Incidental Mutation 'R5253:Klk14'
| ID |
399208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klk14
|
| Ensembl Gene |
ENSMUSG00000044737 |
| Gene Name |
kallikrein related-peptidase 14 |
| Synonyms |
|
| MMRRC Submission |
042824-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5253 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
43339842-43344960 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43341501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 51
(C51Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056935
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056329]
|
| AlphaFold |
Q8CGR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056329
AA Change: C51Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056935
Gene: ENSMUSG00000044737
AA Change: C51Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
23 |
243 |
2.02e-93 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181454
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205416
|
| Meta Mutation Damage Score |
0.7935 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
99% (72/73) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The encoded protein is a precursor that undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. The encoded enzyme was found to activate the complement pathway by cleavage of C3 to release C3a anaphylotoxin. This gene is one of the several glandular kallikrein genes located in a cluster on chromosome 7. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
T |
C |
9: 39,962,746 (GRCm39) |
|
noncoding transcript |
Het |
| Actrt2 |
A |
C |
4: 154,752,026 (GRCm39) |
S37A |
possibly damaging |
Het |
| Adcy7 |
T |
C |
8: 89,040,742 (GRCm39) |
I327T |
probably damaging |
Het |
| Ankrd13b |
A |
G |
11: 77,364,061 (GRCm39) |
|
probably benign |
Het |
| Arap1 |
A |
C |
7: 101,037,851 (GRCm39) |
I237L |
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,902,971 (GRCm39) |
Y359N |
probably benign |
Het |
| Atad1 |
A |
G |
19: 32,651,702 (GRCm39) |
M343T |
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,609,964 (GRCm39) |
I392N |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,574,930 (GRCm39) |
S1914P |
probably benign |
Het |
| Cd300a |
G |
T |
11: 114,785,577 (GRCm39) |
R174L |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,135,831 (GRCm39) |
P356L |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,405,436 (GRCm39) |
L283P |
probably damaging |
Het |
| Dusp1 |
T |
C |
17: 26,727,191 (GRCm39) |
N36S |
probably benign |
Het |
| Dync2i2 |
T |
A |
2: 29,922,375 (GRCm39) |
|
probably benign |
Het |
| Ercc3 |
C |
A |
18: 32,402,917 (GRCm39) |
P776Q |
probably damaging |
Het |
| Etv1 |
A |
G |
12: 38,902,248 (GRCm39) |
R260G |
possibly damaging |
Het |
| Fa2h |
C |
G |
8: 112,075,869 (GRCm39) |
M251I |
probably benign |
Het |
| Fcsk |
T |
C |
8: 111,610,499 (GRCm39) |
E968G |
possibly damaging |
Het |
| Flg2 |
A |
G |
3: 93,108,119 (GRCm39) |
D49G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,888,884 (GRCm39) |
E2810G |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,366,805 (GRCm39) |
F343S |
possibly damaging |
Het |
| Gdf2 |
A |
G |
14: 33,667,264 (GRCm39) |
T329A |
probably benign |
Het |
| Hcn4 |
T |
A |
9: 58,731,558 (GRCm39) |
I255N |
unknown |
Het |
| Hk3 |
T |
G |
13: 55,158,824 (GRCm39) |
D485A |
probably damaging |
Het |
| Hook3 |
T |
C |
8: 26,562,319 (GRCm39) |
T249A |
probably benign |
Het |
| Kcp |
C |
T |
6: 29,498,519 (GRCm39) |
|
probably benign |
Het |
| Kifc2 |
G |
T |
15: 76,550,481 (GRCm39) |
R515L |
possibly damaging |
Het |
| Kiss1r |
A |
G |
10: 79,756,584 (GRCm39) |
Y142C |
probably damaging |
Het |
| Klrb1a |
T |
A |
6: 128,596,126 (GRCm39) |
I72L |
probably benign |
Het |
| Lep |
T |
A |
6: 29,070,862 (GRCm39) |
F62Y |
probably damaging |
Het |
| Lrtm1 |
A |
G |
14: 28,743,801 (GRCm39) |
T90A |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,865,872 (GRCm39) |
D1472V |
probably benign |
Het |
| Ncor2 |
G |
T |
5: 125,103,994 (GRCm39) |
P1988Q |
probably benign |
Het |
| Nlrp4a |
C |
T |
7: 26,149,917 (GRCm39) |
S508L |
probably benign |
Het |
| Obp2b |
T |
A |
2: 25,627,155 (GRCm39) |
D29E |
probably benign |
Het |
| Or10ag2 |
G |
A |
2: 87,249,012 (GRCm39) |
V207M |
possibly damaging |
Het |
| Or4c109 |
A |
G |
2: 88,818,444 (GRCm39) |
L34P |
possibly damaging |
Het |
| Or4c119 |
A |
T |
2: 88,986,801 (GRCm39) |
C239* |
probably null |
Het |
| Or4k15b |
T |
C |
14: 50,272,745 (GRCm39) |
I38M |
possibly damaging |
Het |
| Or6c3b |
A |
G |
10: 129,527,601 (GRCm39) |
I103T |
probably damaging |
Het |
| Otof |
A |
G |
5: 30,527,483 (GRCm39) |
S1985P |
probably damaging |
Het |
| Oxct2a |
A |
T |
4: 123,216,886 (GRCm39) |
V165E |
probably damaging |
Het |
| Pcdhgb7 |
T |
C |
18: 37,886,150 (GRCm39) |
V440A |
possibly damaging |
Het |
| Pelp1 |
C |
A |
11: 70,292,487 (GRCm39) |
G211C |
probably damaging |
Het |
| Phox2a |
A |
G |
7: 101,471,312 (GRCm39) |
H268R |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,841,983 (GRCm39) |
|
probably null |
Het |
| Pramel1 |
T |
A |
4: 143,125,156 (GRCm39) |
M360K |
probably benign |
Het |
| Rbm6 |
C |
T |
9: 107,729,856 (GRCm39) |
R132K |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc45a1 |
T |
C |
4: 150,722,727 (GRCm39) |
T386A |
probably damaging |
Het |
| Smad2 |
A |
G |
18: 76,421,124 (GRCm39) |
Y151C |
probably damaging |
Het |
| Sptbn2 |
G |
A |
