Incidental Mutation 'IGL01314:Klk1b4'
ID 73805
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk1b4
Ensembl Gene ENSMUSG00000066513
Gene Name kallikrein 1-related pepidase b4
Synonyms Ngfa, Ngfa, mGk-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL01314
Quality Score
Status
Chromosome 7
Chromosomal Location 43856859-43861178 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 43860600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074359] [ENSMUST00000077354] [ENSMUST00000077354]
AlphaFold P00757
PDB Structure CRYSTAL STRUCTURE OF 7S NGF: A COMPLEX OF NERVE GROWTH FACTOR WITH FOUR BINDING PROTEINS (SERINE PROTEINASES) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000074359
SMART Domains Protein: ENSMUSP00000073964
Gene: ENSMUSG00000066512

DomainStartEndE-ValueType
Tryp_SPc 24 253 1.49e-100 SMART
Predicted Effect probably null
Transcript: ENSMUST00000077354
SMART Domains Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513

DomainStartEndE-ValueType
Tryp_SPc 10 248 5.88e-81 SMART
Predicted Effect probably null
Transcript: ENSMUST00000077354
SMART Domains Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513

DomainStartEndE-ValueType
Tryp_SPc 10 248 5.88e-81 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206046
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the alpha 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. 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,071,939 (GRCm39) A161V probably benign Het
Bptf A T 11: 106,945,679 (GRCm39) V2520E probably damaging Het
C87436 T C 6: 86,434,837 (GRCm39) F395S probably damaging Het
Capn1 T C 19: 6,040,014 (GRCm39) probably benign Het
Ceacam5 T A 7: 17,481,181 (GRCm39) Y309* probably null Het
Clasp2 A G 9: 113,735,195 (GRCm39) D1011G possibly damaging Het
Csmd3 A G 15: 47,713,151 (GRCm39) Y1608H probably damaging Het
Dcaf1 T C 9: 106,711,390 (GRCm39) I77T probably benign Het
Dcdc2a T C 13: 25,286,587 (GRCm39) L170P probably damaging Het
Ddx28 A G 8: 106,737,212 (GRCm39) F282S probably damaging Het
Egf A G 3: 129,479,909 (GRCm39) I497T probably benign Het
Emsy A G 7: 98,242,662 (GRCm39) V1159A probably benign Het
Hk3 C A 13: 55,154,876 (GRCm39) probably benign Het
Htt A G 5: 35,036,200 (GRCm39) D2049G probably benign Het
Inpp5d C A 1: 87,611,472 (GRCm39) S45* probably null Het
Irf8 A G 8: 121,480,119 (GRCm39) Y119C probably damaging Het
Macf1 A G 4: 123,380,513 (GRCm39) S1273P probably damaging Het
Man2c1 A T 9: 57,049,103 (GRCm39) H867L probably benign Het
Mgat4e T C 1: 134,469,187 (GRCm39) T286A probably damaging Het
Mug2 T C 6: 122,058,238 (GRCm39) F1267L possibly damaging Het
Necab1 T A 4: 15,005,079 (GRCm39) E128D probably damaging Het
Or10ak9 G A 4: 118,726,328 (GRCm39) V117I probably benign Het
Pds5a A G 5: 65,772,637 (GRCm39) V1322A probably benign Het
Poc1b C T 10: 98,965,503 (GRCm39) T144I probably damaging Het
Prcc T A 3: 87,777,387 (GRCm39) N196Y probably damaging Het
Psma5 G A 3: 108,187,111 (GRCm39) V237M possibly damaging Het
Rap1gds1 A G 3: 138,756,322 (GRCm39) L11P probably damaging Het
Rapgef3 A G 15: 97,646,104 (GRCm39) F132S probably damaging Het
Rgs13 T G 1: 144,047,179 (GRCm39) D14A probably benign Het
Rlig1 A C 10: 100,409,473 (GRCm39) D313E probably damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tcerg1 C A 18: 42,706,374 (GRCm39) A1017D probably damaging Het
Tent5c T C 3: 100,380,490 (GRCm39) K89E probably benign Het
Tmem79 T C 3: 88,239,883 (GRCm39) I276V possibly damaging Het
Tmem94 C A 11: 115,680,835 (GRCm39) H113N probably damaging Het
Vil1 G A 1: 74,467,397 (GRCm39) D715N probably damaging Het
Vmn2r96 A G 17: 18,803,226 (GRCm39) T187A probably benign Het
Zfhx4 T A 3: 5,478,154 (GRCm39) S3590T probably damaging Het
Other mutations in Klk1b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Klk1b4 APN 7 43,860,456 (GRCm39) splice site probably benign
IGL00572:Klk1b4 APN 7 43,860,198 (GRCm39) missense possibly damaging 0.79
IGL02252:Klk1b4 APN 7 43,860,094 (GRCm39) nonsense probably null
IGL03006:Klk1b4 APN 7 43,861,019 (GRCm39) missense probably benign 0.08
R0255:Klk1b4 UTSW 7 43,860,158 (GRCm39) missense probably benign 0.00
R0277:Klk1b4 UTSW 7 43,861,053 (GRCm39) missense possibly damaging 0.78
R0931:Klk1b4 UTSW 7 43,860,480 (GRCm39) missense probably damaging 1.00
R1718:Klk1b4 UTSW 7 43,859,096 (GRCm39) missense probably damaging 1.00
R1777:Klk1b4 UTSW 7 43,856,875 (GRCm39) start gained probably benign
R1894:Klk1b4 UTSW 7 43,859,054 (GRCm39) missense probably benign
R1924:Klk1b4 UTSW 7 43,859,105 (GRCm39) missense probably benign 0.00
R3979:Klk1b4 UTSW 7 43,861,017 (GRCm39) missense probably damaging 1.00
R4044:Klk1b4 UTSW 7 43,860,179 (GRCm39) missense probably benign 0.03
R5011:Klk1b4 UTSW 7 43,860,492 (GRCm39) missense probably benign 0.01
R5013:Klk1b4 UTSW 7 43,860,492 (GRCm39) missense probably benign 0.01
R5794:Klk1b4 UTSW 7 43,859,069 (GRCm39) missense probably damaging 0.99
R7122:Klk1b4 UTSW 7 43,860,531 (GRCm39) missense probably damaging 1.00
R7192:Klk1b4 UTSW 7 43,859,045 (GRCm39) missense probably benign 0.44
R7595:Klk1b4 UTSW 7 43,860,132 (GRCm39) missense probably benign
R8318:Klk1b4 UTSW 7 43,860,335 (GRCm39) missense possibly damaging 0.92
R8331:Klk1b4 UTSW 7 43,860,999 (GRCm39) missense probably damaging 1.00
R8729:Klk1b4 UTSW 7 43,856,884 (GRCm39) missense probably damaging 0.96
R9014:Klk1b4 UTSW 7 43,859,098 (GRCm39) missense probably benign 0.06
R9576:Klk1b4 UTSW 7 43,860,477 (GRCm39) missense probably benign 0.19
Posted On 2013-10-07