Incidental Mutation 'R0378:Gstcd'
| ID |
36457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gstcd
|
| Ensembl Gene |
ENSMUSG00000028018 |
| Gene Name |
glutathione S-transferase, C-terminal domain containing |
| Synonyms |
4933434L15Rik |
| MMRRC Submission |
038584-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0378 (G1)
|
| Quality Score |
83 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
132687513-132797794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 132692169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 582
(L582H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029651]
[ENSMUST00000080583]
|
| AlphaFold |
Q5RL51 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029651
AA Change: L582H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029651
Gene: ENSMUSG00000028018
AA Change: L582H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
229 |
N/A |
INTRINSIC |
|
Pfam:GidB
|
417 |
515 |
9e-9 |
PFAM |
|
Pfam:Methyltransf_32
|
424 |
548 |
1.1e-15 |
PFAM |
|
Pfam:MTS
|
430 |
508 |
5.3e-6 |
PFAM |
|
Pfam:Methyltransf_31
|
440 |
571 |
2.6e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080583
AA Change: L582H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079421
Gene: ENSMUSG00000028018
AA Change: L582H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
229 |
N/A |
INTRINSIC |
|
Pfam:GidB
|
418 |
516 |
1.5e-8 |
PFAM |
|
Pfam:Methyltransf_32
|
424 |
548 |
1.1e-15 |
PFAM |
|
Pfam:Methyltransf_31
|
440 |
569 |
2.5e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.3957 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
95% (40/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,469,749 (GRCm39) |
R651L |
probably damaging |
Het |
| Amd1 |
T |
C |
10: 40,165,380 (GRCm39) |
D317G |
possibly damaging |
Het |
| Artn |
A |
G |
4: 117,784,815 (GRCm39) |
|
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,471,604 (GRCm39) |
V988E |
probably benign |
Het |
| Cyp2c65 |
G |
T |
19: 39,061,662 (GRCm39) |
C216F |
probably benign |
Het |
| Cyp3a11 |
T |
C |
5: 145,805,417 (GRCm39) |
E200G |
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,923,652 (GRCm39) |
K330N |
probably damaging |
Het |
| Duox2 |
C |
A |
2: 122,115,064 (GRCm39) |
V1138L |
probably benign |
Het |
| Erc2 |
A |
G |
14: 27,733,651 (GRCm39) |
D567G |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,393,139 (GRCm39) |
|
probably null |
Het |
| Foxa3 |
A |
G |
7: 18,757,294 (GRCm39) |
Y17H |
probably damaging |
Het |
| Fto |
T |
C |
8: 92,200,940 (GRCm39) |
S324P |
probably damaging |
Het |
| Get3 |
A |
T |
8: 85,751,893 (GRCm39) |
M1K |
probably null |
Het |
| Gls2 |
T |
G |
10: 128,043,180 (GRCm39) |
L457R |
probably benign |
Het |
| Gtf3c1 |
G |
A |
7: 125,246,786 (GRCm39) |
R1508* |
probably null |
Het |
| Kif21a |
T |
C |
15: 90,853,977 (GRCm39) |
|
probably null |
Het |
| Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
| Lgr5 |
T |
C |
10: 115,290,404 (GRCm39) |
D456G |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,483,305 (GRCm39) |
S186P |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,042,423 (GRCm39) |
D384G |
possibly damaging |
Het |
| Ncf4 |
T |
C |
15: 78,137,503 (GRCm39) |
V93A |
probably damaging |
Het |
| Oas1f |
T |
G |
5: 120,994,489 (GRCm39) |
C337G |
probably damaging |
Het |
| Or10al3 |
A |
G |
17: 38,011,932 (GRCm39) |
M124V |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,429 (GRCm39) |
F116Y |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,872 (GRCm39) |
L214H |
probably damaging |
Het |
| Pwwp3a |
C |
A |
10: 80,074,713 (GRCm39) |
|
probably null |
Het |
| Rasl10b |
T |
C |
11: 83,309,519 (GRCm39) |
S159P |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smg8 |
C |
A |
11: 86,971,249 (GRCm39) |
D841Y |
probably damaging |
Het |
| Sox7 |
T |
C |
14: 64,181,398 (GRCm39) |
V65A |
probably damaging |
Het |
| Sp140 |
C |
T |
1: 85,547,772 (GRCm39) |
|
probably benign |
Het |
| Srsf10 |
A |
G |
4: 135,590,501 (GRCm39) |
Y142C |
