 (GRCm39) |
T135A |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Klk1 |
A |
G |
7: 43,878,410 (GRCm39) |
E190G |
probably benign |
Het |
| Map3k21 |
T |
C |
8: 126,671,472 (GRCm39) |
L920P |
probably benign |
Het |
| Mecom |
T |
A |
3: 30,039,519 (GRCm39) |
H180L |
probably benign |
Het |
| Mras |
T |
C |
9: 99,293,548 (GRCm39) |
I31V |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,477,413 (GRCm39) |
D532G |
probably damaging |
Het |
| Nufip2 |
A |
G |
11: 77,583,181 (GRCm39) |
N365S |
probably damaging |
Het |
| Or12j2 |
T |
C |
7: 139,916,518 (GRCm39) |
Y248H |
probably damaging |
Het |
| Or4f47 |
A |
T |
2: 111,972,406 (GRCm39) |
M39L |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,660 (GRCm39) |
I228V |
probably benign |
Het |
| Pgbd1 |
A |
T |
13: 21,607,550 (GRCm39) |
S215T |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,885,625 (GRCm39) |
C34R |
probably benign |
Het |
| S100a7l2 |
A |
T |
3: 90,995,671 (GRCm39) |
M77K |
probably benign |
Het |
| Samd4 |
A |
G |
14: 47,338,888 (GRCm39) |
D703G |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,724,088 (GRCm39) |
N623K |
possibly damaging |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Slc12a9 |
T |
C |
5: 137,326,710 (GRCm39) |
D249G |
probably benign |
Het |
| Slc3a1 |
A |
G |
17: 85,335,924 (GRCm39) |
N22S |
possibly damaging |
Het |
| Tenm3 |
T |
C |
8: 48,740,907 (GRCm39) |
D1192G |
probably damaging |
Het |
| Tinagl1 |
T |
A |
4: 130,061,376 (GRCm39) |
D289V |
probably damaging |
Het |
| Tnrc6b |
C |
A |
15: 80,807,691 (GRCm39) |
P1548T |
probably damaging |
Het |
| Trmt1l |
A |
G |
1: 151,324,039 (GRCm39) |
K152E |
unknown |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,957 (GRCm39) |
L64* |
probably null |
Het |
| Zcchc2 |
T |
A |
1: 105,958,662 (GRCm39) |
N1044K |
probably damaging |
Het |
| Zfp750 |
T |
C |
11: 121,404,135 (GRCm39) |
I247V |
probably benign |
Het |
|
| Other mutations in Sugct |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00725:Sugct
|
APN |
13 |
17,837,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00917:Sugct
|
APN |
13 |
17,032,503 (GRCm39) |
nonsense |
probably null |
|
|
IGL02118:Sugct
|
APN |
13 |
17,627,105 (GRCm39) |
nonsense |
probably null |
|
|
IGL02267:Sugct
|
APN |
13 |
17,819,450 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02285:Sugct
|
APN |
13 |
17,847,181 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02412:Sugct
|
APN |
13 |
17,837,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Sugct
|
APN |
13 |
17,627,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02703:Sugct
|
APN |
13 |
17,627,125 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03098:Sugct
|
UTSW |
13 |
17,846,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0024:Sugct
|
UTSW |
13 |
17,032,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0024:Sugct
|
UTSW |
13 |
17,032,454 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0058:Sugct
|
UTSW |
13 |
17,847,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Sugct
|
UTSW |
13 |
17,627,131 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1709:Sugct
|
UTSW |
13 |
17,847,151 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1780:Sugct
|
UTSW |
13 |
17,627,039 (GRCm39) |
splice site |
probably null |
|
|
R2189:Sugct
|
UTSW |
13 |
17,836,851 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4420:Sugct
|
UTSW |
13 |
17,627,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4763:Sugct
|
UTSW |
13 |
17,837,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5197:Sugct
|
UTSW |
13 |
17,497,861 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5310:Sugct
|
UTSW |
13 |
17,427,145 (GRCm39) |
nonsense |
probably null |
|
|
R5401:Sugct
|
UTSW |
13 |
17,032,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6695:Sugct
|
UTSW |
13 |
17,497,815 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6962:Sugct
|
UTSW |
13 |
17,032,606 (GRCm39) |
splice site |
probably null |
|
|
R6991:Sugct
|
UTSW |
13 |
17,728,965 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7135:Sugct
|
UTSW |
13 |
17,476,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7141:Sugct
|
UTSW |
13 |
17,819,372 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7367:Sugct
|
UTSW |
13 |
17,819,399 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7753:Sugct
|
UTSW |
13 |
17,752,104 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8053:Sugct
|
UTSW |
13 |
17,476,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8234:Sugct
|
UTSW |
13 |
17,032,459 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8336:Sugct
|
UTSW |
13 |
17,032,504 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8351:Sugct
|
UTSW |
13 |
17,427,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8826:Sugct
|
UTSW |
13 |
17,427,180 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9102:Sugct
|
UTSW |
13 |
17,497,833 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9231:Sugct
|
UTSW |
13 |
17,627,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCATGTGACTTAGGCCTAAAG -3'
(R):5'- CTAGAGCTAGGAGGAAGCACTCTG -3'
Sequencing Primer
(F):5'- CATGTGACTTAGGCCTAAAGATCAAC -3'
(R):5'- TGACCCTATCAGGACTACTCGAGTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation