Incidental Mutation 'B6584:1700102H20Rik'
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ID622
Institutional Source Beutler Lab
Gene Symbol 1700102H20Rik
Ensembl Gene
Gene NameRIKEN cDNA 1700102H20 gene
Synonyms
Accession Numbers

Genbank: XR_105813.1

Is this an essential gene? Not available question?
Stock #B6584 (G3) of strain supermodel
Quality Score
Status Validated
Chromosome17
Chromosomal Location3557824-3559863 bp(+) (GRCm38)
Type of Mutation
DNA Base Change (assembly) C to T at 3559578 bp
ZygosityHomozygous
Amino Acid Change
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 Efficiency43.9%
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
2810474O19Rik C T 6: 149,329,346 H1297Y probably damaging Het
Acadl T A 1: 66,848,473 probably benign Het
Astn2 C T 4: 65,992,387 V403M probably damaging Het
Clcc1 C T 3: 108,672,913 T302I probably damaging Homo
Hormad1 T A 3: 95,570,696 probably benign Homo
Rnf213 C T 11: 119,426,069 T1007I probably damaging Het
Rrh T C 3: 129,811,742 N239D probably damaging Homo
Samd4 A C 14: 47,016,337 H86P probably damaging Homo
Slc27a2 T C 2: 126,561,642 L195P possibly damaging Het
Srek1ip1 T C 13: 104,817,374 probably benign Het
Tars2 T C 3: 95,742,150 probably null Homo
Zfp37 A T 4: 62,191,378 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 On2011-04-12