Incidental Mutation 'R6695:Sugct'
| ID |
528550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sugct
|
| Ensembl Gene |
ENSMUSG00000055137 |
| Gene Name |
succinyl-CoA glutarate-CoA transferase |
| Synonyms |
5033411D12Rik |
| MMRRC Submission |
044813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R6695 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
17032057-17869380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 17497815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 286
(N286T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068545]
|
| AlphaFold |
Q7TNE1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068545
AA Change: N286T
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000070759
Gene: ENSMUSG00000055137
AA Change: N286T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
28 |
N/A |
INTRINSIC |
|
Pfam:CoA_transf_3
|
39 |
406 |
3.4e-127 |
PFAM |
|
| Meta Mutation Damage Score |
0.5790 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (45/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd9 |
A |
T |
12: 110,943,497 (GRCm39) |
L179H |
probably benign |
Het |
| Cacna1h |
C |
A |
17: 25,612,714 (GRCm39) |
A370S |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,876,019 (GRCm39) |
I1053F |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,721,230 (GRCm39) |
V1467A |
probably damaging |
Het |
| Cyp4f15 |
T |
A |
17: 32,911,586 (GRCm39) |
L156* |
probably null |
Het |
| Dmwd |
T |
A |
7: 18,814,652 (GRCm39) |
L434Q |
probably damaging |
Het |
| Dtx4 |
T |
A |
19: 12,450,599 (GRCm39) |
R538* |
probably null |
Het |
| Fcgbp |
T |
A |
7: 27,785,695 (GRCm39) |
C377* |
probably null |
Het |
| Galntl6 |
G |
T |
8: 58,880,804 (GRCm39) |
H116Q |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,391,148 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
G |
8: 111,053,092 (GRCm39) |
S255A |
probably benign |
Het |
| Knstrn |
G |
A |
2: 118,644,723 (GRCm39) |
A48T |
probably damaging |
Het |
| Lonrf2 |
T |
C |
1: 38,852,470 (GRCm39) |
D127G |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,272,609 (GRCm39) |
S12P |
possibly damaging |
Het |
| Man2c1 |
A |
T |
9: 57,048,875 (GRCm39) |
H822L |
probably benign |
Het |
| Map3k13 |
G |
T |
16: 21,741,028 (GRCm39) |
G785V |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,219,366 (GRCm39) |
H454R |
probably damaging |
Het |
| Mib2 |
G |
A |
4: 155,745,629 (GRCm39) |
R61C |
probably damaging |
Het |
| Muc15 |
A |
T |
2: 110,561,616 (GRCm39) |
L17F |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,114,652 (GRCm39) |
I879V |
probably benign |
Het |
| Nomo1 |
T |
A |
7: 45,715,885 (GRCm39) |
S751T |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,267,117 (GRCm39) |
S110C |
probably benign |
Het |
| Or5b24 |
A |
T |
19: 12,912,764 (GRCm39) |
I221L |
possibly damaging |
Het |
| Or5g27 |
A |
G |
2: 85,409,793 (GRCm39) |
D70G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,256 (GRCm39) |
N412S |
probably benign |
Het |
| Plk5 |
T |
C |
10: 80,196,035 (GRCm39) |
S235P |
probably benign |
Het |
| Ppm1j |
A |
G |
3: 104,692,802 (GRCm39) |
D437G |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,633,262 (GRCm39) |
E1148G |
probably damaging |
Het |
| Rad9b |
T |
C |
5: 122,489,754 (GRCm39) |
N43S |
probably damaging |
Het |
| Rc3h2 |
A |
C |
2: 37,304,673 (GRCm39) |
I29S |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Spdl1 |
T |
A |
11: 34,713,830 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
T |
1: 174,071,608 (GRCm39) |
|
probably null |
Het |
| Stk32c |
A |
T |
7: 138,702,880 (GRCm39) |
V53E |
probably damaging |
Het |
| Strc |
A |
T |
2: 121,207,705 (GRCm39) |
F555L |
probably benign |
Het |
| Swsap1 |
A |
T |
9: 21,867,971 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
T |
A |
17: 14,894,426 (GRCm39) |
D807V |
possibly damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,763,974 (GRCm39) |
D492G |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,514,018 (GRCm39) |
S1184T |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,022,436 (GRCm39) |
Y945N |
probably benign |
Het |
| Usp54 |
G |
T |
14: 20,610,937 (GRCm39) |
A1293D |
possibly damaging |
Het |
| Vps52 |
A |
T |
17: 34,182,173 (GRCm39) |
K516* |
probably null |
Het |
| Zbtb17 |
T |
A |
4: 141,189,110 (GRCm39) |
V10D |
probably damaging |
Het |
| Zfp607b |
T |
C |
7: 27,403,464 (GRCm39) |
V640A |
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 |
|
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 |
|
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'- TACCAGCCCAGAAATGGTCC -3'
(R):5'- CCTGTCCAAAGTTCTACAGGG -3'
Sequencing Primer
(F):5'- TGGTCCCACCCACAAGG -3'
(R):5'- TGTGTTATGAAACATAAGCCTAGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation