Incidental Mutation 'R2189:Sugct'
| ID |
237987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sugct
|
| Ensembl Gene |
ENSMUSG00000055137 |
| Gene Name |
succinyl-CoA glutarate-CoA transferase |
| Synonyms |
5033411D12Rik |
| MMRRC Submission |
040191-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R2189 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
17032057-17869380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17836851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 104
(I104V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068545]
[ENSMUST00000221598]
|
| AlphaFold |
Q7TNE1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068545
AA Change: I104V
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000070759
Gene: ENSMUSG00000055137
AA Change: I104V
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
C |
7: 78,747,839 (GRCm39) |
G870A |
probably damaging |
Het |
| Adamtsl2 |
T |
C |
2: 26,971,750 (GRCm39) |
W12R |
probably benign |
Het |
| Bsph1 |
G |
A |
7: 13,204,254 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,863,431 (GRCm39) |
H1200Q |
possibly damaging |
Het |
| Clptm1 |
A |
T |
7: 19,371,070 (GRCm39) |
Y355* |
probably null |
Het |
| Cry2 |
T |
C |
2: 92,242,037 (GRCm39) |
E572G |
possibly damaging |
Het |
| Dlk1 |
G |
A |
12: 109,420,975 (GRCm39) |
|
probably null |
Het |
| Eral1 |
A |
G |
11: 77,966,657 (GRCm39) |
V201A |
probably benign |
Het |
| Esrp1 |
A |
T |
4: 11,357,603 (GRCm39) |
M503K |
probably benign |
Het |
| Fam83e |
G |
T |
7: 45,371,607 (GRCm39) |
M1I |
probably null |
Het |
| Flt4 |
G |
A |
11: 49,526,525 (GRCm39) |
A835T |
probably benign |
Het |
| H2bc15 |
A |
G |
13: 21,938,447 (GRCm39) |
D52G |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,903,244 (GRCm39) |
S562G |
probably null |
Het |
| Icosl |
A |
G |
10: 77,909,759 (GRCm39) |
T235A |
possibly damaging |
Het |
| Itga6 |
A |
G |
2: 71,655,961 (GRCm39) |
D295G |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lipa |
A |
T |
19: 34,502,199 (GRCm39) |
L15Q |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,667,297 (GRCm39) |
E218G |
possibly damaging |
Het |
| Mdga2 |
A |
G |
12: 66,519,970 (GRCm39) |
|
probably null |
Het |
| Mmadhc |
A |
C |
2: 50,178,958 (GRCm39) |
C153W |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
| Nlrp1b |
T |
A |
11: 71,060,621 (GRCm39) |
Q729L |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,333,924 (GRCm39) |
Q389L |
probably benign |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,412 (GRCm39) |
D76G |
probably damaging |
Het |
| Or5p4 |
A |
T |
7: 107,680,243 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or5p50 |
T |
C |
7: 107,421,822 (GRCm39) |
I285V |
probably benign |
Het |
| Pml |
T |
C |
9: 58,142,157 (GRCm39) |
N225S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Scap |
T |
A |
9: 110,206,761 (GRCm39) |
I402N |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,743,908 (GRCm39) |
L886P |
probably damaging |
Het |
| Tmem200c |
A |
G |
17: 69,147,681 (GRCm39) |
Q88R |
probably damaging |
Het |
| Tnfrsf1a |
T |
A |
6: 125,334,768 (GRCm39) |
L14Q |
probably benign |
Het |
| Tnk2 |
C |
T |
16: 32,490,239 (GRCm39) |
L381F |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,254,290 (GRCm39) |
V1454I |
probably benign |
Het |
| V1ra8 |
A |
C |
6: 90,179,944 (GRCm39) |
D49A |
probably damaging |
Het |
| Vmn2r5 |
A |
C |
3: 64,417,014 (GRCm39) |
M48R |
probably benign |
Het |
| Yars1 |
A |
G |
4: 129,099,982 (GRCm39) |
I227V |
probably damaging |
Het |
| Zfp850 |
C |
A |
7: 27,688,480 (GRCm39) |
R576L |
probably benign |
Het |
| Zfpm2 |
T |
A |
15: 40,964,579 (GRCm39) |
F223I |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTATGCTTGCTTAAACAATGTC -3'
(R):5'- GTATGCTTCTTGGTGTCAGATAAAC -3'
Sequencing Primer
(F):5'- AAGCCATACTTCCTGGATCCAGTG -3'
(R):5'- CTTCTTGGTGTCAGATAAACATTTTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation