Mutagenetix > Incidental Mutation

Incidental Mutation 'R1569:Shbg'

177133

Institutional Source

Beutler Lab

Gene Symbol

Shbg

Ensembl Gene

ENSMUSG00000005202

Gene Name

sex hormone binding globulin

Synonyms

MMRRC Submission

039608-MU

Accession Numbers

Essential gene?

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

Stock #

R1569 (G1)

Quality Score

225

Status

Validated

Chromosome

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

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

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

96% (72/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,427 (GRCm39)	K166*	probably null	Het
Abca2	T	A	2: 25,329,197 (GRCm39)	N1012K	probably benign	Het
Ahnak	T	C	19: 8,981,458 (GRCm39)	V914A	possibly damaging	Het
Akap1	T	A	11: 88,724,006 (GRCm39)	M833L	probably benign	Het
Atp2b1	T	A	10: 98,823,188 (GRCm39)	H249Q	probably benign	Het
Atp6v0a4	A	G	6: 38,027,560 (GRCm39)	V750A	probably damaging	Het
Car6	T	C	4: 150,285,499 (GRCm39)	Y23C	probably damaging	Het
Celsr3	A	G	9: 108,706,267 (GRCm39)	T917A	probably damaging	Het
Clmn	C	A	12: 104,747,340 (GRCm39)	D736Y	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dennd4c	G	A	4: 86,704,331 (GRCm39)	R282H	possibly damaging	Het
Dsg1b	T	A	18: 20,529,537 (GRCm39)	N327K	probably damaging	Het
Eftud2	A	T	11: 102,745,597 (GRCm39)		probably benign	Het
Esyt1	G	T	10: 128,354,863 (GRCm39)	S512R	possibly damaging	Het
Fam124b	T	C	1: 80,190,852 (GRCm39)	Y177C	possibly damaging	Het
Fbxl5	A	T	5: 43,922,803 (GRCm39)	I205K	probably damaging	Het
Fcrl1	A	G	3: 87,292,012 (GRCm39)	Y57C	probably damaging	Het
Gabpb1	A	T	2: 126,494,171 (GRCm39)	D151E	probably benign	Het
Gcc2	C	T	10: 58,105,993 (GRCm39)	L310F	probably benign	Het
Hsd11b1	C	G	1: 192,922,635 (GRCm39)	E141Q	probably damaging	Het
Htr1b	A	G	9: 81,514,340 (GRCm39)	V89A	probably benign	Het
Ibsp	A	T	5: 104,458,017 (GRCm39)	T185S	probably damaging	Het
Igfn1	T	C	1: 135,896,771 (GRCm39)	D1265G	probably benign	Het
Ints9	T	C	14: 65,217,571 (GRCm39)	Y33H	possibly damaging	Het
Kif1a	A	T	1: 92,986,532 (GRCm39)		probably benign	Het
Lama1	A	T	17: 68,087,613 (GRCm39)		probably null	Het
Lbp	A	T	2: 158,161,607 (GRCm39)	D223V	probably damaging	Het
Lck	C	A	4: 129,449,449 (GRCm39)	D283Y	probably damaging	Het
Lcmt2	A	G	2: 120,970,309 (GRCm39)	F258S	probably damaging	Het
Lsg1	G	T	16: 30,399,823 (GRCm39)		probably null	Het
Maip1	T	C	1: 57,452,554 (GRCm39)		probably benign	Het
Mark3	T	G	12: 111,600,180 (GRCm39)	I465S	probably benign	Het
Marveld2	C	T	13: 100,737,506 (GRCm39)	V128I	probably benign	Het
Mcm3ap	A	G	10: 76,319,022 (GRCm39)	H750R	possibly damaging	Het
Mdn1	A	T	4: 32,723,501 (GRCm39)	Q2479L	probably null	Het
Met	A	T	6: 17,531,503 (GRCm39)	K594*	probably null	Het
Pak2	G	T	16: 31,856,113 (GRCm39)	S241R	probably damaging	Het
Plxna4	T	C	6: 32,162,410 (GRCm39)	I1368V	possibly damaging	Het
Pparg	T	C	6: 115,416,960 (GRCm39)	I51T	probably benign	Het
Ppp1r18	A	G	17: 36,179,595 (GRCm39)	E62G	probably damaging	Het
Prkag2	T	C	5: 25,152,475 (GRCm39)	S86G	possibly damaging	Het
Rabgap1l	A	T	1: 160,529,960 (GRCm39)	I347K	probably benign	Het
Rdh1	A	T	10: 127,598,941 (GRCm39)	M141L	probably benign	Het
Rfx2	A	T	17: 57,111,326 (GRCm39)	I82N	possibly damaging	Het
Sh2b2	G	A	5: 136,260,589 (GRCm39)	A209V	possibly damaging	Het
Sh3d19	G	A	3: 86,033,951 (GRCm39)	R768H	possibly damaging	Het
Sh3rf1	C	T	8: 61,837,896 (GRCm39)	P814S	probably damaging	Het
Slc15a2	T	C	16: 36,576,745 (GRCm39)	T430A	probably benign	Het
Slc17a3	A	T	13: 24,039,591 (GRCm39)	I250F	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spg11	A	G	2: 121,932,187 (GRCm39)	S552P	probably damaging	Het
Srpk2	A	G	5: 23,719,024 (GRCm39)	I597T	probably damaging	Het
St6galnac1	T	G	11: 116,660,097 (GRCm39)	N72T	possibly damaging	Het
Tecpr2	T	A	12: 110,911,321 (GRCm39)		probably null	Het
Tmem208	T	A	8: 106,061,462 (GRCm39)	C163S	possibly damaging	Het
Tpte	T	C	8: 22,835,047 (GRCm39)	V401A	probably damaging	Het
Trhde	A	G	10: 114,282,093 (GRCm39)	W795R	possibly damaging	Het
Trpm3	G	A	19: 22,866,809 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,626,063 (GRCm39)	T14999S	possibly damaging	Het
Txndc2	A	T	17: 65,945,921 (GRCm39)	N85K	probably benign	Het
Yes1	A	G	5: 32,810,507 (GRCm39)	Y192C	probably damaging	Het
Zan	A	G	5: 137,427,392 (GRCm39)	V2415A	unknown	Het
Zfp410	T	A	12: 84,379,726 (GRCm39)	C311S	probably damaging	Het
Zfp51	A	T	17: 21,676,642 (GRCm39)	M38L	probably benign	Het
Zfp560	A	T	9: 20,260,011 (GRCm39)	C284S	possibly damaging	Het
Zfp808	C	T	13: 62,320,714 (GRCm39)	R648*	probably null	Het
Zfp976	G	T	7: 42,262,806 (GRCm39)	H344N	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
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

Predicted Primers

PCR Primer
(F):5'- CCCAGGTTCGAAACTCAAAGGAGG -3'
(R):5'- TGTTGCTACTACTGATGCCGCC -3'

Sequencing Primer
(F):5'- CTCAAAGGAGGAATGGGGTCTG -3'
(R):5'- TGACCCTGGAACTGTACCTTTC -3'

Posted On

2014-04-24