Incidental Mutation 'IGL00917:Sugct'
| ID |
28843 |
| 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 # |
IGL00917
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
17032057-17869380 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 17032503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 416
(Y416*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068545]
|
| AlphaFold |
Q7TNE1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068545
AA Change: Y416*
|
| SMART Domains |
Protein: ENSMUSP00000070759
Gene: ENSMUSG00000055137
AA Change: Y416*
| 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 |
noncoding transcript
Transcript: ENSMUST00000157247
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,241,107 (GRCm39) |
V26E |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 56,011,120 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
C |
T |
5: 81,841,421 (GRCm39) |
T766I |
possibly damaging |
Het |
| Atad2b |
A |
T |
12: 5,015,837 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,216,453 (GRCm39) |
S664R |
probably benign |
Het |
| Cand1 |
A |
C |
10: 119,046,841 (GRCm39) |
I883S |
possibly damaging |
Het |
| Cfap53 |
A |
G |
18: 74,432,367 (GRCm39) |
D85G |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,081,909 (GRCm39) |
R514Q |
possibly damaging |
Het |
| Cnst |
T |
C |
1: 179,452,557 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,661,453 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
A |
C |
5: 122,007,168 (GRCm39) |
L831R |
probably null |
Het |
| Elf2 |
T |
A |
3: 51,215,467 (GRCm39) |
|
probably benign |
Het |
| Frey1 |
T |
A |
2: 92,213,563 (GRCm39) |
S39T |
probably benign |
Het |
| Glp1r |
A |
G |
17: 31,138,443 (GRCm39) |
|
probably benign |
Het |
| Hus1b |
A |
G |
13: 31,131,527 (GRCm39) |
M44T |
probably benign |
Het |
| Mbd6 |
A |
G |
10: 127,119,988 (GRCm39) |
|
probably benign |
Het |
| Med31 |
T |
A |
11: 72,102,905 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
C |
T |
6: 60,952,894 (GRCm39) |
Q392* |
probably null |
Het |
| Mrpl3 |
T |
G |
9: 104,934,240 (GRCm39) |
V121G |
probably damaging |
Het |
| Or10am5 |
A |
G |
7: 6,517,577 (GRCm39) |
S284P |
probably damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,649 (GRCm39) |
M116K |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,968,969 (GRCm39) |
V879A |
possibly damaging |
Het |
| Pkn2 |
G |
T |
3: 142,559,386 (GRCm39) |
D46E |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,557,428 (GRCm39) |
C2244S |
probably damaging |
Het |
| Prss50 |
T |
A |
9: 110,691,474 (GRCm39) |
H259Q |
possibly damaging |
Het |
| Rab8b |
C |
T |
9: 66,761,969 (GRCm39) |
W102* |
probably null |
Het |
| Rad54l2 |
A |
T |
9: 106,587,638 (GRCm39) |
L709Q |
possibly damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,592,535 (GRCm39) |
V471A |
probably benign |
Het |
| Rbms3 |
A |
G |
9: 116,939,183 (GRCm39) |
S27P |
probably damaging |
Het |
| Rpl35a |
A |
G |
16: 32,879,101 (GRCm39) |
K73E |
possibly damaging |
Het |
| Top2b |
A |
G |
14: 16,407,354 (GRCm38) |
I713V |
probably benign |
Het |
| Unc79 |
A |
T |
12: 103,054,766 (GRCm39) |
R777S |
possibly damaging |
Het |
| Vps37a |
T |
A |
8: 40,993,779 (GRCm39) |
M258K |
probably benign |
Het |
| Zfp944 |
G |
A |
17: 22,558,765 (GRCm39) |
L161F |
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 |
|
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 |
2013-04-17 |
Incidental Mutation