Incidental Mutation 'IGL02824:Ankrd36'
ID361121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd36
Ensembl Gene ENSMUSG00000020481
Gene Nameankyrin repeat domain 36
Synonyms1700012M14Rik, 1700008J08Rik, GC3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.025) question?
Stock #IGL02824
Quality Score
Status
Chromosome11
Chromosomal Location5569684-5689337 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5574246 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 171 (I171T)
Ref Sequence ENSEMBL: ENSMUSP00000122397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109855] [ENSMUST00000109856] [ENSMUST00000118112]
Predicted Effect probably benign
Transcript: ENSMUST00000109855
AA Change: I171T

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000105481
Gene: ENSMUSG00000020481
AA Change: I171T

DomainStartEndE-ValueType
Blast:ANK 29 62 5e-13 BLAST
ANK 66 95 4.5e-3 SMART
ANK 99 128 1.44e-1 SMART
ANK 132 161 4.6e0 SMART
ANK 165 194 2.48e-5 SMART
ANK 198 227 4.67e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109856
AA Change: I171T

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: I171T

DomainStartEndE-ValueType
Blast:ANK 29 62 3e-12 BLAST
ANK 66 95 4.5e-3 SMART
ANK 99 128 1.44e-1 SMART
ANK 132 161 4.6e0 SMART
ANK 165 194 2.48e-5 SMART
ANK 198 227 4.67e-1 SMART
internal_repeat_1 449 555 1.04e-5 PROSPERO
internal_repeat_1 891 981 1.04e-5 PROSPERO
low complexity region 1105 1118 N/A INTRINSIC
coiled coil region 1268 1297 N/A INTRINSIC
coiled coil region 1318 1338 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118112
AA Change: I171T