possibly damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tcerg1l |
A |
G |
7: 137,878,384 (GRCm39) |
V326A |
probably benign |
Het |
| Tcl1b5 |
T |
A |
12: 105,145,326 (GRCm39) |
W97R |
probably damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,856 (GRCm39) |
R198G |
possibly damaging |
Het |
| Ube2ql1 |
T |
A |
13: 69,887,017 (GRCm39) |
Q148L |
possibly damaging |
Het |
| Vmn1r5 |
A |
T |
6: 56,962,570 (GRCm39) |
I82L |
probably benign |
Het |
| Wdr6 |
A |
T |
9: 108,453,063 (GRCm39) |
S273R |
probably damaging |
Het |
| Ylpm1 |
C |
T |
12: 85,043,850 (GRCm39) |
|
probably benign |
Het |
| Zfp90 |
G |
A |
8: 107,152,138 (GRCm39) |
R617Q |
possibly damaging |
Het |
|
| Other mutations in Gstcd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01540:Gstcd
|
APN |
3 |
132,692,175 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01800:Gstcd
|
APN |
3 |
132,790,335 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02434:Gstcd
|
APN |
3 |
132,701,963 (GRCm39) |
splice site |
probably benign |
|
|
IGL02720:Gstcd
|
APN |
3 |
132,777,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0367:Gstcd
|
UTSW |
3 |
132,692,138 (GRCm39) |
splice site |
probably benign |
|
|
R0382:Gstcd
|
UTSW |
3 |
132,692,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0465:Gstcd
|
UTSW |
3 |
132,688,905 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1295:Gstcd
|
UTSW |
3 |
132,711,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Gstcd
|
UTSW |
3 |
132,688,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2056:Gstcd
|
UTSW |
3 |
132,787,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2331:Gstcd
|
UTSW |
3 |
132,704,641 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2513:Gstcd
|
UTSW |
3 |
132,788,082 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2513:Gstcd
|
UTSW |
3 |
132,788,081 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R3547:Gstcd
|
UTSW |
3 |
132,790,599 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4022:Gstcd
|
UTSW |
3 |
132,787,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4713:Gstcd
|
UTSW |
3 |
132,688,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4877:Gstcd
|
UTSW |
3 |
132,711,314 (GRCm39) |
splice site |
probably benign |
|
|
R5152:Gstcd
|
UTSW |
3 |
132,790,717 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5165:Gstcd
|
UTSW |
3 |
132,790,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6106:Gstcd
|
UTSW |
3 |
132,704,675 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6177:Gstcd
|
UTSW |
3 |
132,787,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7100:Gstcd
|
UTSW |
3 |
132,790,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7264:Gstcd
|
UTSW |
3 |
132,790,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7785:Gstcd
|
UTSW |
3 |
132,787,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7786:Gstcd
|
UTSW |
3 |
132,787,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7972:Gstcd
|
UTSW |
3 |
132,777,894 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7975:Gstcd
|
UTSW |
3 |
132,777,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Gstcd
|
UTSW |
3 |
132,787,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8036:Gstcd
|
UTSW |
3 |
132,787,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8088:Gstcd
|
UTSW |
3 |
132,787,868 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8716:Gstcd
|
UTSW |
3 |
132,688,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8722:Gstcd
|
UTSW |
3 |
132,777,822 (GRCm39) |
nonsense |
probably null |
|
|
R9276:Gstcd
|
UTSW |
3 |
132,777,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9575:Gstcd
|
UTSW |
3 |
132,704,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9789:Gstcd
|
UTSW |
3 |
132,790,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCAGTCATAATGGCTAATGTGCTGC -3'
(R):5'- CAGTCAACTTGACGGGAAGAAGTCAC -3'
Sequencing Primer
(F):5'- GCTAATGTGCTGCATTACAGTTC -3'
(R):5'- AGGATTGCTCTTTTCAGCTACTC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation