Incidental Mutation 'R2919:1700001J03Rik'
ID 477496
Institutional Source Beutler Lab
Gene Symbol 1700001J03Rik
Ensembl Gene ENSMUSG00000095040
Gene Name RIKEN cDNA 1700001J03 gene
Synonyms
MMRRC Submission 040504-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R2919 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 146119251-146122114 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 146122001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 27 (R27H)
Ref Sequence ENSEMBL: ENSMUSP00000073399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073721]
AlphaFold Q80ZR8
Predicted Effect probably benign
Transcript: ENSMUST00000073721
AA Change: R27H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000073399
Gene: ENSMUSG00000095040
AA Change: R27H

DomainStartEndE-ValueType
Pfam:RasGEF_N 68 160 1.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199119
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,868,845 (GRCm39) L31Q probably damaging Het
Agbl1 G A 7: 76,064,406 (GRCm39) D53N probably damaging Het
Aloxe3 C T 11: 69,033,749 (GRCm39) T621I probably damaging Het
Als2cl A T 9: 110,726,567 (GRCm39) probably null Het
Atg9b T A 5: 24,596,542 (GRCm39) T125S possibly damaging Het
Casp8ap2 A G 4: 32,645,343 (GRCm39) D1472G probably damaging Het
Cd1d2 C G 3: 86,894,987 (GRCm39) P158A probably damaging Het
Cdc45 A G 16: 18,627,543 (GRCm39) I94T probably benign Het
Chd6 T G 2: 160,809,800 (GRCm39) D1487A possibly damaging Het
Edem2 T C 2: 155,550,947 (GRCm39) Y340C probably damaging Het
Fbxl12 C T 9: 20,553,509 (GRCm39) R26H probably damaging Het
Fgfr3 A G 5: 33,891,284 (GRCm39) N516S probably damaging Het
Gm5884 A G 6: 128,622,021 (GRCm39) noncoding transcript Het
Hdac1-ps A G 17: 78,800,275 (GRCm39) D422G probably damaging Het
Inpp4b C A 8: 82,711,958 (GRCm39) A425E possibly damaging Het
Kif1a A G 1: 92,974,464 (GRCm39) Y964H probably damaging Het
Lrp1b A C 2: 41,660,911 (GRCm39) C66G probably damaging Het
Lrp4 A G 2: 91,321,075 (GRCm39) I1034V probably benign Het
Meak7 G A 8: 120,495,056 (GRCm39) A234V probably benign Het
Mmrn2 T C 14: 34,124,879 (GRCm39) V820A possibly damaging Het
Mphosph9 G A 5: 124,399,069 (GRCm39) T982I probably benign Het
Mroh9 A C 1: 162,884,341 (GRCm39) M399R probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
N4bp2 G A 5: 65,964,441 (GRCm39) G830D probably benign Het
Nagpa G A 16: 5,021,651 (GRCm39) probably benign Het
Or52b1 C T 7: 104,979,067 (GRCm39) V111M probably damaging Het
Or5g23 G A 2: 85,438,754 (GRCm39) P167S probably benign Het
Oxgr1 T A 14: 120,260,221 (GRCm39) probably benign Het
Parp3 T A 9: 106,350,924 (GRCm39) R323W possibly damaging Het
Pfkfb3 C T 2: 11,489,138 (GRCm39) V286I probably benign Het
Pfkp C T 13: 6,643,279 (GRCm39) G513D probably damaging Het
Pla2g4d T C 2: 120,112,108 (GRCm39) probably benign Het
Rtl1 T C 12: 109,557,582 (GRCm39) E1419G unknown Het
Sdf2 G C 11: 78,145,680 (GRCm39) V126L probably damaging Het
Sgk2 T G 2: 162,841,115 (GRCm39) L175R probably damaging Het
Sgk2 C A 2: 162,841,125 (GRCm39) F178L probably damaging Het
Sim1 T C 10: 50,785,911 (GRCm39) Y255H probably benign Het
Slc13a5 T C 11: 72,138,617 (GRCm39) E442G possibly damaging Het
Slc38a3 A T 9: 107,534,886 (GRCm39) I163N probably damaging Het
Slc39a4 A G 15: 76,500,870 (GRCm39) L31P probably damaging Het
Slc5a11 GGTGC G 7: 122,838,595 (GRCm39) probably null Het
Slfnl1 G T 4: 120,390,275 (GRCm39) probably benign Het
Stradb G A 1: 59,031,828 (GRCm39) V247M probably benign Het
Styk1 T A 6: 131,289,967 (GRCm39) probably benign Het
Sult1d1 A G 5: 87,707,614 (GRCm39) probably benign Het
Syk C T 13: 52,765,157 (GRCm39) P95S probably benign Het
Taar2 T A 10: 23,817,454 (GRCm39) N331K probably benign Het
Thsd7b A G 1: 130,117,587 (GRCm39) probably benign Het
Tmbim7 G A 5: 3,723,188 (GRCm39) probably null Het
Tmem107 T C 11: 68,962,247 (GRCm39) L68P probably damaging Het
Tmem184c A T 8: 78,331,276 (GRCm39) C158S probably damaging Het
Tmpo A G 10: 90,988,548 (GRCm39) I310T probably benign Het
Ugt2b5 A G 5: 87,273,266 (GRCm39) F467L possibly damaging Het
Xirp1 T C 9: 119,847,767 (GRCm39) E372G possibly damaging Het
Zbtb5 T C 4: 44,994,790 (GRCm39) E198G probably damaging Het
Zfp804a A G 2: 82,066,160 (GRCm39) N44D probably damaging Het
Other mutations in 1700001J03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02022:1700001J03Rik APN 5 146,120,358 (GRCm39) missense probably damaging 1.00
IGL02141:1700001J03Rik APN 5 146,120,275 (GRCm39) missense probably benign 0.00
IGL02475:1700001J03Rik APN 5 146,119,343 (GRCm39) utr 3 prime probably benign
R0682:1700001J03Rik UTSW 5 146,121,650 (GRCm39) missense probably benign 0.05
R1808:1700001J03Rik UTSW 5 146,121,691 (GRCm39) nonsense probably null
R2083:1700001J03Rik UTSW 5 146,121,681 (GRCm39) missense possibly damaging 0.75
R3753:1700001J03Rik UTSW 5 146,121,677 (GRCm39) missense probably damaging 1.00
R4764:1700001J03Rik UTSW 5 146,122,029 (GRCm39) missense probably benign 0.00
R7242:1700001J03Rik UTSW 5 146,121,677 (GRCm39) missense probably damaging 1.00
R7578:1700001J03Rik UTSW 5 146,120,343 (GRCm39) missense probably damaging 1.00
R7784:1700001J03Rik UTSW 5 146,119,638 (GRCm39) splice site probably null
R9176:1700001J03Rik UTSW 5 146,121,004 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-05-15