Incidental Mutation 'R5370:Gzma'
| ID |
429614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gzma
|
| Ensembl Gene |
ENSMUSG00000023132 |
| Gene Name |
granzyme A |
| Synonyms |
Ctla3, Hf, Hanukah factor, H factor, BLT esterase, TSP1, Ctla-3, SE1, TSP-1, serine esterase 1 |
| MMRRC Submission |
042947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R5370 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
113230359-113237515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 113232329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 191
(M191L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023897]
[ENSMUST00000109244]
[ENSMUST00000181117]
[ENSMUST00000181568]
[ENSMUST00000224282]
|
| AlphaFold |
P11032 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023897
AA Change: M194L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023897
Gene: ENSMUSG00000023132
AA Change: M194L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
28 |
252 |
1.1e-80 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109244
|
| SMART Domains |
Protein: ENSMUSP00000104867
Gene: ENSMUSG00000078926
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
WD40
|
218 |
257 |
6.6e1 |
SMART |
|
WD40
|
266 |
301 |
5.75e-1 |
SMART |
|
WD40
|
304 |
341 |
9.24e-1 |
SMART |
|
WD40
|
345 |
383 |
9.02e-7 |
SMART |
|
WD40
|
391 |
432 |
3.55e1 |
SMART |
|
WD40
|
473 |
517 |
2.01e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181117
|
| SMART Domains |
Protein: ENSMUSP00000137915
Gene: ENSMUSG00000078926
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
WD40
|
218 |
257 |
6.6e1 |
SMART |
|
WD40
|
266 |
301 |
5.75e-1 |
SMART |
|
WD40
|
304 |
341 |
9.24e-1 |
SMART |
|
WD40
|
345 |
383 |
9.02e-7 |
SMART |
|
WD40
|
391 |
432 |
3.55e1 |
SMART |
|
WD40
|
473 |
513 |
1.78e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181568
|
| SMART Domains |
Protein: ENSMUSP00000137849
Gene: ENSMUSG00000078926
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
WD40
|
218 |
257 |
6.6e1 |
SMART |
|
WD40
|
266 |
301 |
5.75e-1 |
SMART |
|
WD40
|
304 |
341 |
9.24e-1 |
SMART |
|
WD40
|
345 |
383 |
9.02e-7 |
SMART |
|
WD40
|
431 |
475 |
2.01e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224282
AA Change: M191L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytolytic T lymphocytes (CTL) and natural killer (NK) cells share the remarkable ability to recognize, bind, and lyse specific target cells. They are thought to protect their host by lysing cells bearing on their surface 'nonself' antigens, usually peptides or proteins resulting from infection by intracellular pathogens. The protein described here is a T cell- and natural killer cell-specific serine protease that may function as a common component necessary for lysis of target cells by cytotoxic T lymphocytes and natural killer cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show normal T/NK cell-mediated cytotoxicity, recovery from LCM virus or L. monocytogenes infection, and control of syngeneic tumor growth. Homozygotes for a different null allele show defective CTL cytolysis and increased tumor burden upon challenge with RMAS cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
C |
T |
5: 24,605,137 (GRCm39) |
R108C |
possibly damaging |
Het |
| Armc3 |
A |
C |
2: 19,290,873 (GRCm39) |
T451P |
probably benign |
Het |
| Ass1 |
G |
A |
2: 31,408,745 (GRCm39) |
V379M |
possibly damaging |
Het |
| Cdhr2 |
A |
G |
13: 54,868,700 (GRCm39) |
Y554C |
probably damaging |
Het |
| Clec4g |
C |
A |
8: 3,768,344 (GRCm39) |
R129L |
probably benign |
Het |
| Dip2b |
C |
T |
15: 100,109,867 (GRCm39) |
R1451C |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,920,180 (GRCm39) |
T2238S |
probably damaging |
Het |
| Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
T |
C |
4: 136,498,881 (GRCm39) |
E66G |
probably benign |
Het |
| Fam169a |
T |
A |
13: 97,243,470 (GRCm39) |
C167S |
probably damaging |
Het |
| Ggcx |
T |
C |
6: 72,402,914 (GRCm39) |
S291P |
possibly damaging |
Het |
| Gsdme |
T |
A |
6: 50,206,286 (GRCm39) |
I186F |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,416,403 (GRCm39) |
S226T |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hs6st1 |
T |
A |
1: 36,108,162 (GRCm39) |
S142T |
probably damaging |
Het |
| Ighv3-5 |
A |
G |
12: 114,226,518 (GRCm39) |
V36A |
probably benign |
Het |
| Leng8 |
A |
G |
7: 4,148,433 (GRCm39) |
D735G |
possibly damaging |
Het |
| Mapk13 |
T |
A |
17: 28,995,326 (GRCm39) |
Y182* |
probably null |
Het |
| Mrgprb8 |
A |
T |
7: 48,038,568 (GRCm39) |
T80S |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,149,343 (GRCm39) |
A605T |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,749,504 (GRCm39) |
T134A |
probably damaging |
Het |
| Or2n1d |
G |
T |
17: 38,646,335 (GRCm39) |
G96* |
probably null |
Het |
| Padi3 |
C |
A |
4: 140,537,849 (GRCm39) |
E24* |
probably null |
Het |
| Pcdhga3 |
T |
A |
18: 37,808,343 (GRCm39) |
D265E |
probably damaging |
Het |
| Pros1 |
A |
T |
16: 62,734,339 (GRCm39) |
I382L |
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,214,769 (GRCm39) |
V1544A |
possibly damaging |
Het |
| Rhoh |
G |
T |
5: 66,049,921 (GRCm39) |
A64S |
probably benign |
Het |
| Rnf115 |
A |
G |
3: 96,665,336 (GRCm39) |
T69A |
probably benign |
Het |
| Taf5 |
A |
G |
19: 47,064,203 (GRCm39) |
E382G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,250,450 (GRCm39) |
I607N |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,195,421 (GRCm39) |
Y635C |
probably damaging |
Het |
| Vwa5a |
A |
G |
9: 38,652,512 (GRCm39) |
D765G |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,256,437 (GRCm39) |
D228G |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,342,496 (GRCm39) |
D1579G |
possibly damaging |
Het |
|
| Other mutations in Gzma |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01341:Gzma
|
APN |
13 |
113,230,418 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0965:Gzma
|
UTSW |
13 |
113,234,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1411:Gzma
|
UTSW |
13 |
113,232,742 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1597:Gzma
|
UTSW |
13 |
113,232,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1838:Gzma
|
UTSW |
13 |
113,232,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1950:Gzma
|
UTSW |
13 |
113,230,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4153:Gzma
|
UTSW |
13 |
113,232,802 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4389:Gzma
|
UTSW |
13 |
113,234,922 (GRCm39) |
splice site |
probably null |
|
|
R5643:Gzma
|
UTSW |
13 |
113,234,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Gzma
|
UTSW |
13 |
113,234,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Gzma
|
UTSW |
13 |
113,234,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7798:Gzma
|
UTSW |
13 |
113,232,858 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8420:Gzma
|
UTSW |
13 |
113,237,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9079:Gzma
|
UTSW |
13 |
113,232,858 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9165:Gzma
|
UTSW |
13 |
113,237,455 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTAGAGCCTACCAAATGTC -3'
(R):5'- AATGTGGCTATCCTTCACCTAC -3'
Sequencing Primer
(F):5'- CTCTGTAAGTTCCAGATCAGGCAG -3'
(R):5'- TGGCTATCCTTCACCTACCTAAAAAG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation