Incidental Mutation 'R4420:Sugct'
| ID |
327062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sugct
|
| Ensembl Gene |
ENSMUSG00000055137 |
| Gene Name |
succinyl-CoA glutarate-CoA transferase |
| Synonyms |
5033411D12Rik |
| MMRRC Submission |
041141-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.123)
|
| Stock # |
R4420 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
17032057-17869380 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 17627130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 241
(C241Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068545]
|
| AlphaFold |
Q7TNE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068545
AA Change: C241Y
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070759
Gene: ENSMUSG00000055137
AA Change: C241Y
| 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 |
0.1705 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (53/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef17 |
G |
A |
7: 100,531,515 (GRCm39) |
|
probably benign |
Het |
| Atp1b1 |
T |
C |
1: 164,281,127 (GRCm39) |
T53A |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,731,045 (GRCm39) |
Q104R |
probably damaging |
Het |
| Casz1 |
T |
G |
4: 149,033,375 (GRCm39) |
N1382K |
possibly damaging |
Het |
| Chfr |
T |
A |
5: 110,318,746 (GRCm39) |
C585* |
probably null |
Het |
| Chp2 |
T |
C |
7: 121,821,161 (GRCm39) |
F174S |
probably damaging |
Het |
| Dclre1c |
A |
T |
2: 3,434,782 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
G |
6: 73,168,462 (GRCm39) |
V487A |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 66,009,575 (GRCm39) |
R771G |
probably benign |
Het |
| Duox1 |
G |
A |
2: 122,157,607 (GRCm39) |
A578T |
probably benign |
Het |
| Elp3 |
G |
A |
14: 65,818,240 (GRCm39) |
A140V |
probably damaging |
Het |
| Fbrsl1 |
T |
C |
5: 110,526,852 (GRCm39) |
H387R |
possibly damaging |
Het |
| Gnat3 |
T |
C |
5: 18,204,799 (GRCm39) |
S151P |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,634,640 (GRCm39) |
L228H |
probably damaging |
Het |
| Gzmn |
A |
T |
14: 56,403,463 (GRCm39) |
H215Q |
probably benign |
Het |
| Heg1 |
A |
T |
16: 33,547,805 (GRCm39) |
E864V |
probably benign |
Het |
| Hoxb9 |
T |
C |
11: 96,162,807 (GRCm39) |
V147A |
probably benign |
Het |
| Hsf5 |
T |
G |
11: 87,548,130 (GRCm39) |
H604Q |
probably benign |
Het |
| Hus1 |
T |
C |
11: 8,950,133 (GRCm39) |
E196G |
probably damaging |
Het |
| Il12rb2 |
G |
T |
6: 67,293,394 (GRCm39) |
|
probably null |
Het |
| Irs1 |
T |
C |
1: 82,266,171 (GRCm39) |
S682G |
possibly damaging |
Het |
| Jcad |
T |
C |
18: 4,676,032 (GRCm39) |
S1265P |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,098,291 (GRCm39) |
S361G |
possibly damaging |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Nceh1 |
A |
G |
3: 27,295,798 (GRCm39) |
D353G |
probably damaging |
Het |
| Nqo1 |
C |
T |
8: 108,118,749 (GRCm39) |
|
probably null |
Het |
| Or5t7 |
A |
G |
2: 86,507,263 (GRCm39) |
V138A |
possibly damaging |
Het |
| Pcdh7 |
T |
C |
5: 58,286,512 (GRCm39) |
I1196T |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,114,644 (GRCm39) |
V29A |
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,927,736 (GRCm39) |
Y794* |
probably null |
Het |
| Prdx5 |
C |
A |
19: 6,885,332 (GRCm39) |
|
probably null |
Het |
| Psme4 |
C |
T |
11: 30,762,028 (GRCm39) |
T456I |
possibly damaging |
Het |
| Ptprd |
A |
T |
4: 75,957,614 (GRCm39) |
S923R |
possibly damaging |
Het |
| Samd12 |
G |
A |
15: 53,723,655 (GRCm39) |
R13W |
probably damaging |
Het |
| Slc35f4 |
A |
T |
14: 49,551,034 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,997,031 (GRCm39) |
Y530H |
probably damaging |
Het |
| Spata2l |
T |
C |
8: 123,960,768 (GRCm39) |
T174A |
possibly damaging |
Het |
| Tarbp1 |
G |
T |
8: 127,173,819 (GRCm39) |
A965D |
possibly damaging |
Het |
| Tas1r3 |
A |
G |
4: 155,946,789 (GRCm39) |
V272A |
probably damaging |
Het |
| Tas2r117 |
T |
A |
6: 132,780,312 (GRCm39) |
L150* |
probably null |
Het |
| Trip10 |
C |
T |
17: 57,562,448 (GRCm39) |
P322L |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,058,850 (GRCm39) |
H1487Q |
probably damaging |
Het |
| Wdr95 |
G |
A |
5: 149,456,131 (GRCm39) |
V8M |
probably damaging |
Het |
| Zc3h15 |
C |
A |
2: 83,488,356 (GRCm39) |
A98E |
probably damaging |
Het |
| Zfp763 |
T |
G |
17: 33,237,455 (GRCm39) |
K563N |
probably benign |
Het |
| Zmym2 |
G |
A |
14: 57,194,335 (GRCm39) |
D1198N |
probably damaging |
Het |
| Zp1 |
C |
T |
19: 10,892,124 (GRCm39) |
|
probably null |
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 |
|
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'- CATTATGATACAACCATGGAGGATCTG -3'
(R):5'- TCAGATGGCCTTTTCAGGAG -3'
Sequencing Primer
(F):5'- CCATGGAGGATCTGTAAAAACTTC -3'
(R):5'- GCCTTTTCAGGAGAAGAATTTTTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation