Incidental Mutation 'R1575:Klk14'
ID |
171095 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klk14
|
Ensembl Gene |
ENSMUSG00000044737 |
Gene Name |
kallikrein related-peptidase 14 |
Synonyms |
|
MMRRC Submission |
039613-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1575 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
43339842-43344960 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to G
at 43343377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056935
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056329]
|
AlphaFold |
Q8CGR5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000056329
|
SMART Domains |
Protein: ENSMUSP00000056935 Gene: ENSMUSG00000044737
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 |
0.9483 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
Validation Efficiency |
100% (72/72) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl2 |
T |
A |
3: 148,558,398 (GRCm39) |
T437S |
probably benign |
Het |
Akna |
A |
G |
4: 63,297,570 (GRCm39) |
F828S |
probably benign |
Het |
Alg9 |
G |
T |
9: 50,686,802 (GRCm39) |
A40S |
possibly damaging |
Het |
Alox8 |
T |
A |
11: 69,076,067 (GRCm39) |
H628L |
possibly damaging |
Het |
Aox3 |
T |
C |
1: 58,191,713 (GRCm39) |
W422R |
probably benign |
Het |
Atp13a4 |
T |
C |
16: 29,228,528 (GRCm39) |
D984G |
probably benign |
Het |
Bcam |
T |
C |
7: 19,494,307 (GRCm39) |
E363G |
possibly damaging |
Het |
Cadps2 |
C |
A |
6: 23,429,217 (GRCm39) |
V519F |
probably damaging |
Het |
Calca |
A |
G |
7: 114,234,396 (GRCm39) |
Y18H |
probably damaging |
Het |
Cd70 |
A |
G |
17: 57,453,364 (GRCm39) |
I100T |
probably damaging |
Het |
Cdk4 |
T |
A |
10: 126,900,520 (GRCm39) |
H95Q |
probably damaging |
Het |
Chchd1 |
T |
A |
14: 20,753,410 (GRCm39) |
N11K |
probably damaging |
Het |
Cma2 |
T |
A |
14: 56,210,272 (GRCm39) |
N52K |
probably damaging |
Het |
Cyp3a16 |
A |
G |
5: 145,373,267 (GRCm39) |
V500A |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,688,228 (GRCm39) |
|
probably null |
Het |
Dnajc13 |
A |
G |
9: 104,034,037 (GRCm39) |
S2206P |
probably benign |
Het |
Dtl |
T |
C |
1: 191,293,658 (GRCm39) |
|
probably null |
Het |
Fam186b |
T |
C |
15: 99,184,852 (GRCm39) |
T24A |
probably benign |
Het |
Fbxw21 |
A |
G |
9: 108,990,984 (GRCm39) |
V25A |
probably benign |
Het |
Gins1 |
T |
C |
2: 150,754,758 (GRCm39) |
S45P |
probably benign |
Het |
Gtpbp2 |
T |
A |
17: 46,476,869 (GRCm39) |
V349D |
probably damaging |
Het |
Hyal5 |
G |
T |
6: 24,876,792 (GRCm39) |
D222Y |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,900,060 (GRCm39) |
|
probably null |
Het |
Lama1 |
T |
A |
17: 68,117,404 (GRCm39) |
L2518Q |
possibly damaging |
Het |
Lrrc2 |
G |
A |
9: 110,808,555 (GRCm39) |
G264D |
probably benign |
Het |
Ltbp4 |
A |
G |
7: 27,022,245 (GRCm39) |
S893P |
probably damaging |
Het |
Mast4 |
G |
A |
13: 102,875,771 (GRCm39) |
P1107L |
probably damaging |
Het |
Mbd1 |
T |
A |
18: 74,408,490 (GRCm39) |
|
probably null |
Het |
Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
