Incidental Mutation 'IGL01722:Ankrd9'
ID 105153
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd9
Ensembl Gene ENSMUSG00000037904
Gene Name ankyrin repeat domain 9
Synonyms 2500003O20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01722
Quality Score
Status
Chromosome 12
Chromosomal Location 110942854-110945516 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110943797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 46 (V46A)
Ref Sequence ENSEMBL: ENSMUSP00000123239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043459] [ENSMUST00000128353] [ENSMUST00000135131] [ENSMUST00000140788] [ENSMUST00000142012] [ENSMUST00000148765] [ENSMUST00000165978] [ENSMUST00000169597]
AlphaFold Q8BH83
Predicted Effect probably damaging
Transcript: ENSMUST00000043459
AA Change: V46A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048823
Gene: ENSMUSG00000037904
AA Change: V46A

DomainStartEndE-ValueType
Blast:ANK 70 99 1e-6 BLAST
Blast:ANK 111 139 3e-6 BLAST
ANK 157 186 1.42e0 SMART
low complexity region 213 233 N/A INTRINSIC
low complexity region 238 246 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000128353
AA Change: V46A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120816
Gene: ENSMUSG00000037904
AA Change: V46A

DomainStartEndE-ValueType
Blast:ANK 70 99 1e-6 BLAST
Blast:ANK 111 139 3e-6 BLAST
ANK 157 186 1.42e0 SMART
low complexity region 213 233 N/A INTRINSIC
low complexity region 238 246 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135131
AA Change: V46A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119339
Gene: ENSMUSG00000037904
AA Change: V46A

DomainStartEndE-ValueType
Blast:ANK 70 99 1e-6 BLAST
Blast:ANK 111 139 3e-6 BLAST
ANK 157 186 1.42e0 SMART
low complexity region 213 233 N/A INTRINSIC
low complexity region 238 246 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000140788
AA Change: V46A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121279
Gene: ENSMUSG00000037904
AA Change: V46A

DomainStartEndE-ValueType
Blast:ANK 70 99 1e-6 BLAST
Blast:ANK 111 139 3e-6 BLAST
ANK 157 186 1.42e0 SMART
low complexity region 213 233 N/A INTRINSIC
low complexity region 238 246 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000142012
AA Change: V79A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121536
Gene: ENSMUSG00000037904
AA Change: V79A

DomainStartEndE-ValueType
Blast:ANK 103 132 1e-6 BLAST
Blast:ANK 144 172 2e-6 BLAST
ANK 190 219 1.42e0 SMART
low complexity region 246 266 N/A INTRINSIC
low complexity region 271 279 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144882
Predicted Effect probably damaging
Transcript: ENSMUST00000148765
AA Change: V46A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123239
Gene: ENSMUSG00000037904
AA Change: V46A

DomainStartEndE-ValueType
Blast:ANK 70 99 1e-6 BLAST
Blast:ANK 111 139 3e-6 BLAST
ANK 157 186 1.42e0 SMART
low complexity region 213 233 N/A INTRINSIC
low complexity region 238 246 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165978
SMART Domains Protein: ENSMUSP00000127949
Gene: ENSMUSG00000021275

DomainStartEndE-ValueType
WD40 21 61 8.52e1 SMART
WD40 65 105 2.54e2 SMART
WD40 113 155 2.49e-1 SMART
TECPR 280 314 9.81e0 SMART
TECPR 316 353 2.55e0 SMART
low complexity region 392 424 N/A INTRINSIC
low complexity region 464 471 N/A INTRINSIC
low complexity region 553 564 N/A INTRINSIC
low complexity region 655 670 N/A INTRINSIC
TECPR 814 850 2.28e2 SMART
TECPR 898 931 1.79e-1 SMART
TECPR 939 974 5.61e-3 SMART
TECPR 985 1023 1.55e-5 SMART
TECPR 1173 1208 1.29e-2 SMART
TECPR 1216 1255 2.82e-8 SMART
TECPR 1266 1308 1.05e-7 SMART
TECPR 1317 1351 1.42e-4 SMART
TECPR 1360 1394 5.03e-5 SMART
low complexity region 1414 1421 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169597
SMART Domains Protein: ENSMUSP00000126749
Gene: ENSMUSG00000021275

