Incidental Mutation 'R3414:Klk1b26'
| ID |
475600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b26
|
| Ensembl Gene |
ENSMUSG00000053719 |
| Gene Name |
kallikrein 1-related petidase b26 |
| Synonyms |
Egfbp2, Klk26, EGF-BP type B, mGK-26, PRECE-2 |
| MMRRC Submission |
040632-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R3414 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43662102-43666393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43666297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 247
(I247V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048945]
|
| AlphaFold |
P36369 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048945
AA Change: I247V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047488
Gene: ENSMUSG00000053719
AA Change: I247V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
24 |
253 |
2.29e-92 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205780
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. The kallikrein genes are present in a large gene cluster on chromosome 7. The encoded preproprotein is proteolytically processed to generate a mature protein product. Expression of this gene in the submandibular gland is sexually dimorphic likely due to both transcriptional and post-transcriptional regulation. This gene is thought to be distinct from the Egfbp2 gene (Gene ID: 13647), with which it shares 98% identity (PMIDs: 1959648, 9685728), however, it is not clear if both genes are present in all strains of mice. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,383,559 (GRCm39) |
Q802L |
probably benign |
Het |
| Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
| AW554918 |
C |
A |
18: 25,533,129 (GRCm39) |
T261K |
possibly damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,389,204 (GRCm39) |
V1178A |
probably benign |
Het |
| Ddx18 |
T |
C |
1: 121,489,878 (GRCm39) |
N177S |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,083,807 (GRCm39) |
K621E |
probably damaging |
Het |
| Eef2 |
G |
T |
10: 81,013,692 (GRCm39) |
R66L |
probably damaging |
Het |
| Ergic2 |
A |
G |
6: 148,108,179 (GRCm39) |
|
probably benign |
Het |
| Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,524,771 (GRCm39) |
D234E |
possibly damaging |
Het |
| Ifi202b |
A |
G |
1: 173,791,479 (GRCm39) |
S400P |
probably benign |
Het |
| Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
| Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
| Il7 |
G |
T |
3: 7,641,093 (GRCm39) |
Q67K |
probably benign |
Het |
| Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
| Klrc1 |
A |
G |
6: 129,654,726 (GRCm39) |
|
probably null |
Het |
| Lama1 |
T |
C |
17: 68,044,598 (GRCm39) |
C166R |
probably damaging |
Het |
| Mrps5 |
A |
G |
2: 127,438,832 (GRCm39) |
D219G |
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,501,100 (GRCm39) |
T806A |
probably damaging |
Het |
| Naip2 |
G |
A |
13: 100,325,771 (GRCm39) |
R46* |
probably null |
Het |
| Nos2 |
A |
T |
11: 78,848,414 (GRCm39) |
Y1107F |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,190,047 (GRCm39) |
I135T |
probably damaging |
Het |
| Or13c7b |
C |
T |
4: 43,821,258 (GRCm39) |
M34I |
probably benign |
Het |
| Or2d4 |
G |
T |
7: 106,543,383 (GRCm39) |
S275* |
probably null |
Het |
| Or6c65 |
A |
G |
10: 129,604,301 (GRCm39) |
H312R |
probably benign |
Het |
| Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,158,142 (GRCm39) |
S252R |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,738 (GRCm39) |
T310S |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,386,305 (GRCm39) |
L227Q |
probably damaging |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sec24a |
T |
A |
11: 51,620,285 (GRCm39) |
N456Y |
probably damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Spata13 |
A |
G |
14: 60,944,172 (GRCm39) |
T522A |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
| Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,234,658 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
C |
1: 192,810,810 (GRCm39) |
S64R |
possibly damaging |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,696 (GRCm39) |
M205K |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,468,883 (GRCm39) |
K3014E |
probably damaging |
Het |
|
| Other mutations in Klk1b26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00578:Klk1b26
|
APN |
7 |
43,666,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02179:Klk1b26
|
APN |
7 |
43,665,736 (GRCm39) |
missense |
probably benign |
|
|
IGL03190:Klk1b26
|
APN |
7 |
43,662,151 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0391:Klk1b26
|
UTSW |
7 |
43,662,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0483:Klk1b26
|
UTSW |
7 |
43,665,772 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1499:Klk1b26
|
UTSW |
7 |
43,665,810 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1549:Klk1b26
|
UTSW |
7 |
43,665,826 (GRCm39) |
splice site |
probably benign |
|
|
R1991:Klk1b26
|
UTSW |
7 |
43,666,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2103:Klk1b26
|
UTSW |
7 |
43,666,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2998:Klk1b26
|
UTSW |
7 |
43,666,222 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4990:Klk1b26
|
UTSW |
7 |
43,665,673 (GRCm39) |
splice site |
probably null |
|
|
R4991:Klk1b26
|
UTSW |
7 |
43,665,673 (GRCm39) |
splice site |
probably null |
|
|
R5527:Klk1b26
|
UTSW |
7 |
43,662,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5796:Klk1b26
|
UTSW |
7 |
43,665,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6816:Klk1b26
|
UTSW |
7 |
43,666,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6938:Klk1b26
|
UTSW |
7 |
43,665,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7197:Klk1b26
|
UTSW |
7 |
43,665,821 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7243:Klk1b26
|
UTSW |
7 |
43,666,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7243:Klk1b26
|
UTSW |
7 |
43,665,691 (GRCm39) |
missense |
not run |
|
|
R7253:Klk1b26
|
UTSW |
7 |
43,664,213 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7423:Klk1b26
|
UTSW |
7 |
43,664,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8270:Klk1b26
|
UTSW |
7 |
43,665,544 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8342:Klk1b26
|
UTSW |
7 |
43,665,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Klk1b26
|
UTSW |
7 |
43,665,420 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2017-05-11 |
Incidental Mutation