Incidental Mutation 'IGL02815:Gc'
ID360791
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gc
Ensembl Gene ENSMUSG00000035540
Gene Namevitamin D binding protein
SynonymsDBP, vitamin D binding protein
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02815
Quality Score
Status
Chromosome5
Chromosomal Location89417522-89457898 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 89457659 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049209]
Predicted Effect probably null
Transcript: ENSMUST00000049209
SMART Domains Protein: ENSMUSP00000046636
Gene: ENSMUSG00000035540

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
ALBUMIN 17 202 6.82e-68 SMART
ALBUMIN 208 388 1.51e-51 SMART
Pfam:VitD-bind_III 405 469 7.2e-36 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for disruption of this gene show an essentially normal phenotype. However, they have an increased sensitivity to vitamin D deficiency in the diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik A T 6: 40,964,795 I3F probably benign Het
Alms1 G A 6: 85,667,957 probably null Het
Ap3m1 T C 14: 21,036,682 D393G probably damaging Het
Arfgef3 T A 10: 18,652,551 I363F probably damaging Het
Col19a1 T A 1: 24,285,251 probably null Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dnmt3a G A 12: 3,904,226 probably null Het
Emc2 T A 15: 43,507,930 probably benign Het
Epm2aip1 T C 9: 111,273,560 S534P probably benign Het
Farp2 A C 1: 93,560,285 N78T probably damaging Het
Fut8 T A 12: 77,365,083 N106K probably benign Het
Gemin5 T C 11: 58,146,409 Y660C probably damaging Het
Gfpt2 T A 11: 49,823,257 D280E possibly damaging Het
Il16 T C 7: 83,651,041 E348G probably damaging Het
Ints1 G A 5: 139,755,282 T1874M probably damaging Het
Klrb1b A G 6: 128,820,974 L52P probably damaging Het
Lamb3 A T 1: 193,325,555 probably benign Het
Med17 A C 9: 15,262,267 M637R probably damaging Het
Myo18b A G 5: 112,809,735 L1454P probably damaging Het
Mysm1 A T 4: 94,957,048 probably null Het
Naip5 T C 13: 100,222,731 T666A probably benign Het
Nbas T A 12: 13,310,266 S348T probably damaging Het
Pex1 A T 5: 3,636,797 K1226M probably damaging Het
Pi4ka A G 16: 17,358,889 probably benign Het
Pigr T A 1: 130,841,821 V123D probably damaging Het
Pilra G A 5: 137,831,305 P163S probably benign Het
Plekha4 T C 7: 45,538,412 S303P probably damaging Het
Prrc2b A G 2: 32,204,253 E549G probably damaging Het
Ptchd3 C T 11: 121,841,604 S440L probably benign Het
Rock2 A G 12: 16,966,701 probably benign Het
Scn1a A G 2: 66,324,858 S586P probably damaging Het
Slc38a6 T A 12: 73,292,205 H95Q probably damaging Het
Spata31d1d A T 13: 59,726,864 N952K possibly damaging Het
Stard10 T A 7: 101,343,998 C254S probably benign Het
Taar8a A T 10: 24,077,380 Y294F probably benign Het
Tm7sf3 A T 6: 146,613,473 probably null Het
Tnfrsf8 A T 4: 145,298,778 V75D possibly damaging Het
Tor1aip1 C T 1: 156,035,916 R107H probably damaging Het
Trpc4 C T 3: 54,299,274 probably benign Het
Unc13c A G 9: 73,540,263 L1885P possibly damaging Het
Vmn2r9 T C 5: 108,842,990 D835G possibly damaging Het
Zfp462 A T 4: 55,051,303 I1172F probably damaging Het
Other mutations in Gc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Gc APN 5 89422122 splice site probably benign
IGL02408:Gc APN 5 89445396 missense probably benign
R1689:Gc UTSW 5 89441200 critical splice donor site probably null
R2067:Gc UTSW 5 89446517 missense probably damaging 1.00
R2086:Gc UTSW 5 89438342 missense probably damaging 1.00
R4212:Gc UTSW 5 89435575 missense probably benign 0.01
R4459:Gc UTSW 5 89441287 missense probably benign 0.00
R4930:Gc UTSW 5 89439589 missense probably benign 0.00
R5598:Gc UTSW 5 89438450 critical splice acceptor site probably null
R5768:Gc UTSW 5 89441266 missense probably damaging 1.00
R6194:Gc UTSW 5 89441579 missense probably benign 0.27
R6748:Gc UTSW 5 89435572 missense probably benign 0.00
R8376:Gc UTSW 5 89438259 nonsense probably null
Posted On2015-12-18