Incidental Mutation 'R6775:Klk1b24'
| ID |
532329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b24
|
| Ensembl Gene |
ENSMUSG00000063713 |
| Gene Name |
kallikrein 1-related peptidase b24 |
| Synonyms |
mGk-24, Klk24 |
| MMRRC Submission |
044891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R6775 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43837660-43841879 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43840889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 106
(M106V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073713]
|
| AlphaFold |
Q61754 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073713
AA Change: M106V
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000073392
Gene: ENSMUSG00000063713
AA Change: M106V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
24 |
255 |
1.22e-96 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts6 |
G |
A |
13: 104,450,160 (GRCm39) |
V289M |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,113,040 (GRCm39) |
D862G |
possibly damaging |
Het |
| Ccn6 |
T |
C |
10: 39,027,351 (GRCm39) |
T294A |
probably damaging |
Het |
| Colec10 |
A |
G |
15: 54,298,419 (GRCm39) |
E60G |
possibly damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,340 (GRCm39) |
V179A |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,268,285 (GRCm39) |
D423G |
possibly damaging |
Het |
| Ints15 |
C |
A |
5: 143,297,493 (GRCm39) |
V185L |
probably benign |
Het |
| Or14c39 |
A |
G |
7: 86,344,357 (GRCm39) |
E231G |
probably benign |
Het |
| Or7g30 |
A |
T |
9: 19,352,718 (GRCm39) |
T170S |
possibly damaging |
Het |
| Or8k40 |
G |
A |
2: 86,584,921 (GRCm39) |
R54C |
probably damaging |
Het |
| Orc1 |
T |
A |
4: 108,460,652 (GRCm39) |
F496I |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Phf11b |
A |
T |
14: 59,576,094 (GRCm39) |
N47K |
probably benign |
Het |
| Plscr4 |
G |
A |
9: 92,364,858 (GRCm39) |
M94I |
probably benign |
Het |
| Ppip5k2 |
A |
T |
1: 97,647,585 (GRCm39) |
V1047E |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,352,159 (GRCm39) |
Y384H |
possibly damaging |
Het |
| Sgpp1 |
G |
C |
12: 75,782,243 (GRCm39) |
P32R |
probably benign |
Het |
| Smc1b |
T |
C |
15: 84,973,881 (GRCm39) |
E925G |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 42,003,748 (GRCm39) |
Y183H |
possibly damaging |
Het |
| Tarbp1 |
A |
C |
8: 127,163,568 (GRCm39) |
D1151E |
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,183,039 (GRCm39) |
H220R |
possibly damaging |
Het |
| Wdr5 |
A |
G |
2: 27,423,386 (GRCm39) |
Y260C |
probably damaging |
Het |
|
| Other mutations in Klk1b24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01994:Klk1b24
|
APN |
7 |
43,841,057 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02394:Klk1b24
|
APN |
7 |
43,841,294 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02500:Klk1b24
|
APN |
7 |
43,837,748 (GRCm39) |
splice site |
probably benign |
|
|
IGL03030:Klk1b24
|
APN |
7 |
43,840,790 (GRCm39) |
missense |
probably benign |
|
|
R1458:Klk1b24
|
UTSW |
7 |
43,840,890 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1465:Klk1b24
|
UTSW |
7 |
43,840,785 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1465:Klk1b24
|
UTSW |
7 |
43,840,785 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1714:Klk1b24
|
UTSW |
7 |
43,840,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Klk1b24
|
UTSW |
7 |
43,837,653 (GRCm39) |
splice site |
probably null |
|
|
R1791:Klk1b24
|
UTSW |
7 |
43,839,852 (GRCm39) |
splice site |
probably null |
|
|
R3690:Klk1b24
|
UTSW |
7 |
43,841,243 (GRCm39) |
missense |
probably benign |
|
|
R4726:Klk1b24
|
UTSW |
7 |
43,839,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Klk1b24
|
UTSW |
7 |
43,840,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5883:Klk1b24
|
UTSW |
7 |
43,839,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7083:Klk1b24
|
UTSW |
7 |
43,841,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Klk1b24
|
UTSW |
7 |
43,839,688 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7644:Klk1b24
|
UTSW |
7 |
43,841,304 (GRCm39) |
splice site |
probably null |
|
|
R9761:Klk1b24
|
UTSW |
7 |
43,839,779 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGCTCTCATGCCTACCC -3'
(R):5'- GGTGTAATGCTGCCCCAG -3'
Sequencing Primer
(F):5'- CTGACTCCTTATGTATGCATGTATG -3'
(R):5'- GCCTGAGGCTAGGCATGTG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation