Incidental Mutation 'R4465:Klk12'
| ID |
330305 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk12
|
| Ensembl Gene |
ENSMUSG00000044430 |
| Gene Name |
kallikrein related-peptidase 12 |
| Synonyms |
KLK-L5, 2310008B01Rik |
| MMRRC Submission |
041580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4465 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
43418346-43423005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43422807 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 245
(R245W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103604
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014063]
[ENSMUST00000080211]
[ENSMUST00000107970]
[ENSMUST00000171458]
|
| AlphaFold |
B2RVZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014063
AA Change: R245W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000014063
Gene: ENSMUSG00000044430
AA Change: R245W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
21 |
240 |
1.3e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080211
|
| SMART Domains |
Protein: ENSMUSP00000079101
Gene: ENSMUSG00000067616
| 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 damaging
Transcript: ENSMUST00000107970
AA Change: R245W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103604
Gene: ENSMUSG00000044430
AA Change: R245W
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
21 |
240 |
1.3e-91 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171458
|
| SMART Domains |
Protein: ENSMUSP00000132721
Gene: ENSMUSG00000067616
| 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: ENSMUST00000205566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206165
|
| Meta Mutation Damage Score |
0.1509 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternate splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Acsbg2 |
A |
G |
17: 57,168,580 (GRCm39) |
Y180H |
probably damaging |
Het |
| Adgrb3 |
G |
T |
1: 25,133,447 (GRCm39) |
T1213K |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,802,388 (GRCm39) |
T510A |
probably benign |
Het |
| Clasp1 |
C |
A |
1: 118,488,808 (GRCm39) |
T857N |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,580,192 (GRCm39) |
V1562F |
possibly damaging |
Het |
| Cyp4f40 |
T |
A |
17: 32,890,186 (GRCm39) |
D285E |
probably benign |
Het |
| Dis3 |
G |
A |
14: 99,321,550 (GRCm39) |
S599L |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,186 (GRCm39) |
T3041A |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,981,393 (GRCm39) |
N511D |
probably benign |
Het |
| F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
| Gm11541 |
A |
T |
11: 94,595,048 (GRCm39) |
C7S |
unknown |
Het |
| Lao1 |
C |
A |
4: 118,822,504 (GRCm39) |
S141R |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,632,023 (GRCm39) |
K1316E |
probably damaging |
Het |
| Map3k6 |
A |
G |
4: 132,973,644 (GRCm39) |
Y445C |
possibly damaging |
Het |
| Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
| Ndnf |
T |
A |
6: 65,681,180 (GRCm39) |
D486E |
probably benign |
Het |
| Or2a54 |
T |
C |
6: 43,092,852 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or8h7 |
A |
T |
2: 86,721,494 (GRCm39) |
N8K |
probably benign |
Het |
| Or8k37 |
A |
T |
2: 86,469,478 (GRCm39) |
N191K |
probably benign |
Het |
| Rab19 |
T |
C |
6: 39,365,060 (GRCm39) |
S107P |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,140,088 (GRCm39) |
L439* |
probably null |
Het |
| Slc5a1 |
A |
G |
5: 33,303,860 (GRCm39) |
E225G |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
| Snx25 |
A |
G |
8: 46,521,266 (GRCm39) |
S373P |
possibly damaging |
Het |
| Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Homo |
| Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Zdhhc22 |
G |
A |
12: 87,034,997 (GRCm39) |
L152F |
probably benign |
Het |
| Zfpm2 |
T |
G |
15: 40,959,557 (GRCm39) |
M80R |
probably benign |
Het |
|
| Other mutations in Klk12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02508:Klk12
|
APN |
7 |
43,419,113 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4467:Klk12
|
UTSW |
7 |
43,422,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Klk12
|
UTSW |
7 |
43,422,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Klk12
|
UTSW |
7 |
43,422,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Klk12
|
UTSW |
7 |
43,422,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4578:Klk12
|
UTSW |
7 |
43,422,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5480:Klk12
|
UTSW |
7 |
43,420,482 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6834:Klk12
|
UTSW |
7 |
43,422,772 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7235:Klk12
|
UTSW |
7 |
43,422,723 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7468:Klk12
|
UTSW |
7 |
43,422,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Klk12
|
UTSW |
7 |
43,419,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Klk12
|
UTSW |
7 |
43,419,113 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8994:Klk12
|
UTSW |
7 |
43,421,485 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9037:Klk12
|
UTSW |
7 |
43,419,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Klk12
|
UTSW |
7 |
43,420,342 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCATGTTCTCCCGGTG -3'
(R):5'- AGTTGTACAGCTGCCTCTCC -3'
Sequencing Primer
(F):5'- GCTTGGAGCCACTTTCTTTAAG -3'
(R):5'- CGCTGCCATGGGTGTAGTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation