Incidental Mutation 'R2417:9130008F23Rik'
ID 249045
Institutional Source Beutler Lab
Gene Symbol 9130008F23Rik
Ensembl Gene ENSMUSG00000054951
Gene Name RIKEN cDNA 9130008F23 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R2417 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 41186373-41191449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41191101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 109 (K109N)
Ref Sequence ENSEMBL: ENSMUSP00000069779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068258]
AlphaFold Q9D2Z6
Predicted Effect probably benign
Transcript: ENSMUST00000068258
AA Change: K109N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 T C 12: 4,258,627 (GRCm39) V848A probably benign Het
Ahnak2 G A 12: 112,741,805 (GRCm39) P756S probably damaging Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Arhgef38 T C 3: 132,852,234 (GRCm39) K319E probably damaging Het
Bbs7 C T 3: 36,646,546 (GRCm39) A425T probably damaging Het
Cacna1e T A 1: 154,347,939 (GRCm39) R879W probably damaging Het
Cfap65 GTCTT GTCTTCTT 1: 74,966,345 (GRCm39) probably benign Het
Cpsf7 T C 19: 10,503,332 (GRCm39) probably benign Het
Ctf2 A G 7: 127,318,759 (GRCm39) V80A probably benign Het
Ddhd1 A G 14: 45,894,729 (GRCm39) L30P probably damaging Het
Eml1 A G 12: 108,502,534 (GRCm39) D700G probably benign Het
Epha7 C T 4: 28,947,579 (GRCm39) P613L probably damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Itih3 G A 14: 30,639,621 (GRCm39) T400I probably benign Het
Lrrc14 T A 15: 76,597,621 (GRCm39) L117Q probably damaging Het
Ncbp1 C T 4: 46,168,530 (GRCm39) S626L probably benign Het
Nefh C T 11: 4,889,479 (GRCm39) D1047N unknown Het
Ptprm T G 17: 67,251,321 (GRCm39) T519P probably damaging Het
Sorl1 T G 9: 41,892,007 (GRCm39) D1881A probably damaging Het
Sox12 T C 2: 152,238,717 (GRCm39) D301G possibly damaging Het
Vmn2r14 C T 5: 109,372,329 (GRCm39) E54K probably benign Het
Vmn2r26 A G 6: 124,038,309 (GRCm39) N628S probably damaging Het
Zfp143 G A 7: 109,668,803 (GRCm39) V36M possibly damaging Het
Zfp850 A T 7: 27,688,608 (GRCm39) N533K possibly damaging Het
Other mutations in 9130008F23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:9130008F23Rik APN 17 41,191,004 (GRCm39) missense possibly damaging 0.76
R0458:9130008F23Rik UTSW 17 41,191,127 (GRCm39) missense probably benign 0.00
R1400:9130008F23Rik UTSW 17 41,191,195 (GRCm39) missense probably damaging 0.98
R1828:9130008F23Rik UTSW 17 41,190,962 (GRCm39) missense probably benign 0.44
R1889:9130008F23Rik UTSW 17 41,191,193 (GRCm39) missense probably damaging 1.00
R4993:9130008F23Rik UTSW 17 41,191,052 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- TCTCCCTCTGTGTCCGAAAG -3'
(R):5'- TGCCCAATCAATAGCAAGTGGG -3'

Sequencing Primer
(F):5'- TGACTGCGGTCACAGAAC -3'
(R):5'- AGTGGGAACTTGAGAAAGCAG -3'
Posted On 2014-11-12