Incidental Mutation 'R1289:Klk1b9'
| ID |
150733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b9
|
| Ensembl Gene |
ENSMUSG00000059042 |
| Gene Name |
kallikrein 1-related peptidase b9 |
| Synonyms |
Egfbp3, Klk9, Egfbp-3, mGk-9 |
| MMRRC Submission |
039355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1289 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43625485-43629800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43627848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 49
(I49L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081399]
|
| AlphaFold |
P15949 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081399
AA Change: I49L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080133
Gene: ENSMUSG00000059042
AA Change: I49L
| 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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.1%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,756 (GRCm39) |
Y367* |
probably null |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,115,026 (GRCm39) |
R997G |
possibly damaging |
Het |
| Brd10 |
T |
C |
19: 29,700,852 (GRCm39) |
I745M |
probably benign |
Het |
| Col22a1 |
T |
G |
15: 71,709,226 (GRCm39) |
K655T |
unknown |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Glcci1 |
G |
A |
6: 8,593,088 (GRCm39) |
V298I |
possibly damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Gm9956 |
T |
A |
10: 56,621,676 (GRCm39) |
S113T |
probably damaging |
Het |
| Gpr75 |
T |
C |
11: 30,842,706 (GRCm39) |
I537T |
probably benign |
Het |
| Hars2 |
T |
G |
18: 36,916,465 (GRCm39) |
|
probably null |
Het |
| Helq |
A |
G |
5: 100,944,330 (GRCm39) |
V260A |
probably damaging |
Het |
| Ift172 |
A |
C |
5: 31,438,320 (GRCm39) |
F46V |
probably damaging |
Het |
| Lrrk2 |
T |
G |
15: 91,696,563 (GRCm39) |
N2450K |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,554,764 (GRCm39) |
V867A |
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,488,400 (GRCm39) |
T645K |
possibly damaging |
Het |
| Nphs1 |
T |
C |
7: 30,170,603 (GRCm39) |
L931P |
probably damaging |
Het |
| Phf19 |
T |
C |
2: 34,786,042 (GRCm39) |
T476A |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,574,943 (GRCm39) |
I551V |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,475,630 (GRCm39) |
E4472V |
probably damaging |
Het |
| Tek |
T |
G |
4: 94,693,067 (GRCm39) |
F209V |
probably damaging |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Klk1b9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00934:Klk1b9
|
APN |
7 |
43,627,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATCACCTGACAATGTCCCCTG -3'
(R):5'- TCTGAACCCAAGACTGGATGGAGG -3'
Sequencing Primer
(F):5'- TGAACCCCATCCTGCTTAAC -3'
(R):5'- CCCAGGATATCACAGATAAACTTTC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation