Incidental Mutation 'R3686:B230307C23Rik'
ID 269547
Institutional Source Beutler Lab
Gene Symbol B230307C23Rik
Ensembl Gene ENSMUSG00000080717
Gene Name RIKEN cDNA B230307C23 gene
Synonyms EG245305
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R3686 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 97798278-97817956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 97810199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 62 (N62K)
Ref Sequence ENSEMBL: ENSMUSP00000155960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113729] [ENSMUST00000122450] [ENSMUST00000231913] [ENSMUST00000231936] [ENSMUST00000232278] [ENSMUST00000232308] [ENSMUST00000232346] [ENSMUST00000232387]
AlphaFold A0A338P6F4
Predicted Effect probably benign
Transcript: ENSMUST00000113729
AA Change: N61K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000109358
Gene: ENSMUSG00000080717
AA Change: N61K

DomainStartEndE-ValueType
KRAB 3 56 6.22e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122450
AA Change: N62K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000113241
Gene: ENSMUSG00000080717
AA Change: N62K

DomainStartEndE-ValueType
KRAB 4 57 6.22e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231913
AA Change: N62K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000231936
AA Change: N62K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000232278
Predicted Effect probably benign
Transcript: ENSMUST00000232308
AA Change: N62K

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000232346
Predicted Effect probably benign
Transcript: ENSMUST00000232387
AA Change: N62K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb16 T A 11: 102,159,885 (GRCm39) D79E probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
B3galnt2 G A 13: 14,150,220 (GRCm39) probably null Het
Bnip2 T A 9: 69,906,432 (GRCm39) Y118N probably damaging Het
Bptf C A 11: 106,965,024 (GRCm39) R1275L probably benign Het
Cacna1g T C 11: 94,349,916 (GRCm39) probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cdh4 T C 2: 179,422,160 (GRCm39) S95P probably benign Het
Ceacam5 G A 7: 17,494,748 (GRCm39) E919K possibly damaging Het
Eftud2 T C 11: 102,735,027 (GRCm39) E624G probably damaging Het
Hr T A 14: 70,795,236 (GRCm39) N289K probably damaging Het
Hsp90ab1 A G 17: 45,880,214 (GRCm39) Y110H probably damaging Het
Map3k1 A G 13: 111,890,425 (GRCm39) V1258A probably damaging Het
Naa11 A T 5: 97,539,648 (GRCm39) V170E probably benign Het
Nmd3 C T 3: 69,654,095 (GRCm39) R413C probably damaging Het
Or4k51 G T 2: 111,584,914 (GRCm39) V107F probably benign Het
Or56b2 A G 7: 104,337,599 (GRCm39) I126V probably benign Het
Pgm3 G T 9: 86,441,563 (GRCm39) P345T probably benign Het
Ptpn14 C A 1: 189,583,596 (GRCm39) D814E probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Ros1 A T 10: 52,021,912 (GRCm39) V624E probably damaging Het
Sgo2b T C 8: 64,384,361 (GRCm39) K212E probably benign Het
Shisa2 T A 14: 59,867,228 (GRCm39) L160Q probably damaging Het
Strn4 A G 7: 16,556,506 (GRCm39) Y123C probably damaging Het
Sycp2 T C 2: 178,016,177 (GRCm39) T762A probably benign Het
Tiam2 A G 17: 3,471,959 (GRCm39) K534E possibly damaging Het
Trdn A T 10: 33,344,185 (GRCm39) D633V probably benign Het
Ttn T C 2: 76,747,333 (GRCm39) Y4572C possibly damaging Het
Unc79 T A 12: 103,054,920 (GRCm39) N921K probably damaging Het
Vmn2r66 A G 7: 84,644,397 (GRCm39) V671A probably damaging Het
Wdr86 T A 5: 24,923,339 (GRCm39) T118S probably damaging Het
Zfp446 T A 7: 12,716,580 (GRCm39) I517N probably damaging Het
Zfp830 G A 11: 82,656,188 (GRCm39) E331K possibly damaging Het
Other mutations in B230307C23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:B230307C23Rik APN 16 97,809,961 (GRCm39) splice site probably benign
IGL02316:B230307C23Rik APN 16 97,809,850 (GRCm39) missense probably damaging 1.00
R3687:B230307C23Rik UTSW 16 97,810,199 (GRCm39) missense probably benign 0.14
R5255:B230307C23Rik UTSW 16 97,809,891 (GRCm39) missense possibly damaging 0.89
R6880:B230307C23Rik UTSW 16 97,798,627 (GRCm39) start gained probably benign
R7060:B230307C23Rik UTSW 16 97,811,331 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATGTGTTGACCCATGATGATGT -3'
(R):5'- GGAACTATGTGTTAGGACATTGTTT -3'

Sequencing Primer
(F):5'- GCCTCTACAAAGATGTGATGCTG -3'
(R):5'- ATGTGTTAGGACATTGTTTCCTCATC -3'
Posted On 2015-02-19