|Institutional Source||Beutler Lab|
|Gene Name||inhibin beta-B|
|Is this an essential gene?||Possibly essential (E-score: 0.638)|
|Stock #||R7498 (G1)|
|Chromosomal Location||119415465-119422248 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 119417878 bp|
|Amino Acid Change||Arginine to Histidine at position 227 (R227H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044918 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038765]|
|Predicted Effect||probably damaging
AA Change: R227H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R227H
|Meta Mutation Damage Score||0.1329|
|Coding Region Coverage||
|Validation Efficiency||99% (75/76)|
FUNCTION: This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate a subunit of the dimeric activin and inhibin protein complexes. These complexes activate and inhibit, respectively, follicle stimulating hormone secretion from the pituitary gland. Homozygous knockout mice for this gene exhibit eyelid defects. [provided by RefSeq, Aug 2016]
PHENOTYPE: Some homozygotes for targeted null mutations exhibit open eyes at birth and impaired maternal nuturing. Mutant females for one line exhibit extended gestation length, retarded mammary duct elongation and alveolar morphogenesis, and are unable to nurse their pups. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Inhbb||
(F):5'- GTCGATGAAGAACTGTTGCCTG -3'
(R):5'- GCAACCAGAACCTATTCGTGG -3'
(F):5'- GATGCGATGTCTGCTATCGCC -3'
(R):5'- ACCAGAACCTATTCGTGGTGCAG -3'