Incidental Mutation 'IGL03006:Klk1b4'
ID 407535
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 # IGL03006
Quality Score
Status
Chromosome 7
Chromosomal Location 43856859-43861178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43861019 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 221 (I221V)
Ref Sequence ENSEMBL: ENSMUSP00000076576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074359] [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 benign
Transcript: ENSMUST00000077354
AA Change: I221V

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000076576
Gene: ENSMUSG00000066513
AA Change: I221V

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T A 11: 109,718,671 (GRCm39) S21C probably damaging Het
2210408I21Rik T C 13: 77,471,891 (GRCm39) probably null Het
Abcc3 T C 11: 94,259,421 (GRCm39) D340G probably benign Het
Adamts17 G T 7: 66,728,095 (GRCm39) R879L possibly damaging Het
Adissp A C 2: 130,993,634 (GRCm39) D22E probably damaging Het
Cacna1f C A X: 7,493,142 (GRCm39) T1275K probably damaging Het
Csmd2 T A 4: 128,374,558 (GRCm39) probably benign Het
Dll1 C T 17: 15,593,854 (GRCm39) R171Q probably benign Het
Dnm1 T A 2: 32,243,133 (GRCm39) D30V possibly damaging Het
Fam184a G A 10: 53,574,793 (GRCm39) S216L probably damaging Het
Fbxo33 G A 12: 59,251,105 (GRCm39) A470V probably benign Het
Gm6401 C T 14: 41,788,851 (GRCm39) E73K possibly damaging Het
Ighv7-1 A T 12: 113,860,145 (GRCm39) S82R probably damaging Het
Lama3 T C 18: 12,601,425 (GRCm39) probably benign Het
Lrch1 A G 14: 75,051,060 (GRCm39) L359P probably damaging Het
Mapk8ip3 T C 17: 25,120,489 (GRCm39) T882A probably benign Het
Med12 C T X: 100,321,684 (GRCm39) R456W probably damaging Het
Mms22l T C 4: 24,521,253 (GRCm39) S267P probably damaging Het
Mtpap G A 18: 4,375,721 (GRCm39) G34R possibly damaging Het
Nf1 G A 11: 79,436,257 (GRCm39) D1966N probably damaging Het
Nlrp9c G A 7: 26,071,507 (GRCm39) T867I probably damaging Het
Nrap C T 19: 56,335,596 (GRCm39) V941I probably benign Het
Or5k1b T A 16: 58,581,511 (GRCm39) K9N probably benign Het
Pcdh10 A G 3: 45,333,937 (GRCm39) I84V probably damaging Het
Polr3d T A 14: 70,678,603 (GRCm39) probably null Het
Prkar2a G T 9: 108,617,640 (GRCm39) V233L probably benign Het
Prl4a1 T C 13: 28,207,359 (GRCm39) V211A probably damaging Het
Qpct T C 17: 79,378,151 (GRCm39) V107A probably benign Het
Rai1 T C 11: 60,079,031 (GRCm39) S1032P possibly damaging Het
Rims1 G T 1: 22,367,178 (GRCm39) T1113K probably damaging Het
Rxra C T 2: 27,649,657 (GRCm39) T454I probably damaging Het
S100z T C 13: 95,615,127 (GRCm39) I13V probably damaging Het
Scp2 T C 4: 107,948,477 (GRCm39) K167E probably benign Het
Sephs2 A G 7: 126,872,206 (GRCm39) F296L probably benign Het
Setd1b A G 5: 123,286,514 (GRCm39) E520G unknown Het
Slc28a2 G A 2: 122,283,019 (GRCm39) V308M possibly damaging Het
Smarcad1 T A 6: 65,060,873 (GRCm39) I451K probably benign Het
Tarbp1 C T 8: 127,170,881 (GRCm39) D1040N probably damaging Het
Tdrd6 T C 17: 43,936,323 (GRCm39) D1575G probably damaging Het
Tll1 T A 8: 64,527,251 (GRCm39) probably benign Het
Tsks A T 7: 44,600,198 (GRCm39) probably benign Het
Ttc1 A T 11: 43,636,147 (GRCm39) M32K probably benign Het
Txlnb C T 10: 17,714,723 (GRCm39) A385V probably damaging Het
Zc4h2 T C X: 94,687,019 (GRCm39) H98R 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
IGL01314:Klk1b4 APN 7 43,860,600 (GRCm39) critical splice donor site probably null
IGL02252:Klk1b4 APN 7 43,860,094 (GRCm39) nonsense probably null
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 2016-08-02