Incidental Mutation 'IGL02220:Ankrd9'
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ID285115
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? Probably non essential (E-score: 0.160) question?
Stock #IGL02220
Quality Score
Status
Chromosome12
Chromosomal Location110975353-110979040 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to C at 110977499 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000123239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043459] [ENSMUST00000128353] [ENSMUST00000135131] [ENSMUST00000140788] [ENSMUST00000142012] [ENSMUST00000148765]
Predicted Effect probably null
Transcript: ENSMUST00000043459
AA Change: M1V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048823
Gene: ENSMUSG00000037904
AA Change: M1V

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 null
Transcript: ENSMUST00000128353
AA Change: M1V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120816
Gene: ENSMUSG00000037904
AA Change: M1V

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 null
Transcript: ENSMUST00000135131
AA Change: M1V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119339
Gene: ENSMUSG00000037904
AA Change: M1V

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 null
Transcript: ENSMUST00000140788
AA Change: M1V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121279
Gene: ENSMUSG00000037904
AA Change: M1V

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: M34V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121536
Gene: ENSMUSG00000037904
AA Change: M34V

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 null
Transcript: ENSMUST00000148765
AA Change: M1V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123239
Gene: ENSMUSG00000037904
AA Change: M1V

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,711,172 D460G probably damaging Het
Anks1 T C 17: 28,054,707 I977T probably damaging Het
Bcar1 T C 8: 111,711,207 D767G possibly damaging Het
Bcl6 A T 16: 23,974,891 I102N probably damaging Het
Cacna2d2 G A 9: 107,514,879 G473D probably damaging Het
Cdh23 G T 10: 60,305,124 H3148Q probably damaging Het
Col6a4 A G 9: 106,062,942 V1263A possibly damaging Het
Crtc2 T C 3: 90,259,148 probably benign Het
D130043K22Rik G A 13: 24,883,755 G825S possibly damaging Het
Dera T A 6: 137,780,817 probably null Het
Dnah17 G T 11: 118,072,967 Y2506* probably null Het
Enam T A 5: 88,504,559 L1309* probably null Het
Fbxo15 G A 18: 84,964,192 probably null Het
Fgfbp1 T C 5: 43,979,486 K155E probably damaging Het
Foxj2 C T 6: 122,838,581 probably benign Het
Fuca1 A G 4: 135,939,219 probably benign Het
Gad1-ps T A 10: 99,445,322 noncoding transcript Het
H2-Eb2 C T 17: 34,325,687 probably benign Het
Insr A T 8: 3,159,578 F1168L probably damaging Het
Isx T A 8: 74,892,705 V175E possibly damaging Het
Kansl3 T C 1: 36,367,989 probably benign Het
Lin9 T C 1: 180,667,367 I218T probably damaging Het
Llgl2 C A 11: 115,845,379 A126D possibly damaging Het
Ltbp2 T C 12: 84,829,309 E488G possibly damaging Het
Maml3 A G 3: 51,690,218 V369A possibly damaging Het
Mthfsl A G 9: 88,715,655 I14T probably damaging Het
Myo3b A G 2: 70,289,579 probably benign Het
Nfkbil1 T C 17: 35,220,746 R264G possibly damaging Het
Olfr140 A G 2: 90,051,694 L210P probably damaging Het
Pde5a G T 3: 122,748,382 A174S probably benign Het
Plch1 A T 3: 63,698,961 I1173N probably damaging Het
Ppfia1 C A 7: 144,481,775 R1171L probably damaging Het
Prom1 T C 5: 44,014,789 D595G probably damaging Het
Ptprz1 T C 6: 23,042,743 probably benign Het
Samsn1 A G 16: 75,883,875 probably null Het
Sbno2 T A 10: 80,072,368 T66S probably benign Het
Serpina1c T A 12: 103,896,079 I326F probably damaging Het
Slc12a1 T C 2: 125,188,270 probably null Het
Slc18a2 A G 19: 59,276,556 E324G probably benign Het
Slc40a1 A T 1: 45,911,335 M319K probably damaging Het
Slc44a5 T C 3: 154,250,971 Y287H possibly damaging Het
Stx4a A G 7: 127,842,500 E63G possibly damaging Het
Sv2a T C 3: 96,190,716 F545S probably benign Het
Svop T C 5: 114,065,528 D65G probably benign Het
Tex30 A T 1: 44,087,022 S182R probably benign Het
Tmem121b T C 6: 120,492,337 D473G probably damaging Het
Tnfrsf19 C A 14: 60,973,492 probably benign Het
Tnrc6a T C 7: 123,170,456 S490P probably benign Het
Ubr4 A G 4: 139,388,435 T82A probably benign Het
Vps16 A G 2: 130,441,653 D589G possibly damaging Het
Zscan29 A C 2: 121,166,689 S184A probably damaging Het
Other mutations in Ankrd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01722:Ankrd9 APN 12 110977363 missense probably damaging 1.00
IGL02327:Ankrd9 APN 12 110977415 missense probably damaging 1.00
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
Posted On2015-04-16