Incidental Mutation 'R4170:1700047A11Rik'
ID 320742
Institutional Source Beutler Lab
Gene Symbol 1700047A11Rik
Ensembl Gene ENSMUSG00000085437
Gene Name RIKEN cDNA 1700047A11 gene
Synonyms
MMRRC Submission 040863-MU
Accession Numbers
Essential gene? Not available question?
Stock # R4170 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 26572637-26586548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26585815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 63 (T63S)
Ref Sequence ENSEMBL: ENSMUSP00000046788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037182]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037182
AA Change: T63S

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: T63S

DomainStartEndE-ValueType
Pfam:HOOK 12 710 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153552
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209542
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap3 T A 4: 155,984,458 (GRCm39) S189T possibly damaging Het
Acsbg2 G A 17: 57,160,846 (GRCm39) T266I probably benign Het
Cacna1s A G 1: 136,035,933 (GRCm39) D1144G probably damaging Het
Diaph3 T C 14: 87,223,143 (GRCm39) D365G probably damaging Het
Dock7 T A 4: 98,854,638 (GRCm39) D1542V probably damaging Het
Efr3a T A 15: 65,717,831 (GRCm39) V337D probably damaging Het
Elk3 A G 10: 93,101,197 (GRCm39) probably null Het
Ercc6 T C 14: 32,288,754 (GRCm39) L867P probably damaging Het
Gdf6 A G 4: 9,859,650 (GRCm39) D244G probably benign Het
Get1 G A 16: 95,954,176 (GRCm39) A92T probably benign Het
Gzmn T C 14: 56,404,261 (GRCm39) D192G possibly damaging Het
Krt81 T A 15: 101,359,193 (GRCm39) M242L probably benign Het
Lysmd3 C T 13: 81,817,529 (GRCm39) Q169* probably null Het
Man2c1 A G 9: 57,045,310 (GRCm39) D473G probably benign Het
Mmp23 C T 4: 155,735,767 (GRCm39) R268Q probably damaging Het
Or1j17 C A 2: 36,578,734 (GRCm39) T240N probably damaging Het
Or5p58 T A 7: 107,694,280 (GRCm39) I166L probably benign Het
Prmt3 G T 7: 49,476,524 (GRCm39) A378S probably benign Het
Ptf1a C T 2: 19,451,819 (GRCm39) L273F possibly damaging Het
Ptpru A T 4: 131,503,659 (GRCm39) Y1124N probably damaging Het
Rtkn T G 6: 83,119,376 (GRCm39) M1R probably null Het
Rttn T A 18: 88,993,847 (GRCm39) F175I probably damaging Het
Slc5a7 T C 17: 54,583,886 (GRCm39) D468G probably benign Het
Slc9a9 A G 9: 95,110,952 (GRCm39) Y590C probably damaging Het
Smarcd1 T C 15: 99,605,812 (GRCm39) L320P probably damaging Het
Sox2 A T 3: 34,704,703 (GRCm39) M47L probably damaging Het
Sptan1 T C 2: 29,920,037 (GRCm39) M2258T possibly damaging Het
Tnrc6b T A 15: 80,800,988 (GRCm39) D1431E probably benign Het
Trav8n-2 A T 14: 53,583,875 (GRCm39) T111S possibly damaging Het
Tut4 A G 4: 108,405,256 (GRCm39) Y1293C probably damaging Het
Zbtb46 T C 2: 181,066,148 (GRCm39) M1V probably null Het
Zfp7 T C 15: 76,775,818 (GRCm39) V620A probably benign Het
Zfp804a T A 2: 82,083,832 (GRCm39) F95I probably damaging Het
Predicted Primers PCR Primer
(F):5'- TGGCATATTCTGGTAGGCAG -3'
(R):5'- GAACCGATTTTAGAAACTGCACAG -3'

Sequencing Primer
(F):5'- GGTAGGCAGTGTCAAATTATT -3'
(R):5'- ACTGCACAGTTACCTGGTG -3'
Posted On 2015-06-12