Incidental Mutation 'IGL02334:Ankrd46'
ID 288803
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd46
Ensembl Gene ENSMUSG00000048307
Gene Name ankyrin repeat domain 46
Synonyms 1110054N06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # IGL02334
Quality Score
Status
Chromosome 15
Chromosomal Location 36477814-36496937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36486079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 58 (V58A)
Ref Sequence ENSEMBL: ENSMUSP00000052521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057486] [ENSMUST00000228601]
AlphaFold Q8BTZ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000057486
AA Change: V58A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000052521
Gene: ENSMUSG00000048307
AA Change: V58A

DomainStartEndE-ValueType
ANK 11 40 5.87e2 SMART
ANK 44 73 6.02e-4 SMART
ANK 77 103 1.06e1 SMART
Blast:ANK 107 136 2e-10 BLAST
transmembrane domain 190 212 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000228601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228630
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dhx16 A G 17: 36,194,949 (GRCm39) E492G probably damaging Het
Dock1 T C 7: 134,747,294 (GRCm39) M1535T probably damaging Het
Evpl G T 11: 116,121,850 (GRCm39) S344* probably null Het
F2 A T 2: 91,463,439 (GRCm39) H148Q probably benign Het
Fam83e A T 7: 45,373,345 (GRCm39) H237L probably benign Het
Fscn3 A T 6: 28,428,153 (GRCm39) probably null Het
Gpr162 C A 6: 124,838,123 (GRCm39) G176C probably damaging Het
Icam5 A G 9: 20,946,505 (GRCm39) D376G possibly damaging Het
Ift172 T C 5: 31,440,402 (GRCm39) K295R probably benign Het
Irf3 A G 7: 44,648,134 (GRCm39) probably benign Het
Itga2 A T 13: 115,001,845 (GRCm39) probably null Het
Klhl11 A T 11: 100,354,662 (GRCm39) D386E probably damaging Het
Myh4 G T 11: 67,136,373 (GRCm39) G417V probably damaging Het
Nlrp3 A G 11: 59,455,909 (GRCm39) T902A probably benign Het
Or2y17 A G 11: 49,232,018 (GRCm39) I220V probably benign Het
Or4a72 A C 2: 89,405,668 (GRCm39) M134R possibly damaging Het
Or9g3 A T 2: 85,590,503 (GRCm39) Y72* probably null Het
Phf10 T C 17: 15,174,361 (GRCm39) Y239C probably damaging Het
Pla2g4e A G 2: 120,017,717 (GRCm39) F203S probably benign Het
Pramel1 T C 4: 143,124,096 (GRCm39) F257S probably damaging Het
Prodh2 A G 7: 30,205,803 (GRCm39) H213R probably damaging Het
Rgs7 C T 1: 175,016,788 (GRCm39) D61N probably damaging Het
Rhobtb1 T A 10: 69,121,508 (GRCm39) probably benign Het
Sct C A 7: 140,858,530 (GRCm39) probably null Het
Slc17a9 G A 2: 180,382,536 (GRCm39) probably null Het
Spire1 T C 18: 67,639,725 (GRCm39) T263A probably benign Het
Trpm1 A T 7: 63,895,690 (GRCm39) probably null Het
Trpm7 G T 2: 126,649,282 (GRCm39) N1469K probably benign Het
Zfp750 G T 11: 121,402,837 (GRCm39) T637K probably benign Het
Zswim5 T C 4: 116,843,841 (GRCm39) C960R probably damaging Het
Zwint T A 10: 72,490,815 (GRCm39) probably null Het
Other mutations in Ankrd46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01619:Ankrd46 APN 15 36,486,113 (GRCm39) missense possibly damaging 0.71
IGL01941:Ankrd46 APN 15 36,486,083 (GRCm39) missense possibly damaging 0.71
IGL02480:Ankrd46 APN 15 36,484,142 (GRCm39) unclassified probably benign
R4897:Ankrd46 UTSW 15 36,484,279 (GRCm39) unclassified probably benign
R5331:Ankrd46 UTSW 15 36,486,175 (GRCm39) missense probably benign 0.03
R5454:Ankrd46 UTSW 15 36,479,447 (GRCm39) missense probably damaging 1.00
R5936:Ankrd46 UTSW 15 36,479,428 (GRCm39) missense probably benign 0.01
R6457:Ankrd46 UTSW 15 36,484,217 (GRCm39) unclassified probably benign
R7860:Ankrd46 UTSW 15 36,479,566 (GRCm39) missense possibly damaging 0.86
R7872:Ankrd46 UTSW 15 36,485,989 (GRCm39) missense possibly damaging 0.51
R8221:Ankrd46 UTSW 15 36,486,001 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16