Incidental Mutation 'R2998:Klk1b26'
| ID |
257217 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.053)
|
| Stock # |
R2998 (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 T
at 43666222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 222
(I222F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048945]
|
| AlphaFold |
P36369 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048945
AA Change: I222F
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000047488
Gene: ENSMUSG00000053719
AA Change: I222F
| 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: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| 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: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C3 |
T |
A |
17: 57,517,284 (GRCm39) |
T1284S |
probably benign |
Het |
| Fggy |
T |
C |
4: 95,737,822 (GRCm39) |
C140R |
probably benign |
Het |
| Or5al7 |
T |
A |
2: 85,992,364 (GRCm39) |
I310L |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,648,687 (GRCm39) |
C251S |
probably damaging |
Het |
| Pop7 |
T |
C |
5: 137,500,225 (GRCm39) |
D36G |
probably damaging |
Het |
| Rad51b |
T |
A |
12: 79,349,263 (GRCm39) |
L33H |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,561,530 (GRCm39) |
E103G |
probably damaging |
Het |
| Slc13a2 |
T |
C |
11: 78,295,611 (GRCm39) |
D85G |
probably damaging |
Het |
| Stat1 |
T |
A |
1: 52,190,408 (GRCm39) |
N548K |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,286,797 (GRCm39) |
Y683N |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCCCTGGAAGAGATGGC -3'
(R):5'- ACTCCAGTAGTACAGAGAATGTCAG -3'
Sequencing Primer
(F):5'- TGGAAGAGATGGCCACCC -3'
(R):5'- GACCTTAAACTCATTTGCTTCATGG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation