Incidental Mutation 'IGL02327:Ankrd9'
ID288538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd9
Ensembl Gene ENSMUSG00000037904
Gene Nameankyrin repeat domain 9
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02327
Quality Score
Status
Chromosome12
Chromosomal Location110975353-110979040 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 110977415 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 29 (C29S)
Ref Sequence ENSEMBL: ENSMUSP00000123239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043459] [ENSMUST00000128353] [ENSMUST00000135131] [ENSMUST00000140788] [ENSMUST00000142012] [ENSMUST00000148765]
Predicted Effect probably damaging
Transcript: ENSMUST00000043459
AA Change: C29S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048823
Gene: ENSMUSG00000037904
AA Change: C29S

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: C29S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120816
Gene: ENSMUSG00000037904
AA Change: C29S

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: C29S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119339
Gene: ENSMUSG00000037904
AA Change: C29S

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: C29S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121279
Gene: ENSMUSG00000037904
AA Change: C29S

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: C62S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121536
Gene: ENSMUSG00000037904
AA Change: C62S

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: C29S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123239
Gene: ENSMUSG00000037904
AA Change: C29S

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc66 G A 14: 27,493,386 A399V probably damaging Het
Ccl12 A G 11: 82,103,122 I68M possibly damaging Het
Cd244 T C 1: 171,559,341 V6A probably benign Het
Cfap97 T A 8: 46,170,142 S190T probably damaging Het
Chic2 G T 5: 75,027,080 C106* probably null Het
Ctdsp2 G A 10: 126,996,382 D237N probably benign Het
Cyp2a22 A T 7: 26,934,781 M316K probably damaging Het
Cyp3a25 A G 5: 145,986,921 F304S possibly damaging Het
Ddc A T 11: 11,863,739 V209D probably damaging Het
Dhx16 A G 17: 35,883,825 K446R probably benign Het
Fgd3 T C 13: 49,285,798 K241E probably damaging Het
Hps1 G T 19: 42,756,345 probably benign Het
Inpp4b C T 8: 82,041,962 T700I probably benign Het
Kremen2 T A 17: 23,743,569 M157L probably benign Het
Lrwd1 T C 5: 136,123,464 Y582C probably damaging Het
Macf1 T A 4: 123,471,730 R1514S probably benign Het
Mex3c T A 18: 73,590,710 C625S probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Ncf2 A T 1: 152,816,993 Y87F possibly damaging Het
Neo1 T C 9: 58,903,088 T1027A probably benign Het
Nfkbib G T 7: 28,759,143 P347Q probably benign Het
Nr1h2 G A 7: 44,551,500 probably benign Het
Olfr1158 A T 2: 87,990,257 I49F probably damaging Het
Olfr224 T A 11: 58,566,935 R137W probably damaging Het
Olfr384 A T 11: 73,603,155 T192S probably damaging Het
Oxct1 A G 15: 4,037,089 probably null Het
Pak1ip1 T G 13: 41,012,417 N308K probably benign Het
Prpf38a T C 4: 108,568,410 R224G unknown Het
Scfd1 T C 12: 51,389,317 V83A possibly damaging Het
Tmem131 C T 1: 36,799,022 G1545D probably damaging Het
Trav13n-4 A T 14: 53,364,110 probably benign Het
Ttc3 A G 16: 94,448,108 D1155G probably damaging Het
Unc80 G A 1: 66,641,673 V2143I probably benign Het
Vmn2r16 T C 5: 109,340,121 Y287H probably benign Het
Vmn2r59 A G 7: 42,012,231 V720A probably benign Het
Wars T A 12: 108,866,301 probably null Het
Wdcp A G 12: 4,851,115 K324E possibly damaging Het
Wdfy3 A T 5: 101,888,192 L2105H probably damaging Het
Xirp2 A T 2: 67,510,100 D895V probably damaging Het
Zscan10 A T 17: 23,607,572 probably benign Het
Other mutations in Ankrd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01722:Ankrd9 APN 12 110977363 missense probably damaging 1.00
IGL02220:Ankrd9 APN 12 110977499 start codon destroyed probably null 0.99
IGL03148:Ankrd9 APN 12 110976859 missense probably benign
R4321:Ankrd9 UTSW 12 110976640 missense probably damaging 1.00
R4807:Ankrd9 UTSW 12 110977235 missense probably benign 0.25
R5918:Ankrd9 UTSW 12 110976766 missense probably benign
R6233:Ankrd9 UTSW 12 110977120 missense probably damaging 1.00
R6661:Ankrd9 UTSW 12 110977768 intron probably benign
R6695:Ankrd9 UTSW 12 110977063 missense probably benign 0.03
R7672:Ankrd9 UTSW 12 110976746 missense probably benign
Posted On2015-04-16