Incidental Mutation 'R7484:Klk1b24'
ID 579996
Institutional Source Beutler Lab
Gene Symbol Klk1b24
Ensembl Gene ENSMUSG00000063713
Gene Name kallikrein 1-related peptidase b24
Synonyms mGk-24, Klk24
MMRRC Submission 045558-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R7484 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43837660-43841879 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) G to T at 43839688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000073392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073713] [ENSMUST00000073713] [ENSMUST00000073713] [ENSMUST00000073713]
AlphaFold Q61754
Predicted Effect probably null
Transcript: ENSMUST00000073713
SMART Domains Protein: ENSMUSP00000073392
Gene: ENSMUSG00000063713

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 255 1.22e-96 SMART
Predicted Effect probably null
Transcript: ENSMUST00000073713
SMART Domains Protein: ENSMUSP00000073392
Gene: ENSMUSG00000063713

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 255 1.22e-96 SMART
Predicted Effect probably null
Transcript: ENSMUST00000073713
SMART Domains Protein: ENSMUSP00000073392
Gene: ENSMUSG00000063713

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 255 1.22e-96 SMART
Predicted Effect probably null
Transcript: ENSMUST00000073713
SMART Domains Protein: ENSMUSP00000073392
Gene: ENSMUSG00000063713

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 255 1.22e-96 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (65/66)
MGI Phenotype FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm5 A G 4: 144,504,521 (GRCm39) L210P probably damaging Het
Acacb G A 5: 114,356,923 (GRCm39) V1285I probably damaging Het
Acly A T 11: 100,386,789 (GRCm39) I591N probably damaging Het
Acr T A 15: 89,457,427 (GRCm39) V225E probably damaging Het
Actr8 A G 14: 29,714,925 (GRCm39) D580G probably damaging Het
Adamts12 C A 15: 11,345,734 (GRCm39) Q1592K probably benign Het
Aire T C 10: 77,878,404 (GRCm39) E138G probably damaging Het
Apob C T 12: 8,056,884 (GRCm39) Q1789* probably null Het
Cbx5 A C 15: 103,114,256 (GRCm39) probably null Het
Cd300lb A T 11: 114,819,345 (GRCm39) W95R probably damaging Het
Cdc16 A G 8: 13,827,605 (GRCm39) T504A probably benign Het
Cenpf A G 1: 189,389,018 (GRCm39) S1605P probably damaging Het
Ckap2l A G 2: 129,114,455 (GRCm39) V596A possibly damaging Het
Cntn1 T C 15: 92,151,922 (GRCm39) W454R probably benign Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Csf2rb A G 15: 78,223,099 (GRCm39) T104A possibly damaging Het
Cyp4a12b A G 4: 115,289,760 (GRCm39) D209G possibly damaging Het
Ddx23 T C 15: 98,546,570 (GRCm39) E533G probably damaging Het
Dscaml1 A G 9: 45,660,744 (GRCm39) probably null Het
Eif3l T G 15: 78,968,336 (GRCm39) C202G probably benign Het
Ephx4 T G 5: 107,577,612 (GRCm39) M312R probably damaging Het
Erich6 A T 3: 58,534,112 (GRCm39) probably null Het
Far2 G A 6: 148,075,411 (GRCm39) D424N probably damaging Het
Fat1 C A 8: 45,489,221 (GRCm39) N3497K probably damaging Het
Fstl3 G A 10: 79,615,865 (GRCm39) C117Y probably damaging Het
Fyb2 A T 4: 104,870,499 (GRCm39) H700L probably benign Het
Gm8356 T A 14: 17,691,282 (GRCm39) M128L probably benign Het
Golim4 G T 3: 75,805,442 (GRCm39) probably null Het
Grm1 T G 10: 10,622,403 (GRCm39) D440A probably benign Het
Gtf2a1 A G 12: 91,529,747 (GRCm39) V322A probably benign Het
Hid1 T C 11: 115,243,407 (GRCm39) probably null Het
Igfals G A 17: 25,098,962 (GRCm39) V18M possibly damaging Het
Lmbr1 T C 5: 29,551,850 (GRCm39) probably benign Het
Lrrc40 T C 3: 157,746,194 (GRCm39) S90P probably benign Het
Mapk9 T C 11: 49,763,663 (GRCm39) Y185H probably damaging Het
Marveld2 C T 13: 100,748,068 (GRCm39) G337D probably damaging Het
Mga G T 2: 119,776,710 (GRCm39) R1539L probably damaging Het
Mllt6 T A 11: 97,563,442 (GRCm39) S342T probably benign Het
Ms4a6c T C 19: 11,449,893 (GRCm39) probably null Het
Muc16 T A 9: 18,558,064 (GRCm39) H2743L unknown Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Or10ag60 T C 2: 87,438,281 (GRCm39) F183S probably damaging Het
Or2l13 A G 16: 19,305,753 (GRCm39) H55R possibly damaging Het
Plcd3 T G 11: 102,962,545 (GRCm39) K635N probably damaging Het
Prkch T A 12: 73,632,301 (GRCm39) probably null Het
Rb1cc1 T C 1: 6,344,441 (GRCm39) V1570A probably damaging Het
Rp1 T C 1: 4,415,704 (GRCm39) N1803D probably benign Het
Rufy3 T A 5: 88,746,331 (GRCm39) V72E probably benign Het
Secisbp2l G A 2: 125,613,452 (GRCm39) Q181* probably null Het
Sgcb A G 5: 73,797,188 (GRCm39) F191L possibly damaging Het
Sgsh T A 11: 119,237,183 (GRCm39) D477V probably damaging Het
Shoc1 A T 4: 59,062,286 (GRCm39) V924E probably damaging Het
Slc22a28 C A 19: 8,048,492 (GRCm39) S385I probably benign Het
Slc26a3 T C 12: 31,497,787 (GRCm39) V47A probably benign Het
Slco2a1 A T 9: 102,945,185 (GRCm39) I187F probably damaging Het
Sltm T C 9: 70,481,179 (GRCm39) S344P unknown Het
Sort1 A G 3: 108,246,141 (GRCm39) T373A probably damaging Het
Stab1 A G 14: 30,882,274 (GRCm39) F474L probably benign Het
Tbc1d5 G T 17: 51,224,573 (GRCm39) A326E possibly damaging Het
Tcstv4 A T 13: 120,770,017 (GRCm39) K112N probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdr70 G A 15: 7,951,562 (GRCm39) T425I probably benign Het
Zfp30 T C 7: 29,492,231 (GRCm39) Y243H probably benign Het
Zfp974 A T 7: 27,611,559 (GRCm39) N55K possibly damaging Het
Zftraf1 A G 15: 76,530,435 (GRCm39) L295P probably damaging Het
Other mutations in Klk1b24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Klk1b24 APN 7 43,841,057 (GRCm39) missense probably damaging 0.96
IGL02394:Klk1b24 APN 7 43,841,294 (GRCm39) missense possibly damaging 0.65
IGL02500:Klk1b24 APN 7 43,837,748 (GRCm39) splice site probably benign
IGL03030:Klk1b24 APN 7 43,840,790 (GRCm39) missense probably benign
R1458:Klk1b24 UTSW 7 43,840,890 (GRCm39) missense possibly damaging 0.49
R1465:Klk1b24 UTSW 7 43,840,785 (GRCm39) missense probably benign 0.24
R1465:Klk1b24 UTSW 7 43,840,785 (GRCm39) missense probably benign 0.24
R1714:Klk1b24 UTSW 7 43,840,939 (GRCm39) missense probably damaging 1.00
R1771:Klk1b24 UTSW 7 43,837,653 (GRCm39) splice site probably null
R1791:Klk1b24 UTSW 7 43,839,852 (GRCm39) splice site probably null
R3690:Klk1b24 UTSW 7 43,841,243 (GRCm39) missense probably benign
R4726:Klk1b24 UTSW 7 43,839,820 (GRCm39) missense probably damaging 1.00
R5654:Klk1b24 UTSW 7 43,840,889 (GRCm39) missense probably benign 0.00
R5883:Klk1b24 UTSW 7 43,839,787 (GRCm39) missense probably benign 0.00
R6775:Klk1b24 UTSW 7 43,840,889 (GRCm39) missense probably benign 0.05
R7083:Klk1b24 UTSW 7 43,841,225 (GRCm39) missense probably damaging 1.00
R7644:Klk1b24 UTSW 7 43,841,304 (GRCm39) splice site probably null
R9761:Klk1b24 UTSW 7 43,839,779 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- GGCCTGACATTATACCCAATCC -3'
(R):5'- AGTCATGTTCTCTGGCTGCC -3'

Sequencing Primer
(F):5'- TACCCAATCCCTGATTCAAGAGTTC -3'
(R):5'- GCTGCCACCCTGCTTTCATG -3'
Posted On 2019-10-07