Incidental Mutation 'R1808:1700001J03Rik'
ID 203591
Institutional Source Beutler Lab
Gene Symbol 1700001J03Rik
Ensembl Gene ENSMUSG00000095040
Gene Name RIKEN cDNA 1700001J03 gene
Synonyms
MMRRC Submission 039837-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R1808 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 146119251-146122114 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 146121691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 69 (Y69*)
Ref Sequence ENSEMBL: ENSMUSP00000073399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073721]
AlphaFold Q80ZR8
Predicted Effect probably null
Transcript: ENSMUST00000073721
AA Change: Y69*
SMART Domains Protein: ENSMUSP00000073399
Gene: ENSMUSG00000095040
AA Change: Y69*

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: 97.5%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310011J03Rik A G 10: 80,156,015 (GRCm39) probably null Het
A2ml1 A C 6: 128,520,262 (GRCm39) D1367E probably damaging Het
Adam6a C G 12: 113,508,334 (GRCm39) L236V probably benign Het
Arf3 T C 15: 98,638,954 (GRCm39) N101S probably benign Het
Arhgap42 T C 9: 9,180,051 (GRCm39) E76G probably damaging Het
Atp2a1 A G 7: 126,052,573 (GRCm39) F382S probably damaging Het
Bud13 T A 9: 46,199,705 (GRCm39) F355L probably benign Het
C2 G A 17: 35,083,508 (GRCm39) P349S probably damaging Het
Cbl C A 9: 44,075,526 (GRCm39) G373V probably damaging Het
Ccdc3 T A 2: 5,142,896 (GRCm39) L51Q probably damaging Het
Ccdc34 T A 2: 109,874,601 (GRCm39) M320K probably benign Het
Cntln A G 4: 85,015,000 (GRCm39) E1097G probably damaging Het
Ctsc A C 7: 87,948,750 (GRCm39) K195Q possibly damaging Het
Ctsf C T 19: 4,906,562 (GRCm39) P163L probably benign Het
Dcxr A T 11: 120,616,438 (GRCm39) probably null Het
Dgki T C 6: 37,126,509 (GRCm39) E157G possibly damaging Het
Dnah8 T C 17: 30,903,160 (GRCm39) L933P probably damaging Het
Dtna T C 18: 23,702,697 (GRCm39) L76P probably damaging Het
Fcgbp T A 7: 27,784,515 (GRCm39) C192S probably benign Het
Galnt5 T A 2: 57,916,137 (GRCm39) D683E probably benign Het
Greb1l G A 18: 10,542,143 (GRCm39) A1297T probably benign Het
Grik4 T C 9: 42,540,322 (GRCm39) N286S probably benign Het
Hrc A T 7: 44,986,202 (GRCm39) E451V probably damaging Het
Hrh3 G A 2: 179,741,577 (GRCm39) probably benign Het
Ints13 A G 6: 146,455,695 (GRCm39) I152T probably damaging Het
Irgm1 A T 11: 48,757,259 (GRCm39) V184D probably damaging Het
Itga5 C T 15: 103,258,826 (GRCm39) A791T probably damaging Het
Kcp T C 6: 29,505,654 (GRCm39) T73A probably benign Het
Kidins220 A G 12: 25,053,008 (GRCm39) T433A probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Kmt2d T C 15: 98,764,567 (GRCm39) D12G probably damaging Het
Mms19 A G 19: 41,954,698 (GRCm39) S74P probably damaging Het
Myh1 G T 11: 67,102,300 (GRCm39) E864* probably null Het
Nek1 A G 8: 61,469,264 (GRCm39) D107G probably damaging Het
Npc1 T C 18: 12,327,149 (GRCm39) N1149D probably damaging Het
Or14j6 T A 17: 38,214,661 (GRCm39) S75T probably damaging Het
Or3a1b C A 11: 74,012,257 (GRCm39) S47R probably damaging Het
Or4k36 T C 2: 111,146,343 (GRCm39) V173A probably benign Het
Or5p79 A C 7: 108,221,817 (GRCm39) K266T possibly damaging Het
Osbp T C 19: 11,948,142 (GRCm39) S150P probably damaging Het
Paf1 T C 7: 28,096,247 (GRCm39) Y287H probably damaging Het
Pdgfrb T C 18: 61,201,174 (GRCm39) V420A probably benign Het
Pdss1 G T 2: 22,796,846 (GRCm39) E120* probably null Het
Pink1 A T 4: 138,044,630 (GRCm39) V339E probably damaging Het
Pkn3 C T 2: 29,969,663 (GRCm39) R58C probably damaging Het
Pm20d1 G A 1: 131,730,165 (GRCm39) V235I probably benign Het
Ppp2r2a A G 14: 67,276,412 (GRCm39) I31T probably damaging Het
Rbms3 T C 9: 116,651,894 (GRCm39) E152G probably damaging Het
Rfx1 A C 8: 84,821,677 (GRCm39) Q804H probably damaging Het
Rpe G T 1: 66,754,356 (GRCm39) V143L probably benign Het
Sap30l G T 11: 57,700,771 (GRCm39) V142L probably benign Het
Sh3tc1 T C 5: 35,863,268 (GRCm39) Q973R probably benign Het
Slc10a2 T C 8: 5,154,856 (GRCm39) T110A probably damaging Het
Snrnp200 A T 2: 127,060,947 (GRCm39) probably null Het
Snrnp200 G A 2: 127,060,948 (GRCm39) probably null Het
Spaca3 T A 11: 80,758,511 (GRCm39) V158E probably damaging Het
Sprtn C A 8: 125,629,770 (GRCm39) N354K probably benign Het
Stab1 T A 14: 30,863,101 (GRCm39) Y2166F possibly damaging Het
Tmem106c G A 15: 97,866,548 (GRCm39) probably null Het
Tnc A G 4: 63,918,168 (GRCm39) S1248P probably damaging Het
Tshr T C 12: 91,504,090 (GRCm39) F343L probably benign Het
Ttn C A 2: 76,555,698 (GRCm39) A30436S probably damaging Het
Ubxn2a A T 12: 4,935,839 (GRCm39) M68K probably benign Het
Ucp2 T C 7: 100,148,021 (GRCm39) V238A probably damaging Het
Urgcp C A 11: 5,667,242 (GRCm39) L365F probably damaging Het
Vezt A T 10: 93,826,026 (GRCm39) D328E probably damaging Het
Vmn1r168 G T 7: 23,240,184 (GRCm39) V14L probably benign Het
Vps13b T C 15: 35,792,205 (GRCm39) F2158L probably benign 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
R2083:1700001J03Rik UTSW 5 146,121,681 (GRCm39) missense possibly damaging 0.75
R2919:1700001J03Rik UTSW 5 146,122,001 (GRCm39) missense probably benign 0.00
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 PCR Primer
(F):5'- AACACTGCCAGGGTCCAATC -3'
(R):5'- GACACTGAGGAGCATTCTTGATG -3'

Sequencing Primer
(F):5'- TCCTGGAGAAGAGCAGAACTC -3'
(R):5'- CACTGAGGAGCATTCTTGATGATTGC -3'
Posted On 2014-06-23