Incidental Mutation 'R2398:Gzmc'
| ID |
248614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gzmc
|
| Ensembl Gene |
ENSMUSG00000079186 |
| Gene Name |
granzyme C |
| Synonyms |
Ctla5, CCP2, Ctla-5 |
| MMRRC Submission |
040365-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R2398 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56468898-56472113 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56470228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 90
(I90F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015585]
|
| AlphaFold |
P08882 |
| PDB Structure |
Structure of GrC [X-RAY DIFFRACTION]
Structure of GrC mutant E192R/E193G [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015585
AA Change: I90F
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000015585
Gene: ENSMUSG00000079186
AA Change: I90F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
20 |
241 |
2.05e-80 |
SMART |
|
| Meta Mutation Damage Score |
0.5439 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate a mature protein product. This product, expressed by activated T cells, may induce apoptosis of target cells. This gene is present in a gene cluster with other members of the granzyme subfamily on chromosome 14. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,872 (GRCm39) |
D160G |
possibly damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,499,035 (GRCm39) |
S208P |
probably benign |
Het |
| Ap3b2 |
A |
G |
7: 81,126,943 (GRCm39) |
F269S |
probably damaging |
Het |
| Ap3d1 |
G |
A |
10: 80,555,006 (GRCm39) |
Q440* |
probably null |
Het |
| Cog2 |
T |
C |
8: 125,256,665 (GRCm39) |
I137T |
probably benign |
Het |
| Cse1l |
A |
G |
2: 166,770,917 (GRCm39) |
Y369C |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,806,029 (GRCm39) |
N3357D |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,409,500 (GRCm39) |
T209A |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,339,123 (GRCm39) |
A392T |
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,821,695 (GRCm39) |
T123I |
probably damaging |
Het |
| Hook2 |
T |
A |
8: 85,717,928 (GRCm39) |
N42K |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,658,755 (GRCm39) |
M629V |
possibly damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,863 (GRCm39) |
D58G |
possibly damaging |
Het |
| Krtap4-8 |
T |
C |
11: 99,671,103 (GRCm39) |
|
probably benign |
Het |
| Mocs1 |
T |
C |
17: 49,759,862 (GRCm39) |
I381T |
probably damaging |
Het |
| Nbas |
A |
G |
12: 13,482,946 (GRCm39) |
T1408A |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,076 (GRCm39) |
F285S |
probably benign |
Het |
| Or8j3b |
T |
A |
2: 86,205,183 (GRCm39) |
D191V |
probably damaging |
Het |
| Orc1 |
C |
T |
4: 108,459,166 (GRCm39) |
T445I |
possibly damaging |
Het |
| Pdik1l |
T |
C |
4: 134,005,710 (GRCm39) |
K411E |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,611,129 (GRCm39) |
I443V |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,478,222 (GRCm39) |
S536P |
possibly damaging |
Het |
| Rnf10 |
C |
T |
5: 115,385,332 (GRCm39) |
R554H |
probably benign |
Het |
| Smarcc2 |
C |
T |
10: 128,305,551 (GRCm39) |
T325I |
possibly damaging |
Het |
| Smchd1 |
C |
A |
17: 71,667,136 (GRCm39) |
C1752F |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,733,431 (GRCm39) |
|
probably benign |
Het |
| Svil |
A |
G |
18: 5,060,613 (GRCm39) |
|
probably null |
Het |
| Tex52 |
T |
C |
6: 128,356,540 (GRCm39) |
S78P |
probably damaging |
Het |
| Tmem63c |
T |
G |
12: 87,103,307 (GRCm39) |
V27G |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,549,250 (GRCm39) |
N148S |
possibly damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,921 (GRCm39) |
I695V |
probably damaging |
Het |
| Wipf2 |
T |
A |
11: 98,789,543 (GRCm39) |
|
probably null |
Het |
| Zc3h18 |
A |
G |
8: 123,140,605 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
T |
A |
2: 82,089,013 (GRCm39) |
N947K |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,329,573 (GRCm39) |
|
probably null |
Het |
| Zic2 |
G |
T |
14: 122,716,329 (GRCm39) |
E422* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,816,929 (GRCm39) |
D4E |
probably damaging |
Het |
|
| Other mutations in Gzmc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02132:Gzmc
|
APN |
14 |
56,471,422 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02552:Gzmc
|
APN |
14 |
56,472,039 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL02974:Gzmc
|
APN |
14 |
56,471,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03408:Gzmc
|
APN |
14 |
56,471,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0133:Gzmc
|
UTSW |
14 |
56,469,754 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0366:Gzmc
|
UTSW |
14 |
56,470,193 (GRCm39) |
nonsense |
probably null |
|
|
R1533:Gzmc
|
UTSW |
14 |
56,471,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1551:Gzmc
|
UTSW |
14 |
56,470,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1634:Gzmc
|
UTSW |
14 |
56,469,737 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1686:Gzmc
|
UTSW |
14 |
56,471,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4730:Gzmc
|
UTSW |
14 |
56,469,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Gzmc
|
UTSW |
14 |
56,469,826 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4987:Gzmc
|
UTSW |
14 |
56,468,997 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5166:Gzmc
|
UTSW |
14 |
56,471,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6237:Gzmc
|
UTSW |
14 |
56,471,486 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7494:Gzmc
|
UTSW |
14 |
56,469,785 (GRCm39) |
nonsense |
probably null |
|
|
R7846:Gzmc
|
UTSW |
14 |
56,469,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7849:Gzmc
|
UTSW |
14 |
56,469,829 (GRCm39) |
missense |
probably benign |
|
|
R8183:Gzmc
|
UTSW |
14 |
56,470,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9570:Gzmc
|
UTSW |
14 |
56,469,042 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGGTCACACTGAAACTTG -3'
(R):5'- ATGTCTTTGAGACCCTCCTGTG -3'
Sequencing Primer
(F):5'- CTGGGTCACACTGAAACTTGTAATGG -3'
(R):5'- GAGACCCTCCTGTGTCCTCAAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation