Incidental Mutation 'IGL01985:Fshb'
ID181885
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: 0.162) question?
Stock #IGL01985
Quality Score
Status
Chromosome2
Chromosomal Location107056140-107059656 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107058828 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 44 (T44A)
Ref Sequence ENSEMBL: ENSMUSP00000028533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028533]
Predicted Effect probably benign
Transcript: ENSMUST00000028533
AA Change: T44A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000028533
Gene: ENSMUSG00000027120
AA Change: T44A

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cass4 A C 2: 172,427,206 S403R probably damaging Het
Ccdc175 A T 12: 72,128,278 Y540* probably null Het
Cep164 C T 9: 45,779,606 E1266K probably damaging Het
Clec12b T A 6: 129,382,371 probably benign Het
Col6a5 T C 9: 105,937,283 K510R unknown Het
Crisp4 G A 1: 18,134,065 P101S probably damaging Het
Dapk1 T C 13: 60,736,260 L614P probably damaging Het
Dip2c T C 13: 9,553,267 probably benign Het
Dock7 A G 4: 99,023,377 F589L probably benign Het
Dvl2 T A 11: 70,008,293 V459E probably damaging Het
E2f6 T C 12: 16,819,063 probably null Het
Exph5 T C 9: 53,376,569 L1650P probably damaging Het
Farp2 A G 1: 93,607,602 Y691C probably damaging Het
Gm13178 G A 4: 144,715,454 Q76* probably null Het
Gm28044 T A 13: 67,347,894 K28* probably null Het
Il12b G A 11: 44,408,054 W112* probably null Het
Ino80 T C 2: 119,433,321 T621A probably damaging Het
Irx5 T A 8: 92,359,527 probably benign Het
Jmy T C 13: 93,459,636 H495R possibly damaging Het
Kif21a A T 15: 90,991,767 V321D probably damaging Het
Lrrc10 T A 10: 117,046,016 D198E probably damaging Het
Lrsam1 T C 2: 32,928,091 E651G probably benign Het
Marc1 A G 1: 184,787,734 V230A probably damaging Het
Mylk4 T A 13: 32,717,581 I475L possibly damaging Het
Myom3 G A 4: 135,765,702 probably null Het
Olfr201 A T 16: 59,269,079 V196E probably benign Het
Pah G A 10: 87,578,982 V399M probably damaging Het
Pik3r4 G A 9: 105,663,045 E711K probably benign Het
Rbbp6 A G 7: 122,971,073 K38E probably damaging Het
Ror1 G A 4: 100,425,964 V409M possibly damaging Het
Slc6a11 T A 6: 114,134,892 V140D probably benign Het
Srebf2 G T 15: 82,192,359 A737S probably benign Het
Tcerg1 A G 18: 42,530,656 T303A unknown Het
Tmem74 A T 15: 43,867,080 I189N probably damaging Het
Tnr A G 1: 159,919,037 D1242G possibly damaging Het
U2surp A T 9: 95,490,226 F293L probably damaging Het
Uchl5 G A 1: 143,786,126 probably benign Het
Usp34 T A 11: 23,452,565 C2472S probably damaging Het
Usp42 G A 5: 143,715,185 R1028W probably damaging Het
Vmn2r10 A G 5: 109,006,259 S60P probably benign Het
Vmn2r31 G T 7: 7,394,511 D249E probably benign Het
Vnn1 C T 10: 23,900,744 T331I probably benign Het
Zmym6 G T 4: 127,100,748 V232F probably damaging Het
Other mutations in Fshb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01918:Fshb APN 2 107058927 missense probably benign 0.00
IGL02756:Fshb APN 2 107058873 missense probably damaging 1.00
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 On2014-05-07