Incidental Mutation 'IGL01778:Reg3g'
ID153752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Reg3g
Ensembl Gene ENSMUSG00000030017
Gene Nameregenerating islet-derived 3 gamma
SynonymsRegIII (gamma)
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.045) question?
Stock #IGL01778
Quality Score
Status
Chromosome6
Chromosomal Location78466269-78468872 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 78466833 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 131 (I131F)
Ref Sequence ENSEMBL: ENSMUSP00000032089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032089]
Predicted Effect probably benign
Transcript: ENSMUST00000032089
AA Change: I131F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032089
Gene: ENSMUSG00000030017
AA Change: I131F

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
CLECT 40 171 1.79e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176650
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a C-type lectin that demonstrates bactericidal activity. This gene is predominantly expressed in the distal small intestine where the encoded protein undergoes proteolytic processing by trypsin. Mice lacking the encoded protein exhibit altered mucus distribution, increased bacterial contact with the epithelium, and elevated inflammatory markers in the ileum, and low-grade inflammation. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a knock-out allele eshibit increased mucosal bacterial loads, T-helper 1 cells, and intestinal permeability. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T C 4: 154,666,705 K325E probably benign Het
Arc C T 15: 74,672,355 M6I probably benign Het
Atp7b A T 8: 21,994,828 D1404E probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk5rap1 T A 2: 154,366,036 N156I probably damaging Het
Ctsa T C 2: 164,834,310 probably benign Het
Depdc1b T G 13: 108,362,327 N181K probably benign Het
Epg5 T C 18: 78,019,274 V1994A probably damaging Het
Epyc T A 10: 97,681,237 C312* probably null Het
Erv3 T A 2: 131,855,957 R161* probably null Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gfra3 T C 18: 34,691,591 T280A possibly damaging Het
Gldn A T 9: 54,334,492 probably null Het
Gm6768 T C 12: 119,262,496 noncoding transcript Het
Gtf3c4 G A 2: 28,835,088 R211C probably damaging Het
Hsh2d A G 8: 72,193,507 D16G probably damaging Het
Klk15 T A 7: 43,938,838 M190K probably damaging Het
Klri1 A G 6: 129,717,047 S26P possibly damaging Het
Krt78 T A 15: 101,950,967 D265V probably damaging Het
Lgr5 A C 10: 115,462,702 I355S probably damaging Het
Lig3 T A 11: 82,794,541 V595D probably damaging Het
Map2k6 A C 11: 110,512,869 probably benign Het
Mdm4 A G 1: 132,994,547 S286P probably benign Het
Olfr320 A G 11: 58,684,269 Y132C probably damaging Het
Pofut1 T A 2: 153,248,528 M114K probably damaging Het
Rdh13 C T 7: 4,430,389 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc8a2 T A 7: 16,158,893 F827I probably damaging Het
Slfn9 A T 11: 82,987,374 C310S probably damaging Het
Sypl A G 12: 32,975,642 Y235C probably damaging Het
Trav7-4 A T 14: 53,461,641 T82S possibly damaging Het
Trim28 T A 7: 13,030,702 V782D probably damaging Het
Ttn G A 2: 76,744,898 T25217M probably damaging Het
Usp6nl A G 2: 6,427,570 T260A possibly damaging Het
Vmn2r54 A T 7: 12,632,082 N308K probably benign Het
Xdh T C 17: 73,900,280 E986G probably benign Het
Zfp770 T C 2: 114,196,238 D450G probably damaging Het
Zw10 T G 9: 49,069,615 S438R probably benign Het
Other mutations in Reg3g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Reg3g APN 6 78466779 missense probably benign
R0389:Reg3g UTSW 6 78468561 start codon destroyed probably null 1.00
R0513:Reg3g UTSW 6 78467844 nonsense probably null
R0562:Reg3g UTSW 6 78467488 missense possibly damaging 0.91
R1872:Reg3g UTSW 6 78467853 nonsense probably null
R2402:Reg3g UTSW 6 78467492 missense probably damaging 1.00
R4896:Reg3g UTSW 6 78467810 missense probably benign
R5113:Reg3g UTSW 6 78466561 splice site probably null
Posted On2014-02-04