Incidental Mutation 'IGL01788:Klk1'
ID |
155109 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klk1
|
Ensembl Gene |
ENSMUSG00000063903 |
Gene Name |
kallikrein 1 |
Synonyms |
Klk6, mGk-6, 0610007D04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL01788
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
43874784-43879042 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43878407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 189
(I189T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074659
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037220]
[ENSMUST00000075162]
[ENSMUST00000206144]
[ENSMUST00000206366]
[ENSMUST00000206686]
|
AlphaFold |
P15947 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037220
|
SMART Domains |
Protein: ENSMUSP00000048665 Gene: ENSMUSG00000038782
Domain | Start | End | E-Value | Type |
transmembrane domain
|
35 |
52 |
N/A |
INTRINSIC |
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000072123
|
SMART Domains |
Protein: ENSMUSP00000071992 Gene: ENSMUSG00000062073
Domain | Start | End | E-Value | Type |
transmembrane domain
|
32 |
49 |
N/A |
INTRINSIC |
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075162
AA Change: I189T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000074659 Gene: ENSMUSG00000063903 AA Change: I189T
Domain | Start | End | E-Value | Type |
Tryp_SPc
|
24 |
253 |
7.26e-104 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205329
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206144
AA Change: I87T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206366
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206686
|
Coding Region Coverage |
|
Validation Efficiency |
|
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. Mice lacking the encoded protein are unable to generate significant levels of kinins in most tissues, develop cardiovascular abnormalities and exhibit hypercalciuria of renal origin. This gene is located in a cluster of several related kallikrein genes on chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, Feb 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9230009I02Rik |
T |
G |
11: 50,982,542 (GRCm39) |
|
noncoding transcript |
Het |
Acp6 |
A |
G |
3: 97,073,198 (GRCm39) |
T80A |
probably damaging |
Het |
Adamtsl5 |
T |
C |
10: 80,180,757 (GRCm39) |
T102A |
probably benign |
Het |
Adcy6 |
C |
A |
15: 98,494,400 (GRCm39) |
E812* |
probably null |
Het |
Apol6 |
G |
A |
15: 76,935,216 (GRCm39) |
V162I |
possibly damaging |
Het |
Atp6v1h |
T |
A |
1: 5,220,206 (GRCm39) |
M396K |
possibly damaging |
Het |
B3gnt8 |
A |
G |
7: 25,328,613 (GRCm39) |
T348A |
probably damaging |
Het |
Cgnl1 |
A |
G |
9: 71,562,672 (GRCm39) |
V869A |
probably benign |
Het |
Dcaf5 |
A |
T |
12: 80,395,098 (GRCm39) |
I357N |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,749,903 (GRCm39) |
I165V |
probably benign |
Het |
Dlgap2 |
T |
A |
8: 14,893,631 (GRCm39) |
I982K |
probably benign |
Het |
Dop1a |
A |
T |
9: 86,413,772 (GRCm39) |
H1891L |
probably benign |
Het |
Fhad1 |
A |
C |
4: 141,660,113 (GRCm39) |
S65R |
probably benign |
Het |
Fn1 |
A |
G |
1: 71,652,996 (GRCm39) |
I1331T |
probably damaging |
Het |
Fto |
A |
T |
8: 92,136,359 (GRCm39) |
Y211F |
probably benign |
Het |
Gm3278 |
A |
C |
14: 16,080,370 (GRCm39) |
R60S |
probably benign |
Het |
Ifna9 |
A |
G |
4: 88,510,097 (GRCm39) |
S176P |
probably damaging |
Het |
Mcph1 |
G |
A |
8: 18,682,419 (GRCm39) |
G519R |
probably damaging |
Het |
Mcph1 |
G |
A |
8: 18,682,420 (GRCm39) |
G519E |
probably damaging |
Het |
N4bp1 |
A |
T |
8: 87,587,624 (GRCm39) |
V438E |
probably benign |
Het |
Ncapg |
T |
A |
5: 45,828,423 (GRCm39) |
V58E |
probably damaging |
Het |
Nid2 |
T |
A |
14: 19,858,047 (GRCm39) |
S1054T |
probably damaging |
Het |
Nlrp4a |
A |
T |
7: 26,153,492 (GRCm39) |
Y681F |
probably benign |
Het |
Or4f57 |
T |
C |
2: 111,791,352 (GRCm39) |
D22G |
probably benign |
Het |
Or4k15c |
A |
G |
14: 50,321,959 (GRCm39) |
Y60H |
probably damaging |
Het |
Or52e19b |
C |
A |
7: 103,032,770 (GRCm39) |
M146I |
probably benign |
Het |
Or5b94 |
G |
A |
19: 12,652,442 (GRCm39) |
R291K |
probably damaging |
Het |
Papln |
A |
T |
12: 83,822,236 (GRCm39) |
T364S |
probably benign |
Het |
Pcdh18 |
C |
A |
3: 49,710,371 (GRCm39) |
E315* |
probably null |
Het |
Pmel |
G |
A |
10: 128,553,701 (GRCm39) |
R445Q |
probably damaging |
Het |
Ppp1r12b |
C |
T |
1: 134,821,245 (GRCm39) |
V182I |
possibly damaging |
Het |
Ptprn2 |
A |
G |
12: 116,864,607 (GRCm39) |
T541A |
probably damaging |
Het |
Rbl1 |
A |
T |
2: 157,005,576 (GRCm39) |
N813K |
probably benign |
Het |
Sash1 |
C |
A |
10: 8,609,410 (GRCm39) |
R713L |
probably benign |
Het |
Slc13a1 |
T |
G |
6: 24,134,371 (GRCm39) |
T171P |
probably damaging |
Het |
Slc18b1 |
G |
T |
10: 23,701,899 (GRCm39) |
E407D |
probably damaging |
Het |
Slc2a6 |
G |
A |
2: 26,914,227 (GRCm39) |
Q297* |
probably null |
Het |
Vmn1r209 |
T |
C |
13: 22,989,832 (GRCm39) |
H286R |
probably damaging |
Het |
Vmn1r28 |
C |
A |
6: 58,242,522 (GRCm39) |
H122N |
probably benign |
Het |
Wfs1 |
A |
G |
5: 37,125,980 (GRCm39) |
Y304H |
probably benign |
Het |
Zfp512b |
A |
G |
2: 181,230,556 (GRCm39) |
S445P |
possibly damaging |
Het |
|
Other mutations in Klk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01571:Klk1
|
APN |
7 |
43,878,020 (GRCm39) |
missense |
probably damaging |
0.98 |
R0011:Klk1
|
UTSW |
7 |
43,878,959 (GRCm39) |
missense |
probably benign |
0.03 |
R0184:Klk1
|
UTSW |
7 |
43,878,173 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0853:Klk1
|
UTSW |
7 |
43,870,922 (GRCm39) |
unclassified |
probably benign |
|
R0925:Klk1
|
UTSW |
7 |
43,878,240 (GRCm39) |
critical splice donor site |
probably null |
|
R2044:Klk1
|
UTSW |
7 |
43,878,458 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2518:Klk1
|
UTSW |
7 |
43,870,161 (GRCm39) |
splice site |
probably null |
|
R2982:Klk1
|
UTSW |
7 |
43,878,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R3962:Klk1
|
UTSW |
7 |
43,878,973 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4041:Klk1
|
UTSW |
7 |
43,878,986 (GRCm39) |
missense |
probably damaging |
1.00 |
R4067:Klk1
|
UTSW |
7 |
43,876,968 (GRCm39) |
nonsense |
probably null |
|
R4385:Klk1
|
UTSW |
7 |
43,877,993 (GRCm39) |
missense |
probably benign |
0.12 |
R4901:Klk1
|
UTSW |
7 |
43,878,139 (GRCm39) |
missense |
probably damaging |
0.99 |
R5256:Klk1
|
UTSW |
7 |
43,870,985 (GRCm39) |
unclassified |
probably benign |
|
R5580:Klk1
|
UTSW |
7 |
43,878,238 (GRCm39) |
missense |
probably benign |
0.00 |
R5595:Klk1
|
UTSW |
7 |
43,878,161 (GRCm39) |
splice site |
probably null |
|
R6818:Klk1
|
UTSW |
7 |
43,878,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R7100:Klk1
|
UTSW |
7 |
43,878,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R8351:Klk1
|
UTSW |
7 |
43,878,410 (GRCm39) |
missense |
probably benign |
0.11 |
R8451:Klk1
|
UTSW |
7 |
43,878,410 (GRCm39) |
missense |
probably benign |
0.11 |
R8458:Klk1
|
UTSW |
7 |
43,874,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R8850:Klk1
|
UTSW |
7 |
43,877,056 (GRCm39) |
missense |
probably damaging |
0.99 |
R9081:Klk1
|
UTSW |
7 |
43,874,952 (GRCm39) |
unclassified |
probably benign |
|
R9786:Klk1
|
UTSW |
7 |
43,878,104 (GRCm39) |
missense |
probably damaging |
0.97 |
R9796:Klk1
|
UTSW |
7 |
43,877,965 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2014-02-04 |