Incidental Mutation 'R1117:Klk1b22'
| ID |
97414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk1b22
|
| Ensembl Gene |
ENSMUSG00000060177 |
| Gene Name |
kallikrein 1-related peptidase b22 |
| Synonyms |
Klk22, Egfbp1, Egfbp-1, mGk-22 |
| MMRRC Submission |
039190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R1117 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43762097-43766346 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43766283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 255
(M255L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077528]
|
| AlphaFold |
P15948 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077528
AA Change: M255L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000076733
Gene: ENSMUSG00000060177
AA Change: M255L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
24 |
251 |
2.91e-94 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206702
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the beta 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 preproprotein undergoes proteolytic processing to generate a functional, mature peptide. 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
G |
A |
10: 83,344,487 (GRCm39) |
T353I |
probably benign |
Het |
| Arpc1b |
T |
C |
5: 145,062,564 (GRCm39) |
V226A |
possibly damaging |
Het |
| Casz1 |
C |
A |
4: 149,019,052 (GRCm39) |
T451K |
probably damaging |
Het |
| Ccr4 |
C |
T |
9: 114,321,085 (GRCm39) |
V327M |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,985 (GRCm39) |
E465G |
probably damaging |
Het |
| Cpa1 |
A |
G |
6: 30,645,260 (GRCm39) |
D412G |
probably benign |
Het |
| Crispld1 |
T |
A |
1: 17,819,846 (GRCm39) |
N281K |
probably benign |
Het |
| Cul3 |
T |
C |
1: 80,258,641 (GRCm39) |
Q465R |
probably damaging |
Het |
| Cyp2c68 |
G |
A |
19: 39,700,903 (GRCm39) |
T305M |
probably damaging |
Het |
| Elp4 |
T |
C |
2: 105,672,656 (GRCm39) |
D143G |
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,428,212 (GRCm39) |
I462M |
probably benign |
Het |
| Fmo4 |
A |
G |
1: 162,631,232 (GRCm39) |
V245A |
probably benign |
Het |
| Gm4076 |
A |
G |
13: 85,275,437 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Kcnj15 |
G |
A |
16: 95,096,484 (GRCm39) |
M8I |
probably benign |
Het |
| Mmrn1 |
T |
A |
6: 60,953,309 (GRCm39) |
I530K |
possibly damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,920 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
A |
C |
14: 19,813,732 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
T |
C |
9: 39,934,058 (GRCm39) |
F123S |
probably damaging |
Het |
| Or10h28 |
C |
T |
17: 33,487,940 (GRCm39) |
R81* |
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,641 (GRCm39) |
K234E |
possibly damaging |
Het |
| Peak1 |
G |
A |
9: 56,165,702 (GRCm39) |
T742M |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,329,949 (GRCm39) |
T469S |
probably benign |
Het |
| Sez6 |
A |
G |
11: 77,865,340 (GRCm39) |
Y659C |
probably damaging |
Het |
| Slc19a2 |
A |
T |
1: 164,091,025 (GRCm39) |
I278F |
possibly damaging |
Het |
| Slc36a3 |
T |
C |
11: 55,037,006 (GRCm39) |
I100V |
possibly damaging |
Het |
| Tcerg1 |
A |
G |
18: 42,707,717 (GRCm39) |
D1079G |
probably damaging |
Het |
| Trim43c |
T |
C |
9: 88,727,030 (GRCm39) |
S286P |
probably benign |
Het |
| Umod |
T |
C |
7: 119,076,529 (GRCm39) |
N79S |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,923,382 (GRCm39) |
T43A |
probably benign |
Het |
|
| Other mutations in Klk1b22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01516:Klk1b22
|
APN |
7 |
43,765,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02189:Klk1b22
|
APN |
7 |
43,765,630 (GRCm39) |
splice site |
probably null |
|
|
R1480:Klk1b22
|
UTSW |
7 |
43,766,278 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1581:Klk1b22
|
UTSW |
7 |
43,765,399 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1793:Klk1b22
|
UTSW |
7 |
43,765,775 (GRCm39) |
splice site |
probably benign |
|
|
R2935:Klk1b22
|
UTSW |
7 |
43,764,146 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5806:Klk1b22
|
UTSW |
7 |
43,765,301 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7278:Klk1b22
|
UTSW |
7 |
43,764,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7443:Klk1b22
|
UTSW |
7 |
43,765,534 (GRCm39) |
missense |
probably benign |
|
|
R7646:Klk1b22
|
UTSW |
7 |
43,765,542 (GRCm39) |
splice site |
probably null |
|
|
R7866:Klk1b22
|
UTSW |
7 |
43,762,168 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8499:Klk1b22
|
UTSW |
7 |
43,762,144 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8829:Klk1b22
|
UTSW |
7 |
43,764,277 (GRCm39) |
missense |
probably benign |
|
|
R8832:Klk1b22
|
UTSW |
7 |
43,764,277 (GRCm39) |
missense |
probably benign |
|
|
R9113:Klk1b22
|
UTSW |
7 |
43,765,692 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9756:Klk1b22
|
UTSW |
7 |
43,765,254 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCACCTATTGAACAGAGCTGCC -3'
(R):5'- GTCAGCCCTACTTGGAGTCAATCAC -3'
Sequencing Primer
(F):5'- TGTATACTAGAATCCAACTGCCAGG -3'
(R):5'- ACACATATGGCATCCCTGAGTTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation