Incidental Mutation 'IGL02487:B230217C12Rik'
ID 295465
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B230217C12Rik
Ensembl Gene ENSMUSG00000050538
Gene Name RIKEN cDNA B230217C12 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02487
Quality Score
Status
Chromosome 11
Chromosomal Location 97731961-97734263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97733054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 125 (N125S)
Ref Sequence ENSEMBL: ENSMUSP00000127204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043843] [ENSMUST00000054783] [ENSMUST00000155954] [ENSMUST00000164364] [ENSMUST00000170806]
AlphaFold E9Q3Z1
Predicted Effect probably benign
Transcript: ENSMUST00000043843
SMART Domains Protein: ENSMUSP00000042123
Gene: ENSMUSG00000038366

DomainStartEndE-ValueType
LIM 4 56 4.34e-15 SMART
NEBU 62 92 1.1e-8 SMART
NEBU 98 128 1.05e-9 SMART
low complexity region 174 180 N/A INTRINSIC
SH3 207 263 8.11e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054783
AA Change: N125S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000155954
Predicted Effect probably benign
Transcript: ENSMUST00000164364
Predicted Effect probably benign
Transcript: ENSMUST00000170806
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 T A 11: 54,227,769 (GRCm39) I308N possibly damaging Het
Adal C T 2: 120,985,877 (GRCm39) T204I probably benign Het
Akirin1 A G 4: 123,637,357 (GRCm39) F76S probably benign Het
Arhgef5 A T 6: 43,260,916 (GRCm39) N1447I probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Dcaf11 G T 14: 55,806,571 (GRCm39) K457N probably benign Het
Dnah10 G A 5: 124,870,916 (GRCm39) V2348M possibly damaging Het
Eif4g3 T C 4: 137,930,689 (GRCm39) V1665A possibly damaging Het
Fat4 A T 3: 38,941,394 (GRCm39) I96F probably damaging Het
Gm29253 T C 1: 75,149,321 (GRCm39) probably null Het
Gvin-ps6 A G 7: 106,022,471 (GRCm39) noncoding transcript Het
Hnrnpm C A 17: 33,867,787 (GRCm39) G676C probably damaging Het
Iah1 T C 12: 21,371,440 (GRCm39) M185T probably damaging Het
Klc1 A T 12: 111,738,886 (GRCm39) I45F probably damaging Het
Lce1h G A 3: 92,671,048 (GRCm39) P35S unknown Het
Lrrc37a T C 11: 103,386,863 (GRCm39) E2419G unknown Het
Lrrc8c T A 5: 105,754,457 (GRCm39) S77R probably benign Het
Mcm3ap T A 10: 76,343,389 (GRCm39) probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Ntng1 A T 3: 109,842,363 (GRCm39) S137T probably damaging Het
Odf2 C A 2: 29,810,851 (GRCm39) A578E possibly damaging Het
Pecam1 G A 11: 106,562,606 (GRCm39) T698I probably damaging Het
Pex10 A T 4: 155,155,190 (GRCm39) H288L probably damaging Het
Pkhd1l1 T C 15: 44,322,822 (GRCm39) V36A possibly damaging Het
Podxl T C 6: 31,499,957 (GRCm39) *504W probably null Het
Rab42 A G 4: 132,029,614 (GRCm39) S203P probably benign Het
Rsf1 T C 7: 97,288,698 (GRCm39) S192P probably damaging Het
Scap C T 9: 110,207,758 (GRCm39) T489I probably benign Het
Sost C A 11: 101,857,633 (GRCm39) R56L possibly damaging Het
Speer4a3 T A 5: 26,156,605 (GRCm39) I125F probably benign Het
Spmip10 T A 18: 56,727,571 (GRCm39) W90R possibly damaging Het
Sptbn4 A G 7: 27,118,522 (GRCm39) V264A probably damaging Het
Stx3 A G 19: 11,760,469 (GRCm39) V236A probably damaging Het
Syt2 T C 1: 134,668,603 (GRCm39) F5S probably damaging Het
Thrap3 T C 4: 126,060,794 (GRCm39) D855G possibly damaging Het
Ticrr T C 7: 79,332,769 (GRCm39) V874A possibly damaging Het
Tmem26 A G 10: 68,614,563 (GRCm39) E326G probably benign Het
Tsga13 A T 6: 30,884,362 (GRCm39) Y119N probably damaging Het
Tspoap1 C T 11: 87,653,342 (GRCm39) T136I possibly damaging Het
Ttc21b T C 2: 66,065,500 (GRCm39) T425A probably benign Het
Ttc27 A G 17: 75,163,549 (GRCm39) Y719C probably damaging Het
Usp10 C A 8: 120,675,514 (GRCm39) S511Y probably damaging Het
Vmn1r197 A G 13: 22,512,792 (GRCm39) M238V probably damaging Het
Other mutations in B230217C12Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02537:B230217C12Rik APN 11 97,733,011 (GRCm39) missense possibly damaging 0.83
R0800:B230217C12Rik UTSW 11 97,732,086 (GRCm39) unclassified probably benign
R3151:B230217C12Rik UTSW 11 97,733,014 (GRCm39) frame shift probably null
R7731:B230217C12Rik UTSW 11 97,732,226 (GRCm39) missense unknown
Posted On 2015-04-16