Incidental Mutation 'R9174:Klk15'
| ID |
696578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk15
|
| Ensembl Gene |
ENSMUSG00000055193 |
| Gene Name |
kallikrein related-peptidase 15 |
| Synonyms |
|
| MMRRC Submission |
068977-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R9174 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43583164-43589063 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43587790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 73
(H73Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068625]
|
| AlphaFold |
Q8CGR4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068625
AA Change: H73Y
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066969
Gene: ENSMUSG00000055193
AA Change: H73Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
19 |
247 |
4.05e-93 |
SMART |
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.1468 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In prostate cancer, this gene has increased expression, which indicates its possible use as a diagnostic or prognostic marker for prostate cancer. The gene contains multiple polyadenylation sites and alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap1 |
A |
G |
11: 88,725,991 (GRCm39) |
Y737H |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,855,606 (GRCm39) |
V610E |
probably damaging |
Het |
| Arf1 |
G |
A |
11: 59,103,433 (GRCm39) |
T158I |
probably damaging |
Het |
| Atat1 |
T |
C |
17: 36,220,032 (GRCm39) |
K90R |
probably benign |
Het |
| Cfap70 |
C |
A |
14: 20,493,706 (GRCm39) |
G132W |
probably damaging |
Het |
| Cpne9 |
T |
A |
6: 113,279,032 (GRCm39) |
D475E |
probably damaging |
Het |
| Dapp1 |
T |
C |
3: 137,638,916 (GRCm39) |
D270G |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,462,076 (GRCm39) |
Y108* |
probably null |
Het |
| Etv4 |
A |
G |
11: 101,662,705 (GRCm39) |
|
probably null |
Het |
| Fes |
C |
A |
7: 80,030,631 (GRCm39) |
V555F |
probably damaging |
Het |
| Gm14496 |
A |
C |
2: 181,642,797 (GRCm39) |
I823L |
possibly damaging |
Het |
| H2-M9 |
A |
C |
17: 36,953,181 (GRCm39) |
L42R |
probably damaging |
Het |
| Ifitm2 |
A |
T |
7: 140,535,013 (GRCm39) |
I107N |
probably damaging |
Het |
| Impg1 |
T |
C |
9: 80,252,750 (GRCm39) |
T477A |
probably damaging |
Het |
| Inca1 |
G |
A |
11: 70,580,732 (GRCm39) |
P78S |
possibly damaging |
Het |
| Khk |
A |
G |
5: 31,085,819 (GRCm39) |
E126G |
probably benign |
Het |
| Mars1 |
A |
T |
10: 127,135,237 (GRCm39) |
I618N |
probably damaging |
Het |
| Mgl2 |
C |
A |
11: 70,026,606 (GRCm39) |
F110L |
probably benign |
Het |
| Mon1b |
A |
G |
8: 114,365,689 (GRCm39) |
D339G |
probably damaging |
Het |
| Pfdn2 |
G |
C |
1: 171,184,164 (GRCm39) |
E48Q |
probably damaging |
Het |
| Pilra |
A |
G |
5: 137,833,898 (GRCm39) |
I56T |
probably damaging |
Het |
| Ptpru |
A |
T |
4: 131,535,746 (GRCm39) |
N410K |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,868,039 (GRCm39) |
|
probably null |
Het |
| Skic3 |
A |
G |
13: 76,295,893 (GRCm39) |
E1052G |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,791,269 (GRCm39) |
C495R |
probably damaging |
Het |
| Ubap1l |
T |
A |
9: 65,284,289 (GRCm39) |
H339Q |
probably benign |
Het |
| Urb2 |
A |
G |
8: 124,767,987 (GRCm39) |
D1411G |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,460,416 (GRCm39) |
I2559N |
probably damaging |
Het |
| Vipas39 |
A |
T |
12: 87,305,885 (GRCm39) |
S103T |
possibly damaging |
Het |
| Vrk1 |
G |
A |
12: 106,002,811 (GRCm39) |
R3H |
probably benign |
Het |
| Wdr46 |
G |
T |
17: 34,167,668 (GRCm39) |
R493L |
possibly damaging |
Het |
| Zbtb8a |
T |
C |
4: 129,254,125 (GRCm39) |
D123G |
probably damaging |
Het |
|
| Other mutations in Klk15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01778:Klk15
|
APN |
7 |
43,588,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03113:Klk15
|
APN |
7 |
43,587,805 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0562:Klk15
|
UTSW |
7 |
43,588,269 (GRCm39) |
nonsense |
probably null |
|
|
R1768:Klk15
|
UTSW |
7 |
43,587,757 (GRCm39) |
splice site |
probably benign |
|
|
R4093:Klk15
|
UTSW |
7 |
43,588,204 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5859:Klk15
|
UTSW |
7 |
43,587,800 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5899:Klk15
|
UTSW |
7 |
43,588,247 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5907:Klk15
|
UTSW |
7 |
43,588,183 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7781:Klk15
|
UTSW |
7 |
43,588,980 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9029:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9030:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9058:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9059:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9061:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9105:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9173:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9175:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9228:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9231:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9235:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9236:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9331:Klk15
|
UTSW |
7 |
43,587,790 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9523:Klk15
|
UTSW |
7 |
43,587,770 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGGACTCCTGAGCTACTTC -3'
(R):5'- TCACCGATAAGAGGGCAACG -3'
Sequencing Primer
(F):5'- GCTCTAGAACTCACCGTGTAG -3'
(R):5'- AGGGCAACGTCTGGGCAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation