Incidental Mutation 'IGL03093:Mep1b'
ID 418457
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mep1b
Ensembl Gene ENSMUSG00000024313
Gene Name meprin 1 beta
Synonyms Mep-1b, meprin beta
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # IGL03093
Quality Score
Status
Chromosome 18
Chromosomal Location 21205401-21233256 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 21226710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 524 (T524M)
Ref Sequence ENSEMBL: ENSMUSP00000080866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082235]
AlphaFold Q61847
Predicted Effect probably benign
Transcript: ENSMUST00000082235
AA Change: T524M

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000080866
Gene: ENSMUSG00000024313
AA Change: T524M

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 A G 19: 53,219,638 (GRCm39) D121G probably damaging Het
Cacna1s A G 1: 136,043,802 (GRCm39) D1380G probably benign Het
Clca3a1 T C 3: 144,453,262 (GRCm39) Y487C probably damaging Het
Coro2a A G 4: 46,544,158 (GRCm39) S278P possibly damaging Het
Creb3l3 A G 10: 80,927,047 (GRCm39) S128P probably benign Het
Dab2 A G 15: 6,465,892 (GRCm39) R697G probably damaging Het
Erap1 T C 13: 74,823,399 (GRCm39) F811S probably benign Het
Fam170b A G 14: 32,557,482 (GRCm39) S106G probably damaging Het
Galk2 T C 2: 125,771,563 (GRCm39) L196P probably damaging Het
Gan T C 8: 117,910,314 (GRCm39) M81T probably benign Het
Gemin2 A G 12: 59,068,511 (GRCm39) T197A probably benign Het
Hemgn A T 4: 46,396,504 (GRCm39) M244K probably benign Het
Htr6 A G 4: 138,789,080 (GRCm39) F325S probably damaging Het
Igkv9-120 A G 6: 68,027,398 (GRCm39) D104G probably damaging Het
Itpr2 A C 6: 146,281,008 (GRCm39) I216S probably damaging Het
Lingo1 T C 9: 56,526,748 (GRCm39) I614V possibly damaging Het
Mtif2 A G 11: 29,480,702 (GRCm39) probably benign Het
Mylk G A 16: 34,732,562 (GRCm39) R614H possibly damaging Het
Or2ag2 T C 7: 106,485,410 (GRCm39) T205A probably benign Het
Or52s19 T C 7: 103,007,446 (GRCm39) probably benign Het
Pabpc4 G A 4: 123,180,502 (GRCm39) D75N probably damaging Het
Paics T A 5: 77,109,355 (GRCm39) probably null Het
Prl T A 13: 27,248,870 (GRCm39) I172N probably benign Het
Ripk2 A G 4: 16,152,056 (GRCm39) S168P probably damaging Het
Siglecf T C 7: 43,001,865 (GRCm39) V225A probably damaging Het
Slc36a1 A G 11: 55,110,430 (GRCm39) I86V probably benign Het
Slc6a13 A G 6: 121,309,407 (GRCm39) Y306C probably damaging Het
Soat2 T A 15: 102,066,078 (GRCm39) L250Q probably damaging Het
Tex38 A G 4: 115,637,762 (GRCm39) S14P probably damaging Het
Tm2d1 A T 4: 98,268,921 (GRCm39) C59S possibly damaging Het
Tmco1 A G 1: 167,143,848 (GRCm39) D82G probably damaging Het
Tmem245 G A 4: 56,886,019 (GRCm39) R866W probably damaging Het
Tnip1 G T 11: 54,831,652 (GRCm39) Y7* probably null Het
Trp73 A G 4: 154,189,330 (GRCm39) M48T probably benign Het
Tslp T C 18: 32,948,612 (GRCm39) probably benign Het
