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) question?
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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