Incidental Mutation 'IGL01619:Ankrd46'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd46
Ensembl Gene ENSMUSG00000048307
Gene Nameankyrin repeat domain 46
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL01619
Quality Score
Chromosomal Location36477668-36496820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36485967 bp
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]
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

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: 22,523,328 V1465G probably damaging Het
Celsr3 A G 9: 108,837,404 H1995R probably benign Het
Celsr3 A T 9: 108,834,557 D1657V probably damaging Het
Cntn6 G A 6: 104,728,374 probably benign Het
Def6 C T 17: 28,207,864 L8F probably damaging Het
Dnah9 T A 11: 65,831,615 K1940* probably null Het
Dock10 A G 1: 80,634,298 probably benign Het
Fam166b G A 4: 43,427,814 T170I possibly damaging Het
Fam72a A G 1: 131,533,912 I112V probably benign Het
Fgl1 A T 8: 41,196,971 W258R probably damaging Het
Ints6l G T X: 56,496,744 probably benign Het
Lifr A T 15: 7,191,162 N1091I probably damaging Het
Mga T C 2: 119,931,828 I1100T possibly damaging Het
Mrpl40 T A 16: 18,872,544 M139L probably benign Het
Myom1 T C 17: 71,044,476 probably benign Het
Olfr164 T A 16: 19,286,159 T195S probably damaging Het
Pcdhb5 T C 18: 37,322,939 F791L probably damaging Het
Prss29 T C 17: 25,321,139 probably null Het
Ranbp2 A G 10: 58,464,078 probably null Het
Serpinb9e A G 13: 33,255,125 K178R probably damaging Het
Shtn1 A G 19: 59,028,169 S233P probably damaging Het
Smpd1 G A 7: 105,555,342 V143M possibly damaging Het
Terb1 G A 8: 104,473,014 H433Y probably benign Het
Traf6 C T 2: 101,690,098 Q164* probably null Het
Trip12 C A 1: 84,814,910 R4L probably damaging Het
Ttn G A 2: 76,863,535 P208S possibly damaging Het
Ube2c T C 2: 164,771,312 I50T probably damaging Het
Uggt1 T C 1: 36,161,694 D1174G probably damaging Het
Vmn2r121 T G X: 124,132,300 M387L probably benign Het
Vmn2r18 T A 5: 151,586,764 N48I probably benign Het
Zc3h15 T C 2: 83,660,173 L217P probably damaging Het
Zyg11a T A 4: 108,205,217 E129V probably damaging Het
Other mutations in Ankrd46
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01941:Ankrd46 APN 15 36485937 missense possibly damaging 0.71
IGL02334:Ankrd46 APN 15 36485933 missense possibly damaging 0.51
IGL02480:Ankrd46 APN 15 36483996 unclassified probably benign
R4897:Ankrd46 UTSW 15 36484133 unclassified probably benign
R5331:Ankrd46 UTSW 15 36486029 missense probably benign 0.03
R5454:Ankrd46 UTSW 15 36479301 missense probably damaging 1.00
R5936:Ankrd46 UTSW 15 36479282 missense probably benign 0.01
R6457:Ankrd46 UTSW 15 36484071 unclassified probably benign
R7860:Ankrd46 UTSW 15 36479420 missense possibly damaging 0.86
R7872:Ankrd46 UTSW 15 36485843 missense possibly damaging 0.51
R8221:Ankrd46 UTSW 15 36485855 missense probably damaging 0.98
Posted On2013-12-09