Incidental Mutation 'R6106:Gstcd'
| ID |
485499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gstcd
|
| Ensembl Gene |
ENSMUSG00000028018 |
| Gene Name |
glutathione S-transferase, C-terminal domain containing |
| Synonyms |
4933434L15Rik |
| MMRRC Submission |
044256-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
132687513-132797794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 132704675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 526
(E526D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079421
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029651]
[ENSMUST00000080583]
|
| AlphaFold |
Q5RL51 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029651
AA Change: E526D
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000029651
Gene: ENSMUSG00000028018
AA Change: E526D
| 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 benign
Transcript: ENSMUST00000080583
AA Change: E526D
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000079421
Gene: ENSMUSG00000028018
AA Change: E526D
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160402
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161577
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,879,838 (GRCm39) |
E726G |
probably damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,246,622 (GRCm39) |
I641V |
possibly damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,931 (GRCm39) |
R336* |
probably null |
Het |
| Bfsp2 |
T |
A |
9: 103,357,023 (GRCm39) |
T135S |
probably benign |
Het |
| Calhm2 |
A |
T |
19: 47,121,501 (GRCm39) |
Y223N |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,775,325 (GRCm39) |
E960G |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,917,073 (GRCm39) |
S610P |
probably benign |
Het |
| Cdon |
T |
A |
9: 35,366,704 (GRCm39) |
Y193* |
probably null |
Het |
| Cept1 |
A |
T |
3: 106,410,992 (GRCm39) |
H400Q |
probably benign |
Het |
| Cfap144 |
T |
C |
11: 58,687,427 (GRCm39) |
E66G |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,484,434 (GRCm39) |
N1197K |
probably benign |
Het |
| Cnot8 |
T |
C |
11: 58,004,816 (GRCm39) |
S172P |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,383,404 (GRCm39) |
I1794T |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,652,493 (GRCm39) |
T1105A |
possibly damaging |
Het |
| Fam193a |
A |
T |
5: 34,616,374 (GRCm39) |
T564S |
possibly damaging |
Het |
| Galnt1 |
G |
A |
18: 24,387,720 (GRCm39) |
V154I |
probably benign |
Het |
| Ighv1-42 |
A |
C |
12: 114,900,907 (GRCm39) |
S59R |
probably benign |
Het |
| Morn3 |
A |
G |
5: 123,184,823 (GRCm39) |
C6R |
possibly damaging |
Het |
| Nrdc |
A |
T |
4: 108,901,782 (GRCm39) |
K617M |
probably damaging |
Het |
| Or2aj4 |
A |
G |
16: 19,385,009 (GRCm39) |
L208P |
probably damaging |
Het |
| Or51ai2 |
A |
G |
7: 103,587,400 (GRCm39) |
H271R |
probably benign |
Het |
| Or8b36 |
T |
A |
9: 37,937,762 (GRCm39) |
I220N |
probably damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,252 (GRCm39) |
M245T |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,056 (GRCm39) |
N462S |
probably damaging |
Het |
| Pfpl |
G |
T |
19: 12,406,825 (GRCm39) |
D359Y |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,699,299 (GRCm39) |
V34A |
probably benign |
Het |
| Pigu |
A |
T |
2: 155,139,116 (GRCm39) |
I313N |
possibly damaging |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Psg16 |
T |
A |
7: 16,829,091 (GRCm39) |
F225Y |
possibly damaging |
Het |
| Setdb2 |
T |
A |
14: 59,660,898 (GRCm39) |
K82* |
probably null |
Het |
| Sgms1 |
A |
G |
19: 32,101,825 (GRCm39) |
S394P |
possibly damaging |
Het |
| Slc16a1 |
T |
C |
3: 104,560,310 (GRCm39) |
L205P |
probably benign |
Het |
| Slc19a1 |
T |
A |
10: 76,880,603 (GRCm39) |
I380N |
probably damaging |
Het |
| Snx32 |
A |
G |
19: 5,548,042 (GRCm39) |
I131T |
probably benign |
Het |
| Sorbs3 |
T |
C |
14: 70,430,053 (GRCm39) |
|
probably null |
Het |
| Stc2 |
T |
A |
11: 31,310,392 (GRCm39) |
I215L |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,230,302 (GRCm39) |
A84T |
probably damaging |
Het |
| Tomm34 |
A |
G |
2: 163,902,911 (GRCm39) |
M133T |
probably benign |
Het |
| Usp43 |
A |
G |
11: 67,770,733 (GRCm39) |
S634P |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,661,749 (GRCm39) |
R689* |
probably null |
Het |
| Vmn2r9 |
C |
T |
5: 108,992,902 (GRCm39) |
R536Q |
probably benign |
Het |
| Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
| Zfhx2 |
T |
A |
14: 55,305,767 (GRCm39) |
|
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,725 (GRCm39) |
K349E |
probably damaging |
Het |
| Zfp608 |
G |
T |
18: 55,120,944 (GRCm39) |
H214Q |
possibly damaging |
Het |
| Zfp619 |
T |
C |
7: 39,184,558 (GRCm39) |
V196A |
probably benign |
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 |
|
|
R0378:Gstcd
|
UTSW |
3 |
132,692,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CAAATCTCACTGCAACTTTAGCT -3'
(R):5'- GACACAGAATGGCATTAATCTACCT -3'
Sequencing Primer
(F):5'- GAAACAGGGTTTCTCTATGTAGCC -3'
(R):5'- AAAAGGTGCTGGCTTCTACC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation