Incidental Mutation 'R6938:Klk1b26'
ID |
540383 |
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 |
045052-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.053)
|
Stock # |
R6938 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
43662102-43666393 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43665718 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 177
(T177S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048945]
|
AlphaFold |
P36369 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048945
AA Change: T177S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000047488 Gene: ENSMUSG00000053719 AA Change: T177S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
Tryp_SPc
|
24 |
253 |
2.29e-92 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot7 |
T |
C |
4: 152,302,351 (GRCm39) |
|
probably null |
Het |
Acp6 |
T |
C |
3: 97,082,949 (GRCm39) |
M320T |
probably benign |
Het |
Adam22 |
A |
T |
5: 8,196,499 (GRCm39) |
Y259N |
probably benign |
Het |
Akap9 |
C |
A |
5: 4,096,628 (GRCm39) |
A2501D |
possibly damaging |
Het |
Angpt2 |
G |
T |
8: 18,748,105 (GRCm39) |
S385* |
probably null |
Het |
Asxl2 |
G |
C |
12: 3,526,149 (GRCm39) |
R255T |
probably damaging |
Het |
Btg3 |
T |
C |
16: 78,157,216 (GRCm39) |
I244V |
probably benign |
Het |
Casr |
T |
C |
16: 36,316,283 (GRCm39) |
T596A |
probably damaging |
Het |
Ccl1 |
A |
T |
11: 82,067,684 (GRCm39) |
V82D |
probably damaging |
Het |
Col18a1 |
T |
A |
10: 76,948,333 (GRCm39) |
|
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,873,379 (GRCm39) |
D1243G |
probably benign |
Het |
Dnaaf9 |
A |
C |
2: 130,617,673 (GRCm39) |
H297Q |
probably benign |
Het |
Drc3 |
A |
T |
11: 60,284,949 (GRCm39) |
|
probably null |
Het |
Enpep |
T |
C |
3: 129,092,599 (GRCm39) |
D528G |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Gbp4 |
T |
C |
5: 105,282,943 (GRCm39) |
D109G |
probably damaging |
Het |
Gstz1 |
A |
G |
12: 87,193,943 (GRCm39) |
|
probably null |
Het |
Kctd10 |
C |
A |
5: 114,508,191 (GRCm39) |
E106* |
probably null |
Het |
Kctd20 |
G |
A |
17: 29,180,555 (GRCm39) |
G110S |
probably benign |
Het |
Kyat3 |
T |
A |
3: 142,431,183 (GRCm39) |
V118E |
probably damaging |
Het |
Maml3 |
T |
C |
3: 52,011,159 (GRCm39) |
K136E |
probably damaging |
Het |
Mex3d |
T |
C |
10: 80,218,074 (GRCm39) |
N381S |
possibly damaging |
Het |
Mmrn2 |
A |
T |
14: 34,120,671 (GRCm39) |
T514S |
probably benign |
Het |
Nlrp1b |
G |
A |
11: 71,109,042 (GRCm39) |
A153V |
probably damaging |
Het |
Or13e8 |
C |
T |
4: 43,696,286 (GRCm39) |
V296M |
probably damaging |
Het |
Pcolce |
T |
C |
5: 137,603,878 (GRCm39) |
T365A |
probably benign |
Het |
Plbd1 |
T |
C |
6: 136,593,985 (GRCm39) |
I377V |
probably benign |
Het |
Plk2 |
T |
A |
13: 110,533,214 (GRCm39) |
Y192* |
probably null |
Het |
Rev3l |
T |
A |
10: 39,738,706 (GRCm39) |
V2820D |
probably damaging |
Het |
Secisbp2l |
G |
T |
2: 125,592,272 (GRCm39) |
P650T |
probably damaging |
Het |
Slc9a5 |
T |
C |
8: 106,080,064 (GRCm39) |
L69P |
probably damaging |
Het |
Sp9 |
T |
C |
2: 73,103,616 (GRCm39) |
C57R |
probably damaging |
Het |
Tbl3 |
A |
T |
17: 24,924,187 (GRCm39) |
V190D |
possibly damaging |
Het |
Timm8b |
A |
G |
9: 50,516,294 (GRCm39) |
D49G |
possibly damaging |
Het |
Tmem231 |
T |
C |
8: 112,660,144 (GRCm39) |
S53G |
probably damaging |
Het |
Topbp1 |
T |
A |
9: 103,205,753 (GRCm39) |
V797D |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,803,886 (GRCm39) |
D1665E |
probably damaging |
Het |
Txk |
C |
A |
5: 72,856,492 (GRCm39) |
R433L |
probably damaging |
Het |
Vmn1r19 |
T |
C |
6: 57,381,992 (GRCm39) |
S182P |
possibly damaging |
Het |
Vps13b |
T |
G |
15: 35,423,344 (GRCm39) |
I221M |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,903,464 (GRCm39) |
N1082D |
probably benign |
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 |
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 |
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'- GATGTTGTGAAGCCCATCGC -3'
(R):5'- GCCTAGTCAGGGTGTTGAAG -3'
Sequencing Primer
(F):5'- CAAAGGAGCCCAAGCCGG -3'
(R):5'- CTAGTCAGGGTGTTGAAGTGGGAAC -3'
|
Posted On |
2018-11-06 |