Incidental Mutation 'IGL02756:Fshb'
ID306466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fshb
Ensembl Gene ENSMUSG00000027120
Gene Namefollicle stimulating hormone beta
SynonymsFSH, Fshbeta
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.201) question?
Stock #IGL02756
Quality Score
Status
Chromosome2
Chromosomal Location107056140-107059656 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 107058873 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 On2015-04-16