Incidental Mutation 'IGL01516:Klk1b22'
ID90379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk1b22
Ensembl Gene ENSMUSG00000060177
Gene Namekallikrein 1-related peptidase b22
SynonymsKlk22, Egfbp1, mGk-22, Egfbp-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.055) question?
Stock #IGL01516
Quality Score
Status
Chromosome7
Chromosomal Location44112673-44116922 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 44116308 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 196 (C196F)
Ref Sequence ENSEMBL: ENSMUSP00000076733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077528]
Predicted Effect probably damaging
Transcript: ENSMUST00000077528
AA Change: C196F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076733
Gene: ENSMUSG00000060177
AA Change: C196F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 251 2.91e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206702
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the beta subunit of the 7S nerve growth factor (NGF) complex that is essential for the differentiation and survival of distinct populations of neurons in both the central and the peripheral nervous systems. The encoded preproprotein undergoes proteolytic processing to generate a functional, mature peptide. 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A G 13: 59,690,734 S95P probably benign Het
Abca6 T A 11: 110,218,217 H709L possibly damaging Het
BC051142 A G 17: 34,449,260 D168G possibly damaging Het
Bpifb1 A G 2: 154,218,252 Y455C probably benign Het
Clk1 G A 1: 58,414,404 T341I probably damaging Het
Corin A T 5: 72,454,487 Y77* probably null Het
Cps1 C T 1: 67,230,284 R1481C probably damaging Het
Cspg5 A G 9: 110,246,693 K166E probably benign Het
Dcxr A G 11: 120,725,758 probably null Het
Epha5 C A 5: 84,386,276 L65F probably damaging Het
Erbb4 T A 1: 68,328,245 K438* probably null Het
Gldc A T 19: 30,099,032 C1005S probably damaging Het
Hs3st5 C T 10: 36,833,051 T194I probably damaging Het
Hspa12a T A 19: 58,827,676 D45V probably benign Het
Il1rn C T 2: 24,349,539 T130I probably damaging Het
Lamp1 C T 8: 13,173,863 H332Y probably damaging Het
Limd2 T C 11: 106,159,044 T40A probably benign Het
Lztr1 G A 16: 17,522,391 probably null Het
Mbd4 T C 6: 115,849,530 T167A probably damaging Het
Mitf T A 6: 98,010,390 probably null Het
Mlph A G 1: 90,939,390 D378G probably damaging Het
Mrgprb5 A T 7: 48,168,384 L201Q probably damaging Het
Myo5b A T 18: 74,627,195 I261F probably damaging Het
Olfr1413 A T 1: 92,573,443 I91F probably benign Het
Olfr918 C T 9: 38,672,863 V207I probably benign Het
Paics T A 5: 76,956,731 L68I probably damaging Het
Pramef20 A G 4: 144,377,767 V56A probably damaging Het
Prkca C T 11: 107,961,602 V102M probably null Het
Ptpn21 G A 12: 98,715,189 T62I probably damaging Het
Ptpre A T 7: 135,664,999 E212V probably damaging Het
Rufy2 A C 10: 63,011,433 K539Q possibly damaging Het
Serpinb9d T A 13: 33,202,671 probably null Het
Smarcd1 T C 15: 99,712,213 F442L probably benign Het
Tas2r115 A G 6: 132,737,613 V125A probably damaging Het
Tmem154 C T 3: 84,684,590 H120Y probably benign Het
Tnrc6b A G 15: 80,902,622 K1321E possibly damaging Het
Trmt13 A G 3: 116,589,810 probably benign Het
Vmn1r19 T C 6: 57,404,872 F137L probably benign Het
Vmn1r202 T A 13: 22,501,462 T262S possibly damaging Het
Vmn2r57 A G 7: 41,399,946 V793A probably damaging Het
Wapl A G 14: 34,692,081 N300S probably damaging Het
Xpot T A 10: 121,590,222 probably null Het
Zfp784 G A 7: 5,036,037 probably benign Het
Zfyve26 G T 12: 79,287,851 P131Q probably benign Het
Other mutations in Klk1b22
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02189:Klk1b22 APN 7 44116206 splice site probably null
R1117:Klk1b22 UTSW 7 44116859 missense probably benign 0.00
R1480:Klk1b22 UTSW 7 44116854 missense possibly damaging 0.51
R1581:Klk1b22 UTSW 7 44115975 missense possibly damaging 0.72
R1793:Klk1b22 UTSW 7 44116351 splice site probably benign
R2935:Klk1b22 UTSW 7 44114722 missense probably benign 0.22
R5806:Klk1b22 UTSW 7 44115877 missense possibly damaging 0.90
R7278:Klk1b22 UTSW 7 44114749 missense probably benign 0.01
R7443:Klk1b22 UTSW 7 44116110 missense probably benign
R7646:Klk1b22 UTSW 7 44116118 splice site probably null
R7866:Klk1b22 UTSW 7 44112744 missense possibly damaging 0.76
Posted On2013-12-09