Ncan |
G |
A |
8: 70,562,848 (GRCm39) |
T470I |
probably benign |
Het |
Npy1r |
A |
T |
8: 67,156,813 (GRCm39) |
I78F |
probably damaging |
Het |
Or10q1b |
A |
T |
19: 13,682,889 (GRCm39) |
M233L |
probably benign |
Het |
Or8b52 |
G |
A |
9: 38,576,573 (GRCm39) |
T189M |
probably damaging |
Het |
Palb2 |
A |
T |
7: 121,710,061 (GRCm39) |
|
probably null |
Het |
Pax3 |
T |
C |
1: 78,080,121 (GRCm39) |
T422A |
probably benign |
Het |
Pebp1 |
A |
T |
5: 117,424,229 (GRCm39) |
D72E |
possibly damaging |
Het |
Pnliprp1 |
A |
T |
19: 58,728,901 (GRCm39) |
T363S |
probably benign |
Het |
Rbm44 |
G |
A |
1: 91,084,565 (GRCm39) |
|
probably null |
Het |
Rbm47 |
T |
A |
5: 66,182,358 (GRCm39) |
Y425F |
probably benign |
Het |
Robo3 |
G |
T |
9: 37,340,957 (GRCm39) |
A83E |
probably damaging |
Het |
Rrm1 |
A |
G |
7: 102,105,721 (GRCm39) |
Y279C |
probably damaging |
Het |
Rslcan18 |
A |
T |
13: 67,256,121 (GRCm39) |
|
probably benign |
Het |
Scara5 |
C |
A |
14: 65,968,314 (GRCm39) |
Q196K |
probably benign |
Het |
Setd1b |
C |
T |
5: 123,301,210 (GRCm39) |
|
probably benign |
Het |
Siah1a |
A |
G |
8: 87,451,869 (GRCm39) |
F205S |
probably damaging |
Het |
Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
Ssu72 |
A |
G |
4: 155,815,814 (GRCm39) |
D86G |
probably benign |
Het |
St7 |
G |
T |
6: 17,886,110 (GRCm39) |
K357N |
probably damaging |
Het |
Sv2b |
G |
A |
7: 74,797,425 (GRCm39) |
T323I |
probably damaging |
Het |
Syt1 |
T |
C |
10: 108,340,361 (GRCm39) |
N319S |
probably benign |
Het |
Tanc1 |
T |
A |
2: 59,621,995 (GRCm39) |
F371L |
probably damaging |
Het |
Tcf20 |
C |
A |
15: 82,739,693 (GRCm39) |
G586V |
probably benign |
Het |
Tg |
T |
C |
15: 66,601,534 (GRCm39) |
|
probably null |
Het |
Tyk2 |
A |
T |
9: 21,026,758 (GRCm39) |
N620K |
probably benign |
Het |
Ube2j1 |
T |
A |
4: 33,045,116 (GRCm39) |
S130T |
probably benign |
Het |
Ubr2 |
G |
T |
17: 47,243,418 (GRCm39) |
P1696H |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,041,085 (GRCm39) |
D266E |
probably damaging |
Het |
Vipr2 |
A |
G |
12: 116,107,892 (GRCm39) |
T426A |
probably benign |
Het |
Vmn2r104 |
A |
T |
17: 20,262,477 (GRCm39) |
W218R |
probably damaging |
Het |
Vmn2r83 |
T |
A |
10: 79,314,956 (GRCm39) |
N401K |
probably damaging |
Het |
Vwf |
A |
G |
6: 125,632,214 (GRCm39) |
E82G |
unknown |
Het |
Vwf |
T |
A |
6: 125,640,534 (GRCm39) |
Y2323* |
probably null |
Het |
Wdr76 |
T |
G |
2: 121,359,402 (GRCm39) |
V329G |
probably damaging |
Het |
Zan |
A |
G |
5: 137,460,214 (GRCm39) |
C1226R |
unknown |
Het |
Zbtb16 |
G |
T |
9: 48,743,572 (GRCm39) |
Q247K |
probably damaging |
Het |
Zfp541 |
T |
C |
7: 15,812,640 (GRCm39) |
V431A |
possibly damaging |
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 |
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 |
R5253: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'- AACTGAGTCAAGAACTTGAAATGGCCT -3'
(R):5'- AGAGATGGTCTTCACTGCTCGTCC -3'
Sequencing Primer
(F):5'- ATTCCTCTAAAGGAAGGGATAGC -3'
(R):5'- CACTGCTCGTCCCAGCC -3'
|
Posted On |
2014-04-13 |