Incidental Mutation 'IGL00087:Ankrd36'
ID1201
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: 0.052) question?
Stock #IGL00087
Quality Score
Status
Chromosome11
Chromosomal Location5569684-5689337 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 5620131 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Serine at position 533 (Y533S)
Ref Sequence ENSEMBL: ENSMUSP00000122397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109856] [ENSMUST00000118112]
Predicted Effect probably benign
Transcript: ENSMUST00000109856
AA Change: Y501S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: Y501S

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 probably benign
Transcript: ENSMUST00000118112
AA Change: Y533S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: Y533S

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik C A 3: 121,679,633 probably benign Het
4930572O03Rik C A 5: 15,656,886 probably benign Het
Actr2 C A 11: 20,094,370 V79L probably benign Het
Btnl1 A T 17: 34,381,117 D198V probably damaging Het
Carmil2 T A 8: 105,691,406 I684N probably benign Het
Ccdc129 T A 6: 55,968,037 L581Q possibly damaging Het
Cdk17 T A 10: 93,226,771 V257D probably damaging Het
Ctsj T G 13: 61,001,418 S271R possibly damaging Het
Cul9 T A 17: 46,525,709 Q1130L probably damaging Het
Daam1 G T 12: 71,942,219 S131I unknown Het
Dab1 G A 4: 104,678,810 V139M probably damaging Het
Dab1 A T 4: 104,678,753 I120F possibly damaging Het
Dnah2 A G 11: 69,492,672 V1142A possibly damaging Het
Dsg1b C T 18: 20,396,476 T326I probably damaging Het
Eif3k A C 7: 28,974,676 probably benign Het
Fam76b T C 9: 13,836,884 V3A possibly damaging Het
Fitm2 A G 2: 163,469,792 V167A probably benign Het
Gfap T A 11: 102,888,718 I418F possibly damaging Het
Gm8857 C T 5: 10,947,838 probably benign Het
Grm5 T C 7: 88,130,781 V1143A probably benign Het
Itpr2 A G 6: 146,397,012 I317T probably damaging Het
Kcnn2 A C 18: 45,592,236 R266S probably damaging Het
Kntc1 T A 5: 123,790,159 S1240T probably benign Het
Lmnb2 T C 10: 80,904,037 D490G possibly damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Olfr401 A T 11: 74,121,879 I197F probably benign Het
Pax9 A G 12: 56,700,075 N232S probably benign Het
Pdcd6ip A G 9: 113,697,518 S108P possibly damaging Het
Pitpnc1 T C 11: 107,212,643 E210G possibly damaging Het
Prdm10 T C 9: 31,360,812 probably benign Het
Prl4a1 G A 13: 28,021,460 G136E probably damaging Het
Pstpip2 A G 18: 77,874,294 S255G probably benign Het
Rimbp3 T G 16: 17,209,743 S344A probably benign Het
Rint1 A G 5: 23,794,431 T73A probably benign Het
Rnf145 T C 11: 44,555,212 V291A possibly damaging Het
Rrm1 T A 7: 102,454,507 L221* probably null Het
Scn11a A G 9: 119,770,506 L1114P probably benign Het
Slc44a4 A G 17: 34,930,240 probably benign Het
Sorl1 A C 9: 41,974,094 N2070K probably damaging Het
Spaca7 C T 8: 12,580,941 probably benign Het
Srsf6 G T 2: 162,931,707 V13F probably damaging Het
Stab1 G T 14: 31,161,357 T336N probably benign Het
Strbp A G 2: 37,586,504 probably benign Het
Tbc1d4 A G 14: 101,608,112 F117L probably damaging Het
Tcf20 A G 15: 82,854,895 V785A probably damaging Het
Ticrr A G 7: 79,677,283 K580E probably damaging Het
Ubr4 A T 4: 139,465,322 E4225D possibly damaging Het
Uck1 A T 2: 32,259,669 V66D probably damaging Het
Vmn2r25 A G 6: 123,853,171 F7S probably benign Het
Zan C T 5: 137,387,820 probably null Het
Zfp819 T A 7: 43,611,979 probably benign Het
Other mutations in Ankrd36
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02824:Ankrd36 APN 11 5574246 missense possibly damaging 0.67
IGL03204:Ankrd36 APN 11 5584023 missense possibly damaging 0.70
PIT4508001:Ankrd36 UTSW 11 5607137 missense possibly damaging 0.53
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
R7515:Ankrd36 UTSW 11 5628905 missense possibly damaging 0.94
U24488:Ankrd36 UTSW 11 5630772 missense probably damaging 0.99
Posted On2011-07-12