Incidental Mutation 'IGL03186:Ankrd53'
ID412473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd53
Ensembl Gene ENSMUSG00000014747
Gene Nameankyrin repeat domain 53
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03186
Quality Score
Status
Chromosome6
Chromosomal Location83762644-83768326 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83763713 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 106 (I106T)
Ref Sequence ENSEMBL: ENSMUSP00000145973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006431] [ENSMUST00000014891] [ENSMUST00000206496]
Predicted Effect probably benign
Transcript: ENSMUST00000006431
SMART Domains Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 44 110 1.9e-14 PFAM
Pfam:ATP-synt_ab 167 393 9.4e-68 PFAM
Pfam:ATP-synt_ab_C 410 508 6.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000014891
AA Change: I161T

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000014891
Gene: ENSMUSG00000014747
AA Change: I161T

DomainStartEndE-ValueType
low complexity region 12 27 N/A INTRINSIC
ANK 110 140 1.15e0 SMART
ANK 144 177 1.63e0 SMART
ANK 181 210 1.78e-6 SMART
Blast:ANK 215 243 6e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190077
Predicted Effect probably benign
Transcript: ENSMUST00000206496
AA Change: I106T

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,433,618 I4769T possibly damaging Het
Arsi A G 18: 60,917,473 D476G probably damaging Het
Atp2c1 T C 9: 105,413,130 K760E probably benign Het
C030048H21Rik A G 2: 26,253,338 probably null Het
Cep152 A G 2: 125,563,975 S1546P probably benign Het
Clock T C 5: 76,243,082 H291R probably damaging Het
Fkbp4 T C 6: 128,434,800 T109A probably benign Het
Igkv1-117 T C 6: 68,121,799 Y111H probably damaging Het
Kif20b A T 19: 34,934,944 E250V probably benign Het
Mef2c A G 13: 83,652,868 N229S probably benign Het
Ndufa9 A G 6: 126,844,892 V36A possibly damaging Het
Neb T C 2: 52,210,659 probably benign Het
Neb G A 2: 52,169,088 H213Y probably damaging Het
Neurl1a T A 19: 47,240,477 F152Y probably damaging Het
Nlrp14 G T 7: 107,186,670 C651F probably damaging Het
Odf3l1 T G 9: 56,849,072 N220T probably benign Het
Olfr1239 T A 2: 89,417,844 T190S probably damaging Het
Olfr202 A T 16: 59,283,903 V198E probably damaging Het
Olfr836 T A 9: 19,121,904 D316E probably benign Het
Pex2 C A 3: 5,561,717 A11S probably benign Het
Pitpna C A 11: 75,612,250 H137N probably benign Het
Pole T G 5: 110,299,920 probably null Het
Rft1 T A 14: 30,658,349 I35N possibly damaging Het
Serpina1e T C 12: 103,949,203 H248R probably benign Het
Sgsm1 C T 5: 113,285,021 A254T probably benign Het
St3gal3 G A 4: 117,940,054 P331S possibly damaging Het
Ttn T A 2: 76,771,762 K16773* probably null Het
Zfp687 T C 3: 95,011,094 T456A probably benign Het
Zranb1 A G 7: 132,950,203 I220M possibly damaging Het
Other mutations in Ankrd53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01875:Ankrd53 APN 6 83763049 nonsense probably null
PIT4651001:Ankrd53 UTSW 6 83765733 missense probably damaging 1.00
R0420:Ankrd53 UTSW 6 83763692 missense probably damaging 1.00
R0662:Ankrd53 UTSW 6 83763643 missense probably damaging 1.00
R1978:Ankrd53 UTSW 6 83763203 missense probably damaging 1.00
R2313:Ankrd53 UTSW 6 83763680 missense probably damaging 1.00
R2483:Ankrd53 UTSW 6 83763262 missense possibly damaging 0.52
R3623:Ankrd53 UTSW 6 83763262 missense possibly damaging 0.52
R3624:Ankrd53 UTSW 6 83763262 missense possibly damaging 0.52
R4550:Ankrd53 UTSW 6 83765260 missense probably damaging 1.00
R4836:Ankrd53 UTSW 6 83768152 missense probably damaging 1.00
R6144:Ankrd53 UTSW 6 83762657 unclassified probably benign
R6875:Ankrd53 UTSW 6 83768173 missense probably damaging 1.00
R7143:Ankrd53 UTSW 6 83762911 missense possibly damaging 0.93
R7293:Ankrd53 UTSW 6 83763196 missense probably null 1.00
Z1177:Ankrd53 UTSW 6 83765783 missense possibly damaging 0.93
Posted On2016-08-02