Incidental Mutation 'IGL01619:Ankrd46'
ID 92516
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 # IGL01619
Quality Score
Status
Chromosome 15
Chromosomal Location 36477814-36496937 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36486113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 47 (T47A)
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: T47A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000052521
Gene: ENSMUSG00000048307
AA Change: T47A

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asxl3 T G 18: 22,656,385 (GRCm39) V1465G probably damaging Het
Celsr3 A T 9: 108,711,756 (GRCm39) D1657V probably damaging Het
Celsr3 A G 9: 108,714,603 (GRCm39) H1995R probably benign Het
Cimip2b G A 4: 43,427,814 (GRCm39) T170I possibly damaging Het
Cntn6 G A 6: 104,705,335 (GRCm39) probably benign Het
Def6 C T 17: 28,426,838 (GRCm39) L8F probably damaging Het
Dnah9 T A 11: 65,722,441 (GRCm39) K1940* probably null Het
Dock10 A G 1: 80,612,015 (GRCm39) probably benign Het
Fam72a A G 1: 131,461,650 (GRCm39) I112V probably benign Het
Fgl1 A T 8: 41,650,008 (GRCm39) W258R probably damaging Het
Ints6l G T X: 55,542,104 (GRCm39) probably benign Het
Lifr A T 15: 7,220,643 (GRCm39) N1091I probably damaging Het
Mga T C 2: 119,762,309 (GRCm39) I1100T possibly damaging Het
Mrpl40 T A 16: 18,691,294 (GRCm39) M139L probably benign Het
Myom1 T C 17: 71,351,471 (GRCm39) probably benign Het
Or2m12 T A 16: 19,104,909 (GRCm39) T195S probably damaging Het
Pcdhb5 T C 18: 37,455,992 (GRCm39) F791L probably damaging Het
Prss29 T C 17: 25,540,113 (GRCm39) probably null Het
Ranbp2 A G 10: 58,299,900 (GRCm39) probably null Het
Serpinb9e A G 13: 33,439,108 (GRCm39) K178R probably damaging Het
Shtn1 A G 19: 59,016,601 (GRCm39) S233P probably damaging Het
Smpd1 G A 7: 105,204,549 (GRCm39) V143M possibly damaging Het
Terb1 G A 8: 105,199,646 (GRCm39) H433Y probably benign Het
Traf6 C T 2: 101,520,443 (GRCm39) Q164* probably null Het
Trip12 C A 1: 84,792,631 (GRCm39) R4L probably damaging Het
Ttn G A 2: 76,693,879 (GRCm39) P208S possibly damaging Het
Ube2c T C 2: 164,613,232 (GRCm39) I50T probably damaging Het
Uggt1 T C 1: 36,200,775 (GRCm39) D1174G probably damaging Het
Vmn2r121 T G X: 123,041,997 (GRCm39) M387L probably benign Het
Vmn2r18 T A 5: 151,510,229 (GRCm39) N48I probably benign Het
Zc3h15 T C 2: 83,490,517 (GRCm39) L217P probably damaging Het
Zyg11a T A 4: 108,062,414 (GRCm39) E129V probably damaging Het
Other mutations in Ankrd46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01941:Ankrd46 APN 15 36,486,083 (GRCm39) missense possibly damaging 0.71
IGL02334:Ankrd46 APN 15 36,486,079 (GRCm39) missense possibly damaging 0.51
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 2013-12-09