Incidental Mutation 'R2418:Klkb1'
| ID |
249077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klkb1
|
| Ensembl Gene |
ENSMUSG00000109764 |
| Gene Name |
kallikrein B, plasma 1 |
| Synonyms |
PSA, Kal3, Klk3, Kal-3 |
| MMRRC Submission |
040380-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2418 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
45719725-45747872 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45742149 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 43
(D43E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026907
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026907]
|
| AlphaFold |
P26262 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026907
AA Change: D43E
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000026907
Gene: ENSMUSG00000109764
AA Change: D43E
| Domain | Start | End | E-Value | Type |
|---|
|
APPLE
|
21 |
104 |
1.96e-40 |
SMART |
|
APPLE
|
111 |
194 |
3.93e-40 |
SMART |
|
APPLE
|
201 |
284 |
2.65e-37 |
SMART |
|
APPLE
|
292 |
375 |
1.34e-33 |
SMART |
|
Tryp_SPc
|
390 |
621 |
2.22e-99 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116473
|
| SMART Domains |
Protein: ENSMUSP00000112174
Gene: ENSMUSG00000031640
| Domain | Start | End | E-Value | Type |
|---|
|
APPLE
|
21 |
104 |
1.96e-40 |
SMART |
|
APPLE
|
111 |
194 |
3.93e-40 |
SMART |
|
APPLE
|
201 |
284 |
2.65e-37 |
SMART |
|
APPLE
|
292 |
375 |
1.34e-33 |
SMART |
|
Tryp_SPc
|
390 |
621 |
2.22e-99 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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 processing to generate a disulfide-linked heterodimeric enzyme comprised of heavy and light chains. A complete deletion of the encoded protein prevents occlusive thrombus formation in mice with a minimal role in provoked bleeding. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced hematoma expansion in streptozotocin-induced diabetic mice subjected to autologous blood injection, and prolonged activated partial thromboplastin time. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
G |
A |
2: 25,328,001 (GRCm39) |
A768T |
probably benign |
Het |
| Acox3 |
A |
G |
5: 35,761,982 (GRCm39) |
N442S |
probably benign |
Het |
| Acp5 |
C |
A |
9: 22,041,248 (GRCm39) |
V60L |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,122,997 (GRCm39) |
D501G |
probably damaging |
Het |
| Bcorl1 |
A |
G |
X: 47,459,418 (GRCm39) |
T425A |
probably damaging |
Het |
| Btd |
G |
A |
14: 31,363,093 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
A |
C |
5: 123,392,331 (GRCm39) |
|
probably benign |
Het |
| Cfap74 |
T |
A |
4: 155,540,166 (GRCm39) |
|
probably benign |
Het |
| Cnot8 |
G |
A |
11: 58,006,136 (GRCm39) |
G222R |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,510,657 (GRCm39) |
A205E |
unknown |
Het |
| Cwf19l1 |
T |
C |
19: 44,119,911 (GRCm39) |
T77A |
probably benign |
Het |
| Cyp2b9 |
A |
G |
7: 25,886,132 (GRCm39) |
T100A |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,996 (GRCm39) |
L485P |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 65,986,241 (GRCm39) |
L1131* |
probably null |
Het |
| Dnase1l3 |
T |
A |
14: 7,968,089 (GRCm38) |
E272V |
possibly damaging |
Het |
| Dscc1 |
G |
A |
15: 54,946,820 (GRCm39) |
R302* |
probably null |
Het |
| Elk3 |
T |
C |
10: 93,120,689 (GRCm39) |
N50S |
probably damaging |
Het |
| Fmo3 |
A |
T |
1: 162,794,527 (GRCm39) |
I181K |
probably benign |
Het |
| Golga3 |
T |
C |
5: 110,349,734 (GRCm39) |
