|Institutional Source||Beutler Lab|
|Gene Name||paired box 1|
|Synonyms||Pax-1, hunchback, wavy tail, hbs, wt|
|Is this an essential gene?||Possibly essential (E-score: 0.527)|
|Stock #||R2915 (G1)|
|Chromosomal Location||147361925-147393295 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 147368428 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 361 (Y361C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000105594 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000109968] [ENSMUST00000126068]|
|Predicted Effect||probably damaging
AA Change: Y361C
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: Y361C
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3894|
|Coding Region Coverage||
|Validation Efficiency||98% (50/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygotes for several mutations exhibit variably severe morphological alterations of vertebral column, sternum, scapula, skull, and thymus, with reduced adult survival and fertility. Some heterozygotes show milder skeletal abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pax1||
(F):5'- CTTTCGAGTGAAGATTGACATGC -3'
(R):5'- ACCTTCTCGGTGTTTGAAGG -3'
(F):5'- CGAGTGAAGATTGACATGCCTTTC -3'
(R):5'- TGAAGGTCATTGCCGCTGC -3'