Incidental Mutation 'IGL00725:Sugct'
| ID |
13260 |
| 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 # |
IGL00725
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
17032057-17869380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17837357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 91
(S91R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068545]
[ENSMUST00000221598]
|
| AlphaFold |
Q7TNE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068545
AA Change: S91R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070759
Gene: ENSMUSG00000055137
AA Change: S91R
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp11b |
G |
T |
3: 35,881,222 (GRCm39) |
R593L |
probably damaging |
Het |
| Axl |
A |
T |
7: 25,463,908 (GRCm39) |
D566E |
probably damaging |
Het |
| Ccp110 |
A |
G |
7: 118,329,946 (GRCm39) |
D912G |
probably damaging |
Het |
| Clca3b |
C |
T |
3: 144,544,923 (GRCm39) |
D355N |
probably benign |
Het |
| Clock |
A |
C |
5: 76,402,260 (GRCm39) |
Y133* |
probably null |
Het |
| Cntn4 |
T |
A |
6: 106,639,616 (GRCm39) |
V582E |
probably damaging |
Het |
| Ddx1 |
A |
G |
12: 13,277,460 (GRCm39) |
|
probably benign |
Het |
| Ddx1 |
A |
G |
12: 13,295,691 (GRCm39) |
L43P |
probably damaging |
Het |
| Dnase2b |
G |
A |
3: 146,302,133 (GRCm39) |
T8I |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,208,328 (GRCm39) |
|
probably benign |
Het |
| Gtf3c2 |
A |
G |
5: 31,331,752 (GRCm39) |
V22A |
probably damaging |
Het |
| Ifi208 |
T |
C |
1: 173,510,427 (GRCm39) |
I194T |
possibly damaging |
Het |
| Krt9 |
T |
A |
11: 100,080,832 (GRCm39) |
E340V |
probably damaging |
Het |
| Nup58 |
G |
T |
14: 60,480,889 (GRCm39) |
T152K |
possibly damaging |
Het |
| Otog |
A |
G |
7: 45,923,516 (GRCm39) |
S1050G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,634,503 (GRCm39) |
N3580S |
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,836,137 (GRCm39) |
S392P |
probably damaging |
Het |
| Sestd1 |
T |
C |
2: 77,018,866 (GRCm39) |
I647V |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,344,922 (GRCm38) |
Y1227S |
possibly damaging |
Het |
| Synpo |
C |
T |
18: 60,737,149 (GRCm39) |
V27I |
probably damaging |
Het |
| Tcp11l2 |
T |
C |
10: 84,430,574 (GRCm39) |
I233T |
possibly damaging |
Het |
| Vwde |
A |
G |
6: 13,187,411 (GRCm39) |
V692A |
probably benign |
Het |
|
| Other mutations in Sugct |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation