Incidental Mutation 'R3687:B230307C23Rik'
ID 269592
Institutional Source Beutler Lab
Gene Symbol B230307C23Rik
Ensembl Gene ENSMUSG00000080717
Gene Name RIKEN cDNA B230307C23 gene
Synonyms EG245305
MMRRC Submission 040683-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R3687 (G1)
Quality Score 225
Status 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: 97.1%
  • 20x: 94.7%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 G A 7: 139,432,506 (GRCm39) V115M probably damaging Het
Atp11c T C X: 59,327,004 (GRCm39) Y431C probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign 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
C2cd3 C T 7: 100,085,040 (GRCm39) P1544L probably benign Het
Cd44 G A 2: 102,731,695 (GRCm39) probably null Het
Col10a1 A G 10: 34,271,494 (GRCm39) T489A probably benign Het
Dgkk T C X: 6,804,631 (GRCm39) probably benign Het
Efcab6 G A 15: 83,755,479 (GRCm39) Q1323* probably null Het
Eftud2 T C 11: 102,735,027 (GRCm39) E624G probably damaging Het
Elmo3 G A 8: 106,035,468 (GRCm39) probably null Het
Galnt13 A T 2: 54,770,074 (GRCm39) T289S probably benign Het
Gm16485 T C 9: 8,972,382 (GRCm39) probably benign Het
Gm43302 A T 5: 105,428,132 (GRCm39) V143D probably damaging Het
Gpr18 T C 14: 122,149,873 (GRCm39) T51A probably damaging Het
Hr T A 14: 70,795,236 (GRCm39) N289K probably damaging Het
Ighv1-24 T A 12: 114,736,700 (GRCm39) I67F probably damaging Het
Ksr2 A G 5: 117,693,044 (GRCm39) Q164R probably damaging Het
Myo3b A G 2: 70,075,658 (GRCm39) E554G probably benign Het
Or10u4 A T 10: 129,802,581 (GRCm39) probably null Het
Or5b99 G A 19: 12,976,466 (GRCm39) G39R probably damaging Het
Or8b101 A G 9: 38,020,177 (GRCm39) Y60C probably damaging Het
Pclo A G 5: 14,719,009 (GRCm39) T1049A unknown Het
Pkhd1l1 T C 15: 44,409,983 (GRCm39) S2497P probably benign Het
Ppm1f T C 16: 16,741,747 (GRCm39) V407A probably damaging Het
Ppox A G 1: 171,105,066 (GRCm39) L374S probably damaging Het
Prkdc T C 16: 15,617,831 (GRCm39) Y3221H probably benign Het
Ptprk A T 10: 28,349,039 (GRCm39) I520F probably damaging Het
Pus10 T C 11: 23,617,334 (GRCm39) F16L probably benign Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rab3d A T 9: 21,826,204 (GRCm39) M101K probably damaging Het
Rangap1 A T 15: 81,602,963 (GRCm39) M154K possibly damaging Het
Slc25a17 A G 15: 81,211,485 (GRCm39) F177S probably benign Het
Tas2r114 T C 6: 131,666,231 (GRCm39) T266A probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trem3 T A 17: 48,564,955 (GRCm39) V152D probably damaging Het
Vmn2r4 T A 3: 64,296,896 (GRCm39) I630F possibly damaging Het
Vwa5b2 C A 16: 20,410,308 (GRCm39) probably benign Het
Zfp518b A T 5: 38,831,455 (GRCm39) H183Q probably 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
R3686: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'- TGAACTTCACTCGAGAAGAATGGG -3'
(R):5'- TAGCTGTACTGTGGCTATGATTCAA -3'

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