Incidental Mutation 'R6641:Klk10'
| ID |
525797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk10
|
| Ensembl Gene |
ENSMUSG00000030693 |
| Gene Name |
kallikrein related-peptidase 10 |
| Synonyms |
2300002A13Rik, PRSSL1, NES1 |
| MMRRC Submission |
044762-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6641 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43430478-43434834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 43434324 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 239
(D239Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014058]
|
| AlphaFold |
Q99M20 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014058
AA Change: D239Y
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000014058
Gene: ENSMUSG00000030693
AA Change: D239Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
46 |
271 |
1.35e-71 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181454
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
100% (32/32) |
| 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. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
C |
T |
16: 88,555,974 (GRCm39) |
P63S |
unknown |
Het |
| Aadac |
T |
C |
3: 59,947,153 (GRCm39) |
S284P |
probably damaging |
Het |
| Casp12 |
G |
A |
9: 5,354,612 (GRCm39) |
C257Y |
probably benign |
Het |
| Chil6 |
T |
A |
3: 106,296,240 (GRCm39) |
I361F |
possibly damaging |
Het |
| Cubn |
A |
C |
2: 13,480,875 (GRCm39) |
S327A |
probably damaging |
Het |
| Desi2 |
A |
T |
1: 178,071,943 (GRCm39) |
E82D |
possibly damaging |
Het |
| Dym |
T |
A |
18: 75,189,712 (GRCm39) |
I100N |
probably damaging |
Het |
| Gm14418 |
G |
T |
2: 177,079,623 (GRCm39) |
T124K |
probably benign |
Het |
| Gm28042 |
T |
A |
2: 119,870,164 (GRCm39) |
I701N |
probably damaging |
Het |
| Gm3404 |
C |
A |
5: 146,464,518 (GRCm39) |
A173D |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,660,721 (GRCm39) |
L738Q |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,132 (GRCm39) |
|
probably benign |
Het |
| Lepr |
T |
A |
4: 101,622,502 (GRCm39) |
D427E |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,702,287 (GRCm39) |
R177W |
probably damaging |
Het |
| Mtg2 |
A |
G |
2: 179,727,301 (GRCm39) |
T318A |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,219,737 (GRCm39) |
V1044A |
probably benign |
Het |
| Nrsn2 |
A |
G |
2: 152,211,830 (GRCm39) |
V67A |
probably benign |
Het |
| Or2b11 |
T |
C |
11: 59,461,666 (GRCm39) |
D300G |
possibly damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,850 (GRCm39) |
E444G |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,322,762 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,939,460 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
T |
G |
2: 53,031,638 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,134,132 (GRCm39) |
Y2599D |
probably damaging |
Het |
| Septin11 |
T |
A |
5: 93,287,411 (GRCm39) |
I42N |
probably damaging |
Het |
| Slc22a15 |
G |
A |
3: 101,783,022 (GRCm39) |
A216V |
possibly damaging |
Het |
| Slc33a1 |
T |
A |
3: 63,861,327 (GRCm39) |
T292S |
probably benign |
Het |
| Slc5a11 |
A |
G |
7: 122,837,378 (GRCm39) |
K56R |
probably benign |
Het |
| Slc7a13 |
G |
A |
4: 19,839,534 (GRCm39) |
G379E |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,245 (GRCm39) |
I193V |
possibly damaging |
Het |
| Specc1l |
A |
G |
10: 75,082,383 (GRCm39) |
E593G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,626,059 (GRCm39) |
M1169K |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Vipr1 |
A |
G |
9: 121,498,631 (GRCm39) |
*460W |
probably null |
Het |
| Zbtb18 |
T |
A |
1: 177,275,609 (GRCm39) |
L323Q |
probably damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,641,270 (GRCm39) |
S129P |
probably benign |
Het |
|
| Other mutations in Klk10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01488:Klk10
|
APN |
7 |
43,434,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01657:Klk10
|
APN |
7 |
43,431,013 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02049:Klk10
|
APN |
7 |
43,433,882 (GRCm39) |
splice site |
probably benign |
|
|
IGL02725:Klk10
|
APN |
7 |
43,431,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03382:Klk10
|
APN |
7 |
43,433,883 (GRCm39) |
splice site |
probably benign |
|
|
R0433:Klk10
|
UTSW |
7 |
43,430,989 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1521:Klk10
|
UTSW |
7 |
43,432,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1580:Klk10
|
UTSW |
7 |
43,432,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Klk10
|
UTSW |
7 |
43,433,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5969:Klk10
|
UTSW |
7 |
43,434,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Klk10
|
UTSW |
7 |
43,432,241 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7589:Klk10
|
UTSW |
7 |
43,433,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7599:Klk10
|
UTSW |
7 |
43,433,851 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7902:Klk10
|
UTSW |
7 |
43,432,942 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8519:Klk10
|
UTSW |
7 |
43,432,239 (GRCm39) |
nonsense |
probably null |
|
|
R9560:Klk10
|
UTSW |
7 |
43,433,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCCACCATCACCTCTGTG -3'
(R):5'- TACTAGAACTTTCTCAGCCACC -3'
Sequencing Primer
(F):5'- ACCATCACCTCTGTGTGTATC -3'
(R):5'- TCTGCATTTGTGAGCAGAGAAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation