Incidental Mutation 'IGL02316:B230307C23Rik'
ID 288024
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B230307C23Rik
Ensembl Gene ENSMUSG00000080717
Gene Name RIKEN cDNA B230307C23 gene
Synonyms EG245305
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02316
Quality Score
Status
Chromosome 16
Chromosomal Location 97798278-97817956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 97809850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 9 (V9M)
Ref Sequence ENSEMBL: ENSMUSP00000156366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113729] [ENSMUST00000122450] [ENSMUST00000231913] [ENSMUST00000231936] [ENSMUST00000232278] [ENSMUST00000232308] [ENSMUST00000232346] [ENSMUST00000232387]
AlphaFold A0A338P6F4
Predicted Effect probably damaging
Transcript: ENSMUST00000113729
AA Change: V8M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109358
Gene: ENSMUSG00000080717
AA Change: V8M

DomainStartEndE-ValueType
KRAB 3 56 6.22e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122450
AA Change: V9M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113241
Gene: ENSMUSG00000080717
AA Change: V9M

DomainStartEndE-ValueType
KRAB 4 57 6.22e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000231913
AA Change: V9M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000231936
AA Change: V9M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000232278
AA Change: V9M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000232308
AA Change: V9M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232346
Predicted Effect probably damaging
Transcript: ENSMUST00000232387
AA Change: V9M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c13 G T 13: 4,253,458 (GRCm39) probably benign Het
Arhgap26 C T 18: 38,775,599 (GRCm39) noncoding transcript Het
Atp5f1b T C 10: 127,920,178 (GRCm39) V108A probably benign Het
Ccdc85c T A 12: 108,177,829 (GRCm39) H321L probably damaging Het
Diaph3 A T 14: 87,223,551 (GRCm39) M321K possibly damaging Het
Dicer1 G A 12: 104,668,812 (GRCm39) A1290V probably damaging Het
Dnah6 G A 6: 73,145,894 (GRCm39) T839M probably benign Het
Eif3a G A 19: 60,760,076 (GRCm39) probably benign Het
Eml1 T C 12: 108,501,018 (GRCm39) probably benign Het
Exoc4 A G 6: 33,887,519 (GRCm39) Q769R probably damaging Het
Fam184a T G 10: 53,514,335 (GRCm39) T426P probably damaging Het
Fsip2 C A 2: 82,809,137 (GRCm39) H1819N probably benign Het
Gm6686 T A 17: 15,786,500 (GRCm39) probably benign Het
Hadha T C 5: 30,331,565 (GRCm39) S464G probably benign Het
Ighv5-17 A T 12: 113,822,775 (GRCm39) C115* probably null Het
Jmjd6 T C 11: 116,733,928 (GRCm39) Y31C possibly damaging Het
Klrb1-ps1 G A 6: 129,093,532 (GRCm39) noncoding transcript Het
Mgat1 T C 11: 49,152,185 (GRCm39) Y223H probably damaging Het
Muc4 T C 16: 32,569,668 (GRCm39) S243P possibly damaging Het
Numa1 T C 7: 101,650,577 (GRCm39) L69P probably damaging Het
Or11h6 T C 14: 50,879,744 (GRCm39) I2T probably benign Het
Or1j21 A T 2: 36,683,632 (GRCm39) H128L probably damaging Het
Or1j4 C A 2: 36,740,294 (GRCm39) P79T probably damaging Het
Or4p23 A G 2: 88,577,187 (GRCm39) F15S probably damaging Het
Pde1c A T 6: 56,128,336 (GRCm39) D332E possibly damaging Het
Pitpnm1 A G 19: 4,162,835 (GRCm39) I1143V probably benign Het
Rsl1 T A 13: 67,325,120 (GRCm39) probably null Het
Scg2 A C 1: 79,413,398 (GRCm39) L442V probably damaging Het
Sez6l A T 5: 112,610,828 (GRCm39) V530E probably damaging Het
Ubr4 T C 4: 139,200,489 (GRCm39) I4655T possibly damaging Het
Zcwpw1 T C 5: 137,808,272 (GRCm39) probably benign Het
Other mutations in B230307C23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:B230307C23Rik APN 16 97,809,961 (GRCm39) splice site probably benign
R3686:B230307C23Rik UTSW 16 97,810,199 (GRCm39) missense probably benign 0.14
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
Posted On 2015-04-16