I655T |
probably damaging |
Het |
| Hspa1l |
A |
T |
17: 35,196,164 (GRCm39) |
T68S |
probably benign |
Het |
| Itgax |
C |
T |
7: 127,741,505 (GRCm39) |
R839W |
probably damaging |
Het |
| Itk |
A |
G |
11: 46,229,044 (GRCm39) |
F379L |
probably damaging |
Het |
| Kif7 |
C |
A |
7: 79,348,441 (GRCm39) |
R1300L |
probably benign |
Het |
| Kmt5b |
C |
T |
19: 3,857,266 (GRCm39) |
A318V |
probably benign |
Het |
| Krt78 |
T |
C |
15: 101,855,069 (GRCm39) |
Y914C |
probably benign |
Het |
| Lactb2 |
T |
C |
1: 13,730,563 (GRCm39) |
T38A |
possibly damaging |
Het |
| Lmbr1l |
A |
C |
15: 98,805,418 (GRCm39) |
F361C |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,722,891 (GRCm39) |
D329G |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,986,603 (GRCm39) |
V939E |
probably benign |
Het |
| Mcm8 |
C |
T |
2: 132,666,658 (GRCm39) |
A233V |
probably benign |
Het |
| Mcur1 |
C |
T |
13: 43,703,013 (GRCm39) |
V241M |
possibly damaging |
Het |
| Mical2 |
G |
T |
7: 111,919,941 (GRCm39) |
|
probably null |
Het |
| Nudt13 |
A |
G |
14: 20,361,581 (GRCm39) |
E219G |
probably damaging |
Het |
| Or4c107 |
A |
G |
2: 88,789,380 (GRCm39) |
N190S |
probably benign |
Het |
| Or52d3 |
A |
T |
7: 104,229,141 (GRCm39) |
H96L |
probably benign |
Het |
| Or6b1 |
A |
G |
6: 42,814,983 (GRCm39) |
H56R |
probably benign |
Het |
| Osbpl7 |
A |
C |
11: 96,950,004 (GRCm39) |
D395A |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,923,415 (GRCm39) |
C495R |
probably damaging |
Het |
| Pcdhac1 |
T |
C |
18: 37,224,381 (GRCm39) |
L398P |
probably benign |
Het |
| Pcnx4 |
T |
A |
12: 72,603,037 (GRCm39) |
F433Y |
probably damaging |
Het |
| Pdp1 |
G |
A |
4: 11,961,838 (GRCm39) |
P158S |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 110,397,353 (GRCm39) |
*2152C |
probably null |
Het |
| Plcxd3 |
G |
T |
15: 4,604,245 (GRCm39) |
K284N |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,272 (GRCm39) |
V1058A |
possibly damaging |
Het |
| Ptbp1 |
T |
C |
10: 79,695,511 (GRCm39) |
Y187H |
probably damaging |
Het |
| Resp18 |
T |
C |
1: 75,248,955 (GRCm39) |
*176W |
probably null |
Het |
| Rps6ka2 |
A |
C |
17: 7,566,738 (GRCm39) |
Q665H |
possibly damaging |
Het |
| Rtn1 |
T |
C |
12: 72,351,052 (GRCm39) |
T386A |
probably benign |
Het |
| Samt2 |
A |
T |
X: 153,358,223 (GRCm39) |
|
probably null |
Het |
| Scn1a |
T |
C |
2: 66,104,187 (GRCm39) |
N1663S |
probably damaging |
Het |
| Smyd1 |
A |
T |
6: 71,216,537 (GRCm39) |
I70N |
probably damaging |
Het |
| Tas2r105 |
T |
C |
6: 131,664,410 (GRCm39) |
E6G |
probably damaging |
Het |
| Tchh |
G |
T |
3: 93,352,936 (GRCm39) |
R792L |
unknown |
Het |
| Tenm3 |
C |
T |
8: 48,729,693 (GRCm39) |
D1438N |
possibly damaging |
Het |
| Tmem184b |
A |
G |
15: 79,250,143 (GRCm39) |
Y211H |
possibly damaging |
Het |
| Top3a |
C |
A |
11: 60,638,842 (GRCm39) |
G551V |
possibly damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,240,824 (GRCm39) |
N227I |
probably benign |
Het |
| Vmn1r203 |
T |
A |
13: 22,709,004 (GRCm39) |
S262T |
possibly damaging |
Het |
| Vmn1r204 |
T |
G |
13: 22,740,420 (GRCm39) |
L17R |
probably damaging |
Het |
|
| Other mutations in Klkb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Klkb1
|
APN |
8 |
45,747,105 (GRCm39) |
splice site |
probably benign |
|
|
IGL01756:Klkb1
|
APN |
8 |
45,725,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01783:Klkb1
|
APN |
8 |
45,729,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01809:Klkb1
