|Institutional Source||Beutler Lab|
|Gene Name||premature ovarian failure 1B|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7170 (G1)|
|Chromosomal Location||112638431-112698651 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 112644345 bp|
|Amino Acid Change||Isoleucine to Threonine at position 544 (I544T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047655 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039887]|
|Predicted Effect||probably benign
AA Change: I544T
PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
AA Change: I544T
|Coding Region Coverage||
|Validation Efficiency||100% (81/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Premature ovarian failure (POF) is characterized by primary or secondary amenorrhea in women less than 40 years old. Two POF susceptibility regions called "POF1" and "POF2" have been identified by breakpoint mapping of X-autosome translocations. POF1 extends from Xq21-qter while POF2 extends from Xq13.3 to Xq21.1. This gene, POF1B, resides in the POF2 region. This gene is expressed at trace levels in mouse prenatal ovary and is barely detectable or absent from adult ovary, in human and in the mouse respectively. This gene's expression is restricted to epithelia with its highest expression in the epidermis, and oro-pharyngeal and gastro-intestinal tracts. The protein encoded by this gene binds non-muscle actin filaments. The role this gene may play in the etiology of premature ovarian failure remains to be determined. [provided by RefSeq, Jan 2010]
PHENOTYPE: Both male and female mice homozygous for a targeted knockout mutation of this gene are viable and fertile have no reported abnormal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pof1b||
(F):5'- CTGATGGCCCCAATGTCATAAAC -3'
(R):5'- GCCTGTATAGCATTTTGACTACTG -3'
(F):5'- TGGCCCCAATGTCATAAACAACTTTG -3'
(R):5'- AGCATTTTGACTACTGTGTATCAAC -3'