DomainStartEndE-ValueType
WD40 21 61 8.52e1 SMART
WD40 65 105 2.54e2 SMART
WD40 113 155 2.49e-1 SMART
TECPR 280 314 9.81e0 SMART
TECPR 316 353 2.55e0 SMART
low complexity region 392 424 N/A INTRINSIC
low complexity region 464 471 N/A INTRINSIC
low complexity region 553 564 N/A INTRINSIC
low complexity region 655 670 N/A INTRINSIC
TECPR 814 850 2.28e2 SMART
TECPR 898 931 1.79e-1 SMART
TECPR 939 974 5.61e-3 SMART
TECPR 985 1023 1.55e-5 SMART
TECPR 1173 1208 1.29e-2 SMART
TECPR 1216 1255 2.82e-8 SMART
TECPR 1266 1308 1.05e-7 SMART
TECPR 1317 1351 1.42e-4 SMART
TECPR 1360 1394 5.03e-5 SMART
low complexity region 1414 1421 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c T A 2: 58,173,561 (GRCm39) probably benign Het
Alb G A 5: 90,618,698 (GRCm39) probably null Het
Apol11a A T 15: 77,401,307 (GRCm39) M265L probably benign Het
Ccdc158 T C 5: 92,810,598 (GRCm39) N97D possibly damaging Het
Cobl T G 11: 12,203,987 (GRCm39) H823P probably benign Het
Dnaja2 A T 8: 86,279,908 (GRCm39) H90Q probably benign Het
Dpagt1 T C 9: 44,238,899 (GRCm39) F73S possibly damaging Het
Dph3 C T 14: 31,807,417 (GRCm39) E20K possibly damaging Het
Fbxl13 G T 5: 21,695,412 (GRCm39) T660K possibly damaging Het
Gask1a G A 9: 121,794,149 (GRCm39) S101N possibly damaging Het
Glt6d1 T C 2: 25,684,431 (GRCm39) T192A probably benign Het
Mroh7 C T 4: 106,560,358 (GRCm39) V649I probably benign Het
Mta3 T C 17: 84,063,072 (GRCm39) Y4H possibly damaging Het
Myh14 A G 7: 44,292,956 (GRCm39) L369P probably damaging Het
Or2y1 G T 11: 49,385,793 (GRCm39) L144F probably damaging Het
Or4c52 T C 2: 89,845,351 (GRCm39) C26R probably benign Het
Paxx T C 2: 25,350,277 (GRCm39) D110G probably damaging Het
Pcyox1 T G 6: 86,365,735 (GRCm39) D493A probably damaging Het
Plk2 A G 13: 110,535,976 (GRCm39) E560G probably benign Het
Rnf6 A G 5: 146,147,036 (GRCm39) F661L probably benign Het
Sema4a T C 3: 88,345,491 (GRCm39) K531E probably benign Het
Svs5 T C 2: 164,079,446 (GRCm39) K154E possibly damaging Het
Tbx4 A T 11: 85,802,769 (GRCm39) Q242L probably damaging Het
Tgm3 A T 2: 129,886,488 (GRCm39) I570F probably damaging Het
Thrap3 A T 4: 126,059,322 (GRCm39) M908K possibly damaging Het
Trmo A G 4: 46,386,092 (GRCm39) probably null Het
Usp8 T A 2: 126,600,072 (GRCm39) L997Q probably damaging Het
Vmn1r202 T C 13: 22,685,890 (GRCm39) R176G probably benign Het
Vps52 T A 17: 34,180,589 (GRCm39) Y308* probably null Het
Other mutations in Ankrd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02220:Ankrd9 APN 12 110,943,933 (GRCm39) start codon destroyed probably null 0.99
IGL02327:Ankrd9 APN 12 110,943,849 (GRCm39) missense probably damaging 1.00
IGL03148:Ankrd9 APN 12 110,943,293 (GRCm39) missense probably benign
R4321:Ankrd9 UTSW 12 110,943,074 (GRCm39) missense probably damaging 1.00
R4807:Ankrd9 UTSW 12 110,943,669 (GRCm39) missense probably benign 0.25
R5918:Ankrd9 UTSW 12 110,943,200 (GRCm39) missense probably benign
R6233:Ankrd9 UTSW 12 110,943,554 (GRCm39) missense probably damaging 1.00
R6661:Ankrd9 UTSW 12 110,944,202 (GRCm39) intron probably benign
R6695:Ankrd9 UTSW 12 110,943,497 (GRCm39) missense probably benign 0.03
R7672:Ankrd9 UTSW 12 110,943,180 (GRCm39) missense probably benign
Posted On 2014-01-21