Incidental Mutation 'R0102:Shbg'
ID 16560
Institutional Source Beutler Lab
Gene Symbol Shbg
Ensembl Gene ENSMUSG00000005202
Gene Name sex hormone binding globulin
Synonyms
MMRRC Submission 038388-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.276) question?
Stock # R0102 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 69505630-69508731 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 69508415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005334] [ENSMUST00000092969] [ENSMUST00000108656]
AlphaFold P97497
Predicted Effect probably benign
Transcript: ENSMUST00000005334
SMART Domains Protein: ENSMUSP00000005334
Gene: ENSMUSG00000005202

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
  • 1x: 88.8%
  • 3x: 85.2%
  • 10x: 73.9%
  • 20x: 53.9%
Validation Efficiency 97% (84/87)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,874 (GRCm39) K1021R probably damaging Het
2610528J11Rik G A 4: 118,386,762 (GRCm39) V36M probably damaging Het
4930402F06Rik T A 2: 35,265,795 (GRCm39) R292* probably null Het
Abcb4 T C 5: 8,959,194 (GRCm39) F207S probably damaging Het
Adcy4 A C 14: 56,008,990 (GRCm39) N812K probably benign Het
Afap1l2 G T 19: 56,916,872 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,687,385 (GRCm39) H203L probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Bod1l G A 5: 41,974,612 (GRCm39) P2234L probably benign Het
Cfi A C 3: 129,642,416 (GRCm39) H90P probably damaging Het
Cyp2d10 C T 15: 82,288,794 (GRCm39) M229I probably benign Het
Dnah5 A G 15: 28,245,897 (GRCm39) probably benign Het
Dnttip2 G T 3: 122,069,452 (GRCm39) M222I probably benign Het
Dync1li2 A T 8: 105,154,757 (GRCm39) Y284N probably benign Het
Ebf1 T C 11: 44,882,282 (GRCm39) Y413H probably benign Het
Exog A G 9: 119,281,319 (GRCm39) T186A possibly damaging Het
Fam171a2 T C 11: 102,334,939 (GRCm39) N66S possibly damaging Het
Gprc5a A T 6: 135,056,033 (GRCm39) N160I probably damaging Het
Haus3 A G 5: 34,323,258 (GRCm39) probably null Het
Klhl20 A T 1: 160,918,015 (GRCm39) C90* probably null Het
Krt84 T A 15: 101,437,138 (GRCm39) I342L probably damaging Het
Lifr G A 15: 7,208,373 (GRCm39) D584N probably damaging Het
Lmbrd2 G A 15: 9,184,039 (GRCm39) R551K probably damaging Het
Lrtm1 T A 14: 28,744,184 (GRCm39) probably benign Het
Mat1a T A 14: 40,842,187 (GRCm39) probably benign Het
Mest A G 6: 30,746,269 (GRCm39) I279V probably damaging Het
Mroh5 A T 15: 73,691,199 (GRCm39) D155E probably benign Het
Naa25 A G 5: 121,573,632 (GRCm39) D787G possibly damaging Het
Naaladl1 C T 19: 6,162,534 (GRCm39) P465S probably damaging Het
Necab3 G A 2: 154,387,232 (GRCm39) R302C probably damaging Het
Nsg1 A T 5: 38,316,254 (GRCm39) D32E probably damaging Het
Ntrk2 T C 13: 58,956,607 (GRCm39) V22A probably benign Het
Nuggc A G 14: 65,851,000 (GRCm39) D290G probably null Het
Nup205 A T 6: 35,202,715 (GRCm39) probably benign Het
Or2t35 C T 14: 14,407,876 (GRCm38) S218F probably damaging Het
Or4f57 G C 2: 111,790,942 (GRCm39) Q159E probably damaging Het
Pde4b T A 4: 102,447,375 (GRCm39) S9T probably benign Het
Phip A T 9: 82,787,845 (GRCm39) probably null Het
Pitpnm3 C T 11: 71,947,072 (GRCm39) V776M probably damaging Het
Pon2 A G 6: 5,289,091 (GRCm39) probably benign Het
Ppp1r12b T A 1: 134,763,637 (GRCm39) probably null Het
Ppp1r15b A G 1: 133,060,908 (GRCm39) N475S probably damaging Het
Prorp A G 12: 55,429,082 (GRCm39) D535G probably benign Het
Prrt3 A T 6: 113,474,790 (GRCm39) L144H probably damaging Het
Psmb7 A G 2: 38,533,377 (GRCm39) V50A possibly damaging Het
Sacs T A 14: 61,442,017 (GRCm39) S1354R probably damaging Het
Sdcbp2 A G 2: 151,425,884 (GRCm39) T29A probably benign Het
Shcbp1 A G 8: 4,794,452 (GRCm39) I447T probably damaging Het
Spata31h1 T A 10: 82,119,390 (GRCm39) K4540M probably damaging Het
Spata31h2 T A 5: 23,542,489 (GRCm39) noncoding transcript Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trappc12 A T 12: 28,796,751 (GRCm39) F260L probably damaging Het
Trgv4 T G 13: 19,369,370 (GRCm39) F38C possibly damaging Het
Trim10 C A 17: 37,181,074 (GRCm39) H102N probably damaging Het
Ube2u A G 4: 100,407,122 (GRCm39) T215A possibly damaging Het
Vcan T G 13: 89,851,787 (GRCm39) T1058P probably benign Het
Vwa3b A C 1: 37,174,595 (GRCm39) E670A probably damaging Het
Other mutations in Shbg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02212:Shbg APN 11 69,508,035 (GRCm39) missense probably damaging 1.00
IGL03401:Shbg APN 11 69,505,925 (GRCm39) missense probably damaging 1.00
R0102:Shbg UTSW 11 69,508,415 (GRCm39) unclassified probably benign
R0968:Shbg UTSW 11 69,508,014 (GRCm39) missense probably damaging 1.00
R1569:Shbg UTSW 11 69,508,415 (GRCm39) unclassified probably benign
R1714:Shbg UTSW 11 69,507,983 (GRCm39) missense possibly damaging 0.74
R1721:Shbg UTSW 11 69,505,798 (GRCm39) missense probably damaging 0.97
R4735:Shbg UTSW 11 69,508,326 (GRCm39) missense possibly damaging 0.64
R4903:Shbg UTSW 11 69,505,912 (GRCm39) missense probably benign 0.00
R4956:Shbg UTSW 11 69,508,045 (GRCm39) missense probably damaging 1.00
R5524:Shbg UTSW 11 69,507,588 (GRCm39) missense probably benign 0.00
R5543:Shbg UTSW 11 69,507,564 (GRCm39) missense probably damaging 1.00
R7967:Shbg UTSW 11 69,505,813 (GRCm39) missense probably benign 0.00
R9132:Shbg UTSW 11 69,506,430 (GRCm39) missense probably benign 0.15
R9159:Shbg UTSW 11 69,506,430 (GRCm39) missense probably benign 0.15
Posted On 2013-01-20