Incidental Mutation 'R3936:Gzmk'
| ID |
307186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gzmk
|
| Ensembl Gene |
ENSMUSG00000042385 |
| Gene Name |
granzyme K |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3936 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
113308164-113317499 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 113309559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 164
(S164T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044512
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038212]
[ENSMUST00000122399]
[ENSMUST00000140324]
|
| AlphaFold |
O35205 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038212
AA Change: S164T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000044512
Gene: ENSMUSG00000042385
AA Change: S164T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
25 |
253 |
2.12e-87 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122399
AA Change: S125T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113530
Gene: ENSMUSG00000042385
AA Change: S125T
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,715,819 (GRCm39) |
K491* |
probably null |
Het |
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,159,209 (GRCm39) |
N203S |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Btnl6 |
T |
A |
17: 34,736,316 (GRCm39) |
H4L |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,001,482 (GRCm39) |
L3835F |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,371,065 (GRCm39) |
|
probably null |
Het |
| G6pc1 |
A |
G |
11: 101,265,429 (GRCm39) |
I154V |
probably benign |
Het |
| Golgb1 |
G |
T |
16: 36,734,418 (GRCm39) |
E1222* |
probably null |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Il22ra2 |
T |
A |
10: 19,507,456 (GRCm39) |
S156R |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,216 (GRCm39) |
I146N |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,821,359 (GRCm39) |
M1L |
probably benign |
Het |
| P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Rptn |
A |
C |
3: 93,302,883 (GRCm39) |
H72P |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,427,193 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,192 (GRCm39) |
E726G |
possibly damaging |
Het |
| Treh |
C |
T |
9: 44,595,840 (GRCm39) |
R342W |
probably benign |
Het |
|
| Other mutations in Gzmk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00563:Gzmk
|
APN |
13 |
113,309,658 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTAGAGGAGATGCTGTGG -3'
(R):5'- CAATGCACAGTCAAGTGAGG -3'
Sequencing Primer
(F):5'- GAGTTGGCTTTCAAATATGAGAACC -3'
(R):5'- CTTCACCTGGGATCCAAAA -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation