Incidental Mutation 'IGL01486:Klk1b8'
| ID |
88747 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klk1b8
|
| Ensembl Gene |
ENSMUSG00000063089 |
| Gene Name |
kallikrein 1-related peptidase b8 |
| Synonyms |
mGK-8, Klk8, TADG14 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL01486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43600088-43604365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43453113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 235
(K235E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085461]
[ENSMUST00000205537]
|
| AlphaFold |
P07628 |
| PDB Structure |
NEUROPSIN, A SERINE PROTEASE EXPRESSED IN THE LIMBIC SYSTEM OF MOUSE BRAIN [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085461
AA Change: K235E
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000082588
Gene: ENSMUSG00000064023
AA Change: K235E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
32 |
252 |
8.87e-99 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205537
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206465
|
| Coding Region Coverage |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx3 |
G |
T |
3: 107,512,139 (GRCm39) |
C259F |
probably damaging |
Het |
| Ampd3 |
G |
T |
7: 110,409,123 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,421,513 (GRCm39) |
I733V |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,552,890 (GRCm39) |
|
probably null |
Het |
| Ckm |
G |
A |
7: 19,155,156 (GRCm39) |
G262S |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,231,898 (GRCm39) |
V412A |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,207,941 (GRCm39) |
S443R |
probably damaging |
Het |
| Hdgfl2 |
G |
T |
17: 56,405,733 (GRCm39) |
A481S |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,226,633 (GRCm39) |
V203M |
probably damaging |
Het |
| Kdelr3 |
T |
A |
15: 79,407,048 (GRCm39) |
V43D |
probably damaging |
Het |
| Macir |
A |
T |
1: 97,573,731 (GRCm39) |
S111R |
probably damaging |
Het |
| Mapk1 |
A |
T |
16: 16,836,144 (GRCm39) |
|
probably benign |
Het |
| Nfic |
T |
C |
10: 81,243,478 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,786,331 (GRCm39) |
T625A |
probably benign |
Het |
| Psd2 |
A |
G |
18: 36,113,388 (GRCm39) |
S287G |
probably benign |
Het |
| Smap2 |
A |
T |
4: 120,830,395 (GRCm39) |
F247I |
probably damaging |
Het |
| Spata4 |
T |
C |
8: 55,055,341 (GRCm39) |
|
probably benign |
Het |
| Tff2 |
T |
G |
17: 31,361,316 (GRCm39) |
E79A |
probably benign |
Het |
| Thsd7a |
C |
T |
6: 12,471,079 (GRCm39) |
C513Y |
probably damaging |
Het |
| Tshz1 |
A |
G |
18: 84,031,634 (GRCm39) |
S925P |
possibly damaging |
Het |
| Xrcc4 |
C |
A |
13: 90,210,151 (GRCm39) |
E98* |
probably null |
Het |
| Ypel3 |
A |
G |
7: 126,377,033 (GRCm39) |
T38A |
probably damaging |
Het |
| Zfhx2 |
C |
T |
14: 55,304,547 (GRCm39) |
G1146R |
probably damaging |
Het |
| Zfp446 |
T |
A |
7: 12,713,307 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
R4036:Klk1b8
|
UTSW |
7 |
43,447,511 (GRCm39) |
missense |
probably null |
0.00 |
|
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation