Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02212:Shbg'

285523

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shbg

Ensembl Gene

ENSMUSG00000005202

Gene Name

sex hormone binding globulin

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

IGL02212

Quality Score

Status

Chromosome

Chromosomal Location

69505630-69508731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69508035 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

P97497

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

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

probably benign
Transcript: ENSMUST00000092969

SMART Domains

Protein: ENSMUSP00000090647
Gene: ENSMUSG00000069835

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,079,233 (GRCm39)	D1079V	probably damaging	Het
Adam18	T	C	8: 25,127,195 (GRCm39)	H467R	probably benign	Het
Ambra1	T	G	2: 91,747,706 (GRCm39)	D1056E	probably damaging	Het
Aoah	A	C	13: 21,187,071 (GRCm39)	N456T	probably benign	Het
Batf2	T	A	19: 6,221,991 (GRCm39)	F267Y	probably damaging	Het
Bbs7	C	T	3: 36,648,558 (GRCm39)	V397I	probably benign	Het
Bbs9	T	A	9: 22,723,808 (GRCm39)	D824E	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Brip1	A	T	11: 86,029,841 (GRCm39)	V601E	possibly damaging	Het
Bub1	A	G	2: 127,647,271 (GRCm39)	F773L	probably damaging	Het
Cadps	A	T	14: 12,522,345 (GRCm38)	D606E	possibly damaging	Het
Cenps	T	G	4: 149,213,303 (GRCm39)	D54A	probably damaging	Het
Cep170	T	A	1: 176,563,502 (GRCm39)	N1504I	probably damaging	Het
Cttnbp2	A	G	6: 18,382,748 (GRCm39)	V1340A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,052,091 (GRCm39)	S667T	probably benign	Het
Defa38	C	T	8: 21,585,276 (GRCm39)		probably benign	Het
Dgkb	A	G	12: 38,189,413 (GRCm39)	Y272C	probably damaging	Het
Dlx3	A	G	11: 95,011,467 (GRCm39)	D107G	probably benign	Het
Drd3	A	T	16: 43,582,675 (GRCm39)	N56I	probably benign	Het
Elavl4	T	A	4: 110,063,609 (GRCm39)	I331F	probably damaging	Het
Fam167a	T	G	14: 63,700,078 (GRCm39)	S213A	probably damaging	Het
Fasn	A	T	11: 120,698,729 (GRCm39)	I2489N	probably damaging	Het
Fbxo43	T	C	15: 36,151,957 (GRCm39)	K587E	probably damaging	Het
Fscn2	A	G	11: 120,252,881 (GRCm39)	D116G	probably damaging	Het
Galm	T	C	17: 80,457,546 (GRCm39)	V194A	probably benign	Het
Gpr180	T	A	14: 118,397,588 (GRCm39)	F361I	probably damaging	Het
Gpx2	A	T	12: 76,839,682 (GRCm39)	C105*	probably null	Het
Gsdmc2	A	T	15: 63,699,911 (GRCm39)		probably benign	Het
Hes2	T	G	4: 152,244,982 (GRCm39)	S150R	probably damaging	Het
Ighv1-56	C	T	12: 115,206,417 (GRCm39)		probably benign	Het
Inhbb	A	T	1: 119,345,713 (GRCm39)	V192D	probably benign	Het
Itgal	A	T	7: 126,900,152 (GRCm39)	M137L	probably benign	Het
Jak2	A	G	19: 29,265,382 (GRCm39)	N470D	probably benign	Het
Jph1	T	C	1: 17,161,981 (GRCm39)	E227G	probably damaging	Het
Kcnj6	A	T	16: 94,633,346 (GRCm39)	I237N	probably damaging	Het
Kctd8	G	T	5: 69,498,031 (GRCm39)	P205Q	probably benign	Het
Klhdc1	A	T	12: 69,297,540 (GRCm39)	N37I	probably damaging	Het
Lrp2	T	A	2: 69,281,608 (GRCm39)	H3921L	probably benign	Het
Lrp8os2	T	C	4: 107,664,245 (GRCm39)		probably benign	Het
Man2a2	A	C	7: 80,012,056 (GRCm39)	D700E	probably benign	Het
Mast1	A	T	8: 85,648,026 (GRCm39)	L485Q	probably damaging	Het
Mmp3	A	G	9: 7,450,165 (GRCm39)	D299G	probably damaging	Het
Mptx2	T	A	1: 173,102,248 (GRCm39)	D147V	possibly damaging	Het
Mrpl9	T	A	3: 94,351,124 (GRCm39)		probably null	Het
Mup21	T	G	4: 62,066,829 (GRCm39)	E137A	probably damaging	Het
Mutyh	T	A	4: 116,672,803 (GRCm39)	V52D	probably damaging	Het
Nalcn	T	A	14: 123,752,742 (GRCm39)	S340C	probably damaging	Het
Neb	A	G	2: 52,198,323 (GRCm39)	Y474H	probably damaging	Het
Nol8	A	G	13: 49,815,626 (GRCm39)	E560G	possibly damaging	Het
Ntn4	A	G	10: 93,480,711 (GRCm39)	D145G	possibly damaging	Het
Nup93	G	A	8: 95,038,290 (GRCm39)		probably null	Het
Or1j17	A	G	2: 36,578,194 (GRCm39)	Y60C	probably damaging	Het
Or2n1b	C	A	17: 38,459,746 (GRCm39)	T89K	probably benign	Het
Or2y14	A	T	11: 49,404,737 (GRCm39)	I91F	probably damaging	Het
Or52b2	C	T	7: 104,986,350 (GRCm39)	C191Y	probably damaging	Het
Pcdhb8	T	A	18: 37,489,465 (GRCm39)	V40E	possibly damaging	Het
Peg3	C	T	7: 6,714,415 (GRCm39)	R269H	probably benign	Het
Piwil1	T	A	5: 128,827,334 (GRCm39)	F648I	possibly damaging	Het
Psd4	A	T	2: 24,295,326 (GRCm39)	K827*	probably null	Het
Retsat	T	A	6: 72,578,693 (GRCm39)	L135*	probably null	Het
Rtp3	A	G	9: 110,816,389 (GRCm39)		probably benign	Het
Samd14	A	G	11: 94,914,176 (GRCm39)	Y305C	probably damaging	Het
Satb1	T	A	17: 52,082,319 (GRCm39)	Q445L	possibly damaging	Het
Slc17a6	T	A	7: 51,317,218 (GRCm39)	I413N	possibly damaging	Het
Slu7	A	T	11: 43,331,469 (GRCm39)	Q201L	probably benign	Het
Spg11	T	C	2: 121,938,638 (GRCm39)	T439A	probably benign	Het
Sstr5	A	T	17: 25,710,647 (GRCm39)	L194Q	possibly damaging	Het
Tjp2	A	T	19: 24,116,150 (GRCm39)	L13Q	probably damaging	Het
Tnk2	G	A	16: 32,498,960 (GRCm39)	V758I	probably damaging	Het
Ttll8	C	A	15: 88,801,450 (GRCm39)	V413L	probably benign	Het
Wiz	T	C	17: 32,587,109 (GRCm39)	D67G	probably damaging	Het

Other mutations in Shbg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2015-04-16