Incidental Mutation 'R2331:Gstcd'
| ID |
245865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gstcd
|
| Ensembl Gene |
ENSMUSG00000028018 |
| Gene Name |
glutathione S-transferase, C-terminal domain containing |
| Synonyms |
4933434L15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2331 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
132687513-132797794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132704641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 538
(C538R)
|
| 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: C538R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029651
Gene: ENSMUSG00000028018
AA Change: C538R
| 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: C538R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079421
Gene: ENSMUSG00000028018
AA Change: C538R
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
C |
T |
1: 38,243,971 (GRCm39) |
|
probably null |
Het |
| Cadps |
A |
G |
14: 12,603,692 (GRCm38) |
I376T |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Gm10295 |
A |
C |
7: 71,000,437 (GRCm39) |
S48A |
unknown |
Het |
| Hcn3 |
A |
T |
3: 89,055,397 (GRCm39) |
S617T |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,458,089 (GRCm39) |
I752V |
probably benign |
Het |
| Itgb7 |
G |
T |
15: 102,131,983 (GRCm39) |
T200K |
probably damaging |
Het |
| Lcn11 |
C |
A |
2: 25,670,188 (GRCm39) |
T177K |
possibly damaging |
Het |
| Lsm14a |
A |
G |
7: 34,056,915 (GRCm39) |
V241A |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,662,543 (GRCm39) |
K1075E |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,265 (GRCm39) |
I48V |
probably benign |
Het |
| Or4d10c |
C |
A |
19: 12,065,522 (GRCm39) |
L211F |
probably benign |
Het |
| P4hb |
T |
C |
11: 120,459,106 (GRCm39) |
N129S |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,214,005 (GRCm39) |
|
probably null |
Het |
| Ppp3ca |
T |
C |
3: 136,503,580 (GRCm39) |
M51T |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,499,983 (GRCm39) |
V353A |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Sh3rf2 |
T |
C |
18: 42,186,928 (GRCm39) |
F16L |
probably benign |
Het |
| Sparcl1 |
A |
G |
5: 104,233,660 (GRCm39) |
L563P |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,858,224 (GRCm39) |
|
probably null |
Het |
| Sult2a6 |
A |
T |
7: 13,959,795 (GRCm39) |
M246K |
possibly damaging |
Het |
| Trpv5 |
A |
G |
6: 41,636,902 (GRCm39) |
S399P |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,264,011 (GRCm39) |
F1006L |
possibly damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Wdr72 |
A |
G |
9: 74,055,608 (GRCm39) |
Y279C |
probably 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 |
|
|
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 |
|
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'- TCACTGCAACTTTAGCTTTTGT -3'
(R):5'- ACACAGAATGGCATTAATCTACCT -3'
Sequencing Primer
(F):5'- GAAACAGGGTTTCTCTATGTAGCC -3'
(R):5'- AAAAGGTGCTGGCTTCTACC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation