Incidental Mutation 'R4240:Klk6'
| ID |
320163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk6
|
| Ensembl Gene |
ENSMUSG00000050063 |
| Gene Name |
kallikrein related-peptidase 6 |
| Synonyms |
protease M, Prss18, neurosin, Klk29, Prss9, Bssp |
| MMRRC Submission |
041057-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4240 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43473967-43481219 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43478597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 168
(H168R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103602
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107966]
[ENSMUST00000107967]
[ENSMUST00000107968]
[ENSMUST00000177514]
|
| AlphaFold |
Q91Y82 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107966
AA Change: H168R
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103600
Gene: ENSMUSG00000050063
AA Change: H168R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
28 |
244 |
3.1e-89 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107967
AA Change: H168R
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103601
Gene: ENSMUSG00000050063
AA Change: H168R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
28 |
244 |
3.1e-89 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107968
AA Change: H168R
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103602
Gene: ENSMUSG00000050063
AA Change: H168R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
28 |
244 |
3.1e-89 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177514
|
| SMART Domains |
Protein: ENSMUSP00000135591
Gene: ENSMUSG00000050063
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
28 |
129 |
5.07e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.0735 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
93% (50/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The encoded preproprotein is proteolytically processed to generate the mature protease. Expression of this protease is regulated by steroid hormones and may be elevated in multiple human cancers and in serum from psoriasis patients. The encoded protease may participate in the cleavage of amyloid precursor protein and alpha-synuclein, thus implicating this protease in Alzheimer's and Parkinson's disease, respectively. This gene is located in a gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased mature oligodendrocytes in the developing spinal cord. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
C |
T |
13: 119,603,478 (GRCm39) |
P93S |
probably benign |
Het |
| 4930488N24Rik |
A |
T |
17: 14,326,049 (GRCm39) |
|
noncoding transcript |
Het |
| Areg |
A |
T |
5: 91,291,375 (GRCm39) |
N106I |
probably damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,893,949 (GRCm39) |
E487K |
possibly damaging |
Het |
| Cfap46 |
G |
T |
7: 139,246,203 (GRCm39) |
Q387K |
possibly damaging |
Het |
| Cfap74 |
C |
A |
4: 155,547,529 (GRCm39) |
H1238Q |
probably benign |
Het |
| Cnot6l |
T |
C |
5: 96,225,221 (GRCm39) |
T491A |
probably benign |
Het |
| Cog7 |
C |
T |
7: 121,524,707 (GRCm39) |
V696M |
possibly damaging |
Het |
| Col22a1 |
C |
T |
15: 71,878,980 (GRCm39) |
G59D |
probably damaging |
Het |
| Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
| Eno1b |
T |
A |
18: 48,180,907 (GRCm39) |
S362T |
probably benign |
Het |
| Erbb2 |
A |
G |
11: 98,318,869 (GRCm39) |
K549R |
probably benign |
Het |
| Fam170a |
A |
T |
18: 50,414,734 (GRCm39) |
M127L |
possibly damaging |
Het |
| Gm1979 |
T |
C |
5: 26,206,119 (GRCm39) |
T154A |
probably benign |
Het |
| Gm6871 |
G |
T |
7: 41,195,204 (GRCm39) |
T511K |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 106,001,513 (GRCm39) |
T378A |
possibly damaging |
Het |
| Irf2bpl |
C |
A |
12: 86,929,691 (GRCm39) |
Q327H |
possibly damaging |
Het |
| Kmt2d |
G |
A |
15: 98,742,452 (GRCm39) |
|
probably benign |
Het |
| Kplce |
T |
C |
3: 92,775,898 (GRCm39) |
I262V |
possibly damaging |
