Incidental Mutation 'R4030:E030030I06Rik'
ID 313183
Institutional Source Beutler Lab
Gene Symbol E030030I06Rik
Ensembl Gene ENSMUSG00000097327
Gene Name RIKEN cDNA E030030I06 gene
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.898) question?
Stock # R4030 (G1)
Quality Score 193
Status Not validated
Chromosome 10
Chromosomal Location 21988949-22024722 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 22024899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 5 (G5C)
Ref Sequence ENSEMBL: ENSMUSP00000136352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069372] [ENSMUST00000179054]
AlphaFold J3QML9
Predicted Effect unknown
Transcript: ENSMUST00000069372
AA Change: G5C
SMART Domains Protein: ENSMUSP00000065555
Gene: ENSMUSG00000097327
AA Change: G5C

DomainStartEndE-ValueType
low complexity region 20 29 N/A INTRINSIC
low complexity region 34 56 N/A INTRINSIC
PDB:4EZ5|A 107 181 3e-18 PDB
Blast:S_TKc 120 181 2e-16 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000179054
AA Change: G5C
SMART Domains Protein: ENSMUSP00000136352
Gene: ENSMUSG00000097327
AA Change: G5C

DomainStartEndE-ValueType
low complexity region 20 29 N/A INTRINSIC
low complexity region 34 56 N/A INTRINSIC
PDB:4EZ5|A 107 194 3e-17 PDB
Blast:S_TKc 114 194 2e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181614
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181646
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181677
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,668 (GRCm39) S54P probably benign Het
2700062C07Rik C T 18: 24,608,715 (GRCm39) P145L probably benign Het
Akap3 A T 6: 126,841,984 (GRCm39) D201V probably damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Bpifb2 T C 2: 153,733,237 (GRCm39) S400P probably benign Het
Brd7 A T 8: 89,059,559 (GRCm39) I617N probably damaging Het
Cdhr2 C A 13: 54,865,674 (GRCm39) P224Q probably damaging Het
Cdon A G 9: 35,403,202 (GRCm39) N1104S probably damaging Het
Ceacam3 T C 7: 16,892,267 (GRCm39) Y337H probably benign Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cpsf1 G A 15: 76,485,979 (GRCm39) T397M possibly damaging Het
Crhr2 T C 6: 55,094,662 (GRCm39) D32G probably benign Het
Dip2b A G 15: 100,084,053 (GRCm39) Y892C probably damaging Het
Dpyd A G 3: 118,690,815 (GRCm39) D308G probably benign Het
Dsp A G 13: 38,375,404 (GRCm39) N1063S possibly damaging Het
Ehbp1 T C 11: 22,235,498 (GRCm39) T32A probably damaging Het
Fbxo9 C A 9: 78,005,623 (GRCm39) probably null Het
Gpatch3 G A 4: 133,305,458 (GRCm39) R231H possibly damaging Het
Gpr68 A G 12: 100,845,475 (GRCm39) L23P probably damaging Het
H2-Q6 C A 17: 35,644,792 (GRCm39) Q194K probably benign Het
Hmgb1 A G 5: 148,987,510 (GRCm39) M13T probably benign Het
Kdm5a T A 6: 120,382,074 (GRCm39) L706* probably null Het
Krt12 A T 11: 99,312,854 (GRCm39) F63L unknown Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Lgr4 T C 2: 109,820,096 (GRCm39) S102P probably benign Het
Loxl4 A T 19: 42,596,798 (GRCm39) V71E probably damaging Het
Lrrc36 A C 8: 106,153,439 (GRCm39) N83T probably damaging Het
Med26 G A 8: 73,250,413 (GRCm39) R229C probably damaging Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mroh8 T A 2: 157,055,640 (GRCm39) D986V probably damaging Het
Mrpl49 T C 19: 6,105,230 (GRCm39) D77G probably benign Het
Mrps30 T C 13: 118,517,077 (GRCm39) N381D probably damaging Het
Mrtfa G A 15: 80,899,985 (GRCm39) T729I probably benign Het
Omd T A 13: 49,743,125 (GRCm39) N58K probably benign Het
Oog4 A T 4: 143,166,770 (GRCm39) N11K probably benign Het
Or4a75 C A 2: 89,448,207 (GRCm39) V110F probably damaging Het
Plpp5 T A 8: 26,210,631 (GRCm39) L74Q probably damaging Het
Pramel28 T A 4: 143,692,354 (GRCm39) T216S probably benign Het
Prex2 T A 1: 11,278,792 (GRCm39) Y1374N probably benign Het
Rbak A T 5: 143,159,724 (GRCm39) I443K probably damaging Het
Rhpn1 A T 15: 75,582,406 (GRCm39) S195C probably damaging Het
Rnf115 T A 3: 96,693,299 (GRCm39) I210N probably damaging Het
Rock2 G A 12: 17,025,480 (GRCm39) V1234I probably damaging Het
Scube2 A G 7: 109,430,978 (GRCm39) V407A probably benign Het
Serpina3n G T 12: 104,377,660 (GRCm39) probably null Het
Shisal2a G T 4: 108,240,412 (GRCm39) C43* probably null Het
Slco2b1 A G 7: 99,332,032 (GRCm39) L283P probably damaging Het
Spag1 G A 15: 36,234,447 (GRCm39) V736M probably damaging Het
Srebf2 T A 15: 82,062,984 (GRCm39) C434S probably damaging Het
Ston2 T C 12: 91,615,037 (GRCm39) Q457R possibly damaging Het
Trhr2 T C 8: 123,087,438 (GRCm39) M1V probably null Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn2r105 T C 17: 20,429,016 (GRCm39) R687G probably damaging Het
Vmn2r73 T C 7: 85,521,044 (GRCm39) Y308C possibly damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zfyve9 A G 4: 108,576,898 (GRCm39) V61A possibly damaging Het
Other mutations in E030030I06Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4647:E030030I06Rik UTSW 10 22,024,744 (GRCm39) missense unknown
R4648:E030030I06Rik UTSW 10 22,024,744 (GRCm39) missense unknown
R4914:E030030I06Rik UTSW 10 21,990,197 (GRCm39) missense possibly damaging 0.65
R6029:E030030I06Rik UTSW 10 22,024,832 (GRCm39) missense unknown
R6836:E030030I06Rik UTSW 10 22,024,391 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCGTACTCTCTGACTTACACG -3'
(R):5'- ATTGAGCCGTGACACTGATG -3'

Sequencing Primer
(F):5'- TAGACGGACCGACCTTCTC -3'
(R):5'- ACTCCGGGCACACTCTG -3'
Posted On 2015-04-30