Incidental Mutation 'R2865:A230072I06Rik'
ID 253162
Institutional Source Beutler Lab
Gene Symbol A230072I06Rik
Ensembl Gene ENSMUSG00000074473
Gene Name RIKEN cDNA A230072I06 gene
Synonyms
MMRRC Submission 040454-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R2865 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 12328819-12330657 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 12329635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 30 (Q30R)
Ref Sequence ENSEMBL: ENSMUSP00000096536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098935]
AlphaFold Q3UUJ8
Predicted Effect unknown
Transcript: ENSMUST00000098935
AA Change: Q30R
SMART Domains Protein: ENSMUSP00000096536
Gene: ENSMUSG00000074473
AA Change: Q30R

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 124 139 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189500
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (30/30)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bmper A G 9: 23,395,237 (GRCm39) N656S probably benign Het
Cic T A 7: 24,972,646 (GRCm39) D792E probably damaging Het
Dab1 G A 4: 104,537,343 (GRCm39) C192Y probably benign Het
Ddx6 G T 9: 44,525,553 (GRCm39) L103F probably damaging Het
Fhod1 T C 8: 106,059,543 (GRCm39) K714R probably null Het
Flt1 T C 5: 147,531,431 (GRCm39) Q844R possibly damaging Het
Fnip1 T C 11: 54,393,250 (GRCm39) I562T probably damaging Het
Fxr2 T A 11: 69,530,253 (GRCm39) I40N probably damaging Het
Gm7168 A G 17: 14,170,117 (GRCm39) K495E probably benign Het
Gria2 C T 3: 80,639,392 (GRCm39) V207I probably benign Het
Ifna6 G C 4: 88,746,099 (GRCm39) R149S probably benign Het
Ifna6 C A 4: 88,746,086 (GRCm39) T145K probably benign Het
Igf2r T C 17: 12,905,611 (GRCm39) H2240R probably damaging Het
Ighv8-9 G A 12: 115,432,066 (GRCm39) P82S probably benign Het
Itpr3 T C 17: 27,310,525 (GRCm39) V436A probably benign Het
Ldb3 T G 14: 34,251,460 (GRCm39) D609A probably damaging Het
Lgalsl2 G T 7: 5,362,668 (GRCm39) D100Y probably benign Het
Luc7l C A 17: 26,485,335 (GRCm39) Q112K probably damaging Het
Marchf4 C T 1: 72,491,734 (GRCm39) R179H probably damaging Het
Myt1l A G 12: 29,960,788 (GRCm39) T75A probably benign Het
Or5t9 A T 2: 86,659,198 (GRCm39) D34V probably benign Het
Or8h10 A T 2: 86,808,805 (GRCm39) C112S possibly damaging Het
Parp4 C T 14: 56,851,181 (GRCm39) T728M probably damaging Het
Ppp1r10 A G 17: 36,239,384 (GRCm39) T398A possibly damaging Het
Ppp4c A T 7: 126,391,272 (GRCm39) I20N probably damaging Het
Rph3a C T 5: 121,085,990 (GRCm39) G482D probably damaging Het
Rtel1 T A 2: 180,991,765 (GRCm39) F388I probably benign Het
Slc12a6 G A 2: 112,177,662 (GRCm39) V594I probably benign Het
Slc2a4 G A 11: 69,836,942 (GRCm39) S134F probably damaging Het
Tead4 A T 6: 128,225,062 (GRCm39) probably null Het
Usp40 G A 1: 87,877,701 (GRCm39) Q1152* probably null Het
Other mutations in A230072I06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0139:A230072I06Rik UTSW 8 12,329,899 (GRCm39) missense unknown
R0149:A230072I06Rik UTSW 8 12,330,000 (GRCm39) missense unknown
R5809:A230072I06Rik UTSW 8 12,329,556 (GRCm39) missense unknown
R7503:A230072I06Rik UTSW 8 12,329,554 (GRCm39) missense unknown
R7651:A230072I06Rik UTSW 8 12,329,689 (GRCm39) missense unknown
R8094:A230072I06Rik UTSW 8 12,329,824 (GRCm39) missense unknown
R8821:A230072I06Rik UTSW 8 12,329,688 (GRCm39) missense unknown
R8831:A230072I06Rik UTSW 8 12,329,688 (GRCm39) missense unknown
R9349:A230072I06Rik UTSW 8 12,329,665 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACTGTCTAGTATGGCTGTCCTC -3'
(R):5'- CTGTGGTGTACTAGCTAGGC -3'

Sequencing Primer
(F):5'- CTCTCCTGGTGCAATGAGTGAAG -3'
(R):5'- GGTGTACTAGCTAGGCTCTTTCCAC -3'
Posted On 2014-12-04