Incidental Mutation 'R0630:1700056E22Rik'
ID 98935
Institutional Source Beutler Lab
Gene Symbol 1700056E22Rik
Ensembl Gene ENSMUSG00000044854
Gene Name RIKEN cDNA 1700056E22 gene
Synonyms
MMRRC Submission 038819-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0630 (G1)
Quality Score 83
Status Validated
Chromosome 1
Chromosomal Location 183765229-183766195 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 183766104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048655] [ENSMUST00000050306] [ENSMUST00000139839]
AlphaFold F7CNM6
Predicted Effect probably benign
Transcript: ENSMUST00000048655
SMART Domains Protein: ENSMUSP00000045838
Gene: ENSMUSG00000039384

DomainStartEndE-ValueType
low complexity region 33 59 N/A INTRINSIC
low complexity region 92 111 N/A INTRINSIC
low complexity region 124 142 N/A INTRINSIC
RHOD 159 283 1.71e-11 SMART
DSPc 322 462 1.43e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000050306
SMART Domains Protein: ENSMUSP00000055787
Gene: ENSMUSG00000044854

DomainStartEndE-ValueType
SCOP:d1howa_ 12 46 7e-3 SMART
low complexity region 81 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139839
SMART Domains Protein: ENSMUSP00000121433
Gene: ENSMUSG00000039384