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: I171T

DomainStartEndE-ValueType
Blast:ANK 29 62 3e-12 BLAST
ANK 66 95 2.9e-5 SMART
ANK 99 128 9.4e-4 SMART
ANK 132 161 2.9e-2 SMART
ANK 165 194 1.5e-7 SMART
ANK 198 227 2.9e-3 SMART
internal_repeat_1 255 352 8.15e-5 PROSPERO
internal_repeat_1 438 538 8.15e-5 PROSPERO
low complexity region 1138 1151 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146773
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik T C 4: 122,702,319 probably benign Het
Aadat A T 8: 60,516,022 K93N probably benign Het
Abcb5 A G 12: 118,890,685 F832L probably benign Het
Abl1 A T 2: 31,800,819 K783N probably damaging Het
Agxt2 A G 15: 10,393,805 E423G probably null Het
Alkbh8 T C 9: 3,368,021 probably null Het
Ap1b1 G T 11: 5,033,738 A664S possibly damaging Het
Cd19 T C 7: 126,410,654 D446G probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cyp4f39 T C 17: 32,468,685 probably null Het
Ehbp1l1 T C 19: 5,719,298 D659G probably benign Het
Eif3l A G 15: 79,075,823 probably null Het
F5 T C 1: 164,194,347 S1464P probably benign Het
Fut9 T C 4: 25,620,037 N259S probably damaging Het
Glb1l3 A T 9: 26,850,109 I209N probably damaging Het
Gpd2 A G 2: 57,364,327 E671G probably null Het
Heatr5b T C 17: 78,773,680 D1381G probably damaging Het
Ifi206 A T 1: 173,481,872 I186K possibly damaging Het
Izumo1 A G 7: 45,625,648 D236G probably benign Het
Klhl32 T A 4: 24,682,237 R149* probably null Het
Lrrn1 T C 6: 107,568,534 F431S possibly damaging Het
Man2b2 C T 5: 36,821,851 V282I probably benign Het
Mboat2 A G 12: 24,946,586 K164R probably benign Het
Mgarp T C 3: 51,389,087 T165A probably damaging Het
Midn T G 10: 80,153,652 I43S possibly damaging Het
Ndn A G 7: 62,348,834 I143V possibly damaging Het
Olfr1099 T C 2: 86,958,993 D155G probably benign Het
Olfr816 T C 10: 129,911,696 E194G probably damaging Het
Pcnx4 T C 12: 72,555,571 V278A probably benign Het
Prr30 A G 14: 101,198,518 F203L probably benign Het
Scd4 T C 19: 44,341,259 L223P probably damaging Het
Setdb1 T C 3: 95,339,904 probably benign Het
Smtn A G 11: 3,532,658 Y105H probably damaging Het
Spata19 A G 9: 27,397,729 I54M possibly damaging Het
Syk A T 13: 52,623,283 probably benign Het
Trim44 A G 2: 102,400,195 F164L possibly damaging Het
Zfp503 C T 14: 21,985,094 G585S possibly damaging Het
Other mutations in Ankrd36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Ankrd36 APN 11 5620131 missense probably benign 0.01
IGL01361:Ankrd36 APN 11 5596706 splice site probably benign
IGL01370:Ankrd36 APN 11 5584019 missense probably benign 0.06
IGL01384:Ankrd36 APN 11 5628348 missense probably benign 0.33
IGL01484:Ankrd36 APN 11 5629006 missense possibly damaging 0.90
IGL01524:Ankrd36 APN 11 5635092 missense probably benign
IGL01700:Ankrd36 APN 11 5632198 missense probably benign 0.05
IGL02322:Ankrd36 APN 11 5614619 missense possibly damaging 0.86
IGL02511:Ankrd36 APN 11 5660845 unclassified probably null
IGL03204:Ankrd36 APN 11 5584023 missense possibly damaging 0.70
R0058:Ankrd36 UTSW 11 5630691 splice site probably benign
R0058:Ankrd36 UTSW 11 5630691 splice site probably benign
R0304:Ankrd36 UTSW 11 5628981 missense possibly damaging 0.55
R0504:Ankrd36 UTSW 11 5629274 missense probably damaging 0.99
R0550:Ankrd36 UTSW 11 5607429 critical splice donor site probably null
R0563:Ankrd36 UTSW 11 5629322 missense probably benign 0.33
R0891:Ankrd36 UTSW 11 5687316 missense possibly damaging 0.72
R1018:Ankrd36 UTSW 11 5646876 unclassified probably benign
R1468:Ankrd36 UTSW 11 5575752 missense probably damaging 0.99
R1468:Ankrd36 UTSW 11 5575752 missense probably damaging 0.99
R1558:Ankrd36 UTSW 11 5635329 missense probably damaging 0.99
R1663:Ankrd36 UTSW 11 5620126 missense possibly damaging 0.70
R1682:Ankrd36 UTSW 11 5607143 missense possibly damaging 0.84
R1898:Ankrd36 UTSW 11 5575683 missense probably benign 0.33
R2019:Ankrd36 UTSW 11 5689140 missense probably benign
R2032:Ankrd36 UTSW 11 5628616 missense possibly damaging 0.86
R2084:Ankrd36 UTSW 11 5662378 nonsense probably null
R4097:Ankrd36 UTSW 11 5628703 missense possibly damaging 0.85
R4572:Ankrd36 UTSW 11 5689340 unclassified probably null
R4601:Ankrd36 UTSW 11 5570102 missense probably benign 0.04
R4770:Ankrd36 UTSW 11 5590870 missense possibly damaging 0.73
R4777:Ankrd36 UTSW 11 5607120 missense probably benign
R4894:Ankrd36 UTSW 11 5635332 missense probably damaging 0.98
R5288:Ankrd36 UTSW 11 5689340 unclassified probably benign
R5366:Ankrd36 UTSW 11 5592841 nonsense probably null
R5384:Ankrd36 UTSW 11 5689340 unclassified probably benign
R5385:Ankrd36 UTSW 11 5689340 unclassified probably benign
R6109:Ankrd36 UTSW 11 5628941 missense probably damaging 0.98
R6155:Ankrd36 UTSW 11 5687442 missense probably benign 0.00
R6186:Ankrd36 UTSW 11 5643812 missense possibly damaging 0.81
R6289:Ankrd36 UTSW 11 5628837 missense probably damaging 0.96
R6476:Ankrd36 UTSW 11 5628753 missense probably benign 0.05
R6816:Ankrd36 UTSW 11 5643765 missense possibly damaging 0.66
R6880:Ankrd36 UTSW 11 5628748 missense probably damaging 0.99
R6919:Ankrd36 UTSW 11 5629299 missense probably benign
R7007:Ankrd36 UTSW 11 5689168 missense probably benign 0.00
U24488:Ankrd36 UTSW 11 5630772 missense probably damaging 0.99
Posted On2015-12-18