Incidental Mutation 'IGL00392:Mep1b'
ID3380
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mep1b
Ensembl Gene ENSMUSG00000024313
Gene Namemeprin 1 beta
SynonymsMep-1b, meprin beta
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL00392
Quality Score
Status
Chromosome18
Chromosomal Location21072344-21100199 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 21084186 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 121 (K121*)
Ref Sequence ENSEMBL: ENSMUSP00000080866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082235]
Predicted Effect probably null
Transcript: ENSMUST00000082235
AA Change: K121*
SMART Domains Protein: ENSMUSP00000080866
Gene: ENSMUSG00000024313
AA Change: K121*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 30 42 N/A INTRINSIC
ZnMc 68 208 1.23e-54 SMART
MAM 261 430 1.91e-52 SMART
MATH 433 569 4.88e-8 SMART
EGF 610 647 2.35e-2 SMART
transmembrane domain 658 680 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Meprins are multidomain zinc metalloproteases that are highly expressed in mammalian kidney and intestinal brush border membranes, and in leukocytes and certain cancer cells. They are involved in the hydrolysis of a variety of peptide and protein substrates, and have been implicated in cancer and intestinal inflammation. Mature meprins are oligomers of evolutionarily related, but separately encoded alpha and/or beta subunits. Homooligomers of alpha subunit are secreted, whereas, oligomers containing the beta subunit are plasma membrane-bound. This gene encodes the beta subunit. Targeted disruption of this gene in mice affects embryonic viability, renal gene expression profiles, and distribution of the membrane-associated alpha subunit in kidney and intestine. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit 50% prenatal lethality; survivors have reduced birth weight and show altered renal gene expression, but otherwise are apparently normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik T G 19: 45,940,488 H389P probably benign Het
Alpk3 T C 7: 81,078,009 Y296H possibly damaging Het
Brca2 A G 5: 150,541,240 T1490A probably benign Het
Btaf1 A T 19: 37,009,702 D1732V probably damaging Het
Capzb T C 4: 139,288,947 I273T probably benign Het
Carmil1 G A 13: 24,094,491 T165I probably damaging Het
Cc2d2a A G 5: 43,724,380 probably benign Het
Ccdc173 T C 2: 69,771,984 H361R probably benign Het
Cdh22 A G 2: 165,112,601 Y667H possibly damaging Het
Celsr1 T A 15: 85,931,345 Q1823L probably benign Het
Cntrl T C 2: 35,137,814 probably benign Het
Dhx15 A T 5: 52,157,582 probably benign Het
Dip2c A T 13: 9,493,108 D30V probably damaging Het
Dyrk2 T C 10: 118,859,844 D503G probably damaging Het
Enpp1 T A 10: 24,645,427 I801F possibly damaging Het
Fnbp4 A C 2: 90,751,622 probably benign Het
Klk1b5 T A 7: 44,216,504 W2R probably benign Het
Lama2 T C 10: 27,188,265 K1240R probably benign Het
Matn2 A G 15: 34,402,856 N409S probably benign Het
Mettl26 T C 17: 25,876,124 probably null Het
Myh7 T C 14: 54,987,388 E574G probably damaging Het
Nfkbie G A 17: 45,560,213 probably null Het
Nlrc4 T C 17: 74,446,534 R285G probably benign Het
Pax8 T C 2: 24,443,132 Y66C probably damaging Het
Plxna2 A G 1: 194,800,568 D1523G probably damaging Het
Pou2f1 A G 1: 165,896,590 probably benign Het
Prom1 A G 5: 44,007,021 probably null Het
Ptk6 T C 2: 181,195,818 D436G probably benign Het
Robo4 T A 9: 37,408,229 F592I probably damaging Het
Sec24c C A 14: 20,693,203 S964R probably benign Het
Sgcb G T 5: 73,635,678 N260K possibly damaging Het
Smarcd2 T C 11: 106,265,904 D221G probably damaging Het
Unc13b C T 4: 43,240,285 R3569W probably damaging Het
Zfpl1 C A 19: 6,081,107 R285L possibly damaging Het
Other mutations in Mep1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01470:Mep1b APN 18 21097467 missense probably benign 0.26
IGL01866:Mep1b APN 18 21094993 missense probably benign 0.34
IGL02865:Mep1b APN 18 21093384 missense probably benign 0.02
IGL03093:Mep1b APN 18 21093653 missense probably benign 0.01
IGL03126:Mep1b APN 18 21088560 missense probably damaging 1.00
IGL03196:Mep1b APN 18 21095064 missense probably benign 0.01
P0022:Mep1b UTSW 18 21088541 splice site probably benign
R0143:Mep1b UTSW 18 21095107 splice site probably benign
R0743:Mep1b UTSW 18 21080458 missense possibly damaging 0.81
R0961:Mep1b UTSW 18 21088729 nonsense probably null
R1913:Mep1b UTSW 18 21093229 missense probably benign 0.21
R2162:Mep1b UTSW 18 21086239 missense possibly damaging 0.82
R2307:Mep1b UTSW 18 21088575 missense probably damaging 1.00
R3000:Mep1b UTSW 18 21093304 missense probably damaging 0.96
R3833:Mep1b UTSW 18 21086239 missense possibly damaging 0.82
R3862:Mep1b UTSW 18 21084169 missense possibly damaging 0.56
R3863:Mep1b UTSW 18 21084169 missense possibly damaging 0.56
R3864:Mep1b UTSW 18 21084169 missense possibly damaging 0.56
R4171:Mep1b UTSW 18 21095106 splice site probably null
R4774:Mep1b UTSW 18 21086184 missense probably benign 0.24
R4798:Mep1b UTSW 18 21093254 missense probably damaging 0.99
R5411:Mep1b UTSW 18 21086249 missense probably damaging 1.00
R6952:Mep1b UTSW 18 21088670 missense probably benign 0.00
R7056:Mep1b UTSW 18 21091190 missense probably damaging 1.00
R7078:Mep1b UTSW 18 21100051 missense probably benign 0.35
R7217:Mep1b UTSW 18 21093543 missense probably benign 0.01
Posted On2012-04-20