|Institutional Source||Beutler Lab|
|Gene Name||general transcription factor IIA, 1-like|
|Synonyms||Gtf2a1lf, 1700011N16Rik, Alf|
|Is this an essential gene?||Possibly essential (E-score: 0.555)|
|Stock #||R6481 (G1)|
|Chromosomal Location||88668660-88715152 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 88711625 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 379 (D379G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024970 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024970]|
|Predicted Effect||probably benign
AA Change: D379G
PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: D379G
|Coding Region Coverage||
|Validation Efficiency||100% (82/82)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The assembly and stability of the RNA polymerase II transcription pre-initiation complex on a eukaryotic core promoter involve the effects of transcription factor IIA (TFIIA) on the interaction between TATA-binding protein (TBP) and DNA. This gene encodes a germ cell-specific counterpart of the large (alpha/beta) subunit of general transcription factor TFIIA that is able to stabilize the binding of TBP to DNA and may be uniquely important to testis biology. Alternative splicing for this locus has been observed and two variants, encoding distinct isoforms, have been identified. Co-transcription of this gene and the neighboring upstream gene generates a rare transcript (SALF), which encodes a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Mar 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gtf2a1l||
(F):5'- GAGGGATCTGAATATTCGGGTAAC -3'
(R):5'- TAAATGTTAAGGGCCCTGCATAC -3'
(F):5'- AACCGGCGATAACTCTTC -3'
(R):5'- TGTTAAGGGCCCTGCATACAAATAAC -3'