|
APN |
8 |
45,729,090 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02128:Klkb1
|
APN |
8 |
45,740,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02512:Klkb1
|
APN |
8 |
45,729,277 (GRCm39) |
splice site |
probably benign |
|
|
E0374:Klkb1
|
UTSW |
8 |
45,742,128 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0048:Klkb1
|
UTSW |
8 |
45,742,233 (GRCm39) |
splice site |
probably benign |
|
|
R0149:Klkb1
|
UTSW |
8 |
45,729,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Klkb1
|
UTSW |
8 |
45,725,446 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0551:Klkb1
|
UTSW |
8 |
45,731,003 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1103:Klkb1
|
UTSW |
8 |
45,729,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1420:Klkb1
|
UTSW |
8 |
45,729,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1930:Klkb1
|
UTSW |
8 |
45,728,514 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1931:Klkb1
|
UTSW |
8 |
45,728,514 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2125:Klkb1
|
UTSW |
8 |
45,728,541 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2419:Klkb1
|
UTSW |
8 |
45,742,149 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3938:Klkb1
|
UTSW |
8 |
45,735,838 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4445:Klkb1
|
UTSW |
8 |
45,730,092 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4461:Klkb1
|
UTSW |
8 |
45,726,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4969:Klkb1
|
UTSW |
8 |
45,735,814 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4974:Klkb1
|
UTSW |
8 |
45,739,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5113:Klkb1
|
UTSW |
8 |
45,723,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5117:Klkb1
|
UTSW |
8 |
45,742,149 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5339:Klkb1
|
UTSW |
8 |
45,723,748 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5891:Klkb1
|
UTSW |
8 |
45,723,703 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6230:Klkb1
|
UTSW |
8 |
45,736,252 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6554:Klkb1
|
UTSW |
8 |
45,726,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6564:Klkb1
|
UTSW |
8 |
45,726,671 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7130:Klkb1
|
UTSW |
8 |
45,728,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7497:Klkb1
|
UTSW |
8 |
45,747,827 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7599:Klkb1
|
UTSW |
8 |
45,731,150 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7867:Klkb1
|
UTSW |
8 |
45,740,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Klkb1
|
UTSW |
8 |
45,728,515 (GRCm39) |
nonsense |
probably null |
|
|
R9254:Klkb1
|
UTSW |
8 |
45,742,067 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9311:Klkb1
|
UTSW |
8 |
45,722,983 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9393:Klkb1
|
UTSW |
8 |
45,729,392 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9522:Klkb1
|
UTSW |
8 |
45,730,052 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9756:Klkb1
|
UTSW |
8 |
45,735,811 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Klkb1
|
UTSW |
8 |
45,726,666 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Klkb1
|
UTSW |
8 |
45,728,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCTAGGAGCTTCTGATG -3'
(R):5'- AGACCCGTGAAGTTGTAATGAC -3'
Sequencing Primer
(F):5'- CCTAGGAGCTTCTGATGCAAAG -3'
(R):5'- CCCGTGAAGTTGTAATGACTATTAGG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation