Incidental Mutation 'IGL01341:Gzma'
| ID |
74868 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
IGL01341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
113230359-113237515 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to G
at 113230418 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023897]
[ENSMUST00000109244]
[ENSMUST00000181117]
[ENSMUST00000181568]
[ENSMUST00000224282]
|
| AlphaFold |
P11032 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023897
|
| SMART Domains |
Protein: ENSMUSP00000023897
Gene: ENSMUSG00000023132
| 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 benign
Transcript: ENSMUST00000224282
|
| Coding Region Coverage |
|
| 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 |
|---|
| Ahnak |
T |
A |
19: 8,989,067 (GRCm39) |
H3450Q |
probably benign |
Het |
| Arcn1 |
A |
G |
9: 44,668,489 (GRCm39) |
I249T |
possibly damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,260,925 (GRCm39) |
R1450H |
probably damaging |
Het |
| Cdh26 |
A |
T |
2: 178,099,240 (GRCm39) |
D113V |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,047,189 (GRCm39) |
V141A |
probably damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Ctsll3 |
C |
T |
13: 60,946,813 (GRCm39) |
D269N |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,261 (GRCm39) |
I492T |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,635,701 (GRCm39) |
S489G |
probably damaging |
Het |
| Glra2 |
T |
C |
X: 164,107,562 (GRCm39) |
D46G |
probably damaging |
Het |
| Gm7094 |
A |
G |
1: 21,343,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
T |
C |
3: 63,922,861 (GRCm39) |
I608T |
probably damaging |
Het |
| H2-Q4 |
T |
A |
17: 35,601,978 (GRCm39) |
V280E |
probably damaging |
Het |
| Jak1 |
C |
T |
4: 101,032,290 (GRCm39) |
G439S |
probably damaging |
Het |
| Kars1 |
T |
C |
8: 112,721,606 (GRCm39) |
I556V |
probably benign |
Het |
| Kifc2 |
T |
C |
15: 76,547,098 (GRCm39) |
|
probably null |
Het |
| Kit |
T |
C |
5: 75,767,734 (GRCm39) |
I39T |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,975,371 (GRCm39) |
R702L |
possibly damaging |
Het |
| Marveld3 |
T |
A |
8: 110,675,049 (GRCm39) |
T256S |
possibly damaging |
Het |
| Nkd1 |
G |
A |
8: 89,318,180 (GRCm39) |
|
probably benign |
Het |
| Or5aq6 |
T |
A |
2: 86,923,643 (GRCm39) |
I33L |
probably benign |
Het |
| Or6c212 |
G |
A |
10: 129,558,747 (GRCm39) |
T222I |
possibly damaging |
Het |
| Pax2 |
A |
G |
19: 44,779,127 (GRCm39) |
S167G |
probably damaging |
Het |
| Pdlim3 |
T |
A |
8: 46,368,277 (GRCm39) |
D258E |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,173,691 (GRCm39) |
C393* |
probably null |
Het |
| Pxdn |
T |
C |
12: 30,052,486 (GRCm39) |
S888P |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
| Reln |
T |
A |
5: 22,174,077 (GRCm39) |
I2009F |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,427,653 (GRCm39) |
S627P |
probably benign |
Het |
| Slc2a8 |
T |
A |
2: 32,866,003 (GRCm39) |
Q39L |
probably damaging |
Het |
| Tmem143 |
T |
C |
7: 45,565,558 (GRCm39) |
Y340H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,560,663 (GRCm39) |
V29246A |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,336,427 (GRCm39) |
D1654G |
probably damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,811,294 (GRCm39) |
L484R |
possibly damaging |
Het |
| Zcchc8 |
A |
G |
5: 123,842,632 (GRCm39) |
V367A |
probably benign |
Het |
|
| Other mutations in Gzma |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R5370:Gzma
|
UTSW |
13 |
113,232,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation