Incidental Mutation 'IGL01484:Ankrd36'
ID 88872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd36
Ensembl Gene ENSMUSG00000020481
Gene Name ankyrin repeat domain 36
Synonyms GC3, 1700012M14Rik, 1700008J08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL01484
Quality Score
Status
Chromosome 11
Chromosomal Location 5519684-5639337 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5579006 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 90 (H90R)
Ref Sequence ENSEMBL: ENSMUSP00000120499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109856] [ENSMUST00000118112] [ENSMUST00000137933]
AlphaFold D3Z4K0
Predicted Effect possibly damaging
Transcript: ENSMUST00000109856
AA Change: H733R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105482
Gene: ENSMUSG00000020481
AA Change: H733R

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: H765R

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122397
Gene: ENSMUSG00000020481
AA Change: H765R

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 possibly damaging
Transcript: ENSMUST00000137933
AA Change: H90R

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120499
Gene: ENSMUSG00000020481
AA Change: H90R

DomainStartEndE-ValueType
low complexity region 463 476 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsj A G 3: 126,158,685 (GRCm39) D88G probably damaging Het
Clca4b C T 3: 144,633,996 (GRCm39) V140I probably benign Het
Dagla A C 19: 10,225,884 (GRCm39) L760R possibly damaging Het
Dnah1 T C 14: 31,021,897 (GRCm39) E1202G probably damaging Het
Hdac9 T C 12: 34,487,164 (GRCm39) H100R probably damaging Het
Hhip T C 8: 80,723,412 (GRCm39) H414R probably damaging Het
Hk2 G A 6: 82,713,711 (GRCm39) T457M probably damaging Het
Iapp A G 6: 142,249,165 (GRCm39) T73A possibly damaging Het
Ifit1 A G 19: 34,626,243 (GRCm39) N460D probably damaging Het
Itpa T C 2: 130,514,019 (GRCm39) F77L probably benign Het
Knop1 T C 7: 118,452,032 (GRCm39) D229G probably damaging Het
Lrrc32 T C 7: 98,143,442 (GRCm39) I5T probably damaging Het
Myo7a C T 7: 97,734,629 (GRCm39) V622M probably damaging Het
N4bp1 T C 8: 87,571,400 (GRCm39) E866G probably damaging Het
Or2t48 A T 11: 58,420,222 (GRCm39) W197R probably benign Het
Palmd G A 3: 116,746,794 (GRCm39) probably benign Het
Pcbp4 A G 9: 106,337,848 (GRCm39) probably null Het
Pigf T C 17: 87,316,308 (GRCm39) I157V probably benign Het
Pot1b G A 17: 56,002,160 (GRCm39) T138M possibly damaging Het
Prl7a2 T A 13: 27,843,191 (GRCm39) D204V probably damaging Het
Rfc3 A T 5: 151,566,401 (GRCm39) D349E probably benign Het
Sarm1 A T 11: 78,381,839 (GRCm39) C215S probably damaging Het
Serpine1 T C 5: 137,092,326 (GRCm39) probably benign Het
Strip1 A G 3: 107,520,575 (GRCm39) V825A probably damaging Het
Stx12 A G 4: 132,611,673 (GRCm39) S2P probably damaging Het
Sycp1 A C 3: 102,823,183 (GRCm39) S311R probably benign Het
Tfpi A T 2: 84,275,169 (GRCm39) C139* probably null Het
Tmc5 T A 7: 118,256,010 (GRCm39) I695N probably damaging Het
Tmem169 T C 1: 72,340,263 (GRCm39) V231A probably damaging Het
Ttbk2 T G 2: 120,570,314 (GRCm39) S1211R possibly damaging Het
Ubr3 C T 2: 69,851,888 (GRCm39) R1855* probably null Het
Urb1 A T 16: 90,574,448 (GRCm39) S878T probably benign Het
Vmn1r174 T A 7: 23,453,749 (GRCm39) Y138* probably null Het
Zfp282 A G 6: 47,867,054 (GRCm39) N214D possibly damaging Het
Other mutations in Ankrd36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Ankrd36 APN 11 5,570,131 (GRCm39) missense probably benign 0.01
IGL01361:Ankrd36 APN 11 5,546,706 (GRCm39) splice site probably benign
IGL01370:Ankrd36 APN 11 5,534,019 (GRCm39) missense probably benign 0.06
IGL01384:Ankrd36 APN 11 5,578,348 (GRCm39) missense probably benign 0.33
IGL01524:Ankrd36 APN 11 5,585,092 (GRCm39) missense probably benign
IGL01700:Ankrd36 APN 11 5,582,198 (GRCm39) missense probably benign 0.05
IGL02322:Ankrd36 APN 11 5,564,619 (GRCm39) missense possibly damaging 0.86
IGL02511:Ankrd36 APN 11 5,610,845 (GRCm39) splice site probably null
IGL02824:Ankrd36 APN 11 5,524,246 (GRCm39) missense possibly damaging 0.67
IGL03204:Ankrd36 APN 11 5,534,023 (GRCm39) missense possibly damaging 0.70
PIT4508001:Ankrd36 UTSW 11 5,557,137 (GRCm39) missense possibly damaging 0.53
R0058:Ankrd36 UTSW 11 5,580,691 (GRCm39) splice site probably benign
R0058:Ankrd36 UTSW 11 5,580,691 (GRCm39) splice site probably benign
R0304:Ankrd36 UTSW 11 5,578,981 (GRCm39) missense possibly damaging 0.55
R0504:Ankrd36 UTSW 11 5,579,274 (GRCm39) missense probably damaging 0.99
R0550:Ankrd36 UTSW 11 5,557,429 (GRCm39) critical splice donor site probably null
R0563:Ankrd36 UTSW 11 5,579,322 (GRCm39) missense probably benign 0.33
R0891:Ankrd36 UTSW 11 5,637,316 (GRCm39) missense possibly damaging 0.72
R1018:Ankrd36 UTSW 11 5,596,876 (GRCm39) unclassified probably benign
R1468:Ankrd36 UTSW 11 5,525,752 (GRCm39) missense probably damaging 0.99
R1468:Ankrd36 UTSW 11 5,525,752 (GRCm39) missense probably damaging 0.99
R1558:Ankrd36 UTSW 11 5,585,329 (GRCm39) missense probably damaging 0.99
R1663:Ankrd36 UTSW 11 5,570,126 (GRCm39) missense possibly damaging 0.70
R1682:Ankrd36 UTSW 11 5,557,143 (GRCm39) missense possibly damaging 0.84
R1898:Ankrd36 UTSW 11 5,525,683 (GRCm39) missense probably benign 0.33
R2019:Ankrd36 UTSW 11 5,639,140 (GRCm39) missense probably benign
R2032:Ankrd36 UTSW 11 5,578,616 (GRCm39) missense possibly damaging 0.86
R2084:Ankrd36 UTSW 11 5,612,378 (GRCm39) nonsense probably null
R4097:Ankrd36 UTSW 11 5,578,703 (GRCm39) missense possibly damaging 0.85
R4572:Ankrd36 UTSW 11 5,639,340 (GRCm39) splice site probably null
R4601:Ankrd36 UTSW 11 5,520,102 (GRCm39) missense probably benign 0.04
R4770:Ankrd36 UTSW 11 5,540,870 (GRCm39) missense possibly damaging 0.73
R4777:Ankrd36 UTSW 11 5,557,120 (GRCm39) missense probably benign
R4894:Ankrd36 UTSW 11 5,585,332 (GRCm39) missense probably damaging 0.98
R5288:Ankrd36 UTSW 11 5,639,340 (GRCm39) unclassified probably benign
R5366:Ankrd36 UTSW 11 5,542,841 (GRCm39) nonsense probably null
R5384:Ankrd36 UTSW 11 5,639,340 (GRCm39) unclassified probably benign
R5385:Ankrd36 UTSW 11 5,639,340 (GRCm39) unclassified probably benign
R6109:Ankrd36 UTSW 11 5,578,941 (GRCm39) missense probably damaging 0.98
R6155:Ankrd36 UTSW 11 5,637,442 (GRCm39) missense probably benign 0.00
R6186:Ankrd36 UTSW 11 5,593,812 (GRCm39) missense possibly damaging 0.81
R6289:Ankrd36 UTSW 11 5,578,837 (GRCm39) missense probably damaging 0.96
R6476:Ankrd36 UTSW 11 5,578,753 (GRCm39) missense probably benign 0.05
R6816:Ankrd36 UTSW 11 5,593,765 (GRCm39) missense possibly damaging 0.66
R6880:Ankrd36 UTSW 11 5,578,748 (GRCm39) missense probably damaging 0.99
R6919:Ankrd36 UTSW 11 5,579,299 (GRCm39) missense probably benign
R7007:Ankrd36 UTSW 11 5,639,168 (GRCm39) missense probably benign 0.00
R7515:Ankrd36 UTSW 11 5,578,905 (GRCm39) missense possibly damaging 0.94
R7617:Ankrd36 UTSW 11 5,637,348 (GRCm39) missense probably benign 0.33
R7684:Ankrd36 UTSW 11 5,520,113 (GRCm39) missense possibly damaging 0.49
R7746:Ankrd36 UTSW 11 5,637,451 (GRCm39) missense possibly damaging 0.96
R7783:Ankrd36 UTSW 11 5,585,359 (GRCm39) missense probably damaging 0.99
R7790:Ankrd36 UTSW 11 5,585,176 (GRCm39) missense possibly damaging 0.80
R8221:Ankrd36 UTSW 11 5,534,016 (GRCm39) missense possibly damaging 0.53
R8671:Ankrd36 UTSW 11 5,579,312 (GRCm39) missense probably benign 0.05
R8732:Ankrd36 UTSW 11 5,578,906 (GRCm39) missense possibly damaging 0.90
R8768:Ankrd36 UTSW 11 5,593,763 (GRCm39) missense probably benign 0.00
R9026:Ankrd36 UTSW 11 5,610,696 (GRCm39) missense probably benign
R9093:Ankrd36 UTSW 11 5,589,132 (GRCm39) missense probably benign
R9211:Ankrd36 UTSW 11 5,612,370 (GRCm39) missense possibly damaging 0.85
R9300:Ankrd36 UTSW 11 5,519,979 (GRCm39) missense possibly damaging 0.84
R9644:Ankrd36 UTSW 11 5,593,835 (GRCm39) missense possibly damaging 0.90
RF004:Ankrd36 UTSW 11 5,612,411 (GRCm39) missense possibly damaging 0.53
U24488:Ankrd36 UTSW 11 5,580,772 (GRCm39) missense probably damaging 0.99
Z1176:Ankrd36 UTSW 11 5,565,538 (GRCm39) missense probably benign
Z1177:Ankrd36 UTSW 11 5,593,738 (GRCm39) missense probably damaging 0.96
Z1177:Ankrd36 UTSW 11 5,579,345 (GRCm39) missense probably benign 0.01
Z1177:Ankrd36 UTSW 11 5,521,117 (GRCm39) missense probably damaging 0.97
Posted On 2013-11-18