Incidental Mutation 'IGL00549:Ankrd33'
ID4036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd33
Ensembl Gene ENSMUSG00000047034
Gene Nameankyrin repeat domain 33
SynonymsPanky, A930021G21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL00549
Quality Score
Status
Chromosome15
Chromosomal Location101115755-101120040 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 101116959 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 76 (L76F)
Ref Sequence ENSEMBL: ENSMUSP00000067028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070875] [ENSMUST00000229263] [ENSMUST00000229842] [ENSMUST00000229930] [ENSMUST00000229954] [ENSMUST00000231158]
Predicted Effect probably damaging
Transcript: ENSMUST00000070875
AA Change: L76F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067028
Gene: ENSMUSG00000047034
AA Change: L76F

DomainStartEndE-ValueType
ANK 5 35 1.19e3 SMART
ANK 39 68 9.13e-4 SMART
ANK 74 103 1.9e-1 SMART
ANK 108 137 4.88e2 SMART
low complexity region 149 171 N/A INTRINSIC
Blast:ANK 184 207 5e-6 BLAST
low complexity region 237 254 N/A INTRINSIC
low complexity region 315 324 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229263
Predicted Effect probably benign
Transcript: ENSMUST00000229842
Predicted Effect probably benign
Transcript: ENSMUST00000229930
Predicted Effect unknown
Transcript: ENSMUST00000229954
AA Change: L124F
Predicted Effect unknown
Transcript: ENSMUST00000231158
AA Change: T109I
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231208
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc149 C T 5: 52,376,322 V501I probably benign Het
Efhc1 C T 1: 20,979,481 Q522* probably null Het
Exoc8 A T 8: 124,896,872 I252N probably damaging Het
Gucy1a2 T A 9: 3,759,418 M408K probably damaging Het
Igkv4-70 A G 6: 69,268,091 S49P probably damaging Het
Itga1 C T 13: 115,049,296 E57K possibly damaging Het
Mavs T C 2: 131,246,716 L480P probably damaging Het
Orc2 T A 1: 58,481,042 Q160L probably benign Het
Phldb1 A G 9: 44,711,146 probably null Het
Pkd1 T A 17: 24,572,761 S1141T probably benign Het
Slc8a1 A G 17: 81,649,171 I146T probably damaging Het
Specc1l G A 10: 75,246,221 V501I probably benign Het
Taf2 T C 15: 55,031,115 T937A probably benign Het
Vps9d1 C A 8: 123,245,198 R556L probably damaging Het
Other mutations in Ankrd33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02458:Ankrd33 APN 15 101116607 missense probably damaging 1.00
R1830:Ankrd33 UTSW 15 101119551 missense probably damaging 1.00
R2072:Ankrd33 UTSW 15 101119636 missense probably benign 0.10
R6028:Ankrd33 UTSW 15 101119072 missense probably damaging 1.00
R6904:Ankrd33 UTSW 15 101117112 intron probably null
R7022:Ankrd33 UTSW 15 101116899 missense probably benign 0.14
R7074:Ankrd33 UTSW 15 101119549 missense probably benign 0.01
Posted On2012-04-20