Incidental Mutation 'R4067:Klk1'
ID 316168
Institutional Source Beutler Lab
Gene Symbol Klk1
Ensembl Gene ENSMUSG00000063903
Gene Name kallikrein 1
Synonyms Klk6, mGk-6, 0610007D04Rik
MMRRC Submission 040853-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4067 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43874784-43879042 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 43876968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 24 (R24*)
Ref Sequence ENSEMBL: ENSMUSP00000074659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037220] [ENSMUST00000075162] [ENSMUST00000206144] [ENSMUST00000206366] [ENSMUST00000206686]
AlphaFold P15947
Predicted Effect probably benign
Transcript: ENSMUST00000037220
SMART Domains Protein: ENSMUSP00000048665
Gene: ENSMUSG00000038782

DomainStartEndE-ValueType
transmembrane domain 35 52 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000072123
SMART Domains Protein: ENSMUSP00000071992
Gene: ENSMUSG00000062073

DomainStartEndE-ValueType
transmembrane domain 32 49 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000075162
AA Change: R24*
SMART Domains Protein: ENSMUSP00000074659
Gene: ENSMUSG00000063903
AA Change: R24*

DomainStartEndE-ValueType
Tryp_SPc 24 253 7.26e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205329
Predicted Effect probably benign
Transcript: ENSMUST00000206144
Predicted Effect probably benign
Transcript: ENSMUST00000206366
Predicted Effect probably benign
Transcript: ENSMUST00000206686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206890
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 98% (61/62)
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. Mice lacking the encoded protein are unable to generate significant levels of kinins in most tissues, develop cardiovascular abnormalities and exhibit hypercalciuria of renal origin. This gene is located in a cluster of several related kallikrein genes on chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik T A 1: 151,769,150 (GRCm39) T121S possibly damaging Het
4930503E14Rik T C 14: 44,406,641 (GRCm39) E136G probably damaging Het
Adgrg4 A G X: 56,005,320 (GRCm39) N2527S probably damaging Het
Ak1 G A 2: 32,519,593 (GRCm39) S7N probably benign Het
Aktip A C 8: 91,852,466 (GRCm39) I230R possibly damaging Het
Alms1 A G 6: 85,598,271 (GRCm39) I1032M probably damaging Het
Asb4 T A 6: 5,423,651 (GRCm39) V266E probably damaging Het
Bace1 G A 9: 45,765,962 (GRCm39) V130M probably damaging Het
Bglap A T 3: 88,291,744 (GRCm39) probably benign Het
Brpf3 T C 17: 29,040,233 (GRCm39) S885P probably benign Het
Chd9 A T 8: 91,750,202 (GRCm39) I1742F possibly damaging Het
Col9a2 T A 4: 120,909,586 (GRCm39) I415N probably damaging Het
Cybc1 A T 11: 121,115,528 (GRCm39) probably null Het
Dnajc7 T C 11: 100,492,607 (GRCm39) Y38C probably benign Het
Dync2i2 A G 2: 29,922,820 (GRCm39) L309P probably benign Het
Enam A G 5: 88,651,236 (GRCm39) Y840C probably damaging Het
Etnppl T A 3: 130,425,442 (GRCm39) C416S probably damaging Het
Fgf20 A T 8: 40,732,896 (GRCm39) S181T probably benign Het
Fut8 T A 12: 77,510,835 (GRCm39) Y421N probably damaging Het
Gcn1 T G 5: 115,737,147 (GRCm39) L1295R probably damaging Het
Gm11437 A G 11: 84,055,337 (GRCm39) V93A probably benign Het
Gm9989 T C 3: 81,829,549 (GRCm39) noncoding transcript Het
Gsdmc4 A T 15: 63,765,736 (GRCm39) probably null Het
Gvin3 T A 7: 106,198,772 (GRCm39) noncoding transcript Het
Ighv10-1 A T 12: 114,442,643 (GRCm39) M114K probably benign Het
Il22b T C 10: 118,126,115 (GRCm39) I161V probably damaging Het
Itfg2 T A 6: 128,387,413 (GRCm39) probably benign Het
Kirrel1 G A 3: 86,995,774 (GRCm39) Q387* probably null Het
Klra7 T C 6: 130,208,612 (GRCm39) probably null Het
Ltn1 T C 16: 87,213,118 (GRCm39) Y481C possibly damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Mrps2 A G 2: 28,359,782 (GRCm39) N213S probably benign Het
Muc4 A T 16: 32,569,869 (GRCm39) I310F possibly damaging Het
Ntrk3 T A 7: 78,167,185 (GRCm39) Y102F probably damaging Het
Or8k24 A T 2: 86,216,431 (GRCm39) C110* probably null Het
Otof C T 5: 30,556,635 (GRCm39) G282D probably damaging Het
Pcdhb2 A T 18: 37,430,367 (GRCm39) probably null Het
Pign A T 1: 105,515,703 (GRCm39) probably null Het
Plekha6 G A 1: 133,222,416 (GRCm39) E1001K probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Ppm1d A G 11: 85,236,678 (GRCm39) T486A probably benign Het
Pudp A G 18: 50,701,329 (GRCm39) F135L probably benign Het
Rd3l T G 12: 111,945,945 (GRCm39) N178T probably benign Het
Rel A C 11: 23,703,215 (GRCm39) probably null Het
Sf3a1 T A 11: 4,117,824 (GRCm39) F195L probably damaging Het
Slc30a1 G C 1: 191,639,401 (GRCm39) A95P probably damaging Het
Slc47a2 T C 11: 61,194,773 (GRCm39) T469A probably benign Het
Slc4a10 A T 2: 61,876,989 (GRCm39) M1L probably benign Het
Slc8a1 T A 17: 81,955,703 (GRCm39) D445V probably damaging Het
Slc9a7 C T X: 20,071,793 (GRCm39) G113R probably damaging Het
Spata31e5 T A 1: 28,816,712 (GRCm39) D440V probably damaging Het
Spic T C 10: 88,511,545 (GRCm39) H237R possibly damaging Het
Stk26 A G X: 49,977,910 (GRCm39) E317G probably benign Het
Tex10 A T 4: 48,459,355 (GRCm39) Y506* probably null Het
Trhde T A 10: 114,280,585 (GRCm39) R848* probably null Het
Trpc5 T A X: 143,202,594 (GRCm39) R545* probably null Het
Usp24 C T 4: 106,216,286 (GRCm39) T379M possibly damaging Het
Zfp783 A T 6: 47,922,499 (GRCm39) noncoding transcript Het
Other mutations in Klk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Klk1 APN 7 43,878,020 (GRCm39) missense probably damaging 0.98
IGL01788:Klk1 APN 7 43,878,407 (GRCm39) missense probably benign 0.00
R0011:Klk1 UTSW 7 43,878,959 (GRCm39) missense probably benign 0.03
R0184:Klk1 UTSW 7 43,878,173 (GRCm39) missense possibly damaging 0.50
R0853:Klk1 UTSW 7 43,870,922 (GRCm39) unclassified probably benign
R0925:Klk1 UTSW 7 43,878,240 (GRCm39) critical splice donor site probably null
R2044:Klk1 UTSW 7 43,878,458 (GRCm39) missense possibly damaging 0.95
R2518:Klk1 UTSW 7 43,870,161 (GRCm39) splice site probably null
R2982:Klk1 UTSW 7 43,878,863 (GRCm39) missense probably damaging 1.00
R3962:Klk1 UTSW 7 43,878,973 (GRCm39) missense possibly damaging 0.87
R4041:Klk1 UTSW 7 43,878,986 (GRCm39) missense probably damaging 1.00
R4385:Klk1 UTSW 7 43,877,993 (GRCm39) missense probably benign 0.12
R4901:Klk1 UTSW 7 43,878,139 (GRCm39) missense probably damaging 0.99
R5256:Klk1 UTSW 7 43,870,985 (GRCm39) unclassified probably benign
R5580:Klk1 UTSW 7 43,878,238 (GRCm39) missense probably benign 0.00
R5595:Klk1 UTSW 7 43,878,161 (GRCm39) splice site probably null
R6818:Klk1 UTSW 7 43,878,883 (GRCm39) missense probably damaging 1.00
R7100:Klk1 UTSW 7 43,878,848 (GRCm39) missense probably damaging 1.00
R8351:Klk1 UTSW 7 43,878,410 (GRCm39) missense probably benign 0.11
R8451:Klk1 UTSW 7 43,878,410 (GRCm39) missense probably benign 0.11
R8458:Klk1 UTSW 7 43,874,933 (GRCm39) missense probably damaging 1.00
R8850:Klk1 UTSW 7 43,877,056 (GRCm39) missense probably damaging 0.99
R9081:Klk1 UTSW 7 43,874,952 (GRCm39) unclassified probably benign
R9786:Klk1 UTSW 7 43,878,104 (GRCm39) missense probably damaging 0.97
R9796:Klk1 UTSW 7 43,877,965 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- CCTGAGTCTTGCTTCAAAAGTTC -3'
(R):5'- AGTCATGTTCTCTGGCTGCC -3'

Sequencing Primer
(F):5'- ACAGCATAGATCTCCCTATCCAGG -3'
(R):5'- CTCTGGCTGCCACCCTG -3'
Posted On 2015-05-15