Incidental Mutation 'IGL01619:Ankrd46'
ID92516
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd46
Ensembl Gene ENSMUSG00000048307
Gene Nameankyrin repeat domain 46
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.123) question?
Stock #IGL01619
Quality Score
Status
Chromosome15
Chromosomal Location36477668-36496820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36485967 bp
ZygosityHeterozygous
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

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: 22,523,328 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