Incidental Mutation 'R0574:Klk1b27'
| ID |
46571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b27
|
| Ensembl Gene |
ENSMUSG00000063177 |
| Gene Name |
kallikrein 1-related peptidase b27 |
| Synonyms |
Klk27, mGK-27, Klk21l |
| MMRRC Submission |
038764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R0574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43701714-43706136 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43705525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 199
(L199Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079859]
|
| AlphaFold |
Q9JM71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079859
AA Change: L199Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078786
Gene: ENSMUSG00000063177
AA Change: L199Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
24 |
255 |
1.87e-97 |
SMART |
|
| Meta Mutation Damage Score |
0.8576 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
100% (34/34) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700099C18Rik |
T |
C |
17: 95,068,919 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,823,720 (GRCm39) |
I416V |
probably damaging |
Het |
| Actrt3 |
T |
C |
3: 30,653,829 (GRCm39) |
E57G |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,372 (GRCm39) |
S262P |
probably damaging |
Het |
| Aldh1a2 |
T |
C |
9: 71,188,990 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,801,274 (GRCm39) |
I670V |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,967,353 (GRCm39) |
D1009G |
probably damaging |
Het |
| Ddr2 |
G |
T |
1: 169,809,532 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,270,734 (GRCm39) |
|
probably null |
Het |
| Itga1 |
A |
C |
13: 115,103,097 (GRCm39) |
S1111R |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,091,323 (GRCm39) |
S329G |
probably benign |
Het |
| Man2b1 |
T |
G |
8: 85,823,405 (GRCm39) |
M913R |
probably benign |
Het |
| Mmp15 |
G |
A |
8: 96,092,029 (GRCm39) |
A80T |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,686,902 (GRCm39) |
Y177F |
probably damaging |
Het |
| Mynn |
T |
C |
3: 30,670,888 (GRCm39) |
S587P |
probably benign |
Het |
| Nfkbib |
C |
T |
7: 28,461,213 (GRCm39) |
V145I |
probably benign |
Het |
| Or1o3 |
G |
T |
17: 37,573,772 (GRCm39) |
S261Y |
probably damaging |
Het |
| Or4k15 |
A |
T |
14: 50,364,139 (GRCm39) |
Y35F |
probably damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,132 (GRCm39) |
F17L |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,258,231 (GRCm39) |
|
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,435,810 (GRCm39) |
G906D |
probably benign |
Het |
| Prl8a2 |
T |
A |
13: 27,532,883 (GRCm39) |
C32S |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,113 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
T |
C |
3: 95,681,669 (GRCm39) |
E408G |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,746,555 (GRCm39) |
H1999L |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,038,821 (GRCm39) |
|
probably benign |
Het |
| Snx3 |
T |
A |
10: 42,378,383 (GRCm39) |
N19K |
probably benign |
Het |
| Stx8 |
C |
T |
11: 67,864,078 (GRCm39) |
T46M |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,492,547 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,846,228 (GRCm39) |
S855P |
possibly damaging |
Het |
| Usp54 |
A |
G |
14: 20,606,322 (GRCm39) |
V1338A |
probably benign |
Het |
| Vmn1r214 |
A |
G |
13: 23,218,663 (GRCm39) |
I52M |
probably benign |
Het |
|
| Other mutations in Klk1b27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Klk1b27
|
APN |
7 |
43,705,567 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01328:Klk1b27
|
APN |
7 |
43,705,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01552:Klk1b27
|
APN |
7 |
43,704,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01632:Klk1b27
|
APN |
7 |
43,706,097 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4723:Klk1b27
|
UTSW |
7 |
43,705,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5800:Klk1b27
|
UTSW |
7 |
43,705,088 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6002:Klk1b27
|
UTSW |
7 |
43,705,114 (GRCm39) |
missense |
probably benign |
|
|
R6244:Klk1b27
|
UTSW |
7 |
43,703,974 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6513:Klk1b27
|
UTSW |
7 |
43,705,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6584:Klk1b27
|
UTSW |
7 |
43,703,935 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6633:Klk1b27
|
UTSW |
7 |
43,705,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7074:Klk1b27
|
UTSW |
7 |
43,705,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7495:Klk1b27
|
UTSW |
7 |
43,705,500 (GRCm39) |
missense |
probably benign |
|
|
R7830:Klk1b27
|
UTSW |
7 |
43,705,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8002:Klk1b27
|
UTSW |
7 |
43,705,445 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8969:Klk1b27
|
UTSW |
7 |
43,703,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8994:Klk1b27
|
UTSW |
7 |
43,705,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9020:Klk1b27
|
UTSW |
7 |
43,705,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9104:Klk1b27
|
UTSW |
7 |
43,705,310 (GRCm39) |
nonsense |
probably null |
|
|
X0024:Klk1b27
|
UTSW |
7 |
43,706,017 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAAACTGGACTGGACCCTGCTC -3'
(R):5'- AGTAGACAACCTGGAACTGACTCCC -3'
Sequencing Primer
(F):5'- TGGACCCTGCTCACCAC -3'
(R):5'- GACTCTAAGAGGCAGCTCTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation