Incidental Mutation 'R1105:Klk1b16'
| ID |
98440 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b16
|
| Ensembl Gene |
ENSMUSG00000038968 |
| Gene Name |
kallikrein 1-related peptidase b16 |
| Synonyms |
mGk-16, Klk16 |
| MMRRC Submission |
039178-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1105 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43786191-43791034 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43788937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 57
(R57C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005933
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005933]
|
| AlphaFold |
P04071 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005933
AA Change: R57C
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005933
Gene: ENSMUSG00000038968
AA Change: R57C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
24 |
253 |
7.64e-80 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206376
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.4%
|
| 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: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Bcl6 |
G |
T |
16: 23,784,905 (GRCm39) |
D698E |
probably benign |
Het |
| Catsperz |
A |
T |
19: 6,902,303 (GRCm39) |
Y64N |
probably benign |
Het |
| Clstn2 |
T |
C |
9: 97,465,552 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Duox1 |
A |
T |
2: 122,168,183 (GRCm39) |
T1103S |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,916,434 (GRCm39) |
S292P |
probably damaging |
Het |
| Hs3st1 |
GGTACAGGCTGCGGTTGAGAGCCTTGTA |
GGTA |
5: 39,772,041 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,302,779 (GRCm39) |
S752G |
probably benign |
Het |
| Ndrg1 |
T |
A |
15: 66,812,080 (GRCm39) |
N204Y |
probably damaging |
Het |
| Ripk1 |
T |
C |
13: 34,212,150 (GRCm39) |
Y487H |
probably benign |
Het |
| Rpl18a |
T |
C |
8: 71,348,658 (GRCm39) |
N77S |
probably damaging |
Het |
| Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
probably damaging |
Het |
|
| Other mutations in Klk1b16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Klk1b16
|
APN |
7 |
43,790,102 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01529:Klk1b16
|
APN |
7 |
43,790,163 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1106:Klk1b16
|
UTSW |
7 |
43,788,937 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1559:Klk1b16
|
UTSW |
7 |
43,790,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3883:Klk1b16
|
UTSW |
7 |
43,788,887 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3884:Klk1b16
|
UTSW |
7 |
43,788,887 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4152:Klk1b16
|
UTSW |
7 |
43,789,973 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4398:Klk1b16
|
UTSW |
7 |
43,790,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5231:Klk1b16
|
UTSW |
7 |
43,786,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5389:Klk1b16
|
UTSW |
7 |
43,790,412 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5470:Klk1b16
|
UTSW |
7 |
43,786,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5532:Klk1b16
|
UTSW |
7 |
43,790,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5690:Klk1b16
|
UTSW |
7 |
43,790,318 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5717:Klk1b16
|
UTSW |
7 |
43,788,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5749:Klk1b16
|
UTSW |
7 |
43,790,210 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6589:Klk1b16
|
UTSW |
7 |
43,790,894 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7084:Klk1b16
|
UTSW |
7 |
43,788,910 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7336:Klk1b16
|
UTSW |
7 |
43,790,907 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8281:Klk1b16
|
UTSW |
7 |
43,790,971 (GRCm39) |
missense |
probably benign |
|
|
R8358:Klk1b16
|
UTSW |
7 |
43,790,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9002:Klk1b16
|
UTSW |
7 |
43,790,189 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9010:Klk1b16
|
UTSW |
7 |
43,790,177 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9013:Klk1b16
|
UTSW |
7 |
43,790,332 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0026:Klk1b16
|
UTSW |
7 |
43,790,368 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGCTTAGCTGTGTCCTGCAAATG -3'
(R):5'- TGTCCTCAGAGTGGACAGAAGGTC -3'
Sequencing Primer
(F):5'- GTCCAGTCTCGAATAGTTGGAG -3'
(R):5'- GAGTGAGGACATCTCTCACAGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation