Incidental Mutation 'IGL01534:B230307C23Rik'
ID89906
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B230307C23Rik
Ensembl Gene ENSMUSG00000080717
Gene NameRIKEN cDNA B230307C23 gene
SynonymsEG245305
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01534
Quality Score
Status
Chromosome16
Chromosomal Location97997315-98031801 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 98008761 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113729] [ENSMUST00000122450] [ENSMUST00000231913] [ENSMUST00000231936] [ENSMUST00000232278] [ENSMUST00000232308] [ENSMUST00000232346] [ENSMUST00000232387]
Predicted Effect probably benign
Transcript: ENSMUST00000113729
SMART Domains Protein: ENSMUSP00000109358
Gene: ENSMUSG00000080717

DomainStartEndE-ValueType
KRAB 3 56 6.22e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122450
SMART Domains Protein: ENSMUSP00000113241
Gene: ENSMUSG00000080717

DomainStartEndE-ValueType
KRAB 4 57 6.22e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000231913
Predicted Effect probably benign
Transcript: ENSMUST00000231936
Predicted Effect probably benign
Transcript: ENSMUST00000232278
Predicted Effect probably benign
Transcript: ENSMUST00000232308
Predicted Effect probably benign
Transcript: ENSMUST00000232346
Predicted Effect probably benign
Transcript: ENSMUST00000232387
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,368,081 L111P possibly damaging Het
Adck5 C A 15: 76,594,726 H383Q probably damaging Het
Asns T A 6: 7,675,397 H535L probably benign Het
Atf5 A G 7: 44,813,038 S221P probably damaging Het
Atr T C 9: 95,865,546 Y294H probably damaging Het
C1qtnf6 C T 15: 78,525,216 E144K probably benign Het
Casp8ap2 C T 4: 32,648,134 probably benign Het
Cd48 C A 1: 171,695,739 P50Q possibly damaging Het
Cnnm4 T C 1: 36,499,515 Y593H probably benign Het
Col27a1 G A 4: 63,225,782 R569Q probably benign Het
Cubn A T 2: 13,465,933 C549* probably null Het
Dsg1a T A 18: 20,340,996 M1042K probably benign Het
Dzip1 T A 14: 118,877,239 T835S probably damaging Het
Eif3c T C 7: 126,557,695 T389A probably benign Het
Erlin2 G T 8: 27,031,957 E177* probably null Het
Fam172a T A 13: 77,999,711 probably benign Het
Gabrb1 T A 5: 71,869,429 S91T possibly damaging Het
Grik3 T C 4: 125,686,190 V576A probably damaging Het
Gtpbp2 T A 17: 46,163,504 Y70N probably damaging Het
Idh3a T A 9: 54,601,222 probably benign Het
Ift74 G A 4: 94,679,944 R406H probably benign Het
Kcna7 C A 7: 45,406,511 N50K probably damaging Het
Kcnd2 T C 6: 21,726,145 S546P probably benign Het
Lrp4 G A 2: 91,473,641 D134N probably damaging Het
Mcm2 A G 6: 88,887,718 probably null Het
Nlrp12 T C 7: 3,239,833 Y683C probably benign Het
Olfr1104 A G 2: 87,021,884 I220T probably damaging Het
Olfr114 A T 17: 37,590,072 Y94N possibly damaging Het
Olfr1499 T A 19: 13,815,302 H96L probably benign Het
Olfr1502 A T 19: 13,861,919 N42I probably damaging Het
Olfr710 T A 7: 106,944,339 I221F probably damaging Het
P2rx7 A C 5: 122,676,698 I409L probably damaging Het
Pde10a A G 17: 8,944,970 N191S probably damaging Het
Rabggtb A G 3: 153,910,259 probably null Het
Rgs4 A T 1: 169,744,516 C71* probably null Het
Rnase10 T C 14: 51,007,979 F5L probably benign Het
Scn11a T A 9: 119,780,822 T987S probably benign Het
Shox2 A C 3: 66,978,363 D126E probably benign Het
Slc12a1 A G 2: 125,217,910 D910G probably damaging Het
Slc15a1 C T 14: 121,464,952 C594Y possibly damaging Het
Spock2 C T 10: 60,127,061 probably benign Het
Togaram1 G T 12: 64,966,547 D191Y probably damaging Het
Triml2 T C 8: 43,187,623 V172A probably benign Het
Tubb3 C T 8: 123,420,966 R213C probably benign Het
Vmn2r4 A T 3: 64,406,423 V379E probably damaging Het
Zfp446 C T 7: 12,979,566 P153L probably damaging Het
Zfp608 A T 18: 54,898,932 N645K probably damaging Het
Other mutations in B230307C23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02316:B230307C23Rik APN 16 98008650 missense probably damaging 1.00
R3686:B230307C23Rik UTSW 16 98008999 missense probably benign 0.14
R3687:B230307C23Rik UTSW 16 98008999 missense probably benign 0.14
R5255:B230307C23Rik UTSW 16 98008691 missense possibly damaging 0.89
R6880:B230307C23Rik UTSW 16 97997427 start gained probably benign
R7060:B230307C23Rik UTSW 16 98010131 missense probably benign 0.01
Posted On2013-12-03