Incidental Mutation 'IGL01466:Ankrd49'
ID88105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd49
Ensembl Gene ENSMUSG00000031931
Gene Nameankyrin repeat domain 49
SynonymsGbif
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.285) question?
Stock #IGL01466
Quality Score
Status
Chromosome9
Chromosomal Location14779618-14784856 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 14781349 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 173 (L173P)
Ref Sequence ENSEMBL: ENSMUSP00000151079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034405] [ENSMUST00000034406] [ENSMUST00000115632] [ENSMUST00000147305] [ENSMUST00000214456] [ENSMUST00000214979] [ENSMUST00000215820] [ENSMUST00000216037] [ENSMUST00000216372]
Predicted Effect probably benign
Transcript: ENSMUST00000034405
SMART Domains Protein: ENSMUSP00000034405
Gene: ENSMUSG00000031928

DomainStartEndE-ValueType
Pfam:Metallophos 13 249 6.3e-15 PFAM
Mre11_DNA_bind 294 462 1.72e-70 SMART
coiled coil region 487 519 N/A INTRINSIC
low complexity region 566 594 N/A INTRINSIC
low complexity region 683 699 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000034406
AA Change: L173P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034406
Gene: ENSMUSG00000031931
AA Change: L173P

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
low complexity region 50 60 N/A INTRINSIC
ANK 72 102 1.02e3 SMART
ANK 106 135 7.24e-7 SMART
ANK 139 168 1.94e-7 SMART
ANK 172 203 1.37e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115632
SMART Domains Protein: ENSMUSP00000111295
Gene: ENSMUSG00000031928

DomainStartEndE-ValueType
Pfam:Metallophos 13 249 1.1e-31 PFAM
Mre11_DNA_bind 294 435 7.6e-49 SMART
coiled coil region 460 492 N/A INTRINSIC
low complexity region 539 567 N/A INTRINSIC
low complexity region 656 672 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147305
SMART Domains Protein: ENSMUSP00000116321
Gene: ENSMUSG00000031928

DomainStartEndE-ValueType
Pfam:Metallophos 13 199 1.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214882
Predicted Effect probably benign
Transcript: ENSMUST00000214979
Predicted Effect probably benign
Transcript: ENSMUST00000215820
Predicted Effect probably damaging
Transcript: ENSMUST00000216037
AA Change: L173P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216372
AA Change: L173P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acr A G 15: 89,573,994 N293D probably benign Het
Ccdc152 A G 15: 3,293,847 probably benign Het
Cdh3 G T 8: 106,536,595 R92L possibly damaging Het
Dnajc10 A T 2: 80,321,287 R137S probably benign Het
Dusp27 T G 1: 166,100,504 D513A probably damaging Het
Htra2 A G 6: 83,054,323 L35P probably damaging Het
Il23r A T 6: 67,426,642 M425K probably benign Het
Nfkb2 G T 19: 46,308,016 R241L probably damaging Het
Nup205 A G 6: 35,199,959 D630G probably benign Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Peli2 T C 14: 48,256,457 Y379H probably damaging Het
Plekhg6 G T 6: 125,372,624 probably benign Het
Samd14 G T 11: 95,023,255 probably benign Het
Setd7 A T 3: 51,521,309 *367R probably null Het
Slc26a8 A G 17: 28,654,948 V355A probably benign Het
Slc46a2 T A 4: 59,911,926 K429* probably null Het
Tspan32 T C 7: 143,014,954 probably benign Het
Unc80 T C 1: 66,622,486 V1690A probably benign Het
Ush2a C A 1: 188,911,622 Q4394K probably benign Het
Zfp277 C A 12: 40,378,826 G174V probably benign Het
Other mutations in Ankrd49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Ankrd49 APN 9 14782803 missense probably damaging 0.98
R1677:Ankrd49 UTSW 9 14781378 missense probably benign 0.00
R4626:Ankrd49 UTSW 9 14782640 missense probably damaging 1.00
R4809:Ankrd49 UTSW 9 14781214 missense possibly damaging 0.68
R6580:Ankrd49 UTSW 9 14781398 missense probably damaging 0.96
R6931:Ankrd49 UTSW 9 14782826 missense probably benign 0.12
R7125:Ankrd49 UTSW 9 14782540 frame shift probably null
R7485:Ankrd49 UTSW 9 14782541 nonsense probably null
Posted On2013-11-18