DomainStartEndE-ValueType
low complexity region 33 59 N/A INTRINSIC
low complexity region 92 111 N/A INTRINSIC
low complexity region 124 142 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193919
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
Validation Efficiency 97% (108/111)
Allele List at MGI
Other mutations in this stock
Total: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,668,803 (GRCm39) N731K possibly damaging Het
Adgra1 A T 7: 139,432,500 (GRCm39) K113* probably null Het
Adgrl2 T C 3: 148,544,880 (GRCm39) I659M probably damaging Het
Adm G T 7: 110,227,755 (GRCm39) R41L probably damaging Het
Aimp2 T C 5: 143,843,419 (GRCm39) E97G probably benign Het
Aox1 T C 1: 58,376,480 (GRCm39) probably benign Het
Arhgap20 G A 9: 51,760,684 (GRCm39) R809H probably damaging Het
Arsa T C 15: 89,358,207 (GRCm39) probably benign Het
Atg2a G T 19: 6,294,547 (GRCm39) A88S probably damaging Het
Atm G A 9: 53,442,922 (GRCm39) probably benign Het
Atp1a2 A T 1: 172,118,842 (GRCm39) I100N possibly damaging Het
Camta2 G C 11: 70,569,131 (GRCm39) L605V probably damaging Het
Cand2 G A 6: 115,780,766 (GRCm39) E1217K probably damaging Het
Ccdc60 A G 5: 116,274,440 (GRCm39) V388A possibly damaging Het
Cdk14 C T 5: 5,185,422 (GRCm39) probably benign Het
Cdyl2 C T 8: 117,350,774 (GRCm39) G119E probably benign Het
Celsr3 A G 9: 108,704,891 (GRCm39) N458S probably damaging Het
Chd3 A C 11: 69,238,021 (GRCm39) H1808Q probably damaging Het
Cntnap2 T C 6: 46,965,694 (GRCm39) V835A probably damaging Het
Col4a1 C A 8: 11,249,889 (GRCm39) probably benign Het
Cpsf1 A G 15: 76,486,171 (GRCm39) V357A probably damaging Het
Cryzl1 A G 16: 91,504,107 (GRCm39) probably benign Het
Cts8 T C 13: 61,401,256 (GRCm39) K90R possibly damaging Het
Cux1 A G 5: 136,315,689 (GRCm39) V1117A probably damaging Het
Dbx1 T C 7: 49,282,444 (GRCm39) T254A probably damaging Het
Dgki C A 6: 36,977,133 (GRCm39) C659F probably damaging Het
Dnajc1 T G 2: 18,236,612 (GRCm39) D332A probably damaging Het
Dock8 C A 19: 25,038,524 (GRCm39) T70K probably benign Het
Dsc1 T A 18: 20,218,919 (GRCm39) T828S probably damaging Het
Dst T G 1: 34,232,531 (GRCm39) V3510G probably benign Het
Dst T C 1: 34,238,554 (GRCm39) V1738A probably damaging Het
Ehmt2 A G 17: 35,118,818 (GRCm39) T167A probably benign Het
Eri2 A T 7: 119,385,640 (GRCm39) V287E probably benign Het
Fat4 T A 3: 39,054,321 (GRCm39) L4121H probably damaging Het
Fbn1 T A 2: 125,236,690 (GRCm39) D330V possibly damaging Het
Fign A G 2: 63,810,485 (GRCm39) Y262H possibly damaging Het
Fnd3c2 C T X: 105,282,763 (GRCm39) M593I probably benign Het
Fndc7 T A 3: 108,783,931 (GRCm39) E226V probably damaging Het
Gad2 A T 2: 22,580,348 (GRCm39) Q583L probably benign Het
Gcn1 G A 5: 115,719,148 (GRCm39) A334T probably benign Het
Ggt1 A G 10: 75,421,336 (GRCm39) probably null Het
Gli2 C T 1: 118,769,648 (GRCm39) G635R possibly damaging Het
Gm10253 T C 3: 88,646,420 (GRCm39) E93G unknown Het
Gm10428 A G 11: 62,644,256 (GRCm39) probably benign Het
Gm7104 T C 12: 88,252,479 (GRCm39) noncoding transcript Het
Gm8258 T G 5: 104,924,385 (GRCm39) noncoding transcript Het
Gpr107 A G 2: 31,104,309 (GRCm39) N538S possibly damaging Het
Hars1 T C 18: 36,904,442 (GRCm39) E190G probably damaging Het
Hoxc10 C T 15: 102,875,917 (GRCm39) P209S probably benign Het
Ighg3 T C 12: 113,323,714 (GRCm39) probably benign Het
Igsf10 C A 3: 59,233,483 (GRCm39) W1750L probably damaging Het
Igsf5 C A 16: 96,174,023 (GRCm39) probably benign Het
Itga10 T C 3: 96,563,615 (GRCm39) probably benign Het
Ldhd T C 8: 112,353,934 (GRCm39) K422R probably benign Het
Masp1 T C 16: 23,271,169 (GRCm39) K693R probably benign Het
Mb21d2 G A 16: 28,748,324 (GRCm39) A31V probably benign Het
Mbd1 T A 18: 74,409,798 (GRCm39) probably benign Het
Mdm4 G A 1: 132,919,491 (GRCm39) T459I possibly damaging Het
Megf10 A T 18: 57,421,067 (GRCm39) I902F probably benign Het
Mta3 A G 17: 84,022,056 (GRCm39) N37S probably damaging Het
Mterf3 T A 13: 67,060,372 (GRCm39) Y372F probably damaging Het
Nbeal2 A G 9: 110,465,102 (GRCm39) probably benign Het
Nbr1 T C 11: 101,457,913 (GRCm39) probably benign Het
Ndst3 A G 3: 123,355,720 (GRCm39) M103T probably damaging Het
Notch3 C A 17: 32,366,446 (GRCm39) probably benign Het
Npr2 A T 4: 43,641,219 (GRCm39) E415V probably benign Het
Or2n1c A G 17: 38,519,304 (GRCm39) H56R probably damaging Het
Or4k40 T C 2: 111,251,191 (GRCm39) Y35C probably damaging Het
Or52h9 G C 7: 104,202,998 (GRCm39) V291L probably benign Het
Or5be3 A T 2: 86,863,653 (GRCm39) M304K probably benign Het
Or8b50 T A 9: 38,518,192 (GRCm39) F144I probably benign Het
Pappa2 T A 1: 158,660,343 (GRCm39) D1246V probably benign Het
Pcdhgc5 A T 18: 37,954,931 (GRCm39) D735V probably benign Het
Pik3ca A G 3: 32,504,176 (GRCm39) Y622C possibly damaging Het
Plppr2 A G 9: 21,859,197 (GRCm39) D438G probably benign Het
Ppfibp2 A T 7: 107,337,806 (GRCm39) probably null Het
Prdm15 A T 16: 97,638,907 (GRCm39) L77Q probably null Het
Prdm8 T C 5: 98,332,380 (GRCm39) S94P probably damaging Het
Prkdc A T 16: 15,628,665 (GRCm39) Q3470L probably damaging Het
Prl3c1 T C 13: 27,384,674 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,688,076 (GRCm39) H206L probably benign Het
Rack1 G A 11: 48,694,804 (GRCm39) probably benign Het
Rere T C 4: 150,703,545 (GRCm39) L1509P probably damaging Het
Rgma T A 7: 73,067,366 (GRCm39) L301Q probably damaging Het
Rgs6 T A 12: 83,094,324 (GRCm39) probably benign Het
Rictor C A 15: 6,823,973 (GRCm39) R1613S probably damaging Het
Ripk1 T G 13: 34,211,764 (GRCm39) F358C probably damaging Het
Robo2 T C 16: 73,713,093 (GRCm39) D1217G probably benign Het
Shc2 A T 10: 79,461,975 (GRCm39) W357R probably null Het
Slc25a45 T C 19: 5,930,556 (GRCm39) L81P probably damaging Het
Slc9c1 A T 16: 45,363,483 (GRCm39) probably benign Het
Spats2 T C 15: 99,083,909 (GRCm39) probably null Het
Stac3 A T 10: 127,343,632 (GRCm39) E258V probably damaging Het
Thada A G 17: 84,536,603 (GRCm39) S1648P probably damaging Het
Tmem168 T C 6: 13,583,064 (GRCm39) T222A probably benign Het
Tmtc4 T C 14: 123,163,502 (GRCm39) probably benign Het
Trappc14 A G 5: 138,260,551 (GRCm39) S292P probably damaging Het
Trim38 T G 13: 23,975,115 (GRCm39) Y351* probably null Het
Trip12 T C 1: 84,771,636 (GRCm39) R213G possibly damaging Het
Vav3 C T 3: 109,331,328 (GRCm39) R76W probably damaging Het
Vmn1r63 G T 7: 5,806,263 (GRCm39) P123H probably damaging Het
Wdr5 A G 2: 27,410,619 (GRCm39) N130S probably benign Het
Wnk4 C A 11: 101,156,212 (GRCm39) R27S probably damaging Het
Ykt6 G A 11: 5,909,323 (GRCm39) S44N probably benign Het
Ythdc1 T A 5: 86,957,207 (GRCm39) probably benign Het
Other mutations in 1700056E22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0830:1700056E22Rik UTSW 1 183,765,624 (GRCm39) missense probably damaging 0.99
R0973:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R0976:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R1013:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R1103:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R1104:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R1241:1700056E22Rik UTSW 1 183,765,702 (GRCm39) missense probably benign
R1804:1700056E22Rik UTSW 1 183,765,400 (GRCm39) missense probably benign 0.02
R1920:1700056E22Rik UTSW 1 183,765,828 (GRCm39) missense probably benign 0.19
R4705:1700056E22Rik UTSW 1 183,765,369 (GRCm39) missense possibly damaging 0.90
R5135:1700056E22Rik UTSW 1 183,765,703 (GRCm39) missense probably benign
R8412:1700056E22Rik UTSW 1 183,765,356 (GRCm39) missense probably damaging 0.96
Predicted Primers
Posted On 2014-01-10