Incidental Mutation 'IGL01452:Klk13'
ID |
84671 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Klk13
|
Ensembl Gene |
ENSMUSG00000054046 |
Gene Name |
kallikrein related-peptidase 13 |
Synonyms |
mGk-13 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.056)
|
Stock # |
IGL01452
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
43361991-43376958 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 43376060 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 245
(R245L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066834]
[ENSMUST00000205457]
|
AlphaFold |
Q8CGR6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066834
AA Change: R245L
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000065308 Gene: ENSMUSG00000054046 AA Change: R245L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Tryp_SPc
|
36 |
259 |
4.47e-95 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181454
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205457
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: Kallikreins are serine proteases encoded by a cluster of highly related genes on chromosome 7. When genomic sequence became available, it was possible to clarify the gene-to-sequence relationship for this family. Until January, 2006, NM_010115 was called kallikrein 13. After that time, NM_001039042 was called Klk13 and NM_010115 was called Klk1b26. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bltp1 |
T |
A |
3: 37,050,457 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
A |
G |
14: 55,733,515 (GRCm39) |
N344D |
probably damaging |
Het |
Cd300ld2 |
G |
A |
11: 114,903,428 (GRCm39) |
|
probably benign |
Het |
Ddx19b |
A |
G |
8: 111,747,620 (GRCm39) |
S105P |
probably damaging |
Het |
Dpf3 |
C |
A |
12: 83,316,263 (GRCm39) |
R336L |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,836,181 (GRCm39) |
S720P |
probably damaging |
Het |
Foxj3 |
T |
C |
4: 119,478,825 (GRCm39) |
L427P |
unknown |
Het |
Hdac11 |
A |
G |
6: 91,144,843 (GRCm39) |
D157G |
probably damaging |
Het |
Med25 |
C |
T |
7: 44,532,255 (GRCm39) |
M367I |
possibly damaging |
Het |
Mindy3 |
G |
A |
2: 12,360,083 (GRCm39) |
|
probably benign |
Het |
Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,371,292 (GRCm39) |
L3269F |
probably benign |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Pcnx2 |
A |
G |
8: 126,564,771 (GRCm39) |
S1041P |
probably damaging |
Het |
Pcnx4 |
G |
T |
12: 72,621,174 (GRCm39) |
G998V |
possibly damaging |
Het |
Ptprk |
G |
A |
10: 28,450,913 (GRCm39) |
|
probably null |
Het |
Scn9a |
A |
G |
2: 66,357,416 (GRCm39) |
F951L |
probably damaging |
Het |
Septin11 |
A |
C |
5: 93,309,063 (GRCm39) |
K248Q |
possibly damaging |
Het |
Src |
T |
A |
2: 157,304,903 (GRCm39) |
Y151N |
probably damaging |
Het |
Tbc1d32 |
A |
T |
10: 56,091,176 (GRCm39) |
M119K |
possibly damaging |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Ttn |
A |
G |
2: 76,656,475 (GRCm39) |
|
probably benign |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
|
Other mutations in Klk13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02365:Klk13
|
APN |
7 |
43,373,290 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL02792:Klk13
|
APN |
7 |
43,370,838 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL03105:Klk13
|
APN |
7 |
43,370,904 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03246:Klk13
|
APN |
7 |
43,370,422 (GRCm39) |
missense |
probably damaging |
0.98 |
R0254:Klk13
|
UTSW |
7 |
43,373,245 (GRCm39) |
missense |
probably benign |
0.00 |
R0973:Klk13
|
UTSW |
7 |
43,370,582 (GRCm39) |
critical splice donor site |
probably null |
|
R0973:Klk13
|
UTSW |
7 |
43,370,582 (GRCm39) |
critical splice donor site |
probably null |
|
R0974:Klk13
|
UTSW |
7 |
43,370,582 (GRCm39) |
critical splice donor site |
probably null |
|
R1960:Klk13
|
UTSW |
7 |
43,370,431 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4607:Klk13
|
UTSW |
7 |
43,363,284 (GRCm39) |
nonsense |
probably null |
|
R4608:Klk13
|
UTSW |
7 |
43,363,284 (GRCm39) |
nonsense |
probably null |
|
R7018:Klk13
|
UTSW |
7 |
43,376,126 (GRCm39) |
missense |
probably benign |
0.00 |
R7234:Klk13
|
UTSW |
7 |
43,370,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7375:Klk13
|
UTSW |
7 |
43,370,582 (GRCm39) |
critical splice donor site |
probably null |
|
R7480:Klk13
|
UTSW |
7 |
43,370,846 (GRCm39) |
missense |
probably benign |
0.00 |
R7876:Klk13
|
UTSW |
7 |
43,370,403 (GRCm39) |
missense |
probably benign |
0.12 |
R8326:Klk13
|
UTSW |
7 |
43,376,136 (GRCm39) |
missense |
probably benign |
0.03 |
R8388:Klk13
|
UTSW |
7 |
43,373,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-11 |