Incidental Mutation 'R6691:2300009A05Rik'
ID 530420
Institutional Source Beutler Lab
Gene Symbol 2300009A05Rik
Ensembl Gene ENSMUSG00000032403
Gene Name RIKEN cDNA 2300009A05 gene
Synonyms
MMRRC Submission 044809-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # R6691 (G1)
Quality Score 173.009
Status Not validated
Chromosome 9
Chromosomal Location 63301729-63306526 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63306236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 90 (Y90H)
Ref Sequence ENSEMBL: ENSMUSP00000127596 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168665]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126238
Predicted Effect probably damaging
Transcript: ENSMUST00000168665
AA Change: Y90H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127596
Gene: ENSMUSG00000032403
AA Change: Y90H

DomainStartEndE-ValueType
Pfam:DUF4528 29 154 2.1e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191455
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agk A G 6: 40,369,624 (GRCm39) D337G probably benign Het
Amn A G 12: 111,241,831 (GRCm39) H299R possibly damaging Het
Angptl4 A G 17: 33,999,755 (GRCm39) probably null Het
AU040320 G A 4: 126,730,463 (GRCm39) M563I possibly damaging Het
Cachd1 T C 4: 100,846,683 (GRCm39) M1042T probably benign Het
Calcoco2 A G 11: 95,990,934 (GRCm39) S247P unknown Het
Cd209c T A 8: 3,995,680 (GRCm39) I41L probably benign Het
Ceacam12 T A 7: 17,803,149 (GRCm39) V185D possibly damaging Het
Chpt1 A T 10: 88,321,762 (GRCm39) probably benign Het
Clca3a1 G C 3: 144,719,644 (GRCm39) A442G probably damaging Het
Cldn8 T C 16: 88,359,423 (GRCm39) I167M possibly damaging Het
Cln3 A G 7: 126,178,606 (GRCm39) V143A possibly damaging Het
Dusp11 T C 6: 85,938,507 (GRCm39) H4R possibly damaging Het
Ephb3 T A 16: 21,033,223 (GRCm39) F69Y probably damaging Het
Gm11099 A T 2: 58,749,485 (GRCm39) probably benign Het
Grik2 A T 10: 49,149,021 (GRCm39) Y521* probably null Het
Igf2r A G 17: 12,907,895 (GRCm39) L2143P probably damaging Het
Kcnk1 T C 8: 126,751,970 (GRCm39) V192A probably benign Het
Or4a81 A T 2: 89,619,332 (GRCm39) Y121* probably null Het
Or8k53 A C 2: 86,177,763 (GRCm39) S116A probably damaging Het
Parp3 A G 9: 106,350,891 (GRCm39) S329P probably benign Het
Pld3 A T 7: 27,231,741 (GRCm39) N483K probably benign Het
Rbm33 A T 5: 28,557,544 (GRCm39) E252D probably damaging Het
Ryr2 T C 13: 11,609,609 (GRCm39) T4406A probably benign Het
Sgsm3 A G 15: 80,893,063 (GRCm39) D380G possibly damaging Het
Sorl1 G T 9: 41,913,863 (GRCm39) D1355E probably damaging Het
Sptbn1 A G 11: 30,063,984 (GRCm39) S1945P probably damaging Het
Ube2m A T 7: 12,770,396 (GRCm39) F70I probably damaging Het
Ube3b A G 5: 114,546,185 (GRCm39) I664V probably benign Het
Ugt1a7c A G 1: 88,023,378 (GRCm39) E179G possibly damaging Het
Vps50 T C 6: 3,504,939 (GRCm39) probably null Het
Xpo1 T C 11: 23,236,875 (GRCm39) L718P probably damaging Het
Zfp354c A G 11: 50,705,602 (GRCm39) I491T probably benign Het
Other mutations in 2300009A05Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4328:2300009A05Rik UTSW 9 63,306,238 (GRCm39) missense probably damaging 1.00
R6591:2300009A05Rik UTSW 9 63,306,236 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAAGCAACTTCGGAGCCAC -3'
(R):5'- ATTTTCCTGATCTGCGCAGTCG -3'

Sequencing Primer
(F):5'- AACTTCGGAGCCACTGTCG -3'
(R):5'- ACGCATGCGCACACTCG -3'
Posted On 2018-08-01