|List [record 1 of 0]|
|Mutation Type||critical splice donor site (2 bp from exon)|
|Coordinate||36,608,577 bp (GRCm38)|
|Base Change||A ⇒ C (forward strand)|
|Gene Name||ATPase, class VI, type 11C|
|Chromosomal Location||60,223,290-60,592,698 bp (-)|
|MGI Phenotype||PHENOTYPE: Mice homozygous or hemizygous for an ENU mutation exhibit decreased B cells associated with arrested adult B cell lymphopoiesis. [provided by MGI curators]|
|Amino Acid Change|
|Institutional Source||Australian Phenomics Network|
Ensembl: ENSMUSP00000033480 (fasta)
|Gene Model||not available|
|Alleles Listed at MGI|
|Mode of Inheritance||X-linked Recessive|
|Last Updated||2016-05-13 3:09 PM by Stephen Lyon|
|Record Created||2011-02-07 12:25 PM by Nora G. Smart|
The 18NIH30a mutation was discovered during flow cytometry analysis of blood from ENU-mutagenized G3 mice (1). 18NIH30a males exhibited B cell frequencies in blood that were decreased to 3% of controls, but normal frequencies of T and natural killer (NK) cells (2). 18NIH30a is allelic to spelling, ambrosius and emptyhive (2;3).
For more information on the phenotypes of 18NIH30a mice, please see the record for ambrosius.
|Nature of Mutation|
The Atp11c gene was directly sequenced in genomic DNA from 18NIH30a mice using Sanger sequencing and a T to G transversion was detected at position 34148572 in the Genbank genomic region NC_000086 for the Atp11c gene on chromosome X (GTTAGATTTT-> GGTAGATTTT). The mutation is located within the donor splice site of intron 26, two nucleotides from the previous exon. Atp11c contains 30 total exons. Multiple Atp11c transcripts are displayed on Ensembl and Vega. The effect of the mutation at the cDNA and protein level is unknown. One possibility, shown below, is that aberrant splicing may result in skipping of the 66 base pair exon 26 and in-frame splicing from exon 25 to exon 27. This would result in deletion of 22 amino acids encoding the majority of the eighth transmembrane domain of the ATP11c protein.
<--exon 25 <--exon 26 intron 26--> exon 27--> <--exon 30 AATGGAAAG…………ACTCTGAAG GTTAGATTT…………CTCGCCTTG…………ATATTGTAA 1428 -N--G--K-…………-T--L--K- -L--A--L-…………-I--L--* correct deleted correct
The donor splice site of intron 26, which is destroyed by the mutation, is indicated in blue; the mutated nucleotide is indicated in red.
Please see the record for emptyhive for information about Atp11c.
The 18NIH30a mutation likely results in aberrant splicing of the Atp11c transcript. The phenotypes of these mice are essentially identical with other Atp11c mutants.
|Primers||Primers cannot be located by automatic search.|
1. Nelms, K. A., and Goodnow, C. C. (2001) Genome-Wide ENU Mutagenesis to Reveal Immune Regulators. Immunity. 15, 409-418.
2. Yabas, M., Teh, C. E., Frankenreiter, S., Lal, D., Roots, C. M., Whittle, B., Andrews, D. T., Zhang, Y., Teoh, N. C., Sprent, J., Tze, L. E., Kucharska, E. M., Kofler, J., Farell, G. C., Broer, S., Goodnow, C. C., and Enders, A. (2011) ATP11C is Critical for the Internalization of Phosphatidylserine and Differentiation of B Lymphocytes. Nat. Immunol.. 12, 441-449.
|Science Writers||Nora G. Smart|
|Illustrators||Diantha La Vine|
|Authors||Mehmet Yabas, Charis E. Teh, Sandra Frankenreiter, Dennis Lal, Carla M. Roots, Belinda Whittle, Daniel T. Andrews, Yafei Zhang, Narci C. Teoh, Jonathan Sprent, Lina E. Tze, Edyta M. Kucharska, Jennifer Kofler, Geoffrey C. Farell, Stefan Broer, Christopher C. Goodnow, Anselm Enders|
|List [record 1 of 0]|