Incidental Mutation 'R5054:Klk14'
ID 390706
Institutional Source Beutler Lab
Gene Symbol Klk14
Ensembl Gene ENSMUSG00000044737
Gene Name kallikrein related-peptidase 14
Synonyms
MMRRC Submission 042644-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5054 (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

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 94% (67/71)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A G 13: 59,837,315 (GRCm39) Y257H probably damaging Het
Adam28 C T 14: 68,855,164 (GRCm39) C659Y probably damaging Het
Adamtsl2 G A 2: 26,991,732 (GRCm39) E627K probably damaging Het
Atad5 T A 11: 79,985,502 (GRCm39) S196R probably benign Het
Bcam T A 7: 19,490,785 (GRCm39) probably benign Het
Birc6 A G 17: 74,962,320 (GRCm39) H3978R probably damaging Het
Btbd7 T C 12: 102,804,471 (GRCm39) I190V probably benign Het
Ccdc8 T C 7: 16,728,970 (GRCm39) V153A probably damaging Het
Cyp2a5 C G 7: 26,540,529 (GRCm39) R68G probably damaging Het
Dock3 T C 9: 106,815,105 (GRCm39) Y1254C probably damaging Het
Dync2h1 T C 9: 7,085,007 (GRCm39) E2794G possibly damaging Het
Dytn C A 1: 63,700,318 (GRCm39) V271L possibly damaging Het
Eif1ad15 T C 12: 88,288,071 (GRCm39) I61V probably benign Het
Eif2s2 A C 2: 154,734,590 (GRCm39) probably null Het
Fndc7 A G 3: 108,788,663 (GRCm39) S193P probably damaging Het
Fzr1 G A 10: 81,207,253 (GRCm39) probably benign Het
Gm17472 T C 6: 42,957,938 (GRCm39) I69T probably damaging Het
Gmppa C A 1: 75,416,015 (GRCm39) Y137* probably null Het
Gpr45 A G 1: 43,071,809 (GRCm39) I151V probably benign Het
H1f0 G A 15: 78,912,973 (GRCm39) A18T probably damaging Het
Hbb-bh1 C T 7: 103,491,063 (GRCm39) V114I probably benign Het
Impa2 C A 18: 67,439,797 (GRCm39) P98Q probably damaging Het
Kazn T C 4: 141,835,957 (GRCm39) N573D unknown Het
Kcna2 A T 3: 107,011,656 (GRCm39) D79V probably damaging Het
Kcna7 G A 7: 45,056,015 (GRCm39) R77H probably damaging Het
Kif13a A G 13: 46,956,122 (GRCm39) Y561H probably damaging Het
Klra1 T A 6: 130,352,247 (GRCm39) Q165L probably damaging Het
Mat2b T A 11: 40,570,869 (GRCm39) R318S probably damaging Het
Mgat4d G A 8: 84,094,837 (GRCm39) probably null Het
Mtor T A 4: 148,641,312 (GRCm39) probably null Het
Nostrin A T 2: 69,006,057 (GRCm39) Q247L possibly damaging Het
Obi1 C T 14: 104,745,466 (GRCm39) G70E probably damaging Het
Obscn T C 11: 58,964,443 (GRCm39) E3033G probably damaging Het
Pam C A 1: 97,749,642 (GRCm39) D839Y probably damaging Het
Pds5a A G 5: 65,795,157 (GRCm39) V693A probably damaging Het
Pigo A T 4: 43,021,337 (GRCm39) L535Q probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ptar1 G T 19: 23,671,729 (GRCm39) R44L probably damaging Het
Rad51c T C 11: 87,288,580 (GRCm39) H201R probably benign Het
Rims2 A T 15: 39,381,265 (GRCm39) probably null Het
Rpl22l1 T G 3: 28,860,985 (GRCm39) S67A possibly damaging Het
Rps10 A G 17: 27,849,454 (GRCm39) S143P probably damaging Het
Rundc1 T C 11: 101,315,967 (GRCm39) V13A probably benign Het
Sephs2 C A 7: 126,872,564 (GRCm39) M176I probably benign Het
Serpina16 C T 12: 103,641,189 (GRCm39) V179I probably benign Het
Serpini2 T A 3: 75,166,784 (GRCm39) T158S probably damaging Het
Slc12a3 A G 8: 95,072,979 (GRCm39) R701G probably damaging Het
Slc1a6 A G 10: 78,650,436 (GRCm39) E558G probably damaging Het
Ssx2ip T C 3: 146,136,672 (GRCm39) probably benign Het
Tbr1 A T 2: 61,636,346 (GRCm39) I241F possibly damaging Het
Tgfa G C 6: 86,247,064 (GRCm39) probably null Het
Tlr12 T A 4: 128,511,063 (GRCm39) K396* probably null Het
Tmppe A G 9: 114,235,026 (GRCm39) I442V probably benign Het
Tubb3 T C 8: 124,147,607 (GRCm39) V180A probably damaging Het
Vmn1r222 A G 13: 23,416,901 (GRCm39) V104A probably damaging Het
Vmn2r95 G T 17: 18,671,708 (GRCm39) V482L possibly damaging Het
Zfp184 G T 13: 22,143,452 (GRCm39) R386L possibly damaging Het
Zfp444 T A 7: 6,192,792 (GRCm39) V270E probably damaging Het
Zfp985 A T 4: 147,667,438 (GRCm39) Y102F 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
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'- AAGATCTCTGTCTGCTGGGC -3'
(R):5'- GGCAAGGGTTCTACATACACTC -3'

Sequencing Primer
(F):5'- ATCTCTGTCTGCTGGGCATTGG -3'
(R):5'- TGAATTATGCCTCTCAGCCTAG -3'
Posted On 2016-06-06