Incidental Mutation 'IGL03113:Klk15'
| ID |
419275 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klk15
|
| Ensembl Gene |
ENSMUSG00000055193 |
| Gene Name |
kallikrein related-peptidase 15 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL03113
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43583164-43589063 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43587805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 78
(F78L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068625]
|
| AlphaFold |
Q8CGR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068625
AA Change: F78L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000066969
Gene: ENSMUSG00000055193
AA Change: F78L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
19 |
247 |
4.05e-93 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183762
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206172
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000206955
AA Change: F70L
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apof |
G |
A |
10: 128,105,568 (GRCm39) |
V241M |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 15,004,505 (GRCm39) |
I91N |
probably damaging |
Het |
| Arhgef17 |
G |
A |
7: 100,578,938 (GRCm39) |
T670I |
probably benign |
Het |
| Barhl1 |
T |
C |
2: 28,805,468 (GRCm39) |
D75G |
probably benign |
Het |
| Capn13 |
T |
C |
17: 73,638,108 (GRCm39) |
T432A |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,640,951 (GRCm39) |
Y691N |
probably damaging |
Het |
| Ccdc175 |
C |
A |
12: 72,191,557 (GRCm39) |
V340L |
probably benign |
Het |
| Cdc5l |
A |
T |
17: 45,744,348 (GRCm39) |
M5K |
possibly damaging |
Het |
| Cgn |
A |
G |
3: 94,686,544 (GRCm39) |
F253L |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,078,712 (GRCm39) |
K2003R |
probably benign |
Het |
| Disp2 |
T |
A |
2: 118,621,259 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,472,163 (GRCm39) |
N3535D |
possibly damaging |
Het |
| Exoc3 |
G |
A |
13: 74,341,232 (GRCm39) |
Q191* |
probably null |
Het |
| Fstl5 |
T |
A |
3: 76,337,099 (GRCm39) |
Y219* |
probably null |
Het |
| Gad2 |
T |
A |
2: 22,571,367 (GRCm39) |
L435Q |
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 69,941,983 (GRCm39) |
V195A |
probably damaging |
Het |
| Haus6 |
G |
A |
4: 86,501,343 (GRCm39) |
Q843* |
probably null |
Het |
| Hivep2 |
T |
A |
10: 14,006,395 (GRCm39) |
F998I |
probably damaging |
Het |
| Hsf5 |
A |
T |
11: 87,548,190 (GRCm39) |
E624D |
probably benign |
Het |
| Klb |
A |
G |
5: 65,540,813 (GRCm39) |
N969D |
probably benign |
Het |
| Klhl6 |
T |
A |
16: 19,776,001 (GRCm39) |
S186C |
possibly damaging |
Het |
| Ldlr |
A |
G |
9: 21,651,124 (GRCm39) |
E514G |
possibly damaging |
Het |
| Map9 |
T |
A |
3: 82,267,285 (GRCm39) |
|
probably benign |
Het |
| Miga2 |
A |
T |
2: 30,274,022 (GRCm39) |
I99F |
possibly damaging |
Het |
| Morc4 |
T |
C |
X: 138,758,605 (GRCm39) |
E189G |
probably benign |
Het |
| Nhlrc3 |
A |
T |
3: 53,365,984 (GRCm39) |
Y170N |
possibly damaging |
Het |
| Or3a1b |
G |
A |
11: 74,012,529 (GRCm39) |
R138Q |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,379 (GRCm39) |
F10L |
probably damaging |
Het |
| Or51b6b |
A |
T |
7: 103,309,851 (GRCm39) |
V202D |
possibly damaging |
Het |
| Or52u1 |
A |
T |
7: 104,237,940 (GRCm39) |
R310W |
probably benign |
Het |
| Or5o1 |
T |
A |
X: 48,815,939 (GRCm39) |
N291Y |
probably damaging |
Het |
| Or5w15 |
T |
C |
2: 87,568,506 (GRCm39) |
Q54R |
probably benign |
Het |
| Or8g32 |
A |
C |
9: 39,305,981 (GRCm39) |
K295T |
probably damaging |
Het |
| Pkd1l1 |
G |
A |
11: 8,784,793 (GRCm39) |
T1997I |
probably benign |
Het |
| Poln |
A |
G |
5: 34,274,206 (GRCm39) |
S377P |
probably benign |
Het |
| Rab22a |
T |
A |
2: 173,503,265 (GRCm39) |
V26E |
probably damaging |
Het |
| Rhbdl3 |
T |
C |
11: 80,244,439 (GRCm39) |
V382A |
possibly damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,957,723 (GRCm39) |
Q350K |
probably benign |
Het |
| Sult1d1 |
A |
T |
5: 87,707,738 (GRCm39) |
Y127* |
probably null |
Het |
| Vmn1r73 |
A |
T |
7: 11,490,527 (GRCm39) |
Y115F |
probably benign |
Het |
| Zfp128 |
T |
A |
7: 12,624,314 (GRCm39) |
D227E |
probably benign |
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 |
|
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 |
|
R9174: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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation