Incidental Mutation 'R1294:Klk1b3'
| ID |
158019 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b3
|
| Ensembl Gene |
ENSMUSG00000066515 |
| Gene Name |
kallikrein 1-related peptidase b3 |
| Synonyms |
Ngfg, mGk-3, Ngfg |
| MMRRC Submission |
039360-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43847615-43851775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 43849720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Tyrosine
at position 35
(S35Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085450]
|
| AlphaFold |
P00756 |
| PDB Structure |
CRYSTAL STRUCTURE OF 7S NGF: A COMPLEX OF NERVE GROWTH FACTOR WITH FOUR BINDING PROTEINS (SERINE PROTEINASES) [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085450
AA Change: S35Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082577
Gene: ENSMUSG00000066515
AA Change: S35Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
24 |
253 |
8.28e-99 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206937
|
| Meta Mutation Damage Score |
0.7510 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.4%
|
| Validation Efficiency |
97% (33/34) |
| MGI Phenotype |
FUNCTION: This gene encodes the gamma subunit of the 7S nerve growth factor (NGF) complex that is essential for the differentiation and survival of distinct populations of neurons in both the central and the peripheral nervous systems. The encoded protein is a glandular kallikrein-type serine protease that processes the beta subunit of NGF. This gene is present in a cluster of multiple related kallikrein-type protease genes on chromosome 7. [provided by RefSeq, Jul 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C2cd2 |
A |
G |
16: 97,723,469 (GRCm39) |
L16P |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
| Cnn2 |
A |
G |
10: 79,829,359 (GRCm39) |
D163G |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,748,052 (GRCm39) |
D233G |
probably damaging |
Het |
| Csta2 |
T |
A |
16: 36,077,618 (GRCm39) |
D58E |
probably damaging |
Het |
| Dhh |
T |
C |
15: 98,792,264 (GRCm39) |
Q248R |
probably benign |
Het |
| Elavl2 |
G |
A |
4: 91,199,826 (GRCm39) |
A19V |
probably benign |
Het |
| Fxr1 |
T |
A |
3: 34,101,201 (GRCm39) |
M169K |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,418,128 (GRCm39) |
|
probably null |
Het |
| Gm5334 |
T |
C |
7: 68,268,862 (GRCm39) |
S94P |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,832,714 (GRCm39) |
N1646S |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,655,863 (GRCm39) |
V156A |
probably benign |
Het |
| Pcbp3 |
A |
G |
10: 76,599,155 (GRCm39) |
I327T |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,592,015 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,889,886 (GRCm39) |
N35I |
probably damaging |
Het |
| Rab3c |
T |
C |
13: 110,397,099 (GRCm39) |
T56A |
possibly damaging |
Het |
| Rapsn |
A |
T |
2: 90,867,120 (GRCm39) |
K141* |
probably null |
Het |
| Rxrg |
G |
T |
1: 167,441,470 (GRCm39) |
A83S |
probably benign |
Het |
| Serpinc1 |
T |
C |
1: 160,817,211 (GRCm39) |
S102P |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,575 (GRCm39) |
N797D |
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,060,040 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
T |
9: 64,843,295 (GRCm39) |
V619E |
unknown |
Het |
| Slc25a20 |
A |
G |
9: 108,554,838 (GRCm39) |
M128V |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,796,906 (GRCm39) |
I286V |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,381,027 (GRCm39) |
F479Y |
probably damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,837,208 (GRCm39) |
|
probably null |
Het |
| Trim58 |
T |
A |
11: 58,533,953 (GRCm39) |
I169N |
probably benign |
Het |
| Vmn1r25 |
A |
G |
6: 57,955,464 (GRCm39) |
I275T |
possibly damaging |
Het |
| Zfp27 |
T |
A |
7: 29,595,737 (GRCm39) |
Y76F |
possibly damaging |
Het |
|
| Other mutations in Klk1b3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
delicato
|
UTSW |
7 |
43,849,828 (GRCm39) |
splice site |
probably null |
|
|
fragile
|
UTSW |
7 |
43,851,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4131:Klk1b3
|
UTSW |
7 |
43,851,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Klk1b3
|
UTSW |
7 |
43,850,689 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6086:Klk1b3
|
UTSW |
7 |
43,851,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6631:Klk1b3
|
UTSW |
7 |
43,850,888 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6845:Klk1b3
|
UTSW |
7 |
43,851,127 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7054:Klk1b3
|
UTSW |
7 |
43,850,863 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7215:Klk1b3
|
UTSW |
7 |
43,849,828 (GRCm39) |
splice site |
probably null |
|
|
R8816:Klk1b3
|
UTSW |
7 |
43,851,668 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8938:Klk1b3
|
UTSW |
7 |
43,849,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Klk1b3
|
UTSW |
7 |
43,849,729 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGCCATATACAAGTCCTTTGCC -3'
(R):5'- ACCCAGACAGATGTTGTCAGAGTCC -3'
Sequencing Primer
(F):5'- ATATCTGTGCCAAACCTCCC -3'
(R):5'- CGGGACTTGGTACACAAATCTG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation