Mutagenetix > Incidental Mutation

Incidental Mutation 'R5543:Shbg'

436113

Institutional Source

Beutler Lab

Gene Symbol

Shbg

Ensembl Gene

ENSMUSG00000005202

Gene Name

sex hormone binding globulin

Synonyms

MMRRC Submission

043101-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.276) question?

Stock #

R5543 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69505630-69508731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69507564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 171 (I171T)

Ref Sequence

ENSEMBL: ENSMUSP00000005334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005334]

AlphaFold

P97497

Predicted Effect

probably damaging
Transcript: ENSMUST00000005334
AA Change: I171T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005334
Gene: ENSMUSG00000005202
AA Change: I171T

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
LamG	68	203	2.59e-21	SMART
LamG	249	372	7.71e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137159

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	C	A	7: 127,836,353 (GRCm39)	S80I	probably benign	Het
Aak1	T	C	6: 86,959,627 (GRCm39)		probably null	Het
Abcc6	A	G	7: 45,638,960 (GRCm39)		probably null	Het
Acvr1	A	G	2: 58,353,157 (GRCm39)	S268P	probably damaging	Het
Apod	T	C	16: 31,122,351 (GRCm39)		probably null	Het
Atp5po	T	C	16: 91,723,418 (GRCm39)	I58V	probably benign	Het
AU040320	C	T	4: 126,735,017 (GRCm39)	T777M	probably damaging	Het
Ccne2	A	T	4: 11,194,026 (GRCm39)	N89I	probably benign	Het
Cspg4b	C	A	13: 113,457,407 (GRCm39)	T1151K	probably damaging	Het
Dnah7a	A	G	1: 53,543,228 (GRCm39)	V2314A	probably damaging	Het
Dop1b	T	C	16: 93,595,808 (GRCm39)	S1881P	probably damaging	Het
E4f1	A	G	17: 24,666,336 (GRCm39)	V24A	possibly damaging	Het
Esrrg	A	T	1: 187,882,451 (GRCm39)	D236V	probably damaging	Het
Fam240b	T	A	13: 64,633,736 (GRCm39)	I27F	possibly damaging	Het
Fat1	T	A	8: 45,476,516 (GRCm39)	I1854N	probably damaging	Het
Fchsd2	T	C	7: 100,920,906 (GRCm39)	Y480H	probably damaging	Het
Fras1	A	G	5: 96,676,394 (GRCm39)	N47S	probably benign	Het
Gabrr3	T	C	16: 59,253,870 (GRCm39)	S196P	probably damaging	Het
Gbp8	T	A	5: 105,165,696 (GRCm39)	D319V	possibly damaging	Het
Hrh3	G	T	2: 179,745,763 (GRCm39)	A61E	probably damaging	Het
Idua	T	C	5: 108,818,095 (GRCm39)	I89T	probably benign	Het
Ifitm3	T	A	7: 140,589,730 (GRCm39)	I108F	unknown	Het
Izumo4	T	C	10: 80,538,668 (GRCm39)	F40S	probably damaging	Het
Kifc2	A	G	15: 76,551,242 (GRCm39)	R679G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Ldha	A	T	7: 46,500,314 (GRCm39)	I171F	possibly damaging	Het
Lrfn4	T	C	19: 4,662,191 (GRCm39)	S609G	probably benign	Het
Mmp15	T	C	8: 96,094,729 (GRCm39)	F201S	possibly damaging	Het
Myof	C	T	19: 37,969,778 (GRCm39)	V295I	probably benign	Het
Or1n2	C	T	2: 36,797,369 (GRCm39)	T137I	possibly damaging	Het
Or2z2	T	A	11: 58,345,993 (GRCm39)	M261L	probably damaging	Het
Or5m12	G	T	2: 85,734,672 (GRCm39)	A242D	probably damaging	Het
Parp14	T	C	16: 35,655,137 (GRCm39)	D1778G	probably benign	Het
Pcnt	A	T	10: 76,247,886 (GRCm39)	D969E	probably benign	Het
Pibf1	A	T	14: 99,350,428 (GRCm39)	N192I	probably benign	Het
Pitpnm3	A	G	11: 71,947,023 (GRCm39)	F792S	probably damaging	Het
Pkd2	T	A	5: 104,637,199 (GRCm39)	I604N	probably damaging	Het
Pla2g15	T	C	8: 106,887,775 (GRCm39)	Y188H	probably damaging	Het
Plxnc1	G	T	10: 94,700,636 (GRCm39)	D643E	probably benign	Het
Prrc2c	G	A	1: 162,501,080 (GRCm39)	P1241L	probably damaging	Het
Ptprd	T	C	4: 75,977,990 (GRCm39)	E173G	probably damaging	Het
Shank3	T	C	15: 89,416,557 (GRCm39)	V232A	probably damaging	Het
Slc22a14	A	T	9: 119,002,674 (GRCm39)	F404L	probably benign	Het
Slc37a3	C	A	6: 39,331,960 (GRCm39)	G158C	probably damaging	Het
Slfn9	C	A	11: 82,873,207 (GRCm39)	L565F	probably damaging	Het
Spmip10	G	A	18: 56,727,760 (GRCm39)		probably benign	Het
Trank1	T	A	9: 111,195,180 (GRCm39)	M1068K	probably damaging	Het
Trbv15	A	T	6: 41,118,187 (GRCm39)	I15L	probably benign	Het
Ttn	C	T	2: 76,569,918 (GRCm39)	V26992M	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ugt2b34	T	A	5: 87,054,560 (GRCm39)	I74F	probably damaging	Het
Vamp3	A	G	4: 151,135,477 (GRCm39)	L47P	probably damaging	Het
Zfp143	T	A	7: 109,682,522 (GRCm39)	C363*	probably null	Het
Zfp438	T	C	18: 5,213,761 (GRCm39)	E399G	probably damaging	Het

Other mutations in Shbg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGGAATTAGGGCATCTGAGC -3'
(R):5'- ACCCATGTTCCAGAGCATC -3'

Sequencing Primer
(F):5'- GCATCTGAGCCCCAAAAACTATAG -3'
(R):5'- AGAGCATCTTCTTTCAGCTGTAC -3'

Posted On

2016-10-24