Incidental Mutation 'IGL00731:Klk1b21'
ID |
11662 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klk1b21
|
Ensembl Gene |
ENSMUSG00000066516 |
Gene Name |
kallikrein 1-related peptidase b21 |
Synonyms |
mGk-21, Klk21 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
IGL00731
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
43751752-43756007 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43755347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 182
(E182G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082582
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085455]
|
AlphaFold |
Q61759 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085455
AA Change: E182G
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000082582 Gene: ENSMUSG00000066516 AA Change: E182G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Tryp_SPc
|
24 |
253 |
9.09e-96 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205984
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
A |
G |
8: 111,771,501 (GRCm39) |
|
probably benign |
Het |
Adcy10 |
T |
C |
1: 165,400,183 (GRCm39) |
F1531L |
probably benign |
Het |
Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
Dab2 |
T |
C |
15: 6,465,191 (GRCm39) |
S463P |
possibly damaging |
Het |
Ehf |
C |
T |
2: 103,097,185 (GRCm39) |
|
probably null |
Het |
Fnbp4 |
G |
T |
2: 90,598,987 (GRCm39) |
V704L |
probably benign |
Het |
Gbp7 |
T |
C |
3: 142,252,189 (GRCm39) |
S591P |
probably benign |
Het |
Gpr155 |
A |
G |
2: 73,192,957 (GRCm39) |
L498P |
probably damaging |
Het |
Igll1 |
T |
C |
16: 16,678,783 (GRCm39) |
T176A |
probably benign |
Het |
Npat |
G |
A |
9: 53,473,386 (GRCm39) |
E393K |
probably damaging |
Het |
Npnt |
C |
T |
3: 132,610,418 (GRCm39) |
|
probably null |
Het |
Pde2a |
A |
G |
7: 101,157,306 (GRCm39) |
Y693C |
probably benign |
Het |
Ralgapa1 |
A |
G |
12: 55,749,237 (GRCm39) |
S1269P |
possibly damaging |
Het |
Rasal2 |
A |
C |
1: 156,985,334 (GRCm39) |
D804E |
probably benign |
Het |
Rdh10 |
A |
G |
1: 16,178,099 (GRCm39) |
N124D |
probably benign |
Het |
Slit3 |
G |
T |
11: 35,512,981 (GRCm39) |
D536Y |
probably damaging |
Het |
Snx24 |
C |
T |
18: 53,517,681 (GRCm39) |
|
probably benign |
Het |
Spink12 |
G |
A |
18: 44,241,177 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Klk1b21 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01710:Klk1b21
|
APN |
7 |
43,755,919 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02015:Klk1b21
|
APN |
7 |
43,753,782 (GRCm39) |
missense |
probably benign |
0.41 |
R0138:Klk1b21
|
UTSW |
7 |
43,755,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R0384:Klk1b21
|
UTSW |
7 |
43,754,917 (GRCm39) |
missense |
probably benign |
0.03 |
R1456:Klk1b21
|
UTSW |
7 |
43,754,923 (GRCm39) |
missense |
probably benign |
0.01 |
R2021:Klk1b21
|
UTSW |
7 |
43,755,418 (GRCm39) |
nonsense |
probably null |
|
R2119:Klk1b21
|
UTSW |
7 |
43,755,193 (GRCm39) |
missense |
probably benign |
|
R2265:Klk1b21
|
UTSW |
7 |
43,753,863 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2267:Klk1b21
|
UTSW |
7 |
43,753,863 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2269:Klk1b21
|
UTSW |
7 |
43,753,863 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5499:Klk1b21
|
UTSW |
7 |
43,755,100 (GRCm39) |
missense |
probably benign |
0.07 |
R5623:Klk1b21
|
UTSW |
7 |
43,754,989 (GRCm39) |
missense |
probably damaging |
0.98 |
R8151:Klk1b21
|
UTSW |
7 |
43,753,787 (GRCm39) |
nonsense |
probably null |
|
R8754:Klk1b21
|
UTSW |
7 |
43,755,912 (GRCm39) |
missense |
probably benign |
0.09 |
R9139:Klk1b21
|
UTSW |
7 |
43,754,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |