Incidental Mutation 'R3962:Klk1'
| ID |
312127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1
|
| Ensembl Gene |
ENSMUSG00000063903 |
| Gene Name |
kallikrein 1 |
| Synonyms |
Klk6, mGk-6, 0610007D04Rik |
| MMRRC Submission |
040837-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R3962 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43874784-43879042 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43878973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 256
(T256A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000075162
AA Change: T256A
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000074659
Gene: ENSMUSG00000063903
AA Change: T256A
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206366
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206686
|
| Meta Mutation Damage Score |
0.2249 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
96% (48/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Abca12 |
A |
T |
1: 71,313,674 (GRCm39) |
|
probably null |
Het |
| Ablim2 |
C |
T |
5: 35,969,519 (GRCm39) |
R211C |
probably damaging |
Het |
| Actn4 |
C |
A |
7: 28,597,647 (GRCm39) |
|
probably null |
Het |
| B3gnt5 |
A |
G |
16: 19,587,798 (GRCm39) |
S6G |
probably benign |
Het |
| Bod1l |
T |
G |
5: 41,966,064 (GRCm39) |
E2667A |
probably benign |
Het |
| Ccdc13 |
G |
A |
9: 121,628,005 (GRCm39) |
|
probably benign |
Het |
| Ccdc15 |
G |
T |
9: 37,231,782 (GRCm39) |
R181S |
probably damaging |
Het |
| Ccnd1 |
G |
A |
7: 144,487,787 (GRCm39) |
T230M |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,011,446 (GRCm39) |
T344A |
possibly damaging |
Het |
| Fam161a |
T |
C |
11: 22,973,507 (GRCm39) |
M275T |
possibly damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,977,372 (GRCm39) |
T95A |
probably benign |
Het |
| Fndc5 |
T |
C |
4: 129,033,688 (GRCm39) |
V152A |
probably benign |
Het |
| Galk2 |
A |
T |
2: 125,735,293 (GRCm39) |
N107I |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,708,911 (GRCm39) |
|
probably benign |
Het |
| Gm5082 |
T |
C |
13: 41,809,894 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
C |
T |
1: 16,838,868 (GRCm39) |
|
noncoding transcript |
Het |
| Haus6 |
C |
T |
4: 86,530,041 (GRCm39) |
A4T |
possibly damaging |
Het |
| Hmgcs2 |
G |
A |
3: 98,198,354 (GRCm39) |
V86M |
possibly damaging |
Het |
| Hrg |
G |
A |
16: 22,774,825 (GRCm39) |
V152I |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 114,976,054 (GRCm39) |
V1106E |
probably damaging |
Het |
| Itga9 |
G |
A |
9: 118,457,254 (GRCm39) |
D122N |
possibly damaging |
Het |
| Kif21a |
T |
A |
15: 90,869,612 (GRCm39) |
E413V |
probably damaging |
Het |
| L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
| Larp4 |
C |
A |
15: 99,910,026 (GRCm39) |
Q652K |
probably damaging |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Minar1 |
G |
A |
9: 89,483,963 (GRCm39) |
T478I |
probably damaging |
Het |
| Moxd2 |
T |
A |
6: 40,862,331 (GRCm39) |
M163L |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,370,654 (GRCm39) |
R1138H |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,035,808 (GRCm39) |
D28G |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,104,535 (GRCm39) |
I219N |
probably damaging |
Het |
| Platr26 |
A |
T |
2: 71,549,849 (GRCm39) |
|
noncoding transcript |
Het |
| Ptdss1 |
A |
G |
13: 67,142,075 (GRCm39) |
H411R |
probably benign |
Het |
| Ptpra |
A |
G |
2: 30,325,672 (GRCm39) |
T147A |
probably damaging |
Het |
| Rfx2 |
T |
C |
17: 57,092,302 (GRCm39) |
Y307C |
probably damaging |
Het |
| Rtn3 |
T |
C |
19: 7,435,510 (GRCm39) |
S142G |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,108,302 (GRCm39) |
V525A |
probably damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,533,398 (GRCm39) |
S1007G |
probably damaging |
Het |
| Spmip5 |
A |
G |
19: 58,777,541 (GRCm39) |
Y82H |
probably damaging |
Het |
| Srsf3 |
C |
T |
17: 29,255,430 (GRCm39) |
|
probably benign |
Het |
| Taar8a |
A |
G |
10: 23,953,054 (GRCm39) |
I219M |
probably damaging |
Het |
| Tars2 |
A |
G |
3: 95,662,068 (GRCm39) |
|
probably null |
Het |
| Tfap2d |
A |
G |
1: 19,189,189 (GRCm39) |
N245S |
probably damaging |
Het |
| Tlr6 |
T |
A |
5: 65,112,328 (GRCm39) |
H193L |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,164,352 (GRCm39) |
V78A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,840,140 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
A |
G |
9: 43,986,954 (GRCm39) |
D84G |
possibly damaging |
Het |
| V1ra8 |
A |
G |
6: 90,180,466 (GRCm39) |
N223S |
probably benign |
Het |
| Wnk2 |
C |
A |
13: 49,224,453 (GRCm39) |
R1122L |
probably 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 |
|
IGL01788:Klk1
|
APN |
7 |
43,878,407 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTTCTGCCCTGGGAGTCAG -3'
(R):5'- GCCAACTGTACATGTACTCCTG -3'
Sequencing Primer
(F):5'- GTTGTCTACTAGAATCCAACTGCCAG -3'
(R):5'- GTCCCTTGCTATTCTACTTTGGAAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation