Incidental Mutation 'R5664:0610030E20Rik'
ID 444256
Institutional Source Beutler Lab
Gene Symbol 0610030E20Rik
Ensembl Gene ENSMUSG00000058706
Gene Name RIKEN cDNA 0610030E20 gene
Synonyms
MMRRC Submission 043307-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5664 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 72347317-72353148 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 72348994 bp (GRCm38)
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 noncoding transcript
Transcript: ENSMUST00000204152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205578
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206838
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810032O08Rik A T 11: 116,672,664 (GRCm38) T27S possibly damaging Het
4930432K21Rik A T 8: 84,166,659 (GRCm38) I152F probably benign Het
9430015G10Rik T A 4: 156,123,559 (GRCm38) L112H probably damaging Het
Acaca T C 11: 84,243,384 (GRCm38) L441P probably damaging Het
Ank3 G A 10: 70,002,565 (GRCm38) R1566K possibly damaging Het
Arsj A T 3: 126,438,657 (GRCm38) I351F probably damaging Het
Atp6v1b2 A G 8: 69,107,620 (GRCm38) T373A probably damaging Het
Atr C A 9: 95,905,813 (GRCm38) N1486K probably benign Het
Avl9 T C 6: 56,753,839 (GRCm38) S583P probably damaging Het
Bptf A T 11: 107,073,699 (GRCm38) D1493E probably benign Het
C2cd2l T C 9: 44,313,772 (GRCm38) E548G probably damaging Het
Capn3 G A 2: 120,477,025 (GRCm38) R15Q probably benign Het
Ccl3 A G 11: 83,649,213 (GRCm38) F22S probably benign Het
Clcf1 T C 19: 4,222,096 (GRCm38) F69S probably damaging Het
Col13a1 T C 10: 61,851,116 (GRCm38) E170G probably damaging Het
Dhx29 T A 13: 112,946,879 (GRCm38) F489L probably damaging Het
Dhx8 A T 11: 101,740,751 (GRCm38) N390I probably damaging Het
Dkk1 T A 19: 30,548,789 (GRCm38) Y135F probably benign Het
Edil3 G T 13: 89,319,713 (GRCm38) V446F probably damaging Het
Epha5 T A 5: 84,331,866 (GRCm38) E93V probably damaging Het
Epsti1 C T 14: 77,963,664 (GRCm38) T196I possibly damaging Het
Fras1 T C 5: 96,728,535 (GRCm38) S2376P possibly damaging Het
Frem2 A G 3: 53,652,490 (GRCm38) V1532A probably benign Het
Fsip2 T A 2: 82,988,095 (GRCm38) M4724K probably benign Het
Gcat T A 15: 79,043,073 (GRCm38) L238Q probably damaging Het
Gimap6 T C 6: 48,702,275 (GRCm38) K276E probably benign Het
Gjb5 T A 4: 127,355,929 (GRCm38) I141F probably benign Het
Glt6d1 T C 2: 25,814,180 (GRCm38) I7V probably benign Het
Gm37596 A G 3: 93,692,687 (GRCm38) F125S probably benign Het
Gm5771 C T 6: 41,394,671 (GRCm38) P17L probably benign Het
Gm6169 C A 13: 97,099,121 (GRCm38) L39F probably damaging Het
Gtf2h5 G A 17: 6,084,524 (GRCm38) G30R probably damaging Het
Herc6 C A 6: 57,618,684 (GRCm38) T449K probably benign Het
Hpn A T 7: 31,099,262 (GRCm38) Y132N probably damaging Het
Hpx A T 7: 105,595,148 (GRCm38) M190K probably benign Het
Inf2 A G 12: 112,611,728 (GRCm38) H1151R unknown Het
Krt74 A G 15: 101,760,579 (GRCm38) noncoding transcript Het
Loxl3 G A 6: 83,049,882 (GRCm38) S564N probably benign Het
Map7 T A 10: 20,267,359 (GRCm38) V418E unknown Het
Mrpl37 T C 4: 107,064,391 (GRCm38) N214D probably benign Het
Mthfr T C 4: 148,055,466 (GRCm38) Y656H probably damaging Het
Myo9b A G 8: 71,359,882 (GRCm38) D2099G probably benign Het
Nktr T A 9: 121,749,417 (GRCm38) C825* probably null Het
Nomo1 A G 7: 46,076,157 (GRCm38) E1029G probably benign Het
Nup133 T C 8: 123,906,281 (GRCm38) D1037G probably benign Het
Olfr1271 A G 2: 90,265,615 (GRCm38) F272L probably damaging Het
Olfr153 T C 2: 87,532,834 (GRCm38) L267P probably benign Het
Pcdhb14 T A 18: 37,448,996 (GRCm38) V385D possibly damaging Het
Pik3c2g T C 6: 139,737,007 (GRCm38) L38P probably damaging Het
Pkd1 A T 17: 24,569,371 (GRCm38) D701V probably damaging Het
Pnpla6 A G 8: 3,537,478 (GRCm38) T1070A probably damaging Het
Ppl T C 16: 5,106,055 (GRCm38) D185G probably benign Het
Prune1 A T 3: 95,258,178 (GRCm38) L261Q probably damaging Het
Qser1 A T 2: 104,778,196 (GRCm38) L1444I probably damaging Het
Serpina6 A C 12: 103,654,467 (GRCm38) C8G probably damaging Het
Sla2 A T 2: 156,874,999 (GRCm38) D180E probably benign Het
Slc4a4 C T 5: 89,028,244 (GRCm38) L25F probably damaging Het
Tbx3 A G 5: 119,678,731 (GRCm38) K311R possibly damaging Het
Thbs2 A T 17: 14,689,837 (GRCm38) C167S probably damaging Het
Trak1 T A 9: 121,472,307 (GRCm38) C710S possibly damaging Het
Tsks G A 7: 44,953,784 (GRCm38) E337K probably damaging Het
Vcpip1 A G 1: 9,746,379 (GRCm38) I593T probably damaging Het
Vmn2r118 A G 17: 55,592,765 (GRCm38) I713T possibly damaging Het
Vmn2r23 C T 6: 123,713,074 (GRCm38) T303M probably damaging Het
Vmn2r68 A T 7: 85,233,770 (GRCm38) M258K probably benign Het
Vmn2r76 A G 7: 86,245,994 (GRCm38) probably null Het
Wap A G 11: 6,638,609 (GRCm38) I5T possibly damaging Het
Zfp235 A C 7: 24,142,151 (GRCm38) H665P probably damaging Het
Other mutations in 0610030E20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6170:0610030E20Rik UTSW 6 72,348,572 (GRCm38) missense probably benign 0.00
R6284:0610030E20Rik UTSW 6 72,347,454 (GRCm38) missense probably damaging 1.00
R7988:0610030E20Rik UTSW 6 72,347,652 (GRCm38) missense probably damaging 1.00
R8228:0610030E20Rik UTSW 6 72,347,517 (GRCm38) critical splice donor site probably null
R9681:0610030E20Rik UTSW 6 72,347,467 (GRCm38) missense probably damaging 1.00
R9726:0610030E20Rik UTSW 6 72,348,667 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCACATAGAGATTCCTAGTTGGGG -3'
(R):5'- ATGGACTCATCCTGACACCC -3'

Sequencing Primer
(F):5'- ATTCCTAGTTGGGGGAACAGG -3'
(R):5'- CCAAACTAGGGGTGAGCTC -3'
Posted On 2016-11-09