Incidental Mutation 'R5654:Klk1b11'
| ID |
442172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b11
|
| Ensembl Gene |
ENSMUSG00000044485 |
| Gene Name |
kallikrein 1-related peptidase b11 |
| Synonyms |
mGK-11, Klk11 |
| MMRRC Submission |
043300-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5654 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43645301-43649299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43427810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 173
(C173S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014058]
[ENSMUST00000014063]
[ENSMUST00000080211]
[ENSMUST00000107970]
[ENSMUST00000171458]
|
| AlphaFold |
P15946 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014058
|
| SMART Domains |
Protein: ENSMUSP00000014058
Gene: ENSMUSG00000030693
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
46 |
271 |
1.35e-71 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014063
|
| SMART Domains |
Protein: ENSMUSP00000014063
Gene: ENSMUSG00000044430
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
21 |
240 |
1.3e-91 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080211
AA Change: C200S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079101
Gene: ENSMUSG00000067616
AA Change: C200S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
37 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
47 |
269 |
5.14e-95 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107970
|
| SMART Domains |
Protein: ENSMUSP00000103604
Gene: ENSMUSG00000044430
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
21 |
240 |
1.3e-91 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171458
AA Change: C173S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132721
Gene: ENSMUSG00000067616
AA Change: C173S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
20 |
242 |
5.14e-95 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205415
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206165
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205566
|
| Meta Mutation Damage Score |
0.9548 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
96% (69/72) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
T |
C |
1: 75,151,479 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
G |
A |
6: 142,571,371 (GRCm39) |
|
probably benign |
Het |
| Acss2 |
T |
C |
2: 155,416,575 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
G |
A |
2: 126,217,725 (GRCm39) |
T597I |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,961,015 (GRCm39) |
N796I |
probably benign |
Het |
| Caskin2 |
T |
C |
11: 115,690,905 (GRCm39) |
|
probably null |
Het |
| Cdhr2 |
A |
G |
13: 54,884,349 (GRCm39) |
N1295D |
probably benign |
Het |
| Cog3 |
G |
A |
14: 75,962,239 (GRCm39) |
T534M |
probably benign |
Het |
| Cpne1 |
A |
G |
2: 155,919,561 (GRCm39) |
S303P |
probably damaging |
Het |
| Cs |
G |
A |
10: 128,187,086 (GRCm39) |
G74S |
possibly damaging |
Het |
| Cyb5r4 |
G |
T |
9: 86,929,533 (GRCm39) |
S229I |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 35,997,400 (GRCm39) |
A531T |
probably benign |
Het |
| Ect2l |
C |
T |
10: 18,018,810 (GRCm39) |
V529M |
probably damaging |
Het |
| Edaradd |
C |
A |
13: 12,493,161 (GRCm39) |
R177L |
possibly damaging |
Het |
| Esf1 |
T |
C |
2: 140,006,148 (GRCm39) |
D333G |
possibly damaging |
Het |
| Fam8a1 |
T |
A |
13: 46,827,814 (GRCm39) |
L334H |
probably damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,871,558 (GRCm39) |
I559T |
probably damaging |
Het |
| Fcrl2 |
A |
C |
3: 87,164,851 (GRCm39) |
V225G |
probably benign |
Het |
| Ido1 |
C |
T |
8: 25,077,819 (GRCm39) |
V83M |
probably damaging |
Het |
| Iffo1 |
T |
G |
6: 125,130,030 (GRCm39) |
C419G |
probably damaging |
Het |
| Igfals |
A |
T |
