Incidental Mutation 'IGL00563:Gzmk'
| ID |
5909 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gzmk
|
| Ensembl Gene |
ENSMUSG00000042385 |
| Gene Name |
granzyme K |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00563
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
113308164-113317499 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 113309658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 92
(V92I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113530
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038212]
[ENSMUST00000122399]
[ENSMUST00000140324]
|
| AlphaFold |
O35205 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038212
AA Change: V131I
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000044512
Gene: ENSMUSG00000042385
AA Change: V131I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
25 |
253 |
2.12e-87 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122399
AA Change: V92I
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113530
Gene: ENSMUSG00000042385
AA Change: V92I
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
1 |
214 |
9.28e-70 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140324
|
| SMART Domains |
Protein: ENSMUSP00000114250
Gene: ENSMUSG00000042385
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Trypsin
|
26 |
69 |
1.2e-18 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of a group of related serine proteases from the cytoplasmic granules of cytotoxic lymphocytes. 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 lacks consensus sequences for N-glycosylation present in other granzymes. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
T |
C |
5: 25,202,619 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,222,596 (GRCm39) |
|
probably benign |
Het |
| AU016765 |
C |
A |
17: 64,826,877 (GRCm39) |
|
noncoding transcript |
Het |
| Clstn2 |
A |
G |
9: 97,464,505 (GRCm39) |
|
probably benign |
Het |
| Crip1 |
T |
A |
12: 113,117,232 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,172,603 (GRCm39) |
N285S |
possibly damaging |
Het |
| Fktn |
A |
T |
4: 53,747,007 (GRCm39) |
|
probably null |
Het |
| Fndc3a |
C |
A |
14: 72,796,797 (GRCm39) |
|
probably benign |
Het |
| Focad |
T |
A |
4: 88,267,046 (GRCm39) |
M1019K |
unknown |
Het |
| Fuca2 |
A |
T |
10: 13,381,651 (GRCm39) |
D188V |
probably damaging |
Het |
| Mprip |
C |
T |
11: 59,643,443 (GRCm39) |
R520W |
probably damaging |
Het |
| Mrpl19 |
A |
G |
6: 81,942,853 (GRCm39) |
V19A |
probably benign |
Het |
| Ndufb3 |
T |
A |
1: 58,634,958 (GRCm39) |
H103Q |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,382,779 (GRCm39) |
V1675A |
possibly damaging |
Het |
| Saxo1 |
C |
T |
4: 86,363,809 (GRCm39) |
E225K |
probably damaging |
Het |
| Sbno1 |
A |
G |
5: 124,540,268 (GRCm39) |
S383P |
probably damaging |
Het |
| Slc22a29 |
T |
A |
19: 8,138,993 (GRCm39) |
T490S |
probably benign |
Het |
| Smc6 |
T |
A |
12: 11,351,532 (GRCm39) |
S854T |
probably benign |
Het |
| Smim23 |
T |
C |
11: 32,771,893 (GRCm39) |
T58A |
probably benign |
Het |
| Tas2r134 |
T |
C |
2: 51,518,100 (GRCm39) |
I193T |
possibly damaging |
Het |
| Thsd7a |
G |
T |
6: 12,379,658 (GRCm39) |
|
probably null |
Het |
| Trav13n-4 |
T |
G |
14: 53,601,423 (GRCm39) |
V64G |
possibly damaging |
Het |
| Trmt10a |
G |
A |
3: 137,853,177 (GRCm39) |
E13K |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,922,496 (GRCm39) |
S239G |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,804,077 (GRCm39) |
N442K |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,712,078 (GRCm39) |
|
probably null |
Het |
| Wdr64 |
A |
G |
1: 175,526,366 (GRCm39) |
D5G |
probably benign |
Het |
|
| Other mutations in Gzmk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01702:Gzmk
|
APN |
13 |
113,317,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Gzmk
|
APN |
13 |
113,308,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Gzmk
|
UTSW |
13 |
113,310,462 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1813:Gzmk
|
UTSW |
13 |
113,309,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1896:Gzmk
|
UTSW |
13 |
113,309,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Gzmk
|
UTSW |
13 |
113,310,489 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2128:Gzmk
|
UTSW |
13 |
113,308,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2993:Gzmk
|
UTSW |
13 |
113,317,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3936:Gzmk
|
UTSW |
13 |
113,309,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Gzmk
|
UTSW |
13 |
113,309,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4838:Gzmk
|
UTSW |
13 |
113,309,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5131:Gzmk
|
UTSW |
13 |
113,310,482 (GRCm39) |
missense |
probably benign |
|
|
R5892:Gzmk
|
UTSW |
13 |
113,310,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6582:Gzmk
|
UTSW |
13 |
113,317,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7491:Gzmk
|
UTSW |
13 |
113,308,535 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8027:Gzmk
|
UTSW |
13 |
113,308,434 (GRCm39) |
nonsense |
probably null |
|
|
R8145:Gzmk
|
UTSW |
13 |
113,308,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Gzmk
|
UTSW |
13 |
113,317,367 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation