Incidental Mutation 'R8318:Klk1b4'
ID 641809
Institutional Source Beutler Lab
Gene Symbol Klk1b4
Ensembl Gene ENSMUSG00000066513
Gene Name kallikrein 1-related pepidase b4
Synonyms Ngfa, mGk-4, Ngfa
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R8318 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 44207435-44211754 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 44210911 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 150 (S150A)
Ref Sequence ENSEMBL: ENSMUSP00000076576 (fasta)
Gene Model predicted gene model for transcript(s): [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 possibly damaging
Transcript: ENSMUST00000077354
AA Change: S150A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513
AA Change: S150A

DomainStartEndE-ValueType
Tryp_SPc 10 248 5.88e-81 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 T C 8: 23,115,551 V1145A probably damaging Het
Ankrd35 G A 3: 96,684,722 V775M probably damaging Het
Ankrd63 C T 2: 118,703,240 V67M unknown Het
Arhgef5 T A 6: 43,275,999 probably null Het
Atp13a2 A T 4: 141,007,024 Q1152H probably benign Het
Carmil1 A G 13: 24,036,459 L1094P probably benign Het
Col7a1 G A 9: 108,958,374 A612T unknown Het
Csgalnact1 T C 8: 68,461,133 E140G probably damaging Het
Ddx18 G T 1: 121,566,087 A56D probably benign Het
Dixdc1 T C 9: 50,684,409 probably null Het
Dpys G A 15: 39,784,665 T498I probably benign Het
Ear6 A G 14: 51,854,265 I90V probably benign Het
Egr1 T C 18: 34,863,610 S482P probably damaging Het
Ehbp1 C T 11: 22,137,980 R393Q probably benign Het
Enpep A G 3: 129,270,337 I927T probably damaging Het
Ermard C T 17: 15,022,072 T406I possibly damaging Het
Etl4 T C 2: 20,788,530 S971P probably damaging Het
Fan1 C A 7: 64,350,055 V861F probably damaging Het
Fbp1 A G 13: 62,865,011 F328L probably benign Het
Fgd5 T A 6: 91,987,496 F237I probably benign Het
Fmn1 T C 2: 113,365,157 S401P unknown Het
Gabbr1 G A 17: 37,062,543 E444K probably benign Het
Htr3b C A 9: 48,964,877 probably benign Het
Ighv1-49 A G 12: 115,055,431 F48S probably damaging Het
Kcnh4 A G 11: 100,752,328 L371P probably damaging Het
Kcnk15 A G 2: 163,858,269 T143A probably damaging Het
Krt6a A T 15: 101,694,247 M1K probably null Het
Lama2 G A 10: 26,984,338 S3051L probably damaging Het
Lgals4 T C 7: 28,834,515 M38T probably benign Het
Mdn1 T C 4: 32,735,897 probably null Het
Mindy1 A G 3: 95,292,625 S246G probably damaging Het
Myo18a A G 11: 77,823,389 T770A probably benign Het
Olfr1221 T A 2: 89,111,898 I205F probably benign Het
Olfr1254 C T 2: 89,788,977 C125Y possibly damaging Het
Olfr270 T C 4: 52,971,104 V161A probably benign Het
Pcdhb19 T A 18: 37,497,946 S265T possibly damaging Het
Pcna T C 2: 132,251,428 Y133C probably damaging Het
Polr2b A G 5: 77,335,729 E684G probably benign Het
Pon2 T C 6: 5,265,425 I321V probably benign Het
Prss54 T A 8: 95,564,466 M169L probably damaging Het
Rps3 T A 7: 99,483,731 probably benign Het
Senp1 T C 15: 98,064,867 D312G probably damaging Het
Serpina10 T A 12: 103,616,848 T446S possibly damaging Het
Slc2a5 A G 4: 150,139,658 D241G possibly damaging Het
Slc7a11 A G 3: 50,417,986 probably null Het
Tgfbrap1 G C 1: 43,056,669 C536W probably damaging Het
Trip11 C T 12: 101,912,804 G9S unknown Het
Zfp626 C A 7: 27,818,245 T217K possibly damaging Het
Other mutations in Klk1b4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Klk1b4 APN 7 44211032 splice site probably benign
IGL00572:Klk1b4 APN 7 44210774 missense possibly damaging 0.79
IGL01314:Klk1b4 APN 7 44211176 critical splice donor site probably null
IGL02252:Klk1b4 APN 7 44210670 nonsense probably null
IGL03006:Klk1b4 APN 7 44211595 missense probably benign 0.08
R0255:Klk1b4 UTSW 7 44210734 missense probably benign 0.00
R0277:Klk1b4 UTSW 7 44211629 missense possibly damaging 0.78
R0931:Klk1b4 UTSW 7 44211056 missense probably damaging 1.00
R1718:Klk1b4 UTSW 7 44209672 missense probably damaging 1.00
R1777:Klk1b4 UTSW 7 44207451 start gained probably benign
R1894:Klk1b4 UTSW 7 44209630 missense probably benign
R1924:Klk1b4 UTSW 7 44209681 missense probably benign 0.00
R3979:Klk1b4 UTSW 7 44211593 missense probably damaging 1.00
R4044:Klk1b4 UTSW 7 44210755 missense probably benign 0.03
R5011:Klk1b4 UTSW 7 44211068 missense probably benign 0.01
R5013:Klk1b4 UTSW 7 44211068 missense probably benign 0.01
R5794:Klk1b4 UTSW 7 44209645 missense probably damaging 0.99
R7122:Klk1b4 UTSW 7 44211107 missense probably damaging 1.00
R7192:Klk1b4 UTSW 7 44209621 missense probably benign 0.44
R7595:Klk1b4 UTSW 7 44210708 missense probably benign
R8331:Klk1b4 UTSW 7 44211575 missense probably damaging 1.00
R8729:Klk1b4 UTSW 7 44207460 missense probably damaging 0.96
R9014:Klk1b4 UTSW 7 44209674 missense probably benign 0.06
R9576:Klk1b4 UTSW 7 44211053 missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TTCTGACCAACACCGGCTTG -3'
(R):5'- TTTGTCACAGTCCTCATTAGGC -3'

Sequencing Primer
(F):5'- GCTTGTCAGCAAAGCCATC -3'
(R):5'- TCACAGTCCTCATTAGGCAGGAG -3'
Posted On 2020-07-28