|Institutional Source||Beutler Lab|
|Gene Name||PAX interacting (with transcription-activation domain) protein 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3882 (G1)|
|Chromosomal Location||27740080-27791691 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 27748839 bp|
|Amino Acid Change||Arginine to Glutamine at position 953 (R953Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002291 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002291]|
|Predicted Effect||probably damaging
AA Change: R953Q
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: R953Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1145|
|Coding Region Coverage||
|Validation Efficiency||97% (33/34)|
FUNCTION: This gene encodes a nuclear-localized protein that contains six BRCT1 (C-terminal of breast cancer susceptibility protein) domains. The encoded protein is involved in the repair of DNA double-strand breaks and is necessary for progression through cell division. The protein also functions in the regulation of transcription by recruiting histone methyltransferases to gene promoters bound by the sequence-specific transcription factor paired box protein 2 (Pax2). [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutant mice are developmentally retarded and embyronic lethal by E9.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Paxip1||
(F):5'- CCATCAGAGTAAAGAATGTTCCTG -3'
(R):5'- TCACAGGATGAGTGTGGCTG -3'
(F):5'- CAGTCTGATCTAGCTACACAGTGAG -3'
(R):5'- GTGGGTTGTATGGCCTGCC -3'