Incidental Mutation 'R3849:Klk1b1'
| ID |
275813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b1
|
| Ensembl Gene |
ENSMUSG00000063133 |
| Gene Name |
kallikrein 1-related peptidase b1 |
| Synonyms |
mK1, tissue kallikrein, Klk1, TK, mGK-1 |
| MMRRC Submission |
040897-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R3849 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43616175-43620742 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43618751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 43
(Y43H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077879
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078835]
|
| AlphaFold |
P00755 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078835
AA Change: Y43H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077879
Gene: ENSMUSG00000063133
AA Change: Y43H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
24 |
253 |
1.25e-98 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206796
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (52/52) |
| 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 cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous null mice display decreased left ventricular contractility, cardiac output, and stroke volume, a thin left ventricular wall, and impaired vasodilation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
A |
T |
7: 136,978,069 (GRCm39) |
N102K |
possibly damaging |
Het |
| Abca1 |
C |
T |
4: 53,061,481 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
T |
A |
7: 66,490,215 (GRCm39) |
L99Q |
possibly damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,336,783 (GRCm39) |
Q1564L |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,386,024 (GRCm39) |
V556E |
probably benign |
Het |
| Axin1 |
T |
A |
17: 26,406,771 (GRCm39) |
Y455N |
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 29,069,077 (GRCm39) |
|
probably null |
Het |
| Car8 |
T |
A |
4: 8,189,353 (GRCm39) |
I154F |
probably benign |
Het |
| Ccl27a |
T |
A |
4: 41,773,232 (GRCm39) |
T76S |
probably benign |
Het |
| Cep170 |
G |
A |
1: 176,583,409 (GRCm39) |
A990V |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,952,133 (GRCm39) |
T291S |
probably damaging |
Het |
| Col3a1 |
C |
A |
1: 45,361,150 (GRCm39) |
P112T |
unknown |
Het |
| Cpa4 |
T |
C |
6: 30,590,872 (GRCm39) |
F390S |
probably damaging |
Het |
| Cul5 |
T |
G |
9: 53,529,286 (GRCm39) |
M800L |
probably benign |
Het |
| Dst |
C |
T |
1: 34,251,400 (GRCm39) |
S4165F |
probably damaging |
Het |
| Dusp8 |
T |
C |
7: 141,643,802 (GRCm39) |
E37G |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,033,414 (GRCm39) |
N131S |
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,022,119 (GRCm39) |
Y378C |
probably damaging |
Het |
| Fcgr2b |
T |
C |
1: 170,795,704 (GRCm39) |
N75S |
possibly damaging |
Het |
| Foxp4 |
A |
G |
17: 48,186,453 (GRCm39) |
I442T |
unknown |
Het |
| Gp9 |
A |
G |
6: 87,756,133 (GRCm39) |
I49M |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,765,863 (GRCm39) |
G65D |
probably damaging |
Het |
| Hoxc10 |
T |
C |
15: 102,875,879 (GRCm39) |
V196A |
probably benign |
Het |
| Hpx |
A |
G |
7: 105,245,498 (GRCm39) |
C92R |
probably damaging |
Het |
| Ighv1-22 |
A |
G |
12: 114,710,301 (GRCm39) |
F9S |
possibly damaging |
Het |
| Kif24 |
C |
T |
4: 41,404,734 (GRCm39) |
R422H |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,159,531 (GRCm39) |
|
probably null |
Het |
| Lrguk |
A |
G |
6: 34,050,703 (GRCm39) |
D387G |
probably damaging |
Het |
| Lysmd1 |
G |
A |
3: 95,045,772 (GRCm39) |
G203D |
probably damaging |
Het |
| Mpnd |
T |
C |
17: 56,318,692 (GRCm39) |
S150P |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,183,729 (GRCm39) |
|
probably null |
Het |
| Mtr |
A |
G |
13: 12,262,251 (GRCm39) |
S152P |
probably benign |
Het |
| Naip2 |
A |
T |
13: 100,315,940 (GRCm39) |
L280Q |
probably damaging |
Het |
| Naip2 |
G |
C |
13: 100,315,941 (GRCm39) |
L280V |
probably damaging |
Het |
| Ndufa13 |
T |
C |
8: 70,354,260 (GRCm39) |
D9G |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,525,349 (GRCm39) |
F596I |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,394,504 (GRCm39) |
T702A |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,832,105 (GRCm39) |
