Incidental Mutation 'IGL01522:Ankrd39'
ID 89446
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd39
Ensembl Gene ENSMUSG00000079610
Gene Name ankyrin repeat domain 39
Synonyms C030004B10Rik, 9130416N05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock # IGL01522
Quality Score
Status
Chromosome 1
Chromosomal Location 36537507-36547445 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36542061 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 69 (H69L)
Ref Sequence ENSEMBL: ENSMUSP00000001172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001172] [ENSMUST00000191849] [ENSMUST00000194894] [ENSMUST00000207088] [ENSMUST00000207843]
AlphaFold Q9D2X0
Predicted Effect probably damaging
Transcript: ENSMUST00000001172
AA Change: H69L

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001172
Gene: ENSMUSG00000079610
AA Change: H69L

DomainStartEndE-ValueType
ANK 30 59 8.77e2 SMART
ANK 63 92 1.08e-5 SMART
ANK 96 127 1.27e-2 SMART
ANK 129 158 5.62e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191849
SMART Domains Protein: ENSMUSP00000142202
Gene: ENSMUSG00000109510

DomainStartEndE-ValueType
Blast:ANK 1 26 9e-9 BLAST
ANK 30 59 1.12e-3 SMART
ANK 63 92 1.4e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000194894
AA Change: H69L

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141712
Gene: ENSMUSG00000079610
AA Change: H69L

DomainStartEndE-ValueType
ANK 30 59 5.6e0 SMART
ANK 63 92 7.1e-8 SMART
ANK 96 127 8.2e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207088
Predicted Effect probably benign
Transcript: ENSMUST00000207843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208690
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,582,865 probably null Het
Adamts12 T C 15: 11,065,159 probably null Het
Adamts3 T C 5: 89,702,943 N579S probably benign Het
Akr1c19 A G 13: 4,239,099 probably benign Het
Apcdd1 T A 18: 62,952,115 M461K possibly damaging Het
Bpifa3 G A 2: 154,137,582 C209Y probably damaging Het
Cep131 T C 11: 120,067,163 E779G probably benign Het
Cep85 T C 4: 134,152,255 Q394R probably damaging Het
Cep85 G T 4: 134,152,256 Q394K probably damaging Het
Clcn6 T C 4: 148,017,535 Y364C probably benign Het
Fetub G A 16: 22,929,641 M1I probably null Het
Greb1 T C 12: 16,701,201 I1003V probably damaging Het
Hsf3 A G X: 96,320,594 probably benign Het
Jcad A G 18: 4,673,312 N358S probably damaging Het
Kndc1 T C 7: 139,913,972 probably benign Het
Lama1 A T 17: 67,752,774 probably benign Het
Mark2 A G 19: 7,281,238 V50A probably benign Het
Mmp7 T C 9: 7,692,228 W35R probably damaging Het
Ndc80 A G 17: 71,499,325 V578A probably benign Het
Nfyc T C 4: 120,781,524 E42G probably damaging Het
Olfr1164 T C 2: 88,093,016 K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 L284* probably null Het
Olfr344 A G 2: 36,569,221 T208A probably benign Het
Olfr547 A T 7: 102,535,184 I146F probably damaging Het
Olfr935 A T 9: 38,995,100 C112S probably benign Het
Pcdha11 T C 18: 37,185,008 F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 R154S probably benign Het
Pepd T A 7: 34,924,440 D87E probably benign Het
Pfn4 A G 12: 4,770,240 T30A probably benign Het
Pgpep1l A G 7: 68,237,708 M48T possibly damaging Het
Pla2g15 A G 8: 106,163,116 N340S probably benign Het
Plcb4 A G 2: 136,002,627 D155G probably damaging Het
Plg G A 17: 12,404,069 G499S probably damaging Het
Plin3 C T 17: 56,280,799 W305* probably null Het
Polq C A 16: 37,027,903 L291I probably damaging Het
Sdf2l1 T A 16: 17,132,150 H54L probably damaging Het
Slc38a2 C T 15: 96,693,055 D276N possibly damaging Het
Syk A G 13: 52,643,061 T576A probably benign Het
Tas2r119 G A 15: 32,178,193 V302I probably benign Het
Uso1 T C 5: 92,181,419 F389L probably damaging Het
Wwc2 T A 8: 47,868,633 Y482F unknown Het
Other mutations in Ankrd39
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1637:Ankrd39 UTSW 1 36539492 nonsense probably null
R4249:Ankrd39 UTSW 1 36547155 missense probably benign 0.00
R5548:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R5551:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R5552:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R5553:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R5554:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R5591:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R5594:Ankrd39 UTSW 1 36541981 missense probably damaging 1.00
R7609:Ankrd39 UTSW 1 36539465 missense probably damaging 1.00
R7974:Ankrd39 UTSW 1 36546918 unclassified probably benign
R9095:Ankrd39 UTSW 1 36547160 missense probably benign 0.40
Z1176:Ankrd39 UTSW 1 36542005 missense probably damaging 1.00
Posted On 2013-12-03