Incidental Mutation 'IGL02212:Shbg'
ID285523
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Shbg
Ensembl Gene ENSMUSG00000005202
Gene Namesex hormone binding globulin
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.653) question?
Stock #IGL02212
Quality Score
Status
Chromosome11
Chromosomal Location69614804-69617905 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69617209 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 110 (L110P)
Ref Sequence ENSEMBL: ENSMUSP00000005334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005334] [ENSMUST00000092969] [ENSMUST00000108656]
Predicted Effect probably damaging
Transcript: ENSMUST00000005334
AA Change: L110P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005334
Gene: ENSMUSG00000005202
AA Change: L110P

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
LamG 68 203 2.59e-21 SMART
LamG 249 372 7.71e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000092969
SMART Domains Protein: ENSMUSP00000090647
Gene: ENSMUSG00000069835

DomainStartEndE-ValueType
Pfam:Acetyltransf_10 13 144 1.4e-8 PFAM
Pfam:Acetyltransf_7 63 145 3e-11 PFAM
Pfam:Acetyltransf_1 66 146 2.2e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108656
SMART Domains Protein: ENSMUSP00000104296
Gene: ENSMUSG00000069835

DomainStartEndE-ValueType
Pfam:Acetyltransf_7 53 144 3.2e-10 PFAM
Pfam:Acetyltransf_1 65 146 5e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151255
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,248,889 D1079V probably damaging Het
Adam18 T C 8: 24,637,179 H467R probably benign Het
Ambra1 T G 2: 91,917,361 D1056E probably damaging Het
Aoah A C 13: 21,002,901 N456T probably benign Het
Batf2 T A 19: 6,171,961 F267Y probably damaging Het
Bbs7 C T 3: 36,594,409 V397I probably benign Het
Bbs9 T A 9: 22,812,512 D824E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Brip1 A T 11: 86,139,015 V601E possibly damaging Het
Bub1 A G 2: 127,805,351 F773L probably damaging Het
Cadps A T 14: 12,522,345 D606E possibly damaging Het
Cenps T G 4: 149,128,846 D54A probably damaging Het
Cep170 T A 1: 176,735,936 N1504I probably damaging Het
Cttnbp2 A G 6: 18,382,749 V1340A possibly damaging Het
D630003M21Rik A T 2: 158,210,171 S667T probably benign Het
Dgkb A G 12: 38,139,414 Y272C probably damaging Het
Dlx3 A G 11: 95,120,641 D107G probably benign Het
Drd3 A T 16: 43,762,312 N56I probably benign Het
Elavl4 T A 4: 110,206,412 I331F probably damaging Het
Fam167a T G 14: 63,462,629 S213A probably damaging Het
Fasn A T 11: 120,807,903 I2489N probably damaging Het
Fbxo43 T C 15: 36,151,811 K587E probably damaging Het
Fscn2 A G 11: 120,362,055 D116G probably damaging Het
Galm T C 17: 80,150,117 V194A probably benign Het
Gm14851 C T 8: 21,095,260 probably benign Het
Gpr180 T A 14: 118,160,176 F361I probably damaging Het
Gpx2 A T 12: 76,792,908 C105* probably null Het
Gsdmc2 A T 15: 63,828,062 probably benign Het
Hes2 T G 4: 152,160,525 S150R probably damaging Het
Ighv1-56 C T 12: 115,242,797 probably benign Het
Inhbb A T 1: 119,417,983 V192D probably benign Het
Itgal A T 7: 127,300,980 M137L probably benign Het
Jak2 A G 19: 29,287,982 N470D probably benign Het
Jph1 T C 1: 17,091,757 E227G probably damaging Het
Kcnj6 A T 16: 94,832,487 I237N probably damaging Het
Kctd8 G T 5: 69,340,688 P205Q probably benign Het
Klhdc1 A T 12: 69,250,766 N37I probably damaging Het
Lrp2 T A 2: 69,451,264 H3921L probably benign Het
Lrp8os2 T C 4: 107,807,048 probably benign Het
Man2a2 A C 7: 80,362,308 D700E probably benign Het
Mast1 A T 8: 84,921,397 L485Q probably damaging Het
Mmp3 A G 9: 7,450,165 D299G probably damaging Het
Mptx2 T A 1: 173,274,681 D147V possibly damaging Het
Mrpl9 T A 3: 94,443,817 probably null Het
Mup21 T G 4: 62,148,592 E137A probably damaging Het
Mutyh T A 4: 116,815,606 V52D probably damaging Het
Nalcn T A 14: 123,515,330 S340C probably damaging Het
Neb A G 2: 52,308,311 Y474H probably damaging Het
Nol8 A G 13: 49,662,150 E560G possibly damaging Het
Ntn4 A G 10: 93,644,849 D145G possibly damaging Het
Nup93 G A 8: 94,311,662 probably null Het
Olfr133 C A 17: 38,148,855 T89K probably benign Het
Olfr1384 A T 11: 49,513,910 I91F probably damaging Het
Olfr346 A G 2: 36,688,182 Y60C probably damaging Het
Olfr691 C T 7: 105,337,143 C191Y probably damaging Het
Pcdhb8 T A 18: 37,356,412 V40E possibly damaging Het
Peg3 C T 7: 6,711,416 R269H probably benign Het
Piwil1 T A 5: 128,750,270 F648I possibly damaging Het
Psd4 A T 2: 24,405,314 K827* probably null Het
Retsat T A 6: 72,601,710 L135* probably null Het
Rtp3 A G 9: 110,987,321 probably benign Het
Samd14 A G 11: 95,023,350 Y305C probably damaging Het
Satb1 T A 17: 51,775,291 Q445L possibly damaging Het
Slc17a6 T A 7: 51,667,470 I413N possibly damaging Het
Slu7 A T 11: 43,440,642 Q201L probably benign Het
Spg11 T C 2: 122,108,157 T439A probably benign Het
Sstr5 A T 17: 25,491,673 L194Q possibly damaging Het
Tjp2 A T 19: 24,138,786 L13Q probably damaging Het
Tnk2 G A 16: 32,680,142 V758I probably damaging Het
Ttll8 C A 15: 88,917,247 V413L probably benign Het
Wiz T C 17: 32,368,135 D67G probably damaging Het
Other mutations in Shbg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03401:Shbg APN 11 69615099 missense probably damaging 1.00
R0102:Shbg UTSW 11 69617589 unclassified probably benign
R0102:Shbg UTSW 11 69617589 unclassified probably benign
R0968:Shbg UTSW 11 69617188 missense probably damaging 1.00
R1569:Shbg UTSW 11 69617589 unclassified probably benign
R1714:Shbg UTSW 11 69617157 missense possibly damaging 0.74
R1721:Shbg UTSW 11 69614972 missense probably damaging 0.97
R4735:Shbg UTSW 11 69617500 missense possibly damaging 0.64
R4903:Shbg UTSW 11 69615086 missense probably benign 0.00
R4956:Shbg UTSW 11 69617219 missense probably damaging 1.00
R5524:Shbg UTSW 11 69616762 missense probably benign 0.00
R5543:Shbg UTSW 11 69616738 missense probably damaging 1.00
Posted On2015-04-16