Incidental Mutation 'IGL00934:Klk1b9'
| ID |
27830 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klk1b9
|
| Ensembl Gene |
ENSMUSG00000059042 |
| Gene Name |
kallikrein 1-related peptidase b9 |
| Synonyms |
Egfbp3, Klk9, Egfbp-3, mGk-9 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL00934
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43625485-43629800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43627878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 59
(W59R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081399]
|
| AlphaFold |
P15949 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081399
AA Change: W59R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080133
Gene: ENSMUSG00000059042
AA Change: W59R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
24 |
253 |
1.54e-98 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206796
|
| 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: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
A |
T |
3: 59,659,474 (GRCm39) |
Y309F |
probably benign |
Het |
| Acrv1 |
T |
A |
9: 36,605,688 (GRCm39) |
H78Q |
possibly damaging |
Het |
| Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
| Ccr1 |
A |
G |
9: 123,763,777 (GRCm39) |
L251P |
probably damaging |
Het |
| Dgkb |
G |
A |
12: 38,477,455 (GRCm39) |
A622T |
probably damaging |
Het |
| Fat4 |
C |
A |
3: 38,944,822 (GRCm39) |
D1238E |
probably damaging |
Het |
| Gfpt2 |
G |
T |
11: 49,699,950 (GRCm39) |
V102F |
probably benign |
Het |
| Kif2a |
A |
C |
13: 107,105,301 (GRCm39) |
|
probably benign |
Het |
| Lonp1 |
T |
C |
17: 56,921,683 (GRCm39) |
T875A |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,948,610 (GRCm39) |
Y802C |
probably damaging |
Het |
| Neurl1b |
C |
A |
17: 26,651,152 (GRCm39) |
D141E |
probably damaging |
Het |
| Or2f1 |
A |
T |
6: 42,721,625 (GRCm39) |
Y218F |
probably damaging |
Het |
| Or51b17 |
G |
T |
7: 103,542,071 (GRCm39) |
Y290* |
probably null |
Het |
| Pcdhga3 |
A |
G |
18: 37,808,486 (GRCm39) |
E313G |
possibly damaging |
Het |
| Usp32 |
A |
T |
11: 84,897,902 (GRCm39) |
D1146E |
probably damaging |
Het |
|
| Other mutations in Klk1b9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01330:Klk1b9
|
APN |
7 |
43,627,867 (GRCm39) |
nonsense |
probably null |
|
|
IGL01531:Klk1b9
|
APN |
7 |
43,441,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Klk1b9
|
APN |
7 |
43,445,063 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03329:Klk1b9
|
APN |
7 |
43,628,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0206:Klk1b9
|
UTSW |
7 |
43,628,854 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0208:Klk1b9
|
UTSW |
7 |
43,628,854 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0452:Klk1b9
|
UTSW |
7 |
43,443,675 (GRCm39) |
unclassified |
probably benign |
|
|
R0562:Klk1b9
|
UTSW |
7 |
43,445,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Klk1b9
|
UTSW |
7 |
43,628,796 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1171:Klk1b9
|
UTSW |
7 |
43,443,817 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1289:Klk1b9
|
UTSW |
7 |
43,627,848 (GRCm39) |
missense |
probably benign |
|
|
R1437:Klk1b9
|
UTSW |
7 |
43,629,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Klk1b9
|
UTSW |
7 |
43,628,979 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4385:Klk1b9
|
UTSW |
7 |
43,443,699 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5006:Klk1b9
|
UTSW |
7 |
43,628,711 (GRCm39) |
nonsense |
probably null |
|
|
R5011:Klk1b9
|
UTSW |
7 |
43,445,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Klk1b9
|
UTSW |
7 |
43,445,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6321:Klk1b9
|
UTSW |
7 |
43,443,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Klk1b9
|
UTSW |
7 |
43,629,159 (GRCm39) |
missense |
probably benign |
|
|
R7149:Klk1b9
|
UTSW |
7 |
43,628,841 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7652:Klk1b9
|
UTSW |
7 |
43,445,514 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7726:Klk1b9
|
UTSW |
7 |
43,627,840 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7911:Klk1b9
|
UTSW |
7 |
43,629,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8769:Klk1b9
|
UTSW |
7 |
43,629,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8878:Klk1b9
|
UTSW |
7 |
43,443,782 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8914:Klk1b9
|
UTSW |
7 |
43,628,925 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9616:Klk1b9
|
UTSW |
7 |
43,628,795 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Klk1b9
|
UTSW |
7 |
43,443,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation