Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02756:Fshb'

306466

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fshb

Ensembl Gene

ENSMUSG00000027120

Gene Name

follicle stimulating hormone beta

Synonyms

FSH, Fshbeta

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

IGL02756

Quality Score

Status

Chromosome

Chromosomal Location

107056140-107059656 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 107058873 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 29 (I29F)

Ref Sequence

ENSEMBL: ENSMUSP00000028533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028533]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028533
AA Change: I29F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028533
Gene: ENSMUSG00000027120
AA Change: I29F

Domain	Start	End	E-Value	Type
GHB	18	124	7.2e-67	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The pituitary glycoprotein hormone family includes follicle-stimulating hormone, luteinizing hormone, chorionic gonadotropin, and thyroid-stimulating hormone. All of these glycoproteins consist of an identical alpha subunit and a hormone-specific beta subunit. This gene encodes the beta subunit of follicle-stimulating hormone. In conjunction with luteinizing hormone, follicle-stimulating hormone induces egg and sperm production. [provided by RefSeq, Aug 2015]
PHENOTYPE: Females homozygous for a targeted null mutation are sterile with a preantral block in folliculogenesis. Mutant males have small testes and reduced Sertoli and germ cell numbers, but are fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,165,108	D54V	probably damaging	Het
Adamts18	C	A	8: 113,714,344		probably benign	Het
Angptl3	T	A	4: 99,031,162	L53Q	probably damaging	Het
Apc	A	G	18: 34,314,535	T1461A	probably damaging	Het
Arl11	T	A	14: 61,311,086	V115D	probably damaging	Het
Cabp4	C	A	19: 4,138,561	V173L	possibly damaging	Het
Casq1	T	A	1: 172,215,105	D230V	probably damaging	Het
Cdc42bpa	A	G	1: 180,109,259	I821V	possibly damaging	Het
Cfap65	T	C	1: 74,905,080	Y1494C	probably benign	Het
Chd1	T	A	17: 15,730,807	S215T	probably damaging	Het
Csf2rb2	T	C	15: 78,284,849	E593G	possibly damaging	Het
Cstf1	A	G	2: 172,375,875	D136G	probably damaging	Het
Ddx19b	T	C	8: 111,011,278		probably benign	Het
Dido1	A	T	2: 180,661,923	L1396Q	probably benign	Het
Ermn	A	G	2: 58,047,812	I263T	probably damaging	Het
F12	T	A	13: 55,421,067	Q294L	possibly damaging	Het
Far2	A	T	6: 148,157,391	I192F	probably damaging	Het
Gcgr	T	A	11: 120,536,985	Y251N	probably benign	Het
Gpr158	A	G	2: 21,827,079	I997V	possibly damaging	Het
Gprc5d	A	G	6: 135,116,615	V98A	probably damaging	Het
H2-T23	T	C	17: 36,031,688	E186G	probably damaging	Het
Khdrbs3	C	T	15: 69,024,836	T115I	probably benign	Het
Kifap3	C	T	1: 163,862,028	T527M	probably damaging	Het
Mfsd2a	C	T	4: 122,948,539	A512T	probably benign	Het
Mmp9	A	G	2: 164,949,315	D135G	probably benign	Het
Mylk	T	C	16: 34,963,646	V1394A	probably benign	Het
Nek9	A	C	12: 85,311,336		probably null	Het
Olfr1008	T	C	2: 85,690,058	S210P	probably damaging	Het
Olfr638	T	C	7: 104,003,659	I128T	probably damaging	Het
P2rx2	T	A	5: 110,342,410		probably benign	Het
P4htm	A	G	9: 108,579,778	L410P	probably damaging	Het
Pik3c2a	A	T	7: 116,364,513	W921R	probably benign	Het
Pnisr	T	C	4: 21,862,175	F288L	probably benign	Het
Ppp4r3a	C	T	12: 101,058,323		probably null	Het
Prss34	T	C	17: 25,299,277	S144P	probably damaging	Het
Qrsl1	T	C	10: 43,882,114	T328A	probably benign	Het
Rab33b	A	T	3: 51,484,524	T65S	probably damaging	Het
Rdh8	A	G	9: 20,825,341	S235G	possibly damaging	Het
Rrp12	T	C	19: 41,896,061	K6R	probably benign	Het
Sec24a	T	C	11: 51,696,733	D1025G	probably benign	Het
Sgo2a	T	G	1: 58,016,350	N564K	probably damaging	Het
Slc43a3	A	T	2: 84,944,268	M130L	probably benign	Het
Soat1	T	C	1: 156,446,575	I89V	probably benign	Het
St3gal5	A	G	6: 72,149,173	D307G	probably null	Het
Stxbp3-ps	C	T	19: 9,557,829		noncoding transcript	Het
Tacr2	A	G	10: 62,261,690		probably benign	Het
Tg	C	T	15: 66,734,586	T193I	probably benign	Het
Tnik	A	G	3: 28,542,030	T191A	probably damaging	Het
Trim27	T	C	13: 21,190,086		probably benign	Het
Usf2	A	T	7: 30,946,992	C134*	probably null	Het
Usp14	A	G	18: 10,001,769		probably null	Het
Usp47	T	C	7: 112,093,063	S911P	possibly damaging	Het
Vmn1r73	T	A	7: 11,756,647	S131T	possibly damaging	Het
Vmn2r80	T	C	10: 79,194,311	I657T	probably damaging	Het
Zfp935	A	T	13: 62,454,887	C166*	probably null	Het

Other mutations in Fshb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01918:Fshb	APN	2	107058927	missense	probably benign	0.00
IGL01985:Fshb	APN	2	107058828	missense	probably benign	0.00
IGL03083:Fshb	APN	2	107057467	missense	probably benign	0.00
R0019:Fshb	UTSW	2	107057345	missense	probably benign	0.22
R0019:Fshb	UTSW	2	107057345	missense	probably benign	0.22
R4754:Fshb	UTSW	2	107057282	makesense	probably null
R5197:Fshb	UTSW	2	107057509	missense	possibly damaging	0.85
R5319:Fshb	UTSW	2	107058879	missense	probably damaging	0.99
R6173:Fshb	UTSW	2	107057293	missense	possibly damaging	0.66

Posted On

2015-04-16