Incidental Mutation 'R6914:2410004P03Rik'
ID 539245
Institutional Source Beutler Lab
Gene Symbol 2410004P03Rik
Ensembl Gene ENSMUSG00000071398
Gene Name RIKEN cDNA 2410004P03 gene
Synonyms
MMRRC Submission 045035-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6914 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 17054958-17061759 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 17061298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 17 (K17*)
Ref Sequence ENSEMBL: ENSMUSP00000140390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095823] [ENSMUST00000189479] [ENSMUST00000190691]
AlphaFold A0A087WQY2
Predicted Effect probably null
Transcript: ENSMUST00000095823
AA Change: K17*
Predicted Effect probably null
Transcript: ENSMUST00000189479
AA Change: K17*
SMART Domains Protein: ENSMUSP00000140028
Gene: ENSMUSG00000071398
AA Change: K17*

DomainStartEndE-ValueType
Pfam:LLC1 52 99 6.6e-6 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000190691
AA Change: K17*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,081,064 (GRCm39) I1183V probably benign Het
Adap2 A G 11: 80,045,891 (GRCm39) D57G probably benign Het
Atmin G T 8: 117,683,452 (GRCm39) V371F probably benign Het
Cacna1h G T 17: 25,604,013 (GRCm39) A1273E probably benign Het
Cblb G A 16: 51,867,793 (GRCm39) E134K probably damaging Het
Ccdc158 A G 5: 92,809,929 (GRCm39) V193A probably benign Het
Cnot9 T A 1: 74,558,154 (GRCm39) V100E probably damaging Het
Cog2 T A 8: 125,271,875 (GRCm39) V463D probably benign Het
Cracd A T 5: 77,004,854 (GRCm39) Q405L unknown Het
Crybg3 C T 16: 59,360,183 (GRCm39) R2500H possibly damaging Het
Csmd3 C A 15: 47,874,534 (GRCm39) R687S possibly damaging Het
Derl3 A G 10: 75,730,050 (GRCm39) probably null Het
Dipk1c A C 18: 84,748,549 (GRCm39) Y49S possibly damaging Het
Dlc1 T C 8: 37,405,364 (GRCm39) K142E probably benign Het
Dnai1 T G 4: 41,625,176 (GRCm39) M380R probably benign Het
Gas7 A T 11: 67,550,977 (GRCm39) probably null Het
Gpt C A 15: 76,581,792 (GRCm39) Q138K probably benign Het
Greb1 T A 12: 16,757,903 (GRCm39) E748V probably damaging Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Hecw1 A C 13: 14,491,423 (GRCm39) L523R probably damaging Het
Hhatl G A 9: 121,617,246 (GRCm39) A329V probably benign Het
Homer3 C T 8: 70,744,201 (GRCm39) T276I probably benign Het
Igdcc4 G A 9: 65,027,550 (GRCm39) S204N probably benign Het
Klhl20 T C 1: 160,921,266 (GRCm39) D63G possibly damaging Het
Mccc2 C A 13: 100,126,858 (GRCm39) D137Y probably damaging Het
Nup42 T A 5: 24,386,082 (GRCm39) S205T probably damaging Het
Pde8b T A 13: 95,223,352 (GRCm39) M301L probably benign Het
Pfas C T 11: 68,883,007 (GRCm39) R759Q probably benign Het
Pom121 A T 5: 135,407,011 (GRCm39) F1175I probably damaging Het
Prom2 T G 2: 127,372,295 (GRCm39) I723L possibly damaging Het
Pth1r C T 9: 110,557,084 (GRCm39) probably null Het
Samd8 T C 14: 21,825,221 (GRCm39) I59T possibly damaging Het
Scgb2b18 A G 7: 32,871,564 (GRCm39) V85A possibly damaging Het
Sema6c G T 3: 95,080,519 (GRCm39) V906L probably benign Het
Sipa1l3 T C 7: 29,085,516 (GRCm39) T694A probably damaging Het
Slc26a2 A C 18: 61,332,351 (GRCm39) I360S probably damaging Het
Slc8a1 A G 17: 81,715,549 (GRCm39) L828P probably damaging Het
Spry1 T A 3: 37,697,193 (GRCm39) D145E probably benign Het
Stat6 A T 10: 127,487,131 (GRCm39) N213Y probably damaging Het
Tbx20 T C 9: 24,636,779 (GRCm39) H436R probably benign Het
Tle2 T C 10: 81,422,190 (GRCm39) Y411H probably damaging Het
Tmem45a T C 16: 56,646,145 (GRCm39) N25S probably benign Het
Trip11 T C 12: 101,812,879 (GRCm39) N1485S probably benign Het
Trrap T A 5: 144,720,853 (GRCm39) I230N possibly damaging Het
Vezt A T 10: 93,806,313 (GRCm39) H699Q probably benign Het
Vmn1r43 T A 6: 89,847,319 (GRCm39) I56F probably benign Het
Other mutations in 2410004P03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:2410004P03Rik APN 12 17,061,172 (GRCm39) missense probably damaging 1.00
R0079:2410004P03Rik UTSW 12 17,057,183 (GRCm39) missense possibly damaging 0.93
R4685:2410004P03Rik UTSW 12 17,057,185 (GRCm39) missense probably damaging 1.00
R6140:2410004P03Rik UTSW 12 17,055,923 (GRCm39) unclassified probably benign
R6184:2410004P03Rik UTSW 12 17,057,179 (GRCm39) missense probably benign 0.35
R7747:2410004P03Rik UTSW 12 17,057,149 (GRCm39) missense probably damaging 1.00
X0021:2410004P03Rik UTSW 12 17,061,345 (GRCm39) start codon destroyed probably null 0.92
Predicted Primers PCR Primer
(F):5'- AGTCACAGTCTGGGTCTAGG -3'
(R):5'- TGAGCTCGAAATCCGGTGAG -3'

Sequencing Primer
(F):5'- CCCCCAAGGTGGATGGAGATG -3'
(R):5'- CTCGAAATCCGGTGAGGGACG -3'
Posted On 2018-11-06