Incidental Mutation 'IGL02420:Sugct'
| ID |
292615 |
| 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: 0.123)
|
| Stock # |
IGL02420
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
17032057-17869380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 17627053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 267
(V267F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068545]
|
| AlphaFold |
Q7TNE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068545
AA Change: V267F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070759
Gene: ENSMUSG00000055137
AA Change: V267F
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,187,494 (GRCm39) |
N136S |
probably damaging |
Het |
| Adcy8 |
A |
G |
15: 64,659,303 (GRCm39) |
S496P |
probably damaging |
Het |
| Agbl3 |
T |
A |
6: 34,762,242 (GRCm39) |
S81T |
possibly damaging |
Het |
| Apobec1 |
A |
T |
6: 122,558,531 (GRCm39) |
Y75N |
probably benign |
Het |
| Asic2 |
A |
G |
11: 80,772,479 (GRCm39) |
L517P |
probably benign |
Het |
| Atp8a1 |
A |
G |
5: 67,840,126 (GRCm39) |
S752P |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,145,754 (GRCm39) |
Y775C |
probably damaging |
Het |
| C1qtnf5 |
T |
C |
9: 44,019,901 (GRCm39) |
I175T |
probably benign |
Het |
| Ccdc81 |
G |
A |
7: 89,524,946 (GRCm39) |
T545I |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,834,317 (GRCm39) |
E174G |
probably damaging |
Het |
| Chl1 |
G |
A |
6: 103,692,330 (GRCm39) |
V1066M |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,823,103 (GRCm39) |
|
probably null |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyren |
T |
C |
6: 34,851,404 (GRCm39) |
Y150C |
probably damaging |
Het |
| Cysrt1 |
T |
C |
2: 25,129,360 (GRCm39) |
I51V |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,725,702 (GRCm39) |
N69S |
probably benign |
Het |
| Fam83d |
T |
C |
2: 158,627,655 (GRCm39) |
L448P |
probably benign |
Het |
| Gm9631 |
G |
A |
11: 121,834,478 (GRCm39) |
|
|
Het |
| Hmcn1 |
T |
C |
1: 150,598,175 (GRCm39) |
Y1709C |
probably damaging |
Het |
| Inppl1 |
G |
A |
7: 101,481,526 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
T |
C |
4: 129,510,748 (GRCm39) |
T256A |
probably benign |
Het |
| Itprid2 |
T |
C |
2: 79,465,986 (GRCm39) |
S35P |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
| Lyz1 |
A |
T |
10: 117,124,535 (GRCm39) |
C134S |
probably damaging |
Het |
| Mpzl3 |
T |
C |
9: 44,977,815 (GRCm39) |
I141T |
possibly damaging |
Het |
| Mterf1a |
T |
C |
5: 3,941,047 (GRCm39) |
N274D |
probably damaging |
Het |
| Myo18a |
T |
A |
11: 77,709,519 (GRCm39) |
V543D |
possibly damaging |
Het |
| Myo18b |
A |
T |
5: 112,975,852 (GRCm39) |
D1332E |
possibly damaging |
Het |
| Or2r11 |
A |
G |
6: 42,437,110 (GRCm39) |
V281A |
probably benign |
Het |
| Pcdh15 |
A |
T |
10: 74,138,938 (GRCm39) |
D333V |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,757,469 (GRCm39) |
Y494H |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,914,106 (GRCm39) |
N1276S |
probably damaging |
Het |
| Ppig |
T |
C |
2: 69,562,571 (GRCm39) |
V5A |
probably benign |
Het |
| Prag1 |
A |
T |
8: 36,614,580 (GRCm39) |
|
probably benign |
Het |
| Prom1 |
T |
C |
5: 44,220,496 (GRCm39) |
N84S |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,583,929 (GRCm39) |
Y221F |
probably damaging |
Het |
| Qsox2 |
A |
G |
2: 26,110,731 (GRCm39) |
Y162H |
probably benign |
Het |
| Rab2a |
C |
T |
4: 8,572,553 (GRCm39) |
T49M |
possibly damaging |
Het |
| Ring1 |
A |
G |
17: 34,242,122 (GRCm39) |
S96P |
possibly damaging |
Het |
| Ripk3 |
A |
G |
14: 56,022,691 (GRCm39) |
F411S |
probably benign |
Het |
| Rock1 |
T |
C |
18: 10,070,619 (GRCm39) |
|
probably null |
Het |
| Rtn4rl1 |
A |
G |
11: 75,156,645 (GRCm39) |
N359S |
probably damaging |
Het |
| Sufu |
A |
G |
19: 46,413,481 (GRCm39) |
T76A |
probably damaging |
Het |
| Tcf4 |
A |
T |
18: 69,697,210 (GRCm39) |
R29W |
probably damaging |
Het |
| Tnfsf18 |
A |
T |
1: 161,331,158 (GRCm39) |
I103L |
probably benign |
Het |
| Vwf |
A |
G |
6: 125,654,879 (GRCm39) |
E2525G |
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 |
|
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