19: 4,800,110 (GRCm39) |
G2188D |
probably benign |
Het |
| Sugt1 |
G |
A |
14: 79,840,341 (GRCm39) |
|
probably null |
Het |
| Tctn3 |
T |
C |
19: 40,595,685 (GRCm39) |
S367G |
probably benign |
Het |
| Tead1 |
G |
T |
7: 112,460,752 (GRCm39) |
D219Y |
probably damaging |
Het |
| Tenm2 |
G |
T |
11: 35,938,028 (GRCm39) |
Y1548* |
probably null |
Het |
| Tenm3 |
T |
A |
8: 48,682,233 (GRCm39) |
I2466F |
possibly damaging |
Het |
| Tent4b |
C |
A |
8: 88,926,651 (GRCm39) |
H20Q |
possibly damaging |
Het |
| Tgm2 |
G |
A |
2: 157,971,358 (GRCm39) |
P294S |
probably damaging |
Het |
| Tns2 |
T |
C |
15: 102,019,888 (GRCm39) |
S585P |
probably damaging |
Het |
| Ttc41 |
A |
G |
10: 86,566,806 (GRCm39) |
K491E |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,621,895 (GRCm39) |
T15549I |
probably damaging |
Het |
| Vmn1r157 |
T |
C |
7: 22,461,183 (GRCm39) |
L21P |
probably damaging |
Het |
| Vmn2r81 |
A |
G |
10: 79,083,820 (GRCm39) |
M65V |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,345,433 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Klk14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0309:Klk14
|
UTSW |
7 |
43,343,769 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0467:Klk14
|
UTSW |
7 |
43,343,534 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1432:Klk14
|
UTSW |
7 |
43,344,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Klk14
|
UTSW |
7 |
43,343,377 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2160:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2185:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2188:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2189:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2472:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2474:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2961:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2962:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2968:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3147:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3148:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3176:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3177:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3276:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3277:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3418:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3419:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3430:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3956:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4081:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4152:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4153:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4169:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4205:Klk14
|
UTSW |
7 |
43,344,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4284:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4285:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4287:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4356:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4359:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4379:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4380:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4381:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4611:Klk14
|
UTSW |
7 |
43,343,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Klk14
|
UTSW |
7 |
43,341,392 (GRCm39) |
missense |
probably benign |
|
|
R4784:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4792:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Klk14
|
UTSW |
7 |
43,341,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4884:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4941:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4942:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4943:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4972:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5021:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5022:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5053:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5056:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5097:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5257:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5459:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5489:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5490:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5543:Klk14
|
UTSW |
7 |
43,341,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6823:Klk14
|
UTSW |
7 |
43,343,880 (GRCm39) |
nonsense |
probably null |
|
|
R7960:Klk14
|
UTSW |
7 |
43,341,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7993:Klk14
|
UTSW |
7 |
43,344,367 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8220:Klk14
|
UTSW |
7 |
43,343,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8701:Klk14
|
UTSW |
7 |
43,343,566 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8880:Klk14
|
UTSW |
7 |
43,343,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0064:Klk14
|
UTSW |
7 |
43,343,534 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGATCTCTGTCTGCTGGGC -3'
(R):5'- GCAAGGGTTCTACATACACTCTG -3'
Sequencing Primer
(F):5'- ATCTCTGTCTGCTGGGCATTGG -3'
(R):5'- TGAATTATGCCTCTCAGCCTAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation