Incidental Mutation 'R6803:Klk1b11'
| ID |
533439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b11
|
| Ensembl Gene |
ENSMUSG00000044485 |
| Gene Name |
kallikrein 1-related peptidase b11 |
| Synonyms |
mGK-11, Klk11 |
| MMRRC Submission |
044916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R6803 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43645301-43649299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43647261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 65
(H65R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007156]
|
| AlphaFold |
P15946 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007156
AA Change: H65R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007156
Gene: ENSMUSG00000044485
AA Change: H65R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
24 |
253 |
6.47e-101 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 94.7%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg9 |
A |
C |
9: 50,700,860 (GRCm39) |
D210A |
probably benign |
Het |
| As3mt |
T |
G |
19: 46,698,020 (GRCm39) |
M120R |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,988,340 (GRCm39) |
S270C |
probably null |
Het |
| Car5a |
A |
C |
8: 122,650,504 (GRCm39) |
|
probably null |
Het |
| Ccdc187 |
T |
A |
2: 26,179,791 (GRCm39) |
T223S |
probably benign |
Het |
| Cel |
T |
C |
2: 28,448,060 (GRCm39) |
N322S |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,802,279 (GRCm39) |
E2185G |
possibly damaging |
Het |
| Clcnkb |
T |
C |
4: 141,132,639 (GRCm39) |
T597A |
probably benign |
Het |
| Cntnap1 |
A |
G |
11: 101,068,060 (GRCm39) |
Y24C |
possibly damaging |
Het |
| Cog3 |
A |
G |
14: 75,941,479 (GRCm39) |
S817P |
probably benign |
Het |
| Col8a2 |
A |
G |
4: 126,205,793 (GRCm39) |
Y601C |
probably damaging |
Het |
| Cpm |
G |
T |
10: 117,512,002 (GRCm39) |
|
probably null |
Het |
| Cpt2 |
T |
C |
4: 107,769,861 (GRCm39) |
N79S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,016,198 (GRCm39) |
T314A |
probably benign |
Het |
| Dnm1 |
C |
A |
2: 32,202,766 (GRCm39) |
V46F |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,908,083 (GRCm39) |
V2640M |
probably damaging |
Het |
| Fbxl2 |
A |
T |
9: 113,813,617 (GRCm39) |
C296S |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,802,637 (GRCm39) |
T1522A |
probably benign |
Het |
| Foxl2 |
A |
C |
9: 98,837,985 (GRCm39) |
K91T |
probably damaging |
Het |
| Hdac11 |
G |
T |
6: 91,143,247 (GRCm39) |
R131L |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 106,993,766 (GRCm39) |
I723V |
probably benign |
Het |
| Klhl33 |
A |
G |
14: 51,134,192 (GRCm39) |
L150P |
probably damaging |
Het |
| Larp7 |
T |
C |
3: 127,330,685 (GRCm39) |
|
probably null |
Het |
| Ldlrad3 |
T |
C |
2: 101,943,892 (GRCm39) |
D60G |
possibly damaging |
Het |
| Mlip |
A |
T |
9: 77,097,663 (GRCm39) |
H177Q |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,730 (GRCm39) |
D298G |
probably benign |
Het |
| Npas2 |
A |
C |
1: 39,375,130 (GRCm39) |
S483R |
probably benign |
Het |
| Nrg3 |
C |
A |
14: 38,733,957 (GRCm39) |
E310* |
probably null |
Het |
| Omg |
T |
A |
11: 79,393,094 (GRCm39) |
T255S |
possibly damaging |
Het |
| Or2y12 |
T |
A |
11: 49,426,432 (GRCm39) |
L140H |
probably damaging |
Het |
| Or56b1b |
G |
T |
7: 108,164,620 (GRCm39) |
D127E |
probably damaging |
Het |
| Plekhg6 |
T |
C |
6: 125,340,626 (GRCm39) |
D578G |
probably damaging |
Het |
| Pygo1 |
A |
G |
9: 72,850,267 (GRCm39) |
K39E |
probably damaging |
Het |
| Rell2 |
A |
G |
18: 38,089,994 (GRCm39) |
D66G |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,375,446 (GRCm39) |
I605K |
probably damaging |
Het |
| Sema6d |
T |
C |
2: 124,505,970 (GRCm39) |
S593P |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,552,210 (GRCm39) |
V545A |
probably benign |
Het |
| Speer4f1 |
T |
A |
5: 17,684,388 (GRCm39) |
|
probably null |
Het |
| Spem1 |
T |
C |
11: 69,711,974 (GRCm39) |
E230G |
possibly damaging |
Het |
| Sphkap |
A |
G |
1: 83,258,231 (GRCm39) |
F171L |
probably damaging |
Het |
| Tbc1d13 |
T |
C |
2: 30,025,522 (GRCm39) |
|
probably benign |
Het |
| Tmem222 |
A |
T |
4: 132,994,154 (GRCm39) |
N206K |
probably benign |
Het |
| Trnau1ap |
C |
T |
4: 132,049,081 (GRCm39) |
V41M |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,769,387 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
T |
C |
2: 69,766,368 (GRCm39) |
|
probably null |
Het |
| Uox |
T |
G |
3: 146,318,264 (GRCm39) |
V55G |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,755,960 (GRCm39) |
I11F |
possibly damaging |
Het |
| Wasf2 |
T |
C |
4: 132,922,220 (GRCm39) |
|
probably null |
Het |
| Wdr97 |
A |
G |
15: 76,240,776 (GRCm39) |
Y488C |
probably damaging |
Het |
| Zbtb4 |
T |
C |
11: 69,669,454 (GRCm39) |
S726P |
possibly damaging |
Het |
| Zfp534 |
C |
T |
4: 147,758,926 (GRCm39) |
C581Y |
probably damaging |
Het |
| Zfp551 |
A |
T |
7: 12,151,108 (GRCm39) |
C100* |
probably null |
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 |
|
R5654:Klk1b11
|
UTSW |
7 |
43,427,810 (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 |
|
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'- TGCTTAACTGTGTCCATCAAGG -3'
(R):5'- ACAGGACTCTGAACAAAATCCTTGG -3'
Sequencing Primer
(F):5'- TAACTGTGTCCATCAAGGGTTGACC -3'
(R):5'- TCCTTGGAGGATGGAGTAAAGAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation