Incidental Mutation 'R1227:Klk1b5'
| ID |
172409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b5
|
| Ensembl Gene |
ENSMUSG00000066512 |
| Gene Name |
kallikrein 1-related peptidase b5 |
| Synonyms |
mGK-5, Klk5 |
| MMRRC Submission |
039296-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R1227 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43865898-43870127 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 43496670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048444]
[ENSMUST00000205919]
|
| AlphaFold |
P15945 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048444
|
| SMART Domains |
Protein: ENSMUSP00000049339
Gene: ENSMUSG00000074155
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
67 |
286 |
9.24e-88 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205919
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.9%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd42 |
T |
A |
7: 92,254,508 (GRCm39) |
H367L |
possibly damaging |
Het |
| Arvcf |
C |
T |
16: 18,207,169 (GRCm39) |
R43C |
probably benign |
Het |
| Camk1g |
T |
C |
1: 193,029,741 (GRCm39) |
E453G |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,230,954 (GRCm39) |
L1378Q |
probably damaging |
Het |
| Cplx1 |
T |
C |
5: 108,673,262 (GRCm39) |
D53G |
possibly damaging |
Het |
| Ddx31 |
A |
G |
2: 28,747,187 (GRCm39) |
E222G |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Fermt2 |
A |
G |
14: 45,697,447 (GRCm39) |
S635P |
probably benign |
Het |
| Gls2 |
T |
C |
10: 128,035,533 (GRCm39) |
S104P |
probably damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,800,601 (GRCm39) |
S226A |
possibly damaging |
Het |
| Nuak1 |
T |
A |
10: 84,276,173 (GRCm39) |
T17S |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,217 (GRCm39) |
M159V |
probably benign |
Het |
| Or5p54 |
C |
A |
7: 107,554,259 (GRCm39) |
S137Y |
probably damaging |
Het |
| Prag1 |
G |
A |
8: 36,607,105 (GRCm39) |
E949K |
probably damaging |
Het |
| Pramel25 |
A |
G |
4: 143,520,134 (GRCm39) |
H126R |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,808,372 (GRCm39) |
L468P |
probably damaging |
Het |
| Sez6l |
C |
A |
5: 112,621,330 (GRCm39) |
C248F |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,711 (GRCm39) |
I210T |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,620,629 (GRCm39) |
G394S |
probably benign |
Het |
| Zfp108 |
T |
A |
7: 23,959,885 (GRCm39) |
W159R |
probably benign |
Het |
|
| Other mutations in Klk1b5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Klk1b5
|
APN |
7 |
43,865,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02379:Klk1b5
|
APN |
7 |
43,500,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0515:Klk1b5
|
UTSW |
7 |
43,867,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0706:Klk1b5
|
UTSW |
7 |
43,867,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1209:Klk1b5
|
UTSW |
7 |
43,496,422 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1261:Klk1b5
|
UTSW |
7 |
43,494,714 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1689:Klk1b5
|
UTSW |
7 |
43,869,969 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1845:Klk1b5
|
UTSW |
7 |
43,869,549 (GRCm39) |
missense |
probably benign |
|
|
R2153:Klk1b5
|
UTSW |
7 |
43,869,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3700:Klk1b5
|
UTSW |
7 |
43,500,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Klk1b5
|
UTSW |
7 |
43,494,696 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4825:Klk1b5
|
UTSW |
7 |
43,494,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7456:Klk1b5
|
UTSW |
7 |
43,500,255 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7556:Klk1b5
|
UTSW |
7 |
43,496,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8264:Klk1b5
|
UTSW |
7 |
43,869,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8402:Klk1b5
|
UTSW |
7 |
43,867,962 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8475:Klk1b5
|
UTSW |
7 |
43,500,204 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8711:Klk1b5
|
UTSW |
7 |
43,867,996 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8813:Klk1b5
|
UTSW |
7 |
43,496,549 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8886:Klk1b5
|
UTSW |
7 |
43,869,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9101:Klk1b5
|
UTSW |
7 |
43,500,205 (GRCm39) |
missense |
probably benign |
0.44 |
|
RF024:Klk1b5
|
UTSW |
7 |
43,491,798 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTCAGAGTGTTCAGAATCCGTC -3'
(R):5'- GGATAAGTGGAGTTGCATCCAGCC -3'
Sequencing Primer
(F):5'- GATGTTCCAGGGAATCAAATCC -3'
(R):5'- CGCAGAACATGGTCTTGTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation