Incidental Mutation 'IGL01750:Pitx1'
ID153111
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pitx1
Ensembl Gene ENSMUSG00000021506
Gene Namepaired-like homeodomain transcription factor 1
SynonymsPotx, Bft, P-OTX, Ptx1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.780) question?
Stock #IGL01750
Quality Score
Status
Chromosome13
Chromosomal Location55825051-55836192 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55826491 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 176 (Y176H)
Ref Sequence ENSEMBL: ENSMUSP00000021968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021968] [ENSMUST00000173618]
Predicted Effect probably damaging
Transcript: ENSMUST00000021968
AA Change: Y176H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021968
Gene: ENSMUSG00000021506
AA Change: Y176H

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
HOX 90 152 9.19e-26 SMART
low complexity region 205 232 N/A INTRINSIC
Pfam:OAR 277 295 7.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173618
SMART Domains Protein: ENSMUSP00000134609
Gene: ENSMUSG00000021506

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
HOX 90 124 1.3e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants have defects of hindlimbs, pelvis, mandible and submandibular gland, and decreased numbers of anterior pituitary cell types. Some mutants die in utero, but most die at birth, probably as a consequence of cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 A G 7: 81,092,282 R616G probably damaging Het
BC030867 T C 11: 102,254,951 probably benign Het
Cacna1b G A 2: 24,654,395 P1260S probably damaging Het
Ccz1 A T 5: 144,004,062 Y225N probably damaging Het
Col15a1 C T 4: 47,303,897 P1101S probably damaging Het
Cyp2d22 T A 15: 82,374,369 H97L probably benign Het
Emsy G A 7: 98,619,301 S511F probably damaging Het
Fnbp1l G T 3: 122,544,677 Y351* probably null Het
Gm5263 T G 1: 146,420,564 noncoding transcript Het
Hook2 T C 8: 84,993,236 probably null Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Kmt2d G A 15: 98,853,168 probably benign Het
Lpin1 T C 12: 16,577,176 N123S probably benign Het
Man2c1 T C 9: 57,140,780 probably null Het
Obscn T C 11: 59,031,639 E6558G probably damaging Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr531 T C 7: 140,400,657 T130A probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcdh7 A G 5: 57,720,422 T440A probably damaging Het
Plec A G 15: 76,173,389 V4116A probably damaging Het
Polrmt A G 10: 79,739,846 V617A possibly damaging Het
Pprc1 T C 19: 46,071,829 probably benign Het
Rbm19 G A 5: 120,118,792 A57T probably benign Het
Rin1 T C 19: 5,052,036 I134T possibly damaging Het
Thumpd2 G A 17: 81,054,386 A137V probably benign Het
Tle4 T C 19: 14,449,789 Y756C probably damaging Het
Tln1 A G 4: 43,545,435 L986P probably damaging Het
Tmem132c C A 5: 127,462,959 Q350K possibly damaging Het
Zfp474 A G 18: 52,639,277 N334S possibly damaging Het
Other mutations in Pitx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4492:Pitx1 UTSW 13 55828652 missense probably benign 0.35
R5360:Pitx1 UTSW 13 55828478 missense probably damaging 0.97
R5381:Pitx1 UTSW 13 55826079 missense probably damaging 1.00
R5484:Pitx1 UTSW 13 55826353 missense probably benign 0.01
R6314:Pitx1 UTSW 13 55826353 missense possibly damaging 0.78
R6897:Pitx1 UTSW 13 55828522 missense probably damaging 1.00
Posted On2014-02-04