Incidental Mutation 'R5065:2310009B15Rik'
ID 388280
Institutional Source Beutler Lab
Gene Symbol 2310009B15Rik
Ensembl Gene ENSMUSG00000079283
Gene Name RIKEN cDNA 2310009B15 gene
Synonyms
MMRRC Submission 042655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # R5065 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 138779721-138784590 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 138779893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 120 (N120Y)
Ref Sequence ENSEMBL: ENSMUSP00000107656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046870] [ENSMUST00000093486] [ENSMUST00000112025] [ENSMUST00000112030] [ENSMUST00000193374]
AlphaFold A0A0A6YWI4
Predicted Effect probably benign
Transcript: ENSMUST00000046870
SMART Domains Protein: ENSMUSP00000036480
Gene: ENSMUSG00000019230

DomainStartEndE-ValueType
LIM 61 114 4.48e-17 SMART
LIM 123 177 8.04e-19 SMART
HOX 258 320 8.07e-22 SMART
low complexity region 344 368 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093486
SMART Domains Protein: ENSMUSP00000091198
Gene: ENSMUSG00000019230

DomainStartEndE-ValueType
LIM 61 114 4.48e-17 SMART
LIM 123 177 8.04e-19 SMART
HOX 258 310 1.89e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112025
AA Change: N120Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000112030
SMART Domains Protein: ENSMUSP00000107661
Gene: ENSMUSG00000019230

DomainStartEndE-ValueType
LIM 61 114 4.48e-17 SMART
LIM 123 177 8.04e-19 SMART
HOX 258 310 1.89e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193374
SMART Domains Protein: ENSMUSP00000141565
Gene: ENSMUSG00000079283

DomainStartEndE-ValueType
low complexity region 75 89 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195075
Meta Mutation Damage Score 0.5441 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik G A 5: 99,382,432 (GRCm39) T272M probably benign Het
Aldh9a1 A G 1: 167,180,128 (GRCm39) E74G probably damaging Het
Asxl3 C G 18: 22,658,356 (GRCm39) A2122G possibly damaging Het
Bcl2l10 A T 9: 75,255,261 (GRCm39) E26V possibly damaging Het
Cspg4b T A 13: 113,457,453 (GRCm39) H1166Q probably benign Het
Dennd2a C A 6: 39,472,110 (GRCm39) probably null Het
Dock3 A G 9: 106,832,883 (GRCm39) F129L probably damaging Het
Gm4847 A T 1: 166,462,359 (GRCm39) I377N probably damaging Het
Gm8674 T C 13: 50,056,613 (GRCm39) noncoding transcript Het
Hhipl2 A T 1: 183,207,580 (GRCm39) H433L probably benign Het
Hsfy2 G A 1: 56,675,626 (GRCm39) Q304* probably null Het
Ighg2c T C 12: 113,251,708 (GRCm39) I140V unknown Het
Kmt2a T C 9: 44,753,997 (GRCm39) probably benign Het
Map3k5 A G 10: 19,958,213 (GRCm39) E671G probably damaging Het
Map6 A G 7: 98,985,917 (GRCm39) D607G probably benign Het
Mroh4 C T 15: 74,500,119 (GRCm39) probably null Het
Or10g6 A G 9: 39,934,546 (GRCm39) I286V probably benign Het
Pcsk6 A G 7: 65,560,047 (GRCm39) D124G possibly damaging Het
Pkhd1l1 T A 15: 44,445,689 (GRCm39) N3790K possibly damaging Het
Polr3b C A 10: 84,468,402 (GRCm39) N129K probably benign Het
Ptpn23 A T 9: 110,227,256 (GRCm39) L31Q possibly damaging Het
Sema3c A G 5: 17,932,615 (GRCm39) N706S possibly damaging Het
Sipa1l2 T C 8: 126,218,324 (GRCm39) I338V probably benign Het
Slc39a7 A G 17: 34,250,033 (GRCm39) probably benign Het
Snd1 C A 6: 28,888,239 (GRCm39) N891K probably damaging Het
Sntg1 A G 1: 8,433,663 (GRCm39) probably benign Het
Stxbp5 A T 10: 9,646,295 (GRCm39) L780Q probably damaging Het
Tacr1 G A 6: 82,531,859 (GRCm39) V252M possibly damaging Het
Tdrp T C 8: 14,003,791 (GRCm39) E182G probably damaging Het
Vmn1r58 A G 7: 5,413,834 (GRCm39) I132T probably benign Het
Wap A T 11: 6,586,840 (GRCm39) N86K probably damaging Het
Other mutations in 2310009B15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02514:2310009B15Rik APN 1 138,779,909 (GRCm39) nonsense probably null
R1992:2310009B15Rik UTSW 1 138,781,380 (GRCm39) missense probably damaging 0.99
R2351:2310009B15Rik UTSW 1 138,779,846 (GRCm39) nonsense probably null
R4748:2310009B15Rik UTSW 1 138,784,394 (GRCm39) missense possibly damaging 0.46
R4887:2310009B15Rik UTSW 1 138,779,903 (GRCm39) nonsense probably null
R5858:2310009B15Rik UTSW 1 138,781,343 (GRCm39) missense probably benign 0.08
R6568:2310009B15Rik UTSW 1 138,779,872 (GRCm39) missense possibly damaging 0.69
R6957:2310009B15Rik UTSW 1 138,779,857 (GRCm39) missense probably damaging 1.00
R7079:2310009B15Rik UTSW 1 138,779,865 (GRCm39) missense possibly damaging 0.84
R7213:2310009B15Rik UTSW 1 138,781,367 (GRCm39) missense probably damaging 1.00
RF019:2310009B15Rik UTSW 1 138,784,429 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AACGTGCATCTTGTGGACCTTC -3'
(R):5'- GAAGTGGTTCCTGGATCCTAATTAGG -3'

Sequencing Primer
(F):5'- CGTGCATCTTGTGGACCTTCTTTTG -3'
(R):5'- GGGCTGCTTAACCAAAGTTC -3'
Posted On 2016-06-06