Incidental Mutation 'IGL01336:Ankrd7'
ID74637
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd7
Ensembl Gene ENSMUSG00000029517
Gene Nameankyrin repeat domain 7
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01336
Quality Score
Status
Chromosome6
Chromosomal Location18866318-18879586 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18868278 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 133 (V133A)
Ref Sequence ENSEMBL: ENSMUSP00000111054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031489] [ENSMUST00000115396]
Predicted Effect probably benign
Transcript: ENSMUST00000031489
AA Change: V132A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000031489
Gene: ENSMUSG00000029517
AA Change: V132A

DomainStartEndE-ValueType
low complexity region 46 55 N/A INTRINSIC
ANK 80 109 1.06e-4 SMART
ANK 113 142 5.45e-2 SMART
ANK 146 175 6.92e-4 SMART
ANK 179 208 1.94e-7 SMART
ANK 212 241 1.99e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115396
AA Change: V133A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000111054
Gene: ENSMUSG00000029517
AA Change: V133A

DomainStartEndE-ValueType
low complexity region 46 55 N/A INTRINSIC
ANK 80 109 1.06e-4 SMART
ANK 113 143 3.07e2 SMART
ANK 147 176 6.92e-4 SMART
ANK 180 209 1.94e-7 SMART
ANK 213 242 1.99e2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly G T 11: 100,495,910 L599I probably benign Het
Adcyap1 A G 17: 93,203,964 D122G probably benign Het
Ahr A G 12: 35,503,840 V760A probably benign Het
Bsn A G 9: 108,111,785 V2256A probably damaging Het
Cblb A G 16: 52,186,229 K765E probably benign Het
Clmp A G 9: 40,782,610 *374W probably null Het
Ddc A G 11: 11,846,630 probably null Het
Dnah10 A G 5: 124,775,512 Y1878C probably damaging Het
Ei24 A G 9: 36,786,481 probably null Het
Gm12394 T A 4: 42,793,784 Q116L possibly damaging Het
Gm8394 T C 10: 85,314,164 noncoding transcript Het
Ikbke A G 1: 131,273,756 M118T probably damaging Het
Il6st T C 13: 112,480,239 S107P possibly damaging Het
Map2k6 A G 11: 110,496,411 Y203C probably damaging Het
Mettl27 C T 5: 134,935,880 probably benign Het
Mrps14 G A 1: 160,196,995 W32* probably null Het
Naaa A C 5: 92,265,133 M208R probably benign Het
Nat2 A G 8: 67,501,541 Y101C probably damaging Het
Ncoa3 A G 2: 166,054,523 S449G probably benign Het
Olfr1507 A G 14: 52,490,748 I72T probably damaging Het
Olfr5 T C 7: 6,480,998 I53V probably benign Het
Phykpl G A 11: 51,599,456 probably benign Het
Rasgrf1 A T 9: 89,991,530 M631L probably benign Het
Rgma G A 7: 73,409,318 V57M possibly damaging Het
Samd4b G T 7: 28,413,963 D192E probably benign Het
Sesn2 T C 4: 132,499,367 T139A probably benign Het
Slc30a6 A G 17: 74,408,839 probably benign Het
Stra8 T C 6: 34,933,188 Y182H possibly damaging Het
Trim31 C A 17: 36,909,377 A395E probably damaging Het
Trp53bp2 G T 1: 182,431,583 R67L probably damaging Het
Trpa1 A C 1: 14,886,880 probably benign Het
Wdr91 G A 6: 34,909,543 probably benign Het
Other mutations in Ankrd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Ankrd7 APN 6 18879346 missense probably damaging 0.99
IGL01916:Ankrd7 APN 6 18868251 missense possibly damaging 0.65
IGL02398:Ankrd7 APN 6 18866697 missense probably damaging 0.99
R0031:Ankrd7 UTSW 6 18870008 nonsense probably null
R0157:Ankrd7 UTSW 6 18866540 missense probably damaging 0.98
R0207:Ankrd7 UTSW 6 18870031 missense probably benign 0.09
R2154:Ankrd7 UTSW 6 18870031 missense probably benign 0.09
R4255:Ankrd7 UTSW 6 18869881 splice site probably null
R4581:Ankrd7 UTSW 6 18868021 missense probably damaging 0.99
R4582:Ankrd7 UTSW 6 18868021 missense probably damaging 0.99
R4958:Ankrd7 UTSW 6 18866723 missense probably benign 0.05
R5194:Ankrd7 UTSW 6 18868077 missense possibly damaging 0.67
R6077:Ankrd7 UTSW 6 18868072 missense probably benign 0.08
R6731:Ankrd7 UTSW 6 18866654 missense probably damaging 1.00
R6898:Ankrd7 UTSW 6 18868101 splice site probably null
R7170:Ankrd7 UTSW 6 18868390 nonsense probably null
R7194:Ankrd7 UTSW 6 18879343 missense probably benign 0.00
R7749:Ankrd7 UTSW 6 18879516 splice site probably null
R8348:Ankrd7 UTSW 6 18868008 missense probably damaging 0.96
R8383:Ankrd7 UTSW 6 18868411 missense possibly damaging 0.86
R8448:Ankrd7 UTSW 6 18868008 missense probably damaging 0.96
RF012:Ankrd7 UTSW 6 18869275 missense possibly damaging 0.76
Z1177:Ankrd7 UTSW 6 18866564 missense possibly damaging 0.73
Posted On2013-10-07