Incidental Mutation 'IGL03231:Pof1b'
ID 413904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pof1b
Ensembl Gene ENSMUSG00000034607
Gene Name premature ovarian failure 1B
Synonyms 2310066B14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03231
Quality Score
Status
Chromosome X
Chromosomal Location 111548128-111608348 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111554987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 506 (S506N)
Ref Sequence ENSEMBL: ENSMUSP00000047655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039887]
AlphaFold Q8K4L4
Predicted Effect possibly damaging
Transcript: ENSMUST00000039887
AA Change: S506N

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000047655
Gene: ENSMUSG00000034607
AA Change: S506N

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
low complexity region 25 44 N/A INTRINSIC
low complexity region 183 217 N/A INTRINSIC
coiled coil region 331 441 N/A INTRINSIC
coiled coil region 463 529 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,046,094 (GRCm39) F277V probably damaging Het
Arel1 T A 12: 84,981,084 (GRCm39) T308S probably benign Het
Asic1 T A 15: 99,596,983 (GRCm39) H548Q probably benign Het
B3galt1 T C 2: 67,948,947 (GRCm39) Y221H probably damaging Het
Bltp2 A G 11: 78,159,528 (GRCm39) T526A probably benign Het
Brs3 G T X: 56,090,804 (GRCm39) C221F probably benign Het
Capn7 G A 14: 31,077,247 (GRCm39) G322R probably damaging Het
Ccdc138 T C 10: 58,409,528 (GRCm39) L619P probably damaging Het
Cdh22 C T 2: 164,958,126 (GRCm39) V614I probably benign Het
Dnah5 C T 15: 28,311,294 (GRCm39) R1758W probably damaging Het
Dr1 T C 5: 108,423,474 (GRCm39) V87A probably benign Het
F830045P16Rik A G 2: 129,302,393 (GRCm39) S400P probably damaging Het
Fcgbpl1 A G 7: 27,853,147 (GRCm39) E1478G possibly damaging Het
Fyb2 T A 4: 104,843,460 (GRCm39) Y353* probably null Het
Gm28043 A G 17: 29,854,916 (GRCm39) D457G probably damaging Het
Gsap T C 5: 21,434,164 (GRCm39) V260A probably damaging Het
Kcnt2 A T 1: 140,461,740 (GRCm39) probably benign Het
Magee2 A T X: 103,899,944 (GRCm39) L236M probably damaging Het
Map4k3 A T 17: 80,905,104 (GRCm39) V729E probably damaging Het
Myh13 A G 11: 67,242,817 (GRCm39) E910G possibly damaging Het
Nbeal1 G T 1: 60,275,618 (GRCm39) A651S probably benign Het
Nhsl3 C T 4: 129,117,474 (GRCm39) V385I possibly damaging Het
Nuak2 A T 1: 132,255,915 (GRCm39) D188V probably damaging Het
Nup210l A G 3: 90,096,852 (GRCm39) T1354A probably damaging Het
Or10q1 A T 19: 13,726,749 (GRCm39) Q93L probably benign Het
Prrt3 A G 6: 113,474,485 (GRCm39) S246P possibly damaging Het
Rps6ka6 T A X: 110,360,018 (GRCm39) T43S probably benign Het
Slc19a2 G T 1: 164,088,449 (GRCm39) W98L probably damaging Het
Snap29 C T 16: 17,244,964 (GRCm39) S195L probably benign Het
Stt3b C T 9: 115,073,062 (GRCm39) G815S unknown Het
Tm9sf2 T G 14: 122,378,664 (GRCm39) I256R possibly damaging Het
Tpbpb A T 13: 61,049,996 (GRCm39) N44K probably damaging Het
Trim13 A G 14: 61,842,994 (GRCm39) E337G probably benign Het
Trmt6 A T 2: 132,657,756 (GRCm39) D33E probably benign Het
Trpm6 T A 19: 18,796,545 (GRCm39) S800R probably benign Het
V1rd19 A G 7: 23,703,328 (GRCm39) I265V probably benign Het
Xkrx A G X: 133,051,391 (GRCm39) L420P probably damaging Het
Zfp618 T C 4: 63,012,716 (GRCm39) Y167H probably damaging Het
Other mutations in Pof1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02629:Pof1b APN X 111,554,934 (GRCm39) splice site probably benign
IGL02902:Pof1b APN X 111,558,809 (GRCm39) critical splice acceptor site probably null
IGL03246:Pof1b APN X 111,557,817 (GRCm39) missense probably benign
R7169:Pof1b UTSW X 111,554,042 (GRCm39) missense probably benign 0.14
R7170:Pof1b UTSW X 111,554,042 (GRCm39) missense probably benign 0.14
R7171:Pof1b UTSW X 111,554,042 (GRCm39) missense probably benign 0.14
Posted On 2016-08-02