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
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.017) question?
Stock # IGL03406
Quality Score
Status
Chromosome 12
Chromosomal Location 112489448-112499927 bp(+) (GRCm38)
Type of Mutation splice site (4855 bp from exon)
DNA Base Change (assembly) T to A at 112496883 bp (GRCm38)
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
1700012P22Rik A G 4: 144,423,844 Y56H probably damaging Het
Adcy7 C T 8: 88,318,319 R228* probably null Het
Cdcp1 T C 9: 123,185,313 H132R probably benign Het
Cyp4a32 T C 4: 115,602,303 I78T probably benign Het
Fap A T 2: 62,542,122 probably benign Het
Gad1-ps C T 10: 99,444,779 noncoding transcript Het
Gli3 T C 13: 15,648,581 I296T probably damaging Het
H2-Q2 T C 17: 35,342,825 V97A probably benign Het
Hr T A 14: 70,563,420 probably null Het
Itgax C T 7: 128,149,198 T1133I possibly damaging Het
L3mbtl2 G A 15: 81,681,993 R339H probably damaging Het
Mast4 T C 13: 102,737,107 K1726E possibly damaging Het
Nlrc5 T C 8: 94,476,855 Y528H probably benign Het
Nmnat3 G A 9: 98,399,477 G44D probably damaging Het
Nol8 A T 13: 49,661,568 D366V probably damaging Het
Olfr539 C A 7: 140,667,511 L68M probably damaging Het
Pde4d A T 13: 109,954,591 probably benign Het
Ptpn22 C A 3: 103,912,016 N795K probably benign Het
Rabgap1l A T 1: 160,722,169 V289D probably damaging Het
Slc50a1 T C 3: 89,270,101 D40G possibly damaging Het
Slco6b1 T C 1: 96,947,585 noncoding transcript Het
Smarcad1 T A 6: 65,092,526 F530Y probably damaging Het
Spag6 A G 2: 18,742,873 probably benign Het
Supt16 A T 14: 52,178,141 I379N possibly damaging Het
Tmem154 A G 3: 84,684,260 N39S probably benign Het
Ubash3b T A 9: 41,037,479 Y180F probably damaging Het
Usp48 T A 4: 137,639,295 D921E possibly damaging Het
Zdhhc20 T C 14: 57,839,099 T366A probably benign Het
Zfp456 A T 13: 67,366,331 C419S probably damaging Het
Zfp69 T C 4: 120,931,084 T345A probably benign Het
Other mutations in A530016L24Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02835:A530016L24Rik UTSW 12 112494986 critical splice acceptor site probably null
R5678:A530016L24Rik UTSW 12 112496872 missense probably damaging 1.00
Z1177:A530016L24Rik UTSW 12 112495076 missense probably damaging 1.00
Posted On 2016-08-02