Incidental Mutation 'B6584:1700102H20Rik'
ID 622
Institutional Source Beutler Lab
Gene Symbol 1700102H20Rik
Ensembl Gene
Gene Name RIKEN cDNA 1700102H20 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # B6584 (G3) of strain supermodel
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 3608099-3610138 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 3609853 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000035291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041003]
AlphaFold no structure available at present
PDB Structure Crystal structure of murine TFB1M [X-RAY DIFFRACTION]
Crystal structure of murine TFB1M in complex with SAM [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000041003
SMART Domains Protein: ENSMUSP00000035291
Gene: ENSMUSG00000036983

DomainStartEndE-ValueType
rADc 43 234 5.56e-69 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231344
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232131
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 70.0%
Het Detection Efficiency 43.9%
Validation Efficiency 89% (133/150)
Allele List at MGI

All alleles(9) : Gene trapped(9)

Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T A 1: 66,887,632 (GRCm39) probably benign Het
Astn2 C T 4: 65,910,624 (GRCm39) V403M probably damaging Het
Clcc1 C T 3: 108,580,229 (GRCm39) T302I probably damaging Homo
Hormad1 T A 3: 95,478,007 (GRCm39) probably benign Homo
Resf1 C T 6: 149,230,844 (GRCm39) H1297Y probably damaging Het
Rnf213 C T 11: 119,316,895 (GRCm39) T1007I probably damaging Het
Rrh T C 3: 129,605,391 (GRCm39) N239D probably damaging Homo
Samd4 A C 14: 47,253,794 (GRCm39) H86P probably damaging Homo
Slc27a2 T C 2: 126,403,562 (GRCm39) L195P possibly damaging Het
Srek1ip1 T C 13: 104,953,882 (GRCm39) probably benign Het
Tars2 T C 3: 95,649,462 (GRCm39) probably null Homo
Zfp37 A T 4: 62,109,615 (GRCm39) V521E probably damaging Het
Nature of Mutation

DNA sequencing using the SOLiD technique identified a C to T transition at position 117 of the 1700102H20Rik transcript using Genbank record XR_105813.1.   The mutated nucleotide causes a threonine to isoleucine substitution at amino acid 35 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method.

Protein Function and Prediction

The 1700102H20Rik gene encodes a 236 amino acid  protein with evidence at the transcript level. The protein is uncharacterized (Uniprot Q9D979).

Posted On 2011-04-12