Incidental Mutation 'IGL03186:C030048H21Rik'
ID 412484
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C030048H21Rik
Ensembl Gene ENSMUSG00000079537
Gene Name RIKEN cDNA C030048H21 gene
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL03186
Quality Score
Status
Chromosome 2
Chromosomal Location 26133481-26136719 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 26143350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000217256] [ENSMUST00000227200]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000137586
Predicted Effect probably null
Transcript: ENSMUST00000217256
Predicted Effect probably null
Transcript: ENSMUST00000227200
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,581,737 (GRCm39) I4769T possibly damaging Het
Ankrd53 T C 6: 83,740,695 (GRCm39) I106T probably benign Het
Arsi A G 18: 61,050,545 (GRCm39) D476G probably damaging Het
Atp2c1 T C 9: 105,290,329 (GRCm39) K760E probably benign Het
Cep152 A G 2: 125,405,895 (GRCm39) S1546P probably benign Het
Cimap1c T G 9: 56,756,356 (GRCm39) N220T probably benign Het
Clock T C 5: 76,390,929 (GRCm39) H291R probably damaging Het
Fkbp4 T C 6: 128,411,763 (GRCm39) T109A probably benign Het
Igkv1-117 T C 6: 68,098,783 (GRCm39) Y111H probably damaging Het
Kif20b A T 19: 34,912,344 (GRCm39) E250V probably benign Het
Mef2c A G 13: 83,800,987 (GRCm39) N229S probably benign Het
Ndufa9 A G 6: 126,821,855 (GRCm39) V36A possibly damaging Het
Neb T C 2: 52,100,671 (GRCm39) probably benign Het
Neb G A 2: 52,059,100 (GRCm39) H213Y probably damaging Het
Neurl1a T A 19: 47,228,916 (GRCm39) F152Y probably damaging Het
Nlrp14 G T 7: 106,785,877 (GRCm39) C651F probably damaging Het
Or4a2 T A 2: 89,248,188 (GRCm39) T190S probably damaging Het
Or5ac20 A T 16: 59,104,266 (GRCm39) V198E probably damaging Het
Or7g21 T A 9: 19,033,200 (GRCm39) D316E probably benign Het
Pex2 C A 3: 5,626,777 (GRCm39) A11S probably benign Het
Pitpna C A 11: 75,503,076 (GRCm39) H137N probably benign Het
Pole T G 5: 110,447,786 (GRCm39) probably null Het
Rft1 T A 14: 30,380,306 (GRCm39) I35N possibly damaging Het
Serpina1e T C 12: 103,915,462 (GRCm39) H248R probably benign Het
Sgsm1 C T 5: 113,432,887 (GRCm39) A254T probably benign Het
St3gal3 G A 4: 117,797,251 (GRCm39) P331S possibly damaging Het
Ttn T A 2: 76,602,106 (GRCm39) K16773* probably null Het
Zfp687 T C 3: 94,918,405 (GRCm39) T456A probably benign Het
Zranb1 A G 7: 132,551,932 (GRCm39) I220M possibly damaging Het
Other mutations in C030048H21Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00233:C030048H21Rik APN 2 26,146,632 (GRCm39) missense probably damaging 0.98
IGL01380:C030048H21Rik APN 2 26,146,659 (GRCm39) nonsense probably null
IGL01723:C030048H21Rik APN 2 26,144,780 (GRCm39) missense possibly damaging 0.83
R1515:C030048H21Rik UTSW 2 26,147,515 (GRCm39) splice site probably null
R4460:C030048H21Rik UTSW 2 26,145,875 (GRCm39) critical splice donor site probably null
R5517:C030048H21Rik UTSW 2 26,145,899 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02