Incidental Mutation 'IGL03406:A530016L24Rik'
ID 421612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A530016L24Rik
Ensembl Gene ENSMUSG00000043122
Gene Name RIKEN cDNA A530016L24 gene
Synonyms Nrac
Accession Numbers
Essential gene? Probably non essential (E-score: 0.017) question?
Stock # IGL03406
Quality Score
Status
Chromosome 12
Chromosomal Location 112455882-112466361 bp(+) (GRCm39)
Type of Mutation splice site (4855 bp from exon)
DNA Base Change (assembly) T to A at 112463317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152792 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057465] [ENSMUST00000066791] [ENSMUST00000222836] [ENSMUST00000223266]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000057465
AA Change: I47N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056220
Gene: ENSMUSG00000043122
AA Change: I47N

DomainStartEndE-ValueType
Pfam:DUF4658 32 165 4e-47 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000066791
SMART Domains Protein: ENSMUSP00000068004
Gene: ENSMUSG00000054013

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
transmembrane domain 102 124 N/A INTRINSIC
transmembrane domain 171 193 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000222836
Predicted Effect probably damaging
Transcript: ENSMUST00000223266
AA Change: I47N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 C T 8: 89,044,947 (GRCm39) R228* probably null Het
Cdcp1 T C 9: 123,014,378 (GRCm39) H132R probably benign Het
Cfap107 A G 4: 144,150,414 (GRCm39) Y56H probably damaging Het
Cyp4a32 T C 4: 115,459,500 (GRCm39) I78T probably benign Het
Fap A T 2: 62,372,466 (GRCm39) probably benign Het
Gad1-ps C T 10: 99,280,641 (GRCm39) noncoding transcript Het
Gli3 T C 13: 15,823,166 (GRCm39) I296T probably damaging Het
H2-Q2 T C 17: 35,561,801 (GRCm39) V97A probably benign Het
Hr T A 14: 70,800,860 (GRCm39) probably null Het
Itgax C T 7: 127,748,370 (GRCm39) T1133I possibly damaging Het
L3mbtl2 G A 15: 81,566,194 (GRCm39) R339H probably damaging Het
Mast4 T C 13: 102,873,615 (GRCm39) K1726E possibly damaging Het
Nlrc5 T C 8: 95,203,483 (GRCm39) Y528H probably benign Het
Nmnat3 G A 9: 98,281,530 (GRCm39) G44D probably damaging Het
Nol8 A T 13: 49,815,044 (GRCm39) D366V probably damaging Het
Or13a25 C A 7: 140,247,424 (GRCm39) L68M probably damaging Het
Pde4d A T 13: 110,091,125 (GRCm39) probably benign Het
Ptpn22 C A 3: 103,819,332 (GRCm39) N795K probably benign Het
Rabgap1l A T 1: 160,549,739 (GRCm39) V289D probably damaging Het
Slc50a1 T C 3: 89,177,408 (GRCm39) D40G possibly damaging Het
Slco6b1 T C 1: 96,875,310 (GRCm39) noncoding transcript Het
Smarcad1 T A 6: 65,069,510 (GRCm39) F530Y probably damaging Het
Spag6 A G 2: 18,747,684 (GRCm39) probably benign Het
Supt16 A T 14: 52,415,598 (GRCm39) I379N possibly damaging Het
Tmem154 A G 3: 84,591,567 (GRCm39) N39S probably benign Het
Ubash3b T A 9: 40,948,775 (GRCm39) Y180F probably damaging Het
Usp48 T A 4: 137,366,606 (GRCm39) D921E possibly damaging Het
Zdhhc20 T C 14: 58,076,556 (GRCm39) T366A probably benign Het
Zfp456 A T 13: 67,514,450 (GRCm39) C419S probably damaging Het
Zfp69 T C 4: 120,788,281 (GRCm39) T345A probably benign Het
Other mutations in A530016L24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02835:A530016L24Rik UTSW 12 112,461,420 (GRCm39) critical splice acceptor site probably null
R5678:A530016L24Rik UTSW 12 112,463,306 (GRCm39) missense probably damaging 1.00
Z1177:A530016L24Rik UTSW 12 112,461,510 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02