Incidental Mutation 'R5490:Klk14'
ID 432041
Institutional Source Beutler Lab
Gene Symbol Klk14
Ensembl Gene ENSMUSG00000044737
Gene Name kallikrein related-peptidase 14
Synonyms
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5490 (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: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Btnl9 T C 11: 49,060,395 (GRCm39) E451G probably damaging Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably 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
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
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
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'- AAGATCTCTGTCTGCTGGGC -3'
(R):5'- GGCAAGGGTTCTACATACACTCTG -3'

Sequencing Primer
(F):5'- ATCTCTGTCTGCTGGGCATTGG -3'
(R):5'- TGAATTATGCCTCTCAGCCTAG -3'
Posted On 2016-10-05