Incidental Mutation 'IGL02408:Gc'
ID 292195
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 # IGL02408
Quality Score
Status
Chromosome 5
Chromosomal Location 89565381-89605757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89593255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 55 (S55G)
Ref Sequence ENSEMBL: ENSMUSP00000046636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049209]
AlphaFold P21614
Predicted Effect probably benign
Transcript: ENSMUST00000049209
AA Change: S55G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046636
Gene: ENSMUSG00000035540
AA Change: S55G

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,621,130 (GRCm39) Y278C probably damaging Het
Abcd2 A G 15: 91,062,444 (GRCm39) L498P possibly damaging Het
Acot11 A G 4: 106,615,578 (GRCm39) F271S probably damaging Het
Acr T A 15: 89,454,217 (GRCm39) Y185N probably damaging Het
Adcy10 C T 1: 165,365,949 (GRCm39) R489C probably damaging Het
Arsb A G 13: 93,930,670 (GRCm39) T213A probably benign Het
Atg2a T A 19: 6,291,858 (GRCm39) C11* probably null Het
B3galt6 A T 4: 156,076,152 (GRCm39) Y308N probably damaging Het
Cd226 A G 18: 89,225,451 (GRCm39) N116S probably benign Het
Crat T A 2: 30,297,146 (GRCm39) D269V probably damaging Het
Crim1 T A 17: 78,623,083 (GRCm39) I427N possibly damaging Het
Dock3 T C 9: 106,790,298 (GRCm39) probably benign Het
Dsg1c T A 18: 20,407,776 (GRCm39) V374E probably damaging Het
Dtl A G 1: 191,273,352 (GRCm39) S519P probably benign Het
Fastkd1 C T 2: 69,532,945 (GRCm39) R474H probably benign Het
Fbxo10 T C 4: 45,058,361 (GRCm39) T459A possibly damaging Het
Frmd4b A G 6: 97,272,770 (GRCm39) L828P probably damaging Het
Gm6455 T G 5: 10,917,257 (GRCm39) noncoding transcript Het
Gnai2 T C 9: 107,493,393 (GRCm39) T280A probably benign Het
Hmgn2 A G 4: 133,693,260 (GRCm39) probably null Het
Jmjd1c G T 10: 67,062,161 (GRCm39) A1505S probably benign Het
Lrriq1 T C 10: 102,982,142 (GRCm39) K1393E probably benign Het
Mcam A G 9: 44,051,547 (GRCm39) N469D probably benign Het
Mrpl47 A G 3: 32,790,789 (GRCm39) probably null Het
Mslnl C T 17: 25,966,972 (GRCm39) A659V possibly damaging Het
Nlrp1a A G 11: 71,013,456 (GRCm39) V598A probably benign Het
Npff A T 15: 102,433,000 (GRCm39) L15Q probably null Het
Obsl1 G T 1: 75,481,890 (GRCm39) Q327K probably damaging Het
Or13a18 T C 7: 140,190,844 (GRCm39) V255A probably damaging Het
Or4c58 T A 2: 89,675,315 (GRCm39) M1L probably benign Het
Or52s1b T C 7: 102,822,658 (GRCm39) Y62C probably damaging Het
Or7e165 A T 9: 19,694,711 (GRCm39) Y94F probably benign Het
Or8b50 G A 9: 38,518,417 (GRCm39) G219S possibly damaging Het
Pdzd2 T A 15: 12,375,851 (GRCm39) H1428L probably benign Het
Phldb1 T C 9: 44,627,203 (GRCm39) E414G possibly damaging Het
Reln T C 5: 22,106,617 (GRCm39) D3251G probably benign Het
Secisbp2l G T 2: 125,582,789 (GRCm39) S889* probably null Het
Setx T A 2: 29,023,942 (GRCm39) C133S probably damaging Het
Slc22a29 A C 19: 8,184,649 (GRCm39) S214A probably benign Het
Slc30a5 A C 13: 100,950,232 (GRCm39) L285R probably damaging Het
Taar7a T G 10: 23,868,500 (GRCm39) I294L probably benign Het
Tfap2b T A 1: 19,304,485 (GRCm39) F414I probably damaging Het
Trpc4ap A T 2: 155,512,989 (GRCm39) Y129N possibly damaging Het
Vmn2r94 T C 17: 18,473,523 (GRCm39) E501G probably benign Het
Xpot T C 10: 121,439,070 (GRCm39) H709R probably damaging Het
Zfhx3 T A 8: 109,682,004 (GRCm39) probably benign Het
Zscan22 T G 7: 12,640,426 (GRCm39) H223Q probably benign Het
Other mutations in Gc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01963:Gc APN 5 89,569,981 (GRCm39) splice site probably benign
IGL02815:Gc APN 5 89,605,518 (GRCm39) critical splice donor site probably null
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 2015-04-16