Incidental Mutation 'IGL01663:Ankrd16'
ID 103239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd16
Ensembl Gene ENSMUSG00000047909
Gene Name ankyrin repeat domain 16
Synonyms D430029B21Rik, 2810455F06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # IGL01663
Quality Score
Status
Chromosome 2
Chromosomal Location 11782687-11795140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11783473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 25 (E25G)
Ref Sequence ENSEMBL: ENSMUSP00000141685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056108] [ENSMUST00000071564] [ENSMUST00000130186] [ENSMUST00000156067] [ENSMUST00000133664]
AlphaFold A2AS55
Predicted Effect possibly damaging
Transcript: ENSMUST00000056108
AA Change: E25G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000052056
Gene: ENSMUSG00000047909
AA Change: E25G

DomainStartEndE-ValueType
ANK 36 66 1.15e0 SMART
ANK 70 99 7.95e-4 SMART
ANK 103 132 1.59e-3 SMART
ANK 136 167 1.74e0 SMART
ANK 170 200 7.71e-2 SMART
ANK 204 233 5.01e-1 SMART
ANK 238 268 1.37e2 SMART
ANK 273 302 7.53e-5 SMART
ANK 306 336 4.07e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000071564
SMART Domains Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594

DomainStartEndE-ValueType
FBOX 213 256 3.94e-3 SMART
Pfam:UvrD-helicase 626 692 8e-10 PFAM
Pfam:UvrD_C 862 935 1.7e-12 PFAM
Pfam:UvrD_C_2 867 931 1.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125024
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126543
Predicted Effect probably damaging
Transcript: ENSMUST00000130186
AA Change: E25G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141685
Gene: ENSMUSG00000047909
AA Change: E25G

DomainStartEndE-ValueType
ANK 36 66 7.2e-3 SMART
Pfam:Ank 72 90 7.9e-3 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000156067
AA Change: E25G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115525
Gene: ENSMUSG00000047909
AA Change: E25G

DomainStartEndE-ValueType
ANK 36 66 1.15e0 SMART
ANK 70 99 7.95e-4 SMART
ANK 103 132 1.59e-3 SMART
ANK 136 165 9.46e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145547
Predicted Effect probably benign
Transcript: ENSMUST00000133664
SMART Domains Protein: ENSMUSP00000115226
Gene: ENSMUSG00000047909

DomainStartEndE-ValueType
Pfam:Ank 1 29 1.5e-3 PFAM
Pfam:Ank_4 1 51 7.3e-11 PFAM
Pfam:Ank_2 1 56 8.9e-11 PFAM
Pfam:Ank_5 18 56 1.8e-6 PFAM
Pfam:Ank 30 55 3e-5 PFAM
Pfam:Ank_3 30 55 2.7e-3 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,168,628 (GRCm39) I1085V possibly damaging Het
Adamts16 T C 13: 70,941,260 (GRCm39) T376A probably benign Het
Aifm3 T A 16: 17,320,650 (GRCm39) probably null Het
Ano6 T A 15: 95,865,495 (GRCm39) probably null Het
Cdh18 T C 15: 23,446,077 (GRCm39) I509T possibly damaging Het
Cdon A G 9: 35,394,510 (GRCm39) T919A possibly damaging Het
Clca3a2 G A 3: 144,522,916 (GRCm39) P148L probably damaging Het
Dnph1 G T 17: 46,809,408 (GRCm39) R74L probably benign Het
Epha6 C T 16: 59,596,007 (GRCm39) A895T probably damaging Het
Exoc3l4 T A 12: 111,395,845 (GRCm39) probably benign Het
Fbll1 A G 11: 35,688,648 (GRCm39) I205T probably damaging Het
Frem2 T A 3: 53,424,434 (GRCm39) H3001L probably damaging Het
Galk2 A G 2: 125,825,099 (GRCm39) N432D probably benign Het
Gm7535 A C 17: 18,131,619 (GRCm39) probably benign Het
Il10 A G 1: 130,949,151 (GRCm39) E104G probably benign Het
Il1a T C 2: 129,146,637 (GRCm39) K152R probably benign Het
Kdm1b T A 13: 47,227,213 (GRCm39) N568K probably damaging Het
Kmt2c A C 5: 25,515,668 (GRCm39) L2725R probably damaging Het
Krba1 G T 6: 48,388,688 (GRCm39) L527F probably damaging Het
Lrp2 A G 2: 69,259,050 (GRCm39) S4547P probably benign Het
Nin G T 12: 70,090,439 (GRCm39) A992E possibly damaging Het
Or11g7 G A 14: 50,690,607 (GRCm39) V33M probably benign Het
Or5p81 T A 7: 108,267,098 (GRCm39) H158Q probably benign Het
Pcdhb1 A G 18: 37,400,186 (GRCm39) I712M possibly damaging Het
Prmt2 C T 10: 76,053,143 (GRCm39) probably null Het
Rbm20 T G 19: 53,829,426 (GRCm39) V608G probably damaging Het
Smarcc2 C T 10: 128,324,846 (GRCm39) probably benign Het
Speer3 A T 5: 13,843,236 (GRCm39) R48* probably null Het
Tlr1 A T 5: 65,082,416 (GRCm39) N720K possibly damaging Het
Tnfrsf21 A T 17: 43,398,702 (GRCm39) M603L probably benign Het
Ttc3 T A 16: 94,210,590 (GRCm39) probably null Het
Usp4 C A 9: 108,243,079 (GRCm39) A249E possibly damaging Het
Wdr20 T A 12: 110,759,948 (GRCm39) V278E probably damaging Het
Other mutations in Ankrd16
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0280:Ankrd16 UTSW 2 11,786,312 (GRCm39) missense probably damaging 1.00
R0521:Ankrd16 UTSW 2 11,794,692 (GRCm39) missense probably benign
R1441:Ankrd16 UTSW 2 11,783,557 (GRCm39) missense probably damaging 1.00
R1699:Ankrd16 UTSW 2 11,789,204 (GRCm39) missense probably benign
R1858:Ankrd16 UTSW 2 11,783,407 (GRCm39) missense probably benign
R1944:Ankrd16 UTSW 2 11,788,443 (GRCm39) splice site probably null
R2074:Ankrd16 UTSW 2 11,794,559 (GRCm39) missense possibly damaging 0.82
R2104:Ankrd16 UTSW 2 11,784,711 (GRCm39) intron probably benign
R2131:Ankrd16 UTSW 2 11,788,506 (GRCm39) missense probably damaging 1.00
R3847:Ankrd16 UTSW 2 11,794,619 (GRCm39) missense probably benign 0.04
R3940:Ankrd16 UTSW 2 11,789,192 (GRCm39) missense probably benign
R4424:Ankrd16 UTSW 2 11,789,215 (GRCm39) missense possibly damaging 0.95
R4707:Ankrd16 UTSW 2 11,783,608 (GRCm39) missense probably damaging 1.00
R4863:Ankrd16 UTSW 2 11,789,127 (GRCm39) missense probably benign 0.05
R5026:Ankrd16 UTSW 2 11,794,692 (GRCm39) missense probably benign 0.05
R5079:Ankrd16 UTSW 2 11,783,710 (GRCm39) missense probably damaging 1.00
R5251:Ankrd16 UTSW 2 11,783,552 (GRCm39) missense probably damaging 1.00
R5304:Ankrd16 UTSW 2 11,794,545 (GRCm39) missense probably benign
R5746:Ankrd16 UTSW 2 11,789,178 (GRCm39) missense probably damaging 0.99
R6932:Ankrd16 UTSW 2 11,791,054 (GRCm39) missense possibly damaging 0.90
R6958:Ankrd16 UTSW 2 11,784,604 (GRCm39) missense probably damaging 1.00
R9228:Ankrd16 UTSW 2 11,786,318 (GRCm39) missense probably benign 0.00
R9259:Ankrd16 UTSW 2 11,784,532 (GRCm39) missense probably damaging 0.98
Z1088:Ankrd16 UTSW 2 11,784,629 (GRCm39) frame shift probably null
Posted On 2014-01-21