Usp47 T C 7: 111,688,827 (GRCm39) F745L probably damaging Het
Vmn2r53 T A 7: 12,334,791 (GRCm39) T290S probably benign Het
Wdr1 T C 5: 38,718,472 (GRCm39) D30G probably benign Het
Zkscan2 T C 7: 123,094,073 (GRCm39) Y247C probably benign Het
Other mutations in Mep1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00392:Mep1b APN 18 21,217,243 (GRCm39) nonsense probably null
IGL01470:Mep1b APN 18 21,230,524 (GRCm39) missense probably benign 0.26
IGL01866:Mep1b APN 18 21,228,050 (GRCm39) missense probably benign 0.34
IGL02865:Mep1b APN 18 21,226,441 (GRCm39) missense probably benign 0.02
IGL03126:Mep1b APN 18 21,221,617 (GRCm39) missense probably damaging 1.00
IGL03196:Mep1b APN 18 21,228,121 (GRCm39) missense probably benign 0.01
P0022:Mep1b UTSW 18 21,221,598 (GRCm39) splice site probably benign
R0143:Mep1b UTSW 18 21,228,164 (GRCm39) splice site probably benign
R0743:Mep1b UTSW 18 21,213,515 (GRCm39) missense possibly damaging 0.81
R0961:Mep1b UTSW 18 21,221,786 (GRCm39) nonsense probably null
R1913:Mep1b UTSW 18 21,226,286 (GRCm39) missense probably benign 0.21
R2162:Mep1b UTSW 18 21,219,296 (GRCm39) missense possibly damaging 0.82
R2307:Mep1b UTSW 18 21,221,632 (GRCm39) missense probably damaging 1.00
R3000:Mep1b UTSW 18 21,226,361 (GRCm39) missense probably damaging 0.96
R3833:Mep1b UTSW 18 21,219,296 (GRCm39) missense possibly damaging 0.82
R3862:Mep1b UTSW 18 21,217,226 (GRCm39) missense possibly damaging 0.56
R3863:Mep1b UTSW 18 21,217,226 (GRCm39) missense possibly damaging 0.56
R3864:Mep1b UTSW 18 21,217,226 (GRCm39) missense possibly damaging 0.56
R4171:Mep1b UTSW 18 21,228,163 (GRCm39) splice site probably null
R4774:Mep1b UTSW 18 21,219,241 (GRCm39) missense probably benign 0.24
R4798:Mep1b UTSW 18 21,226,311 (GRCm39) missense probably damaging 0.99
R5411:Mep1b UTSW 18 21,219,306 (GRCm39) missense probably damaging 1.00
R6952:Mep1b UTSW 18 21,221,727 (GRCm39) missense probably benign 0.00
R7056:Mep1b UTSW 18 21,224,247 (GRCm39) missense probably damaging 1.00
R7078:Mep1b UTSW 18 21,233,108 (GRCm39) missense probably benign 0.35
R7217:Mep1b UTSW 18 21,226,600 (GRCm39) missense probably benign 0.01
R7641:Mep1b UTSW 18 21,228,034 (GRCm39) missense possibly damaging 0.47
R7843:Mep1b UTSW 18 21,228,110 (GRCm39) missense probably damaging 1.00
R8103:Mep1b UTSW 18 21,222,442 (GRCm39) missense possibly damaging 0.56
R8794:Mep1b UTSW 18 21,224,325 (GRCm39) missense probably damaging 0.96
R8845:Mep1b UTSW 18 21,230,379 (GRCm39) nonsense probably null
R8877:Mep1b UTSW 18 21,221,630 (GRCm39) missense possibly damaging 0.72
R8975:Mep1b UTSW 18 21,208,714 (GRCm39) missense probably benign 0.17
R9352:Mep1b UTSW 18 21,209,431 (GRCm39) missense probably damaging 1.00
R9448:Mep1b UTSW 18 21,217,199 (GRCm39) missense probably damaging 1.00
R9782:Mep1b UTSW 18 21,208,720 (GRCm39) missense possibly damaging 0.75
Posted On 2016-08-02