Incidental Mutation 'IGL03218:Phex'
ID413526
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phex
Ensembl Gene ENSMUSG00000057457
Gene Namephosphate regulating endopeptidase homolog, X-linked
SynonymsHPDR1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.513) question?
Stock #IGL03218
Quality Score
Status
ChromosomeX
Chromosomal Location157162075-157415312 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 157178787 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Glutamic Acid at position 636 (G636E)
Ref Sequence ENSEMBL: ENSMUSP00000078863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079945]
Predicted Effect probably damaging
Transcript: ENSMUST00000079945
AA Change: G636E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078863
Gene: ENSMUSG00000057457
AA Change: G636E

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Pfam:Peptidase_M13_N 77 479 6.1e-95 PFAM
Pfam:Peptidase_M13 538 748 3.5e-70 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Males hemizygous for a null mutation exhibit reduced body size, shortened hindlimbs and tail, osteomalacia, and markedly reduced plasma phosphate levels due to impaired kidney reabsorption. Female heterozygotes exhibit milder symptoms. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,484,663 probably null Het
Acot9 T A X: 155,295,211 V251E possibly damaging Het
Agtpbp1 A G 13: 59,500,207 S600P possibly damaging Het
Amfr A T 8: 94,000,336 M157K probably damaging Het
Arvcf T C 16: 18,404,125 probably benign Het
Ascc3 T C 10: 50,823,853 V1924A possibly damaging Het
Atp10a T A 7: 58,788,448 probably null Het
Atp1a2 T A 1: 172,289,303 E249V probably null Het
C1qc A G 4: 136,890,287 L166P probably damaging Het
Col4a3 C A 1: 82,643,206 probably benign Het
Def8 A G 8: 123,456,436 D258G probably damaging Het
Dll1 T C 17: 15,373,568 D179G probably benign Het
Dnah14 C A 1: 181,755,269 H3124Q probably benign Het
Fabp5 T A 3: 10,014,963 probably benign Het
Fam133b C T 5: 3,554,684 Q24* probably null Het
Fam13c A C 10: 70,448,769 D25A possibly damaging Het
Flna A G X: 74,234,602 probably null Het
Frem1 T A 4: 82,914,646 T1917S probably benign Het
Frmd4b T C 6: 97,308,114 T337A probably benign Het
Fxyd7 C T 7: 31,044,570 probably null Het
Galnt5 T G 2: 57,999,389 S334A possibly damaging Het
Gm10220 T C 5: 26,118,698 K117R probably damaging Het
Gpd2 T A 2: 57,307,054 L207H probably damaging Het
H2-M10.3 T A 17: 36,367,387 Y182F probably damaging Het
Itga8 T C 2: 12,111,025 I1018V possibly damaging Het
Letmd1 T C 15: 100,469,828 F89S probably damaging Het
Mcm3ap A G 10: 76,482,733 Y696C probably damaging Het
Mcpt9 A G 14: 56,027,451 Y198H probably damaging Het
Mmp1b A G 9: 7,387,907 V29A probably benign Het
Myom1 A G 17: 71,084,316 D940G possibly damaging Het
Myzap A G 9: 71,555,589 M225T probably benign Het
Naa25 A G 5: 121,426,070 Y516C probably damaging Het
Nsdhl T A X: 72,956,446 probably benign Het
Olfml1 A G 7: 107,571,269 E121G possibly damaging Het
Olfr1085 A G 2: 86,658,359 I33T probably benign Het
Olfr1245 A G 2: 89,575,591 V45A probably benign Het
Olfr736 A T 14: 50,393,658 M301L probably damaging Het
Pkd2l2 A T 18: 34,430,320 I475F probably damaging Het
Polr2b T A 5: 77,315,917 S54T probably benign Het
Prkx A T X: 77,786,200 L85Q probably damaging Het
Smc1b A T 15: 85,089,713 I914N probably benign Het
Susd2 A G 10: 75,642,625 L39P probably benign Het
Teddm2 C T 1: 153,851,024 V35I probably benign Het
Tspo T A 15: 83,571,430 V6E possibly damaging Het
Vps41 G T 13: 18,829,270 V353F possibly damaging Het
Wfdc18 T A 11: 83,709,207 probably null Het
Wsb1 C T 11: 79,248,498 S124N probably damaging Het
Zfp445 T C 9: 122,857,529 E177G probably benign Het
Zfp759 G T 13: 67,139,416 V344L probably benign Het
Other mutations in Phex
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00777:Phex APN X 157177532 missense probably damaging 1.00
IGL02176:Phex APN X 157268493 missense probably damaging 1.00
IGL02501:Phex APN X 157186275 missense probably damaging 1.00
IGL02502:Phex APN X 157183827 missense possibly damaging 0.93
IGL03214:Phex APN X 157177504 missense probably damaging 0.99
R0240:Phex UTSW X 157186218 missense probably damaging 1.00
R0240:Phex UTSW X 157186218 missense probably damaging 1.00
R0726:Phex UTSW X 157372561 splice site probably benign
R2888:Phex UTSW X 157310958 missense probably benign 0.00
R2889:Phex UTSW X 157310958 missense probably benign 0.00
R2890:Phex UTSW X 157310958 missense probably benign 0.00
Z1177:Phex UTSW X 157409964 missense probably damaging 1.00
Posted On2016-08-02