Incidental Mutation 'IGL02815:Gc'
ID 360791
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gc
Ensembl Gene ENSMUSG00000035540
Gene Name vitamin D binding protein
Synonyms DBP, vitamin D binding protein
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02815
Quality Score
Status
Chromosome 5
Chromosomal Location 89565381-89605757 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 89605518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049209]
AlphaFold P21614
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: 40,941,729 (GRCm39) I3F probably benign Het
Alms1 G A 6: 85,644,939 (GRCm39) probably null Het
Ap3m1 T C 14: 21,086,750 (GRCm39) D393G probably damaging Het
Arfgef3 T A 10: 18,528,299 (GRCm39) I363F probably damaging Het
Col19a1 T A 1: 24,324,332 (GRCm39) probably null Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Dnmt3a G A 12: 3,954,226 (GRCm39) probably null Het
Emc2 T A 15: 43,371,326 (GRCm39) probably benign Het
Epm2aip1 T C 9: 111,102,628 (GRCm39) S534P probably benign Het
Farp2 A C 1: 93,488,007 (GRCm39) N78T probably damaging Het
Fut8 T A 12: 77,411,857 (GRCm39) N106K probably benign Het
Gemin5 T C 11: 58,037,235 (GRCm39) Y660C probably damaging Het
Gfpt2 T A 11: 49,714,084 (GRCm39) D280E possibly damaging Het
Il16 T C 7: 83,300,249 (GRCm39) E348G probably damaging Het
Ints1 G A 5: 139,741,037 (GRCm39) T1874M probably damaging Het
Klrb1b A G 6: 128,797,937 (GRCm39) L52P probably damaging Het
Lamb3 A T 1: 193,007,863 (GRCm39) probably benign Het
Med17 A C 9: 15,173,563 (GRCm39) M637R probably damaging Het
Myo18b A G 5: 112,957,601 (GRCm39) L1454P probably damaging Het
Mysm1 A T 4: 94,845,285 (GRCm39) probably null Het
Naip5 T C 13: 100,359,239 (GRCm39) T666A probably benign Het
Nbas T A 12: 13,360,267 (GRCm39) S348T probably damaging Het
Pex1 A T 5: 3,686,797 (GRCm39) K1226M probably damaging Het
Pi4ka A G 16: 17,176,753 (GRCm39) probably benign Het
Pigr T A 1: 130,769,558 (GRCm39) V123D probably damaging Het
Pilra G A 5: 137,829,567 (GRCm39) P163S probably benign Het
Plekha4 T C 7: 45,187,836 (GRCm39) S303P probably damaging Het
Prrc2b A G 2: 32,094,265 (GRCm39) E549G probably damaging Het
Ptchd3 C T 11: 121,732,430 (GRCm39) S440L probably benign Het
Rock2 A G 12: 17,016,702 (GRCm39) probably benign Het
Scn1a A G 2: 66,155,202 (GRCm39) S586P probably damaging Het
Slc38a6 T A 12: 73,338,979 (GRCm39) H95Q probably damaging Het
Spata31d1d A T 13: 59,874,678 (GRCm39) N952K possibly damaging Het
Stard10 T A 7: 100,993,205 (GRCm39) C254S probably benign Het
Taar8a A T 10: 23,953,278 (GRCm39) Y294F probably benign Het
Tm7sf3 A T 6: 146,514,971 (GRCm39) probably null Het
Tnfrsf8 A T 4: 145,025,348 (GRCm39) V75D possibly damaging Het
Tor1aip1 C T 1: 155,911,662 (GRCm39) R107H probably damaging Het
Trpc4 C T 3: 54,206,695 (GRCm39) probably benign Het
Unc13c A G 9: 73,447,545 (GRCm39) L1885P possibly damaging Het
Vmn2r9 T C 5: 108,990,856 (GRCm39) D835G possibly damaging Het
Zfp462 A T 4: 55,051,303 (GRCm39) I1172F probably damaging Het
Other mutations in Gc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Gc APN 5 89,569,981 (GRCm39) splice site probably benign
IGL02408:Gc APN 5 89,593,255 (GRCm39) missense probably benign
R1689:Gc UTSW 5 89,589,059 (GRCm39) critical splice donor site probably null
R2067:Gc UTSW 5 89,594,376 (GRCm39) missense probably damaging 1.00
R2086:Gc UTSW 5 89,586,201 (GRCm39) missense probably damaging 1.00
R4212:Gc UTSW 5 89,583,434 (GRCm39) missense probably benign 0.01
R4459:Gc UTSW 5 89,589,146 (GRCm39) missense probably benign 0.00
R4930:Gc UTSW 5 89,587,448 (GRCm39) missense probably benign 0.00
R5598:Gc UTSW 5 89,586,309 (GRCm39) critical splice acceptor site probably null
R5768:Gc UTSW 5 89,589,125 (GRCm39) missense probably damaging 1.00
R6194:Gc UTSW 5 89,589,438 (GRCm39) missense probably benign 0.27
R6748:Gc UTSW 5 89,583,431 (GRCm39) missense probably benign 0.00
R8376:Gc UTSW 5 89,586,118 (GRCm39) nonsense probably null
R8743:Gc UTSW 5 89,591,311 (GRCm39) missense probably benign
R8984:Gc UTSW 5 89,589,421 (GRCm39) critical splice donor site probably null
R9102:Gc UTSW 5 89,591,444 (GRCm39) missense probably benign 0.05
R9114:Gc UTSW 5 89,593,165 (GRCm39) missense possibly damaging 0.76
R9200:Gc UTSW 5 89,593,236 (GRCm39) missense probably benign
Posted On 2015-12-18