Het |
| Lad1 |
T |
A |
1: 135,755,033 (GRCm39) |
V103D |
possibly damaging |
Het |
| Mcm4 |
A |
T |
16: 15,445,570 (GRCm39) |
Y692* |
probably null |
Het |
| Med15 |
C |
T |
16: 17,473,358 (GRCm39) |
R497H |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,014,163 (GRCm39) |
V177A |
possibly damaging |
Het |
| Mr1 |
T |
C |
1: 155,012,413 (GRCm39) |
E167G |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,951,053 (GRCm39) |
|
probably null |
Het |
| Myom2 |
A |
G |
8: 15,182,895 (GRCm39) |
D1444G |
probably benign |
Het |
| Nes |
C |
A |
3: 87,886,666 (GRCm39) |
P1598T |
probably damaging |
Het |
| Nlrp4d |
A |
T |
7: 10,115,243 (GRCm39) |
H479Q |
noncoding transcript |
Het |
| Nphp4 |
A |
G |
4: 152,640,141 (GRCm39) |
D1009G |
probably benign |
Het |
| Or13a25 |
A |
G |
7: 140,247,496 (GRCm39) |
N99D |
probably benign |
Het |
| Pate10 |
T |
A |
9: 35,653,449 (GRCm39) |
Y84* |
probably null |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,721,671 (GRCm39) |
I202V |
probably benign |
Het |
| Rsf1 |
C |
CGGCGGCGGT |
7: 97,229,142 (GRCm39) |
|
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,895,983 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,950 (GRCm39) |
K290E |
probably damaging |
Het |
| Tbc1d17 |
T |
C |
7: 44,496,250 (GRCm39) |
Y84C |
probably damaging |
Het |
| Usp46 |
T |
G |
5: 74,192,928 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
T |
G |
5: 109,364,277 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
A |
T |
5: 108,945,369 (GRCm39) |
V746D |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,202,790 (GRCm39) |
V1120A |
possibly damaging |
Het |
| Zbtb38 |
CTCTTCTTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTCTTCTTC |
9: 96,568,155 (GRCm39) |
|
probably benign |
Het |
| Zfp791 |
T |
C |
8: 85,836,295 (GRCm39) |
H523R |
probably null |
Het |
| Zfp870 |
A |
G |
17: 33,104,710 (GRCm39) |
I53T |
probably benign |
Het |
|
| Other mutations in Klk6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02691:Klk6
|
APN |
7 |
43,477,924 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0382:Klk6
|
UTSW |
7 |
43,478,669 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0453:Klk6
|
UTSW |
7 |
43,477,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Klk6
|
UTSW |
7 |
43,481,058 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1521:Klk6
|
UTSW |
7 |
43,478,699 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1772:Klk6
|
UTSW |
7 |
43,478,695 (GRCm39) |
nonsense |
probably null |
|
|
R1902:Klk6
|
UTSW |
7 |
43,475,481 (GRCm39) |
start codon destroyed |
probably benign |
0.03 |
|
R4238:Klk6
|
UTSW |
7 |
43,478,597 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4239:Klk6
|
UTSW |
7 |
43,478,597 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5182:Klk6
|
UTSW |
7 |
43,478,084 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5274:Klk6
|
UTSW |
7 |
43,478,553 (GRCm39) |
splice site |
probably null |
|
|
R6776:Klk6
|
UTSW |
7 |
43,476,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7411:Klk6
|
UTSW |
7 |
43,476,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Klk6
|
UTSW |
7 |
43,478,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8035:Klk6
|
UTSW |
7 |
43,478,086 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8828:Klk6
|
UTSW |
7 |
43,478,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8828:Klk6
|
UTSW |
7 |
43,478,061 (GRCm39) |
missense |
|
|
|
R8990:Klk6
|
UTSW |
7 |
43,476,254 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9316:Klk6
|
UTSW |
7 |
43,477,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9570:Klk6
|
UTSW |
7 |
43,477,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Klk6
|
UTSW |
7 |
43,477,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATTTGGGAGACAGTGAC -3'
(R):5'- CACGTGTGAGGTGGATTCTC -3'
Sequencing Primer
(F):5'- CAGTGACAAGGAAAGCGATCC -3'
(R):5'- AGTGTCCTCTCAGGCTGAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation