Incidental Mutation 'R6321:Klk1b9'
| ID |
510342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b9
|
| Ensembl Gene |
ENSMUSG00000059042 |
| Gene Name |
kallikrein 1-related peptidase b9 |
| Synonyms |
Egfbp3, Klk9, Egfbp-3, mGk-9 |
| MMRRC Submission |
044418-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6321 (G1)
|
| Quality Score |
199.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43625485-43629800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43443732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 82
(E82G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005891]
[ENSMUST00000085461]
[ENSMUST00000205537]
|
| AlphaFold |
P15949 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005891
AA Change: E82G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005891
Gene: ENSMUSG00000047884
AA Change: E82G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
22 |
244 |
1.66e-89 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085461
|
| SMART Domains |
Protein: ENSMUSP00000082588
Gene: ENSMUSG00000064023
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
32 |
252 |
8.87e-99 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205527
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205537
|
| Meta Mutation Damage Score |
0.1682 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
T |
13: 111,391,915 (GRCm39) |
M83I |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,190 (GRCm39) |
M460K |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,799,189 (GRCm39) |
A31V |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,740,587 (GRCm39) |
|
probably benign |
Het |
| Arrdc4 |
C |
A |
7: 68,398,793 (GRCm39) |
D8Y |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,494,953 (GRCm39) |
Y110H |
probably damaging |
Het |
| Blnk |
A |
T |
19: 40,922,903 (GRCm39) |
Y405N |
probably damaging |
Het |
| Capsl |
T |
C |
15: 9,461,855 (GRCm39) |
F84L |
probably damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,858,735 (GRCm39) |
|
probably null |
Het |
| Cenpl |
T |
C |
1: 160,902,465 (GRCm39) |
S46P |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chrnd |
C |
T |
1: 87,119,951 (GRCm39) |
R90C |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,182,347 (GRCm39) |
M37K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,106,027 (GRCm39) |
E625G |
possibly damaging |
Het |
| Dnah5 |
T |
G |
15: 28,372,557 (GRCm39) |
V2936G |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,783,433 (GRCm39) |
M2055T |
probably damaging |
Het |
| Epb41l2 |
A |
T |
10: 25,344,026 (GRCm39) |
R274S |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,433,139 (GRCm39) |
H371L |
probably damaging |
Het |
| Evi5l |
C |
A |
8: 4,253,080 (GRCm39) |
P454T |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Golgb1 |
T |
A |
16: 36,738,559 (GRCm39) |
C2299* |
probably null |
Het |
| Heca |
G |
C |
10: 17,790,991 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
C |
T |
13: 14,697,414 (GRCm39) |
A9T |
probably benign |
Het |
| Hs3st6 |
T |
A |
17: 24,977,542 (GRCm39) |
W341R |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,107,533 (GRCm39) |
S1571L |
probably benign |
Het |
| Ltbp3 |
C |
A |
19: 5,795,685 (GRCm39) |
H180Q |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,034,741 (GRCm39) |
Y502H |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,843,165 (GRCm39) |
V372A |
probably benign |
Het |
| Mrgprd |
A |
G |
7: 144,875,879 (GRCm39) |
D250G |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,287,397 (GRCm39) |
D191G |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or4f59 |
A |
G |
2: 111,873,113 (GRCm39) |
V88A |
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,018,109 (GRCm39) |
Y192C |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,594,015 (GRCm39) |
V1342A |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,151 (GRCm39) |
E789G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,532,783 (GRCm39) |
T1471A |
probably benign |
Het |
| Scarb1 |
T |
A |
5: 125,381,395 (GRCm39) |
S50C |
probably damaging |
Het |
| Slc4a8 |
C |
T |
15: 100,687,045 (GRCm39) |
T283M |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,462,814 (GRCm39) |
D601E |
probably benign |
Het |
| Snx6 |
C |
A |
12: 54,798,798 (GRCm39) |
V221F |
probably damaging |
Het |
| Spag17 |
A |
C |
3: 99,995,743 (GRCm39) |
K1794T |
probably benign |
Het |
| Tpo |
A |
G |
12: 30,153,107 (GRCm39) |
W416R |
probably damaging |
Het |
| Ttc13 |
C |
A |
8: 125,409,930 (GRCm39) |
K427N |
probably damaging |
Het |
| Upf3a |
A |
T |
8: 13,837,466 (GRCm39) |
N137I |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,581,243 (GRCm39) |
Q3708* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,852,816 (GRCm39) |
F33L |
probably damaging |
Het |
| Zfp454 |
A |
G |
11: 50,763,876 (GRCm39) |
F408L |
probably damaging |
Het |
| Zfp639 |
T |
C |
3: 32,571,237 (GRCm39) |
Y40H |
probably damaging |
Het |
|
| Other mutations in Klk1b9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00934:Klk1b9
|
APN |
7 |
43,627,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Klk1b9
|
APN |
7 |
43,627,867 (GRCm39) |
nonsense |
probably null |
|
|
IGL01531:Klk1b9
|
APN |
7 |
43,441,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Klk1b9
|
APN |
7 |
43,445,063 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03329:Klk1b9
|
APN |
7 |
43,628,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0206:Klk1b9
|
UTSW |
7 |
43,628,854 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0208:Klk1b9
|
UTSW |
7 |
43,628,854 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0452:Klk1b9
|
UTSW |
7 |
43,443,675 (GRCm39) |
unclassified |
probably benign |
|
|
R0562:Klk1b9
|
UTSW |
7 |
43,445,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Klk1b9
|
UTSW |
7 |
43,628,796 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1171:Klk1b9
|
UTSW |
7 |
43,443,817 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1289:Klk1b9
|
UTSW |
7 |
43,627,848 (GRCm39) |
missense |
probably benign |
|
|
R1437:Klk1b9
|
UTSW |
7 |
43,629,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Klk1b9
|
UTSW |
7 |
43,628,979 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4385:Klk1b9
|
UTSW |
7 |
43,443,699 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5006:Klk1b9
|
UTSW |
7 |
43,628,711 (GRCm39) |
nonsense |
probably null |
|
|
R5011:Klk1b9
|
UTSW |
7 |
43,445,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Klk1b9
|
UTSW |
7 |
43,445,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Klk1b9
|
UTSW |
7 |
43,629,159 (GRCm39) |
missense |
probably benign |
|
|
R7149:Klk1b9
|
UTSW |
7 |
43,628,841 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7652:Klk1b9
|
UTSW |
7 |
43,445,514 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7726:Klk1b9
|
UTSW |
7 |
43,627,840 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7911:Klk1b9
|
UTSW |
7 |
43,629,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8769:Klk1b9
|
UTSW |
7 |
43,629,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8878:Klk1b9
|
UTSW |
7 |
43,443,782 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8914:Klk1b9
|
UTSW |
7 |
43,628,925 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9616:Klk1b9
|
UTSW |
7 |
43,628,795 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1088:Klk1b9
|
UTSW |
7 |
43,443,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCTATGTCACCAGTGGG -3'
(R):5'- TTGGAGCTTGACACACTGCC -3'
Sequencing Primer
(F):5'- AAGAAGGTGGCTGATTTGGG -3'
(R):5'- TGCCCCAGCCAGAGATAAGG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation