Incidental Mutation 'R8044:4921524J17Rik'
ID 618671
Institutional Source Beutler Lab
Gene Symbol 4921524J17Rik
Ensembl Gene ENSMUSG00000036934
Gene Name RIKEN cDNA 4921524J17 gene
Synonyms
MMRRC Submission 067481-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # R8044 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 86135388-86159462 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86138747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 114 (E114G)
Ref Sequence ENSEMBL: ENSMUSP00000040975 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047749] [ENSMUST00000209355]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000047749
AA Change: E114G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040975
Gene: ENSMUSG00000036934
AA Change: E114G

DomainStartEndE-ValueType
Pfam:UPF0547 14 38 5.4e-12 PFAM
low complexity region 62 71 N/A INTRINSIC
coiled coil region 104 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209355
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 ACCAGCCC ACC 14: 118,852,682 (GRCm39) probably null Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Asb7 T C 7: 66,309,511 (GRCm39) N235S probably benign Het
Atrn A T 2: 130,777,449 (GRCm39) N166I probably damaging Het
Cd300ld2 C T 11: 114,904,545 (GRCm39) W107* probably null Het
Chl1 A T 6: 103,683,593 (GRCm39) E806D probably damaging Het
Dnajb12 A G 10: 59,732,172 (GRCm39) K337R possibly damaging Het
Dock5 T C 14: 68,062,141 (GRCm39) D409G probably damaging Het
Efhb G A 17: 53,706,143 (GRCm39) S798L probably benign Het
Gpd1 T C 15: 99,621,083 (GRCm39) F322S probably damaging Het
Gria4 A G 9: 4,456,216 (GRCm39) Y695H probably damaging Het
Ipo8 A G 6: 148,711,421 (GRCm39) F289S probably damaging Het
Jakmip1 A G 5: 37,311,988 (GRCm39) E72G unknown Het
Mettl14 T C 3: 123,163,309 (GRCm39) N366S probably benign Het
Ntrk2 A G 13: 59,274,313 (GRCm39) T730A probably damaging Het
Or5b101 T C 19: 13,004,829 (GRCm39) Y288C probably damaging Het
Otop3 T C 11: 115,237,261 (GRCm39) L575P probably damaging Het
Piwil2 T C 14: 70,628,887 (GRCm39) S710G possibly damaging Het
Pramel32 T G 4: 88,548,212 (GRCm39) E64D possibly damaging Het
Ptpra A G 2: 130,386,881 (GRCm39) K627E possibly damaging Het
Rab24 A G 13: 55,469,345 (GRCm39) probably benign Het
Rbm20 C A 19: 53,806,402 (GRCm39) A494D probably benign Het
Rpe65 T C 3: 159,320,342 (GRCm39) F300L probably benign Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Tert A G 13: 73,783,568 (GRCm39) E590G probably damaging Het
Tlr4 C A 4: 66,746,084 (GRCm39) L6I probably benign Het
Trim3 G A 7: 105,262,465 (GRCm39) silent Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Ube3a A T 7: 58,926,320 (GRCm39) H387L possibly damaging Het
Ugt1a7c G A 1: 88,023,278 (GRCm39) V146M probably damaging Het
Upf2 T C 2: 6,034,249 (GRCm39) I974T unknown Het
Vmn1r38 A T 6: 66,753,516 (GRCm39) I200N probably benign Het
Wnt5b A G 6: 119,423,319 (GRCm39) V115A probably damaging Het
Xpo7 C A 14: 70,922,366 (GRCm39) R574L probably benign Het
Other mutations in 4921524J17Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:4921524J17Rik APN 8 86,138,871 (GRCm39) missense probably benign 0.00
R7472:4921524J17Rik UTSW 8 86,159,438 (GRCm39) start gained probably benign
R8082:4921524J17Rik UTSW 8 86,136,468 (GRCm39) missense possibly damaging 0.51
R8422:4921524J17Rik UTSW 8 86,138,918 (GRCm39) missense possibly damaging 0.81
R8695:4921524J17Rik UTSW 8 86,138,870 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- GCGCTCAAAACTCAGCACTG -3'
(R):5'- GCAAGTTGTTGTTGCGAAGC -3'

Sequencing Primer
(F):5'- AATTGAACTCAGGACCTCTGG -3'
(R):5'- TTTATCCATACAGAAAACAAGCACG -3'
Posted On 2020-01-23