Incidental Mutation 'R8228:0610030E20Rik'
ID 637049
Institutional Source Beutler Lab
Gene Symbol 0610030E20Rik
Ensembl Gene ENSMUSG00000058706
Gene Name RIKEN cDNA 0610030E20 gene
Synonyms
MMRRC Submission 067661-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R8228 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 72324300-72330131 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 72324500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000076957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070345] [ENSMUST00000077783]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000070345
SMART Domains Protein: ENSMUSP00000064515
Gene: ENSMUSG00000056305

DomainStartEndE-ValueType
low complexity region 11 27 N/A INTRINSIC
low complexity region 48 73 N/A INTRINSIC
ZnF_C2H2 133 154 5.07e0 SMART
Pfam:UCH 223 551 3.9e-45 PFAM
Pfam:UCH_1 224 533 1.3e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000077783
SMART Domains Protein: ENSMUSP00000076957
Gene: ENSMUSG00000058706

DomainStartEndE-ValueType
Pfam:UPF0561 1 126 4.4e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206262
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,009,729 (GRCm39) Y158H probably benign Het
4930438A08Rik T A 11: 58,182,381 (GRCm39) I252N Het
A930011G23Rik G A 5: 99,524,980 (GRCm39) P60S probably damaging Het
Abcf1 A G 17: 36,271,933 (GRCm39) probably null Het
AI987944 T C 7: 41,026,260 (GRCm39) T14A probably damaging Het
Alox12b T C 11: 69,054,755 (GRCm39) Y253H probably damaging Het
Anapc1 T A 2: 128,461,837 (GRCm39) K1756* probably null Het
Arid5b T A 10: 68,114,536 (GRCm39) E2V possibly damaging Het
Atp13a1 G A 8: 70,251,569 (GRCm39) V545M probably damaging Het
Atp2b4 TTCTTC TTCTTCCTCTTC 1: 133,629,459 (GRCm39) probably benign Het
Cert1 A G 13: 96,679,723 (GRCm39) T18A probably benign Het
Cfap119 G A 7: 127,184,179 (GRCm39) T239M probably benign Het
Col1a1 T G 11: 94,836,426 (GRCm39) probably null Het
Csdc2 C T 15: 81,833,411 (GRCm39) T136I possibly damaging Het
Dpp9 A T 17: 56,498,129 (GRCm39) I609N probably damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG,TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Gjb6 T C 14: 57,361,926 (GRCm39) R112G probably benign Het
Gm19410 A G 8: 36,252,992 (GRCm39) K646E possibly damaging Het
Grik5 T C 7: 24,709,933 (GRCm39) E934G probably damaging Het
Grik5 A T 7: 24,745,735 (GRCm39) F446Y possibly damaging Het
Iffo2 C G 4: 139,302,483 (GRCm39) N75K probably damaging Het
Kif15 A G 9: 122,821,041 (GRCm39) N649D possibly damaging Het
Lrit2 G A 14: 36,791,148 (GRCm39) A276T probably damaging Het
Mcm8 T C 2: 132,684,714 (GRCm39) probably null Het
Mmut A G 17: 41,248,219 (GRCm39) E82G possibly damaging Het
Or4n4 A G 14: 50,518,997 (GRCm39) S238P probably damaging Het
Or5w8 T A 2: 87,688,284 (GRCm39) M255K probably benign Het
Pcdhga8 A G 18: 37,861,236 (GRCm39) Q764R probably benign Het
Pcgf2 T C 11: 97,582,865 (GRCm39) Y138C probably benign Het
Phf20l1 G T 15: 66,511,789 (GRCm39) V922F possibly damaging Het
Pkd1l2 A T 8: 117,792,514 (GRCm39) I426N probably damaging Het
Psmd6 T C 14: 14,116,843 (GRCm38) N160S possibly damaging Het
Robo1 A G 16: 72,809,768 (GRCm39) D1172G probably benign Het
Sdr9c7 T C 10: 127,734,544 (GRCm39) Y11H possibly damaging Het
Sec24c G T 14: 20,739,975 (GRCm39) A635S probably benign Het
Tex2 T C 11: 106,457,997 (GRCm39) I478V probably benign Het
Traip T C 9: 107,838,265 (GRCm39) M166T probably benign Het
Trdn T C 10: 33,033,014 (GRCm39) S80P probably damaging Het
Trim46 G T 3: 89,142,255 (GRCm39) T744N probably benign Het
Tsc1 C A 2: 28,566,141 (GRCm39) A520D probably benign Het
Usp36 T C 11: 118,155,716 (GRCm39) E852G possibly damaging Het
Vmn2r101 C T 17: 19,811,284 (GRCm39) T456I probably benign Het
Zc3h7a A G 16: 10,956,954 (GRCm39) F885S probably damaging Het
Zfp335 G A 2: 164,746,818 (GRCm39) R354W probably damaging Het
Zfp456 C A 13: 67,514,533 (GRCm39) C391F probably damaging Het
Other mutations in 0610030E20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5664:0610030E20Rik UTSW 6 72,325,977 (GRCm39) splice site probably null
R6170:0610030E20Rik UTSW 6 72,325,555 (GRCm39) missense probably benign 0.00
R6284:0610030E20Rik UTSW 6 72,324,437 (GRCm39) missense probably damaging 1.00
R7988:0610030E20Rik UTSW 6 72,324,635 (GRCm39) missense probably damaging 1.00
R9681:0610030E20Rik UTSW 6 72,324,450 (GRCm39) missense probably damaging 1.00
R9726:0610030E20Rik UTSW 6 72,325,650 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTTCTCAAATTTCGAAAGCATCTC -3'
(R):5'- ACACTTGTAGGTCTGGCTTG -3'

Sequencing Primer
(F):5'- AAGTCATGGTCCGCAGC -3'
(R):5'- AGGTCTGGCTTGCGGGG -3'
Posted On 2020-07-13