17: 25,100,439 (GRCm39) |
Y510F |
probably benign |
Het |
| Ipo9 |
A |
T |
1: 135,313,210 (GRCm39) |
Y1006* |
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,065,785 (GRCm39) |
S1737T |
probably benign |
Het |
| Klhl32 |
C |
T |
4: 24,800,805 (GRCm39) |
|
probably null |
Het |
| Klk1b24 |
A |
T |
7: 43,840,889 (GRCm39) |
M106L |
probably benign |
Het |
| Lamp1 |
G |
A |
8: 13,221,388 (GRCm39) |
|
probably null |
Het |
| Mapk4 |
A |
T |
18: 74,103,365 (GRCm39) |
V48E |
probably damaging |
Het |
| Marchf6 |
A |
T |
15: 31,486,082 (GRCm39) |
D395E |
probably damaging |
Het |
| Mdp1 |
A |
G |
14: 55,896,465 (GRCm39) |
F157S |
probably damaging |
Het |
| Mettl21e |
A |
T |
1: 44,250,255 (GRCm39) |
F50L |
probably damaging |
Het |
| Mrgpra2a |
A |
G |
7: 47,077,153 (GRCm39) |
I35T |
probably benign |
Het |
| Natd1 |
T |
C |
11: 60,796,892 (GRCm39) |
Y91C |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,633,476 (GRCm39) |
Y2294N |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,610,841 (GRCm39) |
T520A |
probably benign |
Het |
| Nrf1 |
A |
G |
6: 30,117,061 (GRCm39) |
T324A |
probably benign |
Het |
| Or10a2 |
G |
A |
7: 106,673,394 (GRCm39) |
A120T |
probably damaging |
Het |
| Or4k51 |
T |
A |
2: 111,585,326 (GRCm39) |
I244N |
probably damaging |
Het |
| Or52a5 |
A |
C |
7: 103,427,182 (GRCm39) |
D123E |
probably damaging |
Het |
| Or5m11b |
A |
G |
2: 85,806,500 (GRCm39) |
I304M |
probably benign |
Het |
| Pam |
C |
T |
1: 97,792,123 (GRCm39) |
V433I |
probably benign |
Het |
| Pck1 |
T |
A |
2: 173,000,353 (GRCm39) |
Y595N |
probably damaging |
Het |
| Per2 |
C |
T |
1: 91,373,223 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
G |
C |
18: 63,278,162 (GRCm39) |
F247L |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,523,337 (GRCm39) |
Y148C |
probably damaging |
Het |
| Plod2 |
A |
G |
9: 92,475,876 (GRCm39) |
T320A |
probably benign |
Het |
| Ppip5k1 |
G |
A |
2: 121,147,157 (GRCm39) |
R1155C |
probably benign |
Het |
| Ppp1r15b |
C |
T |
1: 133,059,382 (GRCm39) |
|
probably benign |
Het |
| Prkn |
C |
T |
17: 11,456,536 (GRCm39) |
A119V |
probably damaging |
Het |
| Ptprz1 |
G |
T |
6: 22,986,133 (GRCm39) |
C311F |
probably damaging |
Het |
| Rab11fip3 |
A |
T |
17: 26,235,038 (GRCm39) |
V44E |
probably damaging |
Het |
| Rpl5 |
T |
A |
5: 108,051,514 (GRCm39) |
|
probably benign |
Het |
| Rttn |
G |
A |
18: 89,066,556 (GRCm39) |
V1201I |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 141,921,853 (GRCm39) |
N283S |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,405,529 (GRCm39) |
N418K |
probably benign |
Het |
| Shmt2 |
T |
C |
10: 127,353,668 (GRCm39) |
D499G |
probably benign |
Het |
| Slc25a46 |
A |
G |
18: 31,716,293 (GRCm39) |
L403S |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,303,955 (GRCm39) |
T257A |
probably benign |
Het |
| Snrnp35 |
T |
C |
5: 124,628,535 (GRCm39) |
V116A |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,981,538 (GRCm39) |
F593I |
probably damaging |
Het |
| Tmem171 |
C |
A |
13: 98,828,574 (GRCm39) |
R192L |
probably benign |
Het |
| Trappc3l |
T |
A |
10: 33,978,703 (GRCm39) |
L169Q |
unknown |
Het |
| Ube2s |
T |
C |
7: 4,811,431 (GRCm39) |
E148G |
probably damaging |
Het |
| Uspl1 |
T |
C |
5: 149,146,521 (GRCm39) |
F424S |
probably damaging |
Het |
| Vmn1r2 |
T |
C |
4: 3,172,261 (GRCm39) |
V60A |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,829,575 (GRCm39) |
|
probably null |
Het |
| Zfp735 |
C |
T |
11: 73,602,964 (GRCm39) |
S636L |
possibly damaging |
Het |
| Zswim9 |
G |
A |
7: 12,995,094 (GRCm39) |
S354F |
probably damaging |
Het |
|
| Other mutations in Klk1b11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Klk1b11
|
APN |
7 |
43,649,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01501:Klk1b11
|
APN |
7 |
43,649,258 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02054:Klk1b11
|
APN |
7 |
43,648,251 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02267:Klk1b11
|
APN |
7 |
43,649,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02900:Klk1b11
|
APN |
7 |
43,427,837 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03090:Klk1b11
|
APN |
7 |
43,426,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
aceto
|
UTSW |
7 |
43,424,198 (GRCm39) |
missense |
probably benign |
0.18 |
|
sotto
|
UTSW |
7 |
43,428,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0125:Klk1b11
|
UTSW |
7 |
43,648,475 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0326:Klk1b11
|
UTSW |
7 |
43,425,943 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R0449:Klk1b11
|
UTSW |
7 |
43,647,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0708:Klk1b11
|
UTSW |
7 |
43,647,152 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1370:Klk1b11
|
UTSW |
7 |
43,426,331 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1503:Klk1b11
|
UTSW |
7 |
43,428,333 (GRCm39) |
nonsense |
probably null |
|
|
R1812:Klk1b11
|
UTSW |
7 |
43,427,179 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3003:Klk1b11
|
UTSW |
7 |
43,426,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4361:Klk1b11
|
UTSW |
7 |
43,645,378 (GRCm39) |
splice site |
probably null |
|
|
R4452:Klk1b11
|
UTSW |
7 |
43,645,335 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4974:Klk1b11
|
UTSW |
7 |
43,427,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5120:Klk1b11
|
UTSW |
7 |
43,648,446 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5214:Klk1b11
|
UTSW |
7 |
43,647,266 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5219:Klk1b11
|
UTSW |
7 |
43,649,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5730:Klk1b11
|
UTSW |
7 |
43,424,199 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6348:Klk1b11
|
UTSW |
7 |
43,647,275 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6602:Klk1b11
|
UTSW |
7 |
43,424,198 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6803:Klk1b11
|
UTSW |
7 |
43,647,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Klk1b11
|
UTSW |
7 |
43,428,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7065:Klk1b11
|
UTSW |
7 |
43,648,386 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7172:Klk1b11
|
UTSW |
7 |
43,648,671 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7310:Klk1b11
|
UTSW |
7 |
43,428,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7741:Klk1b11
|
UTSW |
7 |
43,426,421 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8185:Klk1b11
|
UTSW |
7 |
43,426,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8336:Klk1b11
|
UTSW |
7 |
43,425,865 (GRCm39) |
start gained |
probably benign |
|
|
R8389:Klk1b11
|
UTSW |
7 |
43,649,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8798:Klk1b11
|
UTSW |
7 |
43,645,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9090:Klk1b11
|
UTSW |
7 |
43,425,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9104:Klk1b11
|
UTSW |
7 |
43,427,875 (GRCm39) |
unclassified |
probably benign |
|
|
R9144:Klk1b11
|
UTSW |
7 |
43,427,055 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9213:Klk1b11
|
UTSW |
7 |
43,648,428 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9271:Klk1b11
|
UTSW |
7 |
43,425,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9604:Klk1b11
|
UTSW |
7 |
43,427,850 (GRCm39) |
missense |
|
|
|
Z1177:Klk1b11
|
UTSW |
7 |
43,427,759 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTCAATGCATTGCTGTTGC -3'
(R):5'- CCAGAGGTTCTTCATGGGTG -3'
Sequencing Primer
(F):5'- TGTTGCAACAGTTACAAGCATAGAG -3'
(R):5'- AGGTTCTTCATGGGTGGCAGAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation