Incidental Mutation 'R4847:Klk14'
ID 373306
Institutional Source Beutler Lab
Gene Symbol Klk14
Ensembl Gene ENSMUSG00000044737
Gene Name kallikrein related-peptidase 14
Synonyms
MMRRC Submission 042460-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4847 (G1)
Quality Score 225
Status Not 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

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 0.7935 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik C T 11: 80,264,940 (GRCm39) V171M probably damaging Het
Abhd3 A G 18: 10,647,786 (GRCm39) S328P possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Aldh1b1 G T 4: 45,802,625 (GRCm39) K54N possibly damaging Het
Amacr C T 15: 10,994,958 (GRCm39) Q257* probably null Het
Ankrd12 A T 17: 66,331,087 (GRCm39) D309E probably benign Het
Anks6 T C 4: 47,033,266 (GRCm39) T600A probably benign Het
Ap3b1 A G 13: 94,608,287 (GRCm39) E586G probably benign Het
Atad2b A G 12: 4,994,901 (GRCm39) probably null Het
Cant1 G A 11: 118,300,936 (GRCm39) Q240* probably null Het
Cep152 T C 2: 125,460,394 (GRCm39) Y186C possibly damaging Het
Cep76 C A 18: 67,752,639 (GRCm39) R603I probably benign Het
Chad T C 11: 94,459,153 (GRCm39) S352P probably benign Het
Ckap2 T C 8: 22,665,084 (GRCm39) E460G probably damaging Het
Col22a1 T C 15: 71,671,348 (GRCm39) Y1004C unknown Het
Col9a3 G A 2: 180,257,318 (GRCm39) G480S probably damaging Het
Cpsf2 A G 12: 101,963,561 (GRCm39) D430G probably benign Het
Cramp1 T C 17: 25,204,063 (GRCm39) D305G probably damaging Het
Ctnnd1 C A 2: 84,452,396 (GRCm39) E76* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp2c39 A T 19: 39,549,340 (GRCm39) N286I probably damaging Het
Ddx11 A G 17: 66,437,796 (GRCm39) E174G probably damaging Het
Ddx19a T C 8: 111,703,677 (GRCm39) E369G probably damaging Het
Dnai7 T A 6: 145,120,911 (GRCm39) H636L probably damaging Het
Epha1 T A 6: 42,338,848 (GRCm39) D687V possibly damaging Het
Fgr T C 4: 132,721,959 (GRCm39) W132R probably damaging Het
Fras1 A T 5: 96,692,851 (GRCm39) D170V possibly damaging Het
Gas2l1 A G 11: 5,014,173 (GRCm39) S96P probably damaging Het
Gfy G A 7: 44,827,020 (GRCm39) P359S probably damaging Het
Hexim2 A G 11: 103,029,767 (GRCm39) N273S probably benign Het
Hr A T 14: 70,793,916 (GRCm39) T59S probably benign Het
Ift70a2 A T 2: 75,808,058 (GRCm39) N151K probably benign Het
Impdh2 A G 9: 108,441,870 (GRCm39) Y166C probably damaging Het
Impdh2 T A 9: 108,442,714 (GRCm39) F514Y probably benign Het
Iqgap2 A G 13: 95,810,251 (GRCm39) F731S probably benign Het
Klhl17 A T 4: 156,316,054 (GRCm39) H433Q probably damaging Het
Kntc1 A C 5: 123,940,337 (GRCm39) N1645T probably benign Het
Mcm8 A G 2: 132,661,923 (GRCm39) I114V probably benign Het
Mink1 T A 11: 70,492,854 (GRCm39) L160Q probably damaging Het
Mipol1 A T 12: 57,350,282 (GRCm39) S27C probably damaging Het
Mthfr T C 4: 148,132,596 (GRCm39) V217A probably damaging Het
Or5b105 A G 19: 13,079,898 (GRCm39) Y257H probably damaging Het
Or5p53 T A 7: 107,533,034 (GRCm39) C102* probably null Het
Pde1c T C 6: 56,100,019 (GRCm39) K614E possibly damaging Het
Pds5b A T 5: 150,671,577 (GRCm39) E407V probably damaging Het
Pdzph1 A G 17: 59,280,525 (GRCm39) S586P possibly damaging Het
Prkcb C T 7: 122,167,372 (GRCm39) R361W probably benign Het
Psen2 T A 1: 180,073,197 (GRCm39) probably null Het
Ptk2 T A 15: 73,103,805 (GRCm39) M82L probably benign Het
Ptk2b T C 14: 66,411,331 (GRCm39) D400G probably damaging Het
Samd8 G A 14: 21,842,503 (GRCm39) R275Q possibly damaging Het
Senp2 A G 16: 21,857,386 (GRCm39) T403A possibly damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Skap2 T A 6: 51,980,649 (GRCm39) I52L probably benign Het
Slc5a7 T C 17: 54,584,168 (GRCm39) D374G possibly damaging Het
Slmap A T 14: 26,147,763 (GRCm39) L699M possibly damaging Het
Sntg1 A C 1: 8,665,706 (GRCm39) C203G possibly damaging Het
Stard9 T C 2: 120,533,594 (GRCm39) S3284P probably benign Het
Tbx21 T C 11: 97,005,857 (GRCm39) Y36C probably damaging Het
Tecpr2 A G 12: 110,906,311 (GRCm39) Y971C probably damaging Het
Trpm5 T A 7: 142,641,500 (GRCm39) I137F possibly damaging Het
Unk A G 11: 115,945,232 (GRCm39) K426E probably damaging Het
Zc3hc1 T C 6: 30,375,981 (GRCm39) D193G probably benign 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
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
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'- AAAGATCTCTGTCTGCTGGGC -3'
(R):5'- TGGCAAGGGTTCTACATACACTC -3'

Sequencing Primer
(F):5'- ATCTCTGTCTGCTGGGCATTGG -3'
(R):5'- TGAATTATGCCTCTCAGCCTAG -3'
Posted On 2016-03-01