Incidental Mutation 'IGL02285:Sugct'
| ID |
289943 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sugct
|
| Ensembl Gene |
ENSMUSG00000055137 |
| Gene Name |
succinyl-CoA glutarate-CoA transferase |
| Synonyms |
5033411D12Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL02285
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
17032057-17869380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17847181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 34
(D34G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068545]
[ENSMUST00000221598]
|
| AlphaFold |
Q7TNE1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068545
AA Change: D34G
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000070759
Gene: ENSMUSG00000055137
AA Change: D34G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
28 |
N/A |
INTRINSIC |
|
Pfam:CoA_transf_3
|
39 |
406 |
3.4e-127 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221598
|
| 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 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 |
|---|
| Ago3 |
A |
G |
4: 126,244,670 (GRCm39) |
V672A |
possibly damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,187,536 (GRCm39) |
V253D |
possibly damaging |
Het |
| Atg3 |
G |
A |
16: 44,998,680 (GRCm39) |
|
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,819,814 (GRCm39) |
D1557G |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 110,065,921 (GRCm39) |
T732A |
probably damaging |
Het |
| Cert1 |
A |
G |
13: 96,752,990 (GRCm39) |
H348R |
probably benign |
Het |
| Cyp3a13 |
T |
A |
5: 137,908,229 (GRCm39) |
I207F |
probably benign |
Het |
| Dock1 |
T |
G |
7: 134,683,649 (GRCm39) |
|
probably null |
Het |
| Drc7 |
A |
T |
8: 95,797,861 (GRCm39) |
|
probably benign |
Het |
| Drosha |
C |
A |
15: 12,833,950 (GRCm39) |
P18H |
unknown |
Het |
| Fbxl5 |
A |
G |
5: 43,922,690 (GRCm39) |
S243P |
possibly damaging |
Het |
| Filip1 |
A |
G |
9: 79,727,408 (GRCm39) |
C404R |
probably damaging |
Het |
| Gm5745 |
G |
A |
9: 73,082,780 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7808 |
T |
G |
9: 19,839,347 (GRCm39) |
|
probably benign |
Het |
| Gpi-ps |
C |
T |
8: 5,690,373 (GRCm39) |
|
noncoding transcript |
Het |
| Hcn3 |
T |
C |
3: 89,060,119 (GRCm39) |
D175G |
probably damaging |
Het |
| Igkv1-117 |
A |
T |
6: 68,098,519 (GRCm39) |
M23L |
probably benign |
Het |
| Kif26a |
A |
G |
12: 112,123,941 (GRCm39) |
D182G |
probably damaging |
Het |
| Lmbr1 |
A |
G |
5: 29,459,233 (GRCm39) |
|
probably benign |
Het |
| Lypd4 |
T |
A |
7: 24,564,865 (GRCm39) |
Q91L |
probably damaging |
Het |
| Ncoa5 |
C |
T |
2: 164,844,760 (GRCm39) |
A37T |
probably damaging |
Het |
| Or52ad1 |
G |
A |
7: 102,995,245 (GRCm39) |
R297* |
probably null |
Het |
| Or56b1 |
A |
G |
7: 104,284,932 (GRCm39) |
E17G |
probably benign |
Het |
| Or7g17 |
T |
A |
9: 18,768,286 (GRCm39) |
C122S |
possibly damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,148 (GRCm39) |
K8E |
probably damaging |
Het |
| Ppp3ca |
A |
G |
3: 136,634,387 (GRCm39) |
|
probably benign |
Het |
| Ptpn12 |
T |
A |
5: 21,260,711 (GRCm39) |
Q12L |
probably benign |
Het |
| Rpgrip1l |
A |
G |
8: 91,959,535 (GRCm39) |
F1122L |
possibly damaging |
Het |
| Rps15 |
G |
T |
10: 80,129,596 (GRCm39) |
M43I |
probably benign |
Het |
| Rrp15 |
T |
C |
1: 186,453,592 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
A |
T |
10: 8,616,098 (GRCm39) |
M588K |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,943,714 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
A |
G |
6: 6,042,643 (GRCm39) |
V587A |
possibly damaging |
Het |
| Tdpoz2 |
T |
A |
3: 93,559,598 (GRCm39) |
I125F |
probably damaging |
Het |
| Trim52 |
T |
A |
14: 106,344,702 (GRCm39) |
L120Q |
probably damaging |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,711 (GRCm39) |
I144M |
probably damaging |
Het |
| Vmn2r107 |
T |
C |
17: 20,595,823 (GRCm39) |
F792S |
probably damaging |
Het |
| Vsnl1 |
A |
G |
12: 11,436,878 (GRCm39) |
F34L |
probably damaging |
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 |
|
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 |
|
R8451: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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation