Incidental Mutation 'IGL03246:Pof1b'
ID 414390
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 # IGL03246
Quality Score
Status
Chromosome X
Chromosomal Location 111548128-111608348 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111557817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 366 (N366K)
Ref Sequence ENSEMBL: ENSMUSP00000047655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039887]
AlphaFold Q8K4L4
Predicted Effect probably benign
Transcript: ENSMUST00000039887
AA Change: N366K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047655
Gene: ENSMUSG00000034607
AA Change: N366K

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,303,238 (GRCm39) H392Q probably benign Het
Alox8 T A 11: 69,076,841 (GRCm39) I547L probably damaging Het
Capn13 T C 17: 73,689,855 (GRCm39) H52R probably benign Het
Cfap57 T A 4: 118,433,842 (GRCm39) I979L probably benign Het
Ctdnep1 T C 11: 69,875,156 (GRCm39) probably benign Het
Ercc5 C A 1: 44,206,241 (GRCm39) P385T probably damaging Het
Fam98a C T 17: 75,845,848 (GRCm39) M299I probably damaging Het
Flcn A T 11: 59,684,936 (GRCm39) I505N possibly damaging Het
Fn1 G A 1: 71,663,455 (GRCm39) T1011I possibly damaging Het
Klhl28 T C 12: 65,004,060 (GRCm39) D151G probably benign Het
Klk13 T A 7: 43,370,422 (GRCm39) N28K probably damaging Het
Macc1 T C 12: 119,410,420 (GRCm39) V396A probably benign Het
Mageb11 C A X: 89,936,008 (GRCm39) H87Q probably benign Het
Magi2 T A 5: 20,563,948 (GRCm39) I360K probably damaging Het
Myh7b T C 2: 155,459,792 (GRCm39) I251T probably damaging Het
Naalad2 A T 9: 18,296,395 (GRCm39) I85K possibly damaging Het
Or5ae1 T C 7: 84,565,919 (GRCm39) C311R probably benign Het
Pbrm1 A T 14: 30,832,506 (GRCm39) M1490L probably benign Het
Pclo C T 5: 14,727,631 (GRCm39) probably benign Het
Pdcd6ip T C 9: 113,507,485 (GRCm39) K357R possibly damaging Het
Pnpla6 C T 8: 3,581,530 (GRCm39) T601I probably benign Het
Prr9 A G 3: 92,030,286 (GRCm39) probably benign Het
Ptprz1 G T 6: 22,986,159 (GRCm39) A320S probably damaging Het
Ripor1 A G 8: 106,342,490 (GRCm39) Y187C possibly damaging Het
Rnf13 A G 3: 57,676,471 (GRCm39) E42G probably damaging Het
Sdf4 T C 4: 156,085,154 (GRCm39) V163A probably benign Het
Smc2 C T 4: 52,440,301 (GRCm39) Q16* probably null Het
Srsf3-ps T A 11: 98,516,119 (GRCm39) R85* probably null Het
Tbck T A 3: 132,480,331 (GRCm39) C737S probably benign Het
Tra2a A T 6: 49,226,019 (GRCm39) Y140* probably null Het
Vcpip1 A C 1: 9,816,182 (GRCm39) L734V probably benign Het
Vmn1r87 G A 7: 12,866,288 (GRCm39) probably benign 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
IGL03231:Pof1b APN X 111,554,987 (GRCm39) missense possibly damaging 0.52
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