Incidental Mutation 'IGL01657:Klk10'
| ID |
103046 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klk10
|
| Ensembl Gene |
ENSMUSG00000030693 |
| Gene Name |
kallikrein related-peptidase 10 |
| Synonyms |
2300002A13Rik, PRSSL1, NES1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL01657
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43430478-43434834 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43431013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 19
(K19E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014058
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014058]
[ENSMUST00000080211]
[ENSMUST00000171458]
|
| AlphaFold |
Q99M20 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014058
AA Change: K19E
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000014058
Gene: ENSMUSG00000030693
AA Change: K19E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
46 |
271 |
1.35e-71 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080211
|
| SMART Domains |
Protein: ENSMUSP00000079101
Gene: ENSMUSG00000067616
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
37 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
47 |
269 |
5.14e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171458
|
| SMART Domains |
Protein: ENSMUSP00000132721
Gene: ENSMUSG00000067616
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
20 |
242 |
5.14e-95 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205415
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206165
|
| 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. 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,865,574 (GRCm39) |
F90L |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,021,968 (GRCm39) |
Y683* |
probably null |
Het |
| Astn2 |
T |
G |
4: 65,570,186 (GRCm39) |
D773A |
probably damaging |
Het |
| Atp2b3 |
T |
C |
X: 72,588,966 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
T |
C |
4: 43,291,693 (GRCm39) |
M22T |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,967,606 (GRCm39) |
L4169H |
probably damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,939,431 (GRCm39) |
V81A |
probably benign |
Het |
| Clcn2 |
A |
T |
16: 20,532,369 (GRCm39) |
C80S |
probably damaging |
Het |
| Clu |
C |
T |
14: 66,217,121 (GRCm39) |
A318V |
possibly damaging |
Het |
| Csnk1g2 |
A |
G |
10: 80,475,463 (GRCm39) |
H378R |
probably benign |
Het |
| Decr2 |
T |
A |
17: 26,301,926 (GRCm39) |
D268V |
probably damaging |
Het |
| Dpp3 |
T |
C |
19: 4,968,332 (GRCm39) |
T247A |
possibly damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,500,966 (GRCm39) |
N774D |
possibly damaging |
Het |
| Epha4 |
A |
T |
1: 77,403,475 (GRCm39) |
V344E |
probably damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ggcx |
T |
A |
6: 72,406,941 (GRCm39) |
|
probably null |
Het |
| Gm1965 |
C |
T |
6: 89,123,648 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnn |
T |
C |
13: 24,937,687 (GRCm39) |
E101G |
probably damaging |
Het |
| Grik2 |
C |
T |
10: 49,404,082 (GRCm39) |
|
probably null |
Het |
| H2-M11 |
T |
A |
17: 36,858,465 (GRCm39) |
D86E |
probably benign |
Het |
| Il6st |
T |
A |
13: 112,618,077 (GRCm39) |
W164R |
probably damaging |
Het |
| Ilvbl |
G |
T |
10: 78,412,602 (GRCm39) |
V108L |
possibly damaging |
Het |
| Mbd4 |
G |
T |
6: 115,826,598 (GRCm39) |
T131N |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,983,120 (GRCm39) |
V956A |
possibly damaging |
Het |
| Nif3l1 |
A |
C |
1: 58,494,771 (GRCm39) |
T247P |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,606,583 (GRCm39) |
V443A |
probably damaging |
Het |
| Or4c35 |
A |
G |
2: 89,808,221 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pigk |
T |
A |
3: 152,428,157 (GRCm39) |
H61Q |
probably damaging |
Het |
| Pla2g4d |
C |
A |
2: 120,105,768 (GRCm39) |
V431F |
possibly damaging |
Het |
| Pxt1 |
A |
T |
17: 29,153,778 (GRCm39) |
H18Q |
possibly damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,184,757 (GRCm39) |
|
probably benign |
Het |
| Slc22a18 |
T |
G |
7: 143,052,837 (GRCm39) |
L354R |
probably damaging |
Het |
| Slc26a10 |
A |
G |
10: 127,010,903 (GRCm39) |
V443A |
probably damaging |
Het |
| Smpx |
A |
G |
X: 156,497,676 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,908,491 (GRCm39) |
S1751G |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,558,658 (GRCm39) |
T3629I |
probably benign |
Het |
| Vcan |
C |
T |
13: 89,838,705 (GRCm39) |
V2280M |
probably damaging |
Het |
| Vmn1r30 |
T |
C |
6: 58,412,619 (GRCm39) |
E71G |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,746,178 (GRCm39) |
I446F |
possibly damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,455 (GRCm39) |
V449D |
probably damaging |
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 |
|
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 |
|
R6641:Klk10
|
UTSW |
7 |
43,434,324 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation