Incidental Mutation 'R6170:0610030E20Rik'
ID 490375
Institutional Source Beutler Lab
Gene Symbol 0610030E20Rik
Ensembl Gene ENSMUSG00000058706
Gene Name RIKEN cDNA 0610030E20 gene
MMRRC Submission 044431-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R6170 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 72324300-72330131 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72325555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 90 (S90R)
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

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 benign
Transcript: ENSMUST00000077783
AA Change: S90R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000076957
Gene: ENSMUSG00000058706
AA Change: S90R

Pfam:UPF0561 1 126 4.4e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206838
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (68/71)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik C A 1: 159,902,743 (GRCm39) N4K possibly damaging Het
Adgrl2 A G 3: 148,528,645 (GRCm39) S1167P probably damaging Het
Akr1e1 T C 13: 4,652,723 (GRCm39) D94G possibly damaging Het
Anln T C 9: 22,279,793 (GRCm39) N466D probably benign Het
Atp9b T A 18: 80,920,562 (GRCm39) I231L probably benign Het
Bpifb3 T A 2: 153,761,557 (GRCm39) M2K unknown Het
Btbd3 T C 2: 138,120,862 (GRCm39) L12P probably damaging Het
Btnl6 T A 17: 34,734,480 (GRCm39) Y94F probably damaging Het
Cab39 T A 1: 85,746,176 (GRCm39) L19* probably null Het
Cacna2d2 A G 9: 107,404,533 (GRCm39) D1114G probably damaging Het
Cdcp3 A T 7: 130,776,216 (GRCm39) probably null Het
Cdh11 A G 8: 103,361,442 (GRCm39) V632A probably benign Het
Cemip T G 7: 83,596,438 (GRCm39) T1109P possibly damaging Het
Col7a1 C A 9: 108,795,511 (GRCm39) P1522Q unknown Het
Colgalt1 C T 8: 72,074,514 (GRCm39) L409F probably damaging Het
Crtc2 A G 3: 90,166,907 (GRCm39) M125V probably benign Het
Cyp2b19 T G 7: 26,458,519 (GRCm39) M78R possibly damaging Het
Cyp4a12a A C 4: 115,184,643 (GRCm39) D308A possibly damaging Het
D16Ertd472e T C 16: 78,342,155 (GRCm39) T242A probably benign Het
Ddah1 A G 3: 145,597,261 (GRCm39) D166G probably benign Het
Dmtn T C 14: 70,854,795 (GRCm39) D60G probably damaging Het
Dsg1a A T 18: 20,469,043 (GRCm39) D607V probably damaging Het
Ebf1 T A 11: 44,774,712 (GRCm39) N236K probably damaging Het
Emc1 A G 4: 139,093,689 (GRCm39) T600A probably benign Het
Fbxo33 T C 12: 59,251,435 (GRCm39) N360S probably benign Het
Fbxw5 A G 2: 25,393,615 (GRCm39) D72G possibly damaging Het
Fhad1 T A 4: 141,618,263 (GRCm39) K1388* probably null Het
Fzd7 A G 1: 59,523,004 (GRCm39) M296V probably benign Het
Gdpd3 T C 7: 126,370,336 (GRCm39) I257T probably benign Het
Glt28d2 T G 3: 85,779,248 (GRCm39) D75A possibly damaging Het
Gm14295 G A 2: 176,502,937 (GRCm39) probably benign Het
Gm28729 A G 9: 96,401,494 (GRCm39) I98T probably damaging Het
Gm4924 C T 10: 82,213,065 (GRCm39) Q288* probably null Het
Gpr150 T C 13: 76,204,676 (GRCm39) M90V probably damaging Het
Ireb2 G A 9: 54,794,656 (GRCm39) V331I probably benign Het
Lpcat2b A T 5: 107,581,760 (GRCm39) Y363F probably benign Het
Me2 T C 18: 73,918,852 (GRCm39) I410V probably benign Het
Naxe T C 3: 87,965,537 (GRCm39) E58G probably damaging Het
Nlrp10 T A 7: 108,523,671 (GRCm39) D603V probably benign Het
Nlrp1b T A 11: 71,046,905 (GRCm39) Y1149F probably damaging Het
Nrg1 A G 8: 32,308,508 (GRCm39) Y503H probably damaging Het
Nxpe4 C T 9: 48,304,104 (GRCm39) P64S probably benign Het
Pkd1l3 A T 8: 110,349,811 (GRCm39) T219S unknown Het
Plagl1 T C 10: 13,002,975 (GRCm39) L81P probably damaging Het
Poglut3 T C 9: 53,311,042 (GRCm39) V481A possibly damaging Het
Polq A G 16: 36,866,174 (GRCm39) Q457R possibly damaging Het
Potefam1 A G 2: 111,058,293 (GRCm39) Y167H probably benign Het
Ppargc1a C A 5: 51,631,253 (GRCm39) A459S probably damaging Het
Ppp1r13l A G 7: 19,104,362 (GRCm39) D253G probably benign Het
Prl2c2 T A 13: 13,176,757 (GRCm39) N55Y probably damaging Het
Prlr T C 15: 10,328,935 (GRCm39) F470S probably benign Het
Serpina12 T C 12: 104,004,500 (GRCm39) D44G probably benign Het
Sfxn1 T G 13: 54,260,526 (GRCm39) S291R probably benign Het
Sipa1l1 A G 12: 82,388,446 (GRCm39) D224G probably benign Het
Slc30a7 A G 3: 115,784,392 (GRCm39) F123S probably damaging Het
Spata31f1a A G 4: 42,849,345 (GRCm39) V937A probably benign Het
Stox2 T A 8: 47,645,055 (GRCm39) M802L probably benign Het
Tmem150a G A 6: 72,333,728 (GRCm39) R30H probably benign Het
Tmem210 G A 2: 25,178,776 (GRCm39) probably null Het
Tor3a T C 1: 156,484,143 (GRCm39) N269S possibly damaging Het
Trp63 A C 16: 25,703,603 (GRCm39) N423T probably benign Het
Vmn2r60 A G 7: 41,785,045 (GRCm39) I86V possibly damaging Het
Vmn2r74 T C 7: 85,606,348 (GRCm39) I333V probably benign Het
Vwa7 C A 17: 35,240,186 (GRCm39) H385N possibly damaging Het
Wdr1 T C 5: 38,687,014 (GRCm39) probably null Het
Wdr31 A G 4: 62,381,661 (GRCm39) Y57H probably damaging Het
Zbtb44 T A 9: 30,964,678 (GRCm39) H29Q probably damaging Het
Zfp532 T A 18: 65,757,509 (GRCm39) S481T probably damaging Het
Zfp955b G T 17: 33,521,084 (GRCm39) R184S probably benign Het
Other mutations in 0610030E20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5664:0610030E20Rik UTSW 6 72,325,977 (GRCm39) splice site probably null
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
R8228:0610030E20Rik UTSW 6 72,324,500 (GRCm39) critical splice donor site probably null
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

Sequencing Primer
Posted On 2017-10-10