Incidental Mutation 'R1069:2610203C20Rik'
ID 86130
Institutional Source Beutler Lab
Gene Symbol 2610203C20Rik
Ensembl Gene ENSMUSG00000074415
Gene Name RIKEN cDNA 2610203C20 gene
Synonyms
MMRRC Submission 039155-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R1069 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 41376397-41617772 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41590298 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 151 (R151H)
Ref Sequence ENSEMBL: ENSMUSP00000155652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098868]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000098868
AA Change: R151H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180622
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181214
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188277
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212373
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A G 18: 6,624,037 N106S probably benign Het
Akr1c21 C A 13: 4,575,334 probably benign Het
Alpk2 G A 18: 65,305,014 R1570C probably benign Het
Atp8b3 G A 10: 80,531,018 R249C probably damaging Het
Cacnb4 C A 2: 52,455,611 R252I probably damaging Het
Cars T C 7: 143,570,107 T480A probably benign Het
Ccnf A T 17: 24,223,997 C745* probably null Het
Ccr8 A G 9: 120,094,217 I133V probably benign Het
Cndp1 G A 18: 84,634,652 probably benign Het
Dgkq T C 5: 108,656,037 probably benign Het
Ecd A G 14: 20,333,436 C312R probably damaging Het
Epp13 A T 7: 6,255,922 probably null Het
Gstm1 T C 3: 108,012,748 S226G probably damaging Het
Gtf3c3 C T 1: 54,417,778 A488T probably damaging Het
Hacd4 T A 4: 88,437,502 I49L probably damaging Het
Hid1 T C 11: 115,356,765 N269S probably damaging Het
Ifitm3 A T 7: 141,009,900 probably benign Het
Kctd9 C T 14: 67,729,420 probably benign Het
Kif20b T C 19: 34,950,851 L1131P probably damaging Het
Kif2c T C 4: 117,178,153 T33A probably damaging Het
Lipc T C 9: 70,823,537 T38A probably benign Het
Lrguk A C 6: 34,048,883 I205L possibly damaging Het
Ncapg T A 5: 45,675,930 probably benign Het
Ptprd A G 4: 75,998,487 probably benign Het
Ptprd T A 4: 76,100,633 K635* probably null Het
Sap130 G A 18: 31,711,629 V898I probably damaging Het
Sned1 G A 1: 93,281,654 V830M possibly damaging Het
Svep1 C T 4: 58,070,239 G2516R probably damaging Het
Tas2r131 C T 6: 132,957,825 R7K probably benign Het
Tfpi A G 2: 84,453,792 probably benign Het
Trim80 T C 11: 115,448,083 C580R probably damaging Het
Ttn T A 2: 76,969,929 I312F unknown Het
Other mutations in 2610203C20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1548:2610203C20Rik UTSW 9 41581376 missense probably damaging 0.97
R3941:2610203C20Rik UTSW 9 41590274 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CACAAGACTGCTGCTGCATTGATTC -3'
(R):5'- ATCGCCTGTGACTGCTTTGCTG -3'

Sequencing Primer
(F):5'- AAAGAGCATTGTCTCTCCAGTGTC -3'
(R):5'- CATTAACACATTTGGGCAAAGC -3'
Posted On 2013-11-18