Incidental Mutation 'IGL03190:Klk1b26'
| ID |
412602 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klk1b26
|
| Ensembl Gene |
ENSMUSG00000053719 |
| Gene Name |
kallikrein 1-related petidase b26 |
| Synonyms |
Egfbp2, Klk26, EGF-BP type B, mGK-26, PRECE-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
IGL03190
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
43662102-43666393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43662151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 3
(F3S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048945]
|
| AlphaFold |
P36369 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048945
AA Change: F3S
PolyPhen 2
Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000047488
Gene: ENSMUSG00000053719
AA Change: F3S
| 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: ENSMUST00000206650
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
T |
14: 56,016,510 (GRCm39) |
C314S |
probably damaging |
Het |
| Agr2 |
T |
A |
12: 36,048,634 (GRCm39) |
I128N |
probably damaging |
Het |
| Akr1c6 |
T |
C |
13: 4,496,412 (GRCm39) |
I91T |
possibly damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,990,909 (GRCm39) |
I221V |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
| Atp13a3 |
A |
T |
16: 30,141,766 (GRCm39) |
M1129K |
probably benign |
Het |
| Atp6v0a4 |
T |
A |
6: 38,031,491 (GRCm39) |
Q670L |
probably benign |
Het |
| Bank1 |
T |
C |
3: 135,806,185 (GRCm39) |
Y483C |
probably damaging |
Het |
| Bcan |
A |
T |
3: 87,900,357 (GRCm39) |
|
probably benign |
Het |
| Bcl11a |
G |
A |
11: 24,108,333 (GRCm39) |
E104K |
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,673,208 (GRCm39) |
Q368* |
probably null |
Het |
| Clcn1 |
T |
A |
6: 42,267,037 (GRCm39) |
Y71N |
probably benign |
Het |
| Cul2 |
C |
T |
18: 3,429,634 (GRCm39) |
T498I |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,035,390 (GRCm39) |
D3014G |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,445,636 (GRCm39) |
|
probably benign |
Het |
| Il36g |
C |
A |
2: 24,077,272 (GRCm39) |
S28* |
probably null |
Het |
| Itgb3bp |
A |
G |
4: 99,677,923 (GRCm39) |
|
probably benign |
Het |
| Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
| Lin52 |
T |
C |
12: 84,504,732 (GRCm39) |
V39A |
probably damaging |
Het |
| Magt1 |
A |
C |
X: 105,032,622 (GRCm39) |
N242K |
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,588,627 (GRCm39) |
M1118V |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,734 (GRCm39) |
M136K |
probably damaging |
Het |
| Or6k2 |
T |
C |
1: 173,987,110 (GRCm39) |
V257A |
probably damaging |
Het |
| Paqr5 |
A |
C |
9: 61,880,084 (GRCm39) |
L56R |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,396 (GRCm39) |
F452S |
probably damaging |
Het |
| Prdm5 |
T |
A |
6: 65,833,116 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
A |
G |
12: 100,524,907 (GRCm39) |
|
probably benign |
Het |
| Slc22a5 |
A |
G |
11: 53,765,840 (GRCm39) |
F249L |
probably benign |
Het |
| Spata31f1a |
C |
A |
4: 42,848,362 (GRCm39) |
G1265C |
probably benign |
Het |
| Ttll2 |
T |
C |
17: 7,618,779 (GRCm39) |
K383E |
probably benign |
Het |
| Ube2o |
G |
A |
11: 116,435,954 (GRCm39) |
P353L |
probably damaging |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,110 (GRCm39) |
D174G |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,192,643 (GRCm39) |
|
probably null |
Het |
| Xpnpep2 |
T |
A |
X: 47,207,205 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
T |
A |
4: 90,111,994 (GRCm39) |
S45T |
possibly damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,855 (GRCm39) |
|
probably benign |
Het |
| Zfyve19 |
G |
A |
2: 119,046,717 (GRCm39) |
A304T |
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 |
|
|
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 |
|
R3414:Klk1b26
|
UTSW |
7 |
43,666,297 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation