Incidental Mutation 'R6582:Gzmk'
ID |
524178 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gzmk
|
Ensembl Gene |
ENSMUSG00000042385 |
Gene Name |
granzyme K |
Synonyms |
|
MMRRC Submission |
044706-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6582 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
113308164-113317499 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113317045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 45
(Y45H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114250
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038212]
[ENSMUST00000122399]
[ENSMUST00000140324]
|
AlphaFold |
O35205 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000038212
AA Change: Y45H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044512 Gene: ENSMUSG00000042385 AA Change: Y45H
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: Y6H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113530 Gene: ENSMUSG00000042385 AA Change: Y6H
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
1 |
214 |
9.28e-70 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140324
AA Change: Y45H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114250 Gene: ENSMUSG00000042385 AA Change: Y45H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:Trypsin
|
26 |
69 |
1.2e-18 |
PFAM |
|
Meta Mutation Damage Score |
0.3076 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
100% (40/40) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,297,384 (GRCm39) |
T2369A |
probably benign |
Het |
Abhd6 |
T |
G |
14: 8,042,828 (GRCm38) |
|
probably null |
Het |
Abhd6 |
G |
T |
14: 8,042,826 (GRCm38) |
G128C |
probably damaging |
Het |
Acsm3 |
A |
G |
7: 119,378,896 (GRCm39) |
E426G |
probably benign |
Het |
Ankrd11 |
T |
C |
8: 123,618,368 (GRCm39) |
D1828G |
probably benign |
Het |
Asmt |
T |
A |
X: 169,108,766 (GRCm39) |
|
probably null |
Het |
Casp4 |
A |
G |
9: 5,324,884 (GRCm39) |
Q232R |
probably benign |
Het |
Cenpt |
A |
T |
8: 106,575,833 (GRCm39) |
L171* |
probably null |
Het |
Chd3 |
AGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGG |
11: 69,259,982 (GRCm39) |
|
probably benign |
Het |
Col5a2 |
G |
T |
1: 45,429,275 (GRCm39) |
H948N |
possibly damaging |
Het |
Dnah9 |
G |
T |
11: 65,951,923 (GRCm39) |
H1859N |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,664,104 (GRCm39) |
R1993Q |
probably benign |
Het |
Fbxw8 |
C |
A |
5: 118,263,028 (GRCm39) |
R217L |
probably benign |
Het |
Flnb |
T |
G |
14: 7,892,275 (GRCm38) |
|
probably null |
Het |
Fyb2 |
A |
G |
4: 104,802,739 (GRCm39) |
N214D |
probably benign |
Het |
Gbp2b |
A |
G |
3: 142,316,801 (GRCm39) |
E484G |
possibly damaging |
Het |
Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
Kcnj6 |
A |
G |
16: 94,633,685 (GRCm39) |
V142A |
possibly damaging |
Het |
Klri2 |
A |
T |
6: 129,716,096 (GRCm39) |
I81K |
possibly damaging |
Het |
Lama3 |
T |
A |
18: 12,710,897 (GRCm39) |
V3144E |
probably damaging |
Het |
Mark1 |
G |
A |
1: 184,644,786 (GRCm39) |
S390L |
possibly damaging |
Het |
Mbd3l1 |
T |
C |
9: 18,396,024 (GRCm39) |
Y50H |
probably benign |
Het |
Mcat |
T |
C |
15: 83,433,383 (GRCm39) |
N220S |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,282,941 (GRCm39) |
E81G |
probably benign |
Het |
Neto1 |
A |
T |
18: 86,512,985 (GRCm39) |
K327* |
probably null |
Het |
Or10j3 |
G |
T |
1: 173,031,847 (GRCm39) |
R308L |
probably benign |
Het |
Or4a67 |
A |
T |
2: 88,598,587 (GRCm39) |
L24Q |
probably damaging |
Het |
Or52p1 |
A |
T |
7: 104,267,648 (GRCm39) |
Y254F |
probably damaging |
Het |
Or52u1 |
T |
C |
7: 104,237,218 (GRCm39) |
L69P |
probably damaging |
Het |
Pidd1 |
A |
T |
7: 141,019,494 (GRCm39) |
V722D |
probably damaging |
Het |
Ppp2r2a |
G |
T |
14: 67,257,253 (GRCm39) |
H326N |
probably damaging |
Het |
Smarca5 |
G |
A |
8: 81,446,281 (GRCm39) |
T473I |
probably damaging |
Het |
Spg11 |
C |
A |
2: 121,922,773 (GRCm39) |
W892L |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,248 (GRCm39) |
I93N |
possibly damaging |
Het |
Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
Vmn1r71 |
T |
A |
7: 10,482,608 (GRCm39) |
I27F |
probably benign |
Het |
Vsnl1 |
A |
G |
12: 11,376,489 (GRCm39) |
V132A |
probably benign |
Het |
Wdsub1 |
T |
C |
2: 59,708,652 (GRCm39) |
T74A |
probably damaging |
Het |
Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
probably damaging |
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 |
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 |
|
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'- ATCGCCTTGGTTAATCTTACTGTAC -3'
(R):5'- TACAACTGCTAGCCGGAAAAG -3'
Sequencing Primer
(F):5'- ACTCACCAAGAGTAGCAG -3'
(R):5'- GGTACACTAAGTATTGAGCACCGTTG -3'
|
Posted On |
2018-06-22 |