Incidental Mutation 'R4036:Klk1b8'
| ID |
313713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b8
|
| Ensembl Gene |
ENSMUSG00000063089 |
| Gene Name |
kallikrein 1-related peptidase b8 |
| Synonyms |
mGK-8, Klk8, TADG14 |
| MMRRC Submission |
040963-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43600088-43604365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43447511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 9
(I9V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005891]
[ENSMUST00000085461]
[ENSMUST00000205537]
|
| AlphaFold |
P07628 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005891
|
| SMART Domains |
Protein: ENSMUSP00000005891
Gene: ENSMUSG00000047884
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
22 |
244 |
1.66e-89 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085461
AA Change: I9V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082588
Gene: ENSMUSG00000064023
AA Change: I9V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
32 |
252 |
8.87e-99 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205527
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205537
AA Change: I9V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206465
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544M13Rik |
T |
C |
13: 114,744,205 (GRCm39) |
|
noncoding transcript |
Het |
| Ahctf1 |
T |
C |
1: 179,590,181 (GRCm39) |
Q1364R |
possibly damaging |
Het |
| Anxa2 |
A |
G |
9: 69,395,352 (GRCm39) |
N265S |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,903,423 (GRCm39) |
|
probably null |
Het |
| Cntln |
A |
G |
4: 84,924,725 (GRCm39) |
Y610C |
probably damaging |
Het |
| Cyp39a1 |
C |
A |
17: 43,987,831 (GRCm39) |
A99E |
probably damaging |
Het |
| Drc1 |
A |
G |
5: 30,504,526 (GRCm39) |
I223V |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,094,570 (GRCm39) |
L1167P |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gns |
C |
A |
10: 121,207,095 (GRCm39) |
T72N |
probably damaging |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Map4 |
A |
G |
9: 109,861,283 (GRCm39) |
T216A |
possibly damaging |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
| Ndc1 |
G |
A |
4: 107,268,269 (GRCm39) |
D602N |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
| Or5ac22 |
T |
A |
16: 59,135,113 (GRCm39) |
H219L |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,158,296 (GRCm39) |
|
probably null |
Het |
| Prrt3 |
AGGGGG |
AGGGG |
6: 113,474,641 (GRCm39) |
|
probably null |
Het |
| Rfx6 |
T |
A |
10: 51,602,842 (GRCm39) |
H786Q |
probably damaging |
Het |
| Scn4a |
A |
C |
11: 106,212,883 (GRCm39) |
L1374R |
possibly damaging |
Het |
| Slc16a9 |
C |
T |
10: 70,110,786 (GRCm39) |
T124M |
probably damaging |
Het |
| Slc46a2 |
A |
T |
4: 59,913,818 (GRCm39) |
F368L |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,898,010 (GRCm39) |
I604K |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,548,497 (GRCm39) |
V31935A |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,584,974 (GRCm39) |
H549R |
probably benign |
Het |
| Vmn1r219 |
A |
G |
13: 23,347,272 (GRCm39) |
M154V |
probably benign |
Het |
| Zfp575 |
G |
A |
7: 24,285,440 (GRCm39) |
S67L |
possibly damaging |
Het |
|
| Other mutations in Klk1b8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00820:Klk1b8
|
APN |
7 |
43,604,210 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01076:Klk1b8
|
APN |
7 |
43,604,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01486:Klk1b8
|
APN |
7 |
43,453,113 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01685:Klk1b8
|
APN |
7 |
43,604,294 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01771:Klk1b8
|
APN |
7 |
43,604,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02272:Klk1b8
|
APN |
7 |
43,602,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02596:Klk1b8
|
APN |
7 |
43,602,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0783:Klk1b8
|
UTSW |
7 |
43,451,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0789:Klk1b8
|
UTSW |
7 |
43,595,151 (GRCm39) |
unclassified |
probably benign |
|
|
R1005:Klk1b8
|
UTSW |
7 |
43,603,758 (GRCm39) |
nonsense |
probably null |
|
|
R1628:Klk1b8
|
UTSW |
7 |
43,603,565 (GRCm39) |
splice site |
probably null |
|
|
R1688:Klk1b8
|
UTSW |
7 |
43,595,229 (GRCm39) |
unclassified |
probably benign |
|
|
R1733:Klk1b8
|
UTSW |
7 |
43,451,545 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1954:Klk1b8
|
UTSW |
7 |
43,603,272 (GRCm39) |
splice site |
probably benign |
|
|
R2020:Klk1b8
|
UTSW |
7 |
43,448,640 (GRCm39) |
missense |
probably benign |
|
|
R4344:Klk1b8
|
UTSW |
7 |
43,595,186 (GRCm39) |
unclassified |
probably benign |
|
|
R5648:Klk1b8
|
UTSW |
7 |
43,448,068 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6237:Klk1b8
|
UTSW |
7 |
43,448,094 (GRCm39) |
nonsense |
probably null |
|
|
R6294:Klk1b8
|
UTSW |
7 |
43,602,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Klk1b8
|
UTSW |
7 |
43,602,213 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7609:Klk1b8
|
UTSW |
7 |
43,451,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7871:Klk1b8
|
UTSW |
7 |
43,448,750 (GRCm39) |
splice site |
probably null |
|
|
R8925:Klk1b8
|
UTSW |
7 |
43,604,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Klk1b8
|
UTSW |
7 |
43,604,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9184:Klk1b8
|
UTSW |
7 |
43,602,158 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9401:Klk1b8
|
UTSW |
7 |
43,603,674 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9456:Klk1b8
|
UTSW |
7 |
43,453,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9505:Klk1b8
|
UTSW |
7 |
43,451,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Klk1b8
|
UTSW |
7 |
43,453,149 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCGGGGATCTAGAGCTCTG -3'
(R):5'- ACTTCCTCACCACTGAGTTG -3'
Sequencing Primer
(F):5'- GATCTAGAGCTCTGCCCTAGC -3'
(R):5'- GCTATCTCTACTCGCTACCAAGAAAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation