Incidental Mutation 'R2417:9130008F23Rik'
ID249045
Institutional Source Beutler Lab
Gene Symbol 9130008F23Rik
Ensembl Gene ENSMUSG00000054951
Gene NameRIKEN cDNA 9130008F23 gene
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #R2417 (G1)
Quality Score225
Status Not validated
Chromosome17
Chromosomal Location40875482-40880558 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 40880210 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 109 (K109N)
Ref Sequence ENSEMBL: ENSMUSP00000069779 (fasta)
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: 4,208,627 V848A probably benign Het
Ahnak2 G A 12: 112,775,371 P756S probably damaging Het
Alpk3 C A 7: 81,092,753 P773T probably benign Het
Arhgef38 T C 3: 133,146,473 K319E probably damaging Het
Bbs7 C T 3: 36,592,397 A425T probably damaging Het
Cacna1e T A 1: 154,472,193 R879W probably damaging Het
Cfap65 GTCTT GTCTTCTT 1: 74,927,186 probably benign Het
Cpsf7 T C 19: 10,525,968 probably benign Het
Ctf2 A G 7: 127,719,587 V80A probably benign Het
Ddhd1 A G 14: 45,657,272 L30P probably damaging Het
Eml1 A G 12: 108,536,275 D700G probably benign Het
Epha7 C T 4: 28,947,579 P613L probably damaging Het
Fam43b G C 4: 138,395,098 R304G probably benign Het
Itih3 G A 14: 30,917,664 T400I probably benign Het
Lrrc14 T A 15: 76,713,421 L117Q probably damaging Het
Ncbp1 C T 4: 46,168,530 S626L probably benign Het
Nefh C T 11: 4,939,479 D1047N unknown Het
Ptprm T G 17: 66,944,326 T519P probably damaging Het
Sorl1 T G 9: 41,980,711 D1881A probably damaging Het
Sox12 T C 2: 152,396,797 D301G possibly damaging Het
Vmn2r14 C T 5: 109,224,463 E54K probably benign Het
Vmn2r26 A G 6: 124,061,350 N628S probably damaging Het
Zfp143 G A 7: 110,069,596 V36M possibly damaging Het
Zfp850 A T 7: 27,989,183 N533K possibly damaging Het
Other mutations in 9130008F23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00546:9130008F23Rik APN 17 40880113 missense possibly damaging 0.76
R0458:9130008F23Rik UTSW 17 40880236 missense probably benign 0.00
R1400:9130008F23Rik UTSW 17 40880304 missense probably damaging 0.98
R1828:9130008F23Rik UTSW 17 40880071 missense probably benign 0.44
R1889:9130008F23Rik UTSW 17 40880302 missense probably damaging 1.00
R4993:9130008F23Rik UTSW 17 40880161 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 On2014-11-12