Incidental Mutation 'R4956:Shbg'
ID 381594
Institutional Source Beutler Lab
Gene Symbol Shbg
Ensembl Gene ENSMUSG00000005202
Gene Name sex hormone binding globulin
Synonyms
MMRRC Submission 042553-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.276) question?
Stock # R4956 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69505630-69508731 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69508045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 107 (E107K)
Ref Sequence ENSEMBL: ENSMUSP00000005334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005334] [ENSMUST00000092969] [ENSMUST00000108656]
AlphaFold P97497
Predicted Effect probably damaging
Transcript: ENSMUST00000005334
AA Change: E107K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005334
Gene: ENSMUSG00000005202
AA Change: E107K

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
Meta Mutation Damage Score 0.3735 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 96% (70/73)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G C 1: 120,096,840 (GRCm39) probably benign Het
3110009E18Rik C T 1: 120,096,850 (GRCm39) probably benign Het
3110009E18Rik G T 1: 120,096,849 (GRCm39) probably benign Het
4930562C15Rik A G 16: 4,672,816 (GRCm39) K866E probably damaging Het
Afap1l2 T C 19: 56,931,879 (GRCm39) M49V probably benign Het
Atf7ip C T 6: 136,583,808 (GRCm39) R1280C probably damaging Het
Atp2a2 A G 5: 122,599,643 (GRCm39) F583L probably benign Het
Atxn7l3b A G 10: 112,764,501 (GRCm39) C43R probably damaging Het
Axin2 T C 11: 108,833,904 (GRCm39) V617A probably damaging Het
Bltp3a T A 17: 28,108,958 (GRCm39) probably null Het
Brd1 A T 15: 88,614,316 (GRCm39) F193Y probably damaging Het
Cdc27 T C 11: 104,420,221 (GRCm39) S141G probably damaging Het
Chst9 A T 18: 15,851,045 (GRCm39) F7Y probably damaging Het
Cpn2 T A 16: 30,079,233 (GRCm39) Q156L possibly damaging Het
Dcaf6 A T 1: 165,216,354 (GRCm39) D416E probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Eif2s3y A G Y: 1,023,407 (GRCm39) T430A possibly damaging Het
Enah G A 1: 181,745,854 (GRCm39) T401I probably damaging Het
Esp38 T G 17: 40,266,053 (GRCm39) I54R probably damaging Het
Ffar4 C T 19: 38,086,028 (GRCm39) R152W probably benign Het
Flvcr1 A G 1: 190,758,383 (GRCm39) probably benign Het
Fzd9 G A 5: 135,278,796 (GRCm39) A363V probably damaging Het
Gadl1 T A 9: 115,869,987 (GRCm39) I451N probably benign Het
Hmg20a A G 9: 56,388,948 (GRCm39) T172A probably damaging Het
Ints1 G A 5: 139,742,885 (GRCm39) T1695M probably damaging Het
Ipo13 G A 4: 117,758,768 (GRCm39) A699V probably benign Het
Ipo9 A G 1: 135,331,960 (GRCm39) probably null Het
Klra17 A G 6: 129,850,279 (GRCm39) L57P probably damaging Het
Map3k8 A C 18: 4,339,530 (GRCm39) D280E probably benign Het
Mycbp2 A G 14: 103,524,675 (GRCm39) F662L probably damaging Het
Ncor1 T A 11: 62,231,431 (GRCm39) H792L probably damaging Het
Nlrx1 T A 9: 44,173,909 (GRCm39) K431* probably null Het
Nos1 A G 5: 118,085,575 (GRCm39) N1301S probably benign Het
Obp2b A G 2: 25,627,087 (GRCm39) T7A probably damaging Het
Odc1 T C 12: 17,597,958 (GRCm39) I95T probably damaging Het
Or2t43 A G 11: 58,457,344 (GRCm39) Y276H probably damaging Het
Or4c127 G A 2: 89,833,187 (GRCm39) V146M probably benign Het
Or5b97 C T 19: 12,878,963 (GRCm39) M60I probably damaging Het
Or6ae1 A G 7: 139,741,993 (GRCm39) I290T possibly damaging Het
Or6c1 A T 10: 129,517,968 (GRCm39) F213L probably benign Het
Pcif1 A T 2: 164,731,610 (GRCm39) Q521L probably damaging Het
Plekhg2 A C 7: 28,067,780 (GRCm39) L223R probably damaging Het
Plod3 A G 5: 137,018,772 (GRCm39) N270D probably damaging Het
Ppp1r37 A T 7: 19,266,636 (GRCm39) L417* probably null Het
Psmd6 C T 14: 14,116,166 (GRCm38) V141I probably benign Het
Rcn1 A T 2: 105,225,121 (GRCm39) Y111* probably null Het
Rell2 G A 18: 38,090,758 (GRCm39) R145H probably damaging Het
Scaper T C 9: 55,745,426 (GRCm39) K614R probably damaging Het
Scart2 A G 7: 139,878,275 (GRCm39) I1001V probably benign Het
Slc30a3 G A 5: 31,244,247 (GRCm39) P345L possibly damaging Het
Tchp A C 5: 114,857,681 (GRCm39) E391D probably damaging Het
Timeless A G 10: 128,077,520 (GRCm39) D200G probably damaging Het
Tspear A G 10: 77,700,601 (GRCm39) T144A possibly damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vgll3 T C 16: 65,624,820 (GRCm39) V56A possibly damaging Het
Vmn2r71 C T 7: 85,268,436 (GRCm39) T213I probably benign Het
Wtap T C 17: 13,186,423 (GRCm39) T375A probably benign Het
Yipf2 T G 9: 21,503,204 (GRCm39) T88P probably damaging Het
Zfp382 T A 7: 29,830,979 (GRCm39) D89E probably benign Het
Zfp955b C T 17: 33,524,209 (GRCm39) probably benign Het
Zpr1 C T 9: 46,185,961 (GRCm39) T144I 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
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
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
Predicted Primers PCR Primer
(F):5'- CACTTCCCAGGGATTGTGTG -3'
(R):5'- TGGGCCTCTTAATCCAGTCC -3'

Sequencing Primer
(F):5'- CCAGGGATTGTGTGTCGCC -3'
(R):5'- GGCCTCTTAATCCAGTCCTCTGAC -3'
Posted On 2016-04-27