Incidental Mutation 'R0515:Klk1b5'
| ID |
48189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b5
|
| Ensembl Gene |
ENSMUSG00000066512 |
| Gene Name |
kallikrein 1-related peptidase b5 |
| Synonyms |
mGK-5, Klk5 |
| MMRRC Submission |
038709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R0515 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43865898-43870127 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43867957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 43
(Y43C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074359]
|
| AlphaFold |
P15945 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000072123
|
| SMART Domains |
Protein: ENSMUSP00000071992
Gene: ENSMUSG00000062073
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
32 |
49 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074359
AA Change: Y43C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073964
Gene: ENSMUSG00000066512
AA Change: Y43C
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
24 |
253 |
1.49e-100 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206890
|
| Meta Mutation Damage Score |
0.2695 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
98% (40/41) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| App |
C |
T |
16: 84,900,232 (GRCm39) |
|
probably benign |
Het |
| Arhgap11a |
G |
A |
2: 113,667,816 (GRCm39) |
T395I |
possibly damaging |
Het |
| Arhgef38 |
T |
G |
3: 132,855,301 (GRCm39) |
H262P |
probably damaging |
Het |
| Cd96 |
A |
G |
16: 45,884,268 (GRCm39) |
|
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,477,599 (GRCm39) |
S2P |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,599,865 (GRCm39) |
S948P |
probably benign |
Het |
| Cyp3a41a |
A |
T |
5: 145,654,810 (GRCm39) |
H30Q |
probably damaging |
Het |
| Dcp2 |
C |
T |
18: 44,532,798 (GRCm39) |
L105F |
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,731,703 (GRCm39) |
V887A |
possibly damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,582,408 (GRCm39) |
V515A |
probably damaging |
Het |
| Gm11360 |
T |
A |
13: 28,140,143 (GRCm39) |
D2E |
probably damaging |
Het |
| Gpank1 |
G |
T |
17: 35,342,475 (GRCm39) |
A149S |
probably damaging |
Het |
| Gtf2i |
C |
A |
5: 134,271,773 (GRCm39) |
S792I |
probably damaging |
Het |
| Hvcn1 |
A |
G |
5: 122,371,582 (GRCm39) |
N41D |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,111,809 (GRCm39) |
D843G |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 102,904,829 (GRCm39) |
|
probably null |
Het |
| Mapk8ip1 |
A |
T |
2: 92,217,701 (GRCm39) |
I198N |
possibly damaging |
Het |
| Mill1 |
T |
C |
7: 17,998,798 (GRCm39) |
V336A |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,548,861 (GRCm39) |
M1001L |
probably benign |
Het |
| Nfe2 |
T |
A |
15: 103,157,854 (GRCm39) |
T46S |
probably null |
Het |
| Or8b40 |
T |
C |
9: 38,027,313 (GRCm39) |
S74P |
probably damaging |
Het |
| Or9q1 |
T |
C |
19: 13,805,185 (GRCm39) |
S192G |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,851,124 (GRCm39) |
V709A |
probably damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,270,098 (GRCm39) |
Q1261L |
probably damaging |
Het |
| Prl8a8 |
T |
A |
13: 27,692,350 (GRCm39) |
I214L |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,798,782 (GRCm39) |
T343M |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Siglecf |
T |
C |
7: 43,005,055 (GRCm39) |
|
probably null |
Het |
| Slco1b2 |
T |
C |
6: 141,615,136 (GRCm39) |
F347S |
possibly damaging |
Het |
| Sox13 |
A |
T |
1: 133,311,457 (GRCm39) |
Y592N |
probably damaging |
Het |
| Synj1 |
C |
T |
16: 90,790,910 (GRCm39) |
A84T |
possibly damaging |
Het |
| Tent5b |
A |
T |
4: 133,213,450 (GRCm39) |
H107L |
possibly damaging |
Het |
| Trpv5 |
T |
A |
6: 41,651,145 (GRCm39) |
|
probably benign |
Het |
| Tshz1 |
A |
G |
18: 84,034,090 (GRCm39) |
V106A |
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 |
|
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 |
|
R1227:Klk1b5
|
UTSW |
7 |
43,496,670 (GRCm39) |
splice site |
probably null |
|
|
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'- TCTGTACCCACAGCATAGATCTCCC -3'
(R):5'- TGGATAGTTTCAGCCAGTCCCACC -3'
Sequencing Primer
(F):5'- ATATATGGGTCCCTTCCCCAG -3'
(R):5'- ACCTGCCTGCCCTTCAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation