Incidental Mutation 'E2594:2210011C24Rik'
ID6
Institutional Source Beutler Lab
Gene Symbol 2210011C24Rik
Ensembl Gene ENSMUSG00000074217
Gene NameRIKEN cDNA 2210011C24 gene
Synonyms
Accession Numbers
Genbank:AK008705; MGI:1917384

 

Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #E2594 of strain daniel_gray
Quality Score
Status Validated
Chromosome8
Chromosomal Location84010222-84012171 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) G to A at 84010702 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056686] [ENSMUST00000185457] [ENSMUST00000188195] [ENSMUST00000190457] [ENSMUST00000191523]
Predicted Effect probably benign
Transcript: ENSMUST00000056686
SMART Domains Protein: ENSMUSP00000062086
Gene: ENSMUSG00000074217

DomainStartEndE-ValueType
Pfam:AKAP2_C 33 121 5.2e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184463
Predicted Effect probably benign
Transcript: ENSMUST00000185457
SMART Domains Protein: ENSMUSP00000140135
Gene: ENSMUSG00000074217

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:AKAP2_C 37 80 2.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188195
SMART Domains Protein: ENSMUSP00000140472
Gene: ENSMUSG00000074217

DomainStartEndE-ValueType
Pfam:AKAP2_C 23 107 1.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190457
SMART Domains Protein: ENSMUSP00000140089
Gene: ENSMUSG00000074217

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:AKAP2_C 37 130 4e-18 PFAM
Pfam:AKAP2_C 123 204 6.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191523
SMART Domains Protein: ENSMUSP00000140360
Gene: ENSMUSG00000074217

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:AKAP2_C 37 78 1.7e-10 PFAM
Meta Mutation Damage Score 0.1088 question?
Coding Region Coverage
  • 1x: 80.5%
  • 3x: 47.5%
Validation Efficiency 94% (32/34)
Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock
Total: 3 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 67,004,350 S443G probably damaging Homo
Atad3a G A 4: 155,750,933 probably benign Het
Ddx58 C T 4: 40,235,282 W69* probably null Het
Other mutations in 2210011C24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2993:2210011C24Rik UTSW 8 84011584 missense probably damaging 0.99
R6918:2210011C24Rik UTSW 8 84011684 start codon destroyed probably benign 0.01
Nature of Mutation
DNA sequencing using the SOLiD technique identified a C to T transition at position 1455 in the Genbank genomic region NC_000074 for the 2210011C24Rik gene on chromosome 8 (GTGGGAGACT-> GTGGGAGATT). The mutation is located within intron 2, nine nucleotides downstream from the end of exon 2, and impairs the donor splice site of intron 2. The mutation may result in skipping of the 62 nucleotide exon 2, removing 25 amino acids, but preserving the reading frame following the deletion. 2210011C24Rik contains 3 exons (Figure 1).
 
       <--exon 1  <--exon 2 intron 2--> exon 3--> 
1007 AGCCTCACCC……TCTGAGAAGGTGGGAGAC………GAGCGCAGACCCTGA 1679
96   -S--L--T-   -S--E--K-            -E--R--R--P--*  103      
      correct     deleted                 correct
 
The donor splice site of intron 2, which may be impaired by the 2210011C24Rik mutation, is indicated in blue lettering; the mutated nucleotide is indicated in red lettering. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 2).
Protein Function and Prediction

2210011C24Rik is an uncharacterized gene with evidence at the transcript level for the existence of the encoded protein (Uniprot Q9CVC4). The predicted protein is a fragment of 124 amino acids with no methionine start site. Analysis of the protein sequence by the SMART program predicted a coiled coil domain at amino acids 63-85, and weak homology to a domain found in P-loop containing nucleoside triphosphate hydrolases at amino acids 21-84.  

Posted On2009-10-27