Y200F |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,782,481 (GRCm39) |
|
probably benign |
Het |
| Plxna1 |
C |
A |
6: 89,333,501 (GRCm39) |
R376L |
probably damaging |
Het |
| Plxnc1 |
A |
G |
10: 94,630,294 (GRCm39) |
V1535A |
probably benign |
Het |
| Prdx5 |
A |
G |
19: 6,884,218 (GRCm39) |
L166P |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,476 (GRCm39) |
I289F |
unknown |
Het |
| Prss23 |
T |
C |
7: 89,158,959 (GRCm39) |
Y370C |
probably damaging |
Het |
| Rimbp3 |
A |
T |
16: 17,028,163 (GRCm39) |
H529L |
probably benign |
Het |
| Rnase2b |
T |
A |
14: 51,400,205 (GRCm39) |
H95Q |
probably damaging |
Het |
| Rnf103 |
C |
G |
6: 71,485,859 (GRCm39) |
C163W |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,749,753 (GRCm39) |
V1433A |
probably damaging |
Het |
| Rusf1 |
C |
T |
7: 127,884,380 (GRCm39) |
V201I |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,092,839 (GRCm39) |
Q5150* |
probably null |
Het |
| Tas2r110 |
T |
A |
6: 132,845,638 (GRCm39) |
I223N |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,881,752 (GRCm39) |
|
probably null |
Het |
| Vwa3a |
A |
T |
7: 120,361,687 (GRCm39) |
K133* |
probably null |
Het |
| Vwce |
T |
C |
19: 10,624,269 (GRCm39) |
S387P |
probably damaging |
Het |
| Zbtb41 |
T |
A |
1: 139,351,734 (GRCm39) |
H282Q |
probably benign |
Het |
|
| Other mutations in Klk1b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Klk1b1
|
APN |
7 |
43,620,593 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02794:Klk1b1
|
APN |
7 |
43,619,789 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL03266:Klk1b1
|
APN |
7 |
43,619,900 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0324:Klk1b1
|
UTSW |
7 |
43,620,165 (GRCm39) |
nonsense |
probably null |
|
|
R0689:Klk1b1
|
UTSW |
7 |
43,620,143 (GRCm39) |
missense |
probably benign |
|
|
R1552:Klk1b1
|
UTSW |
7 |
43,618,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1697:Klk1b1
|
UTSW |
7 |
43,619,750 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1737:Klk1b1
|
UTSW |
7 |
43,619,783 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2060:Klk1b1
|
UTSW |
7 |
43,620,047 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2159:Klk1b1
|
UTSW |
7 |
43,619,857 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2177:Klk1b1
|
UTSW |
7 |
43,618,695 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R2213:Klk1b1
|
UTSW |
7 |
43,619,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2509:Klk1b1
|
UTSW |
7 |
43,618,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:Klk1b1
|
UTSW |
7 |
43,618,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5567:Klk1b1
|
UTSW |
7 |
43,620,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6191:Klk1b1
|
UTSW |
7 |
43,620,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7162:Klk1b1
|
UTSW |
7 |
43,618,671 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7535:Klk1b1
|
UTSW |
7 |
43,619,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Klk1b1
|
UTSW |
7 |
43,620,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7901:Klk1b1
|
UTSW |
7 |
43,620,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8320:Klk1b1
|
UTSW |
7 |
43,619,767 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8379:Klk1b1
|
UTSW |
7 |
43,619,767 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8381:Klk1b1
|
UTSW |
7 |
43,619,767 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8383:Klk1b1
|
UTSW |
7 |
43,619,767 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8511:Klk1b1
|
UTSW |
7 |
43,619,767 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8867:Klk1b1
|
UTSW |
7 |
43,619,747 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9089:Klk1b1
|
UTSW |
7 |
43,620,668 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9179:Klk1b1
|
UTSW |
7 |
43,618,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9761:Klk1b1
|
UTSW |
7 |
43,618,739 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0012:Klk1b1
|
UTSW |
7 |
43,620,083 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1088:Klk1b1
|
UTSW |
7 |
43,619,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACCCTGTCCTGCTTAAC -3'
(R):5'- TACTCTGAACCCAAGGCTGG -3'
Sequencing Primer
(F):5'- GCTTAACTTTGTCCCCCAAAAGTG -3'
(R):5'- ATGGATAGACTTTCAGCCAGTCC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation