Incidental Mutation 'IGL01073:Ankrd24'
ID52052
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd24
Ensembl Gene ENSMUSG00000054708
Gene Nameankyrin repeat domain 24
Synonyms4631433D01Rik, 5730519E19Rik, D10Bur2e
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.562) question?
Stock #IGL01073
Quality Score
Status
Chromosome10
Chromosomal Location81628540-81647610 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81639322 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 110 (D110G)
Ref Sequence ENSEMBL: ENSMUSP00000118286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119336] [ENSMUST00000123896] [ENSMUST00000123993] [ENSMUST00000126323] [ENSMUST00000140345] [ENSMUST00000152892]
Predicted Effect unknown
Transcript: ENSMUST00000119336
AA Change: D254G
SMART Domains Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708
AA Change: D254G

DomainStartEndE-ValueType
Blast:ANK 18 48 1e-6 BLAST
ANK 52 81 2.92e-2 SMART
ANK 85 114 7.53e-5 SMART
ANK 118 149 4.07e-1 SMART
ANK 151 180 2.92e-2 SMART
ANK 184 213 3.97e-4 SMART
low complexity region 240 250 N/A INTRINSIC
low complexity region 269 283 N/A INTRINSIC
internal_repeat_2 488 606 4.87e-8 PROSPERO
internal_repeat_2 597 713 4.87e-8 PROSPERO
low complexity region 718 736 N/A INTRINSIC
coiled coil region 747 895 N/A INTRINSIC
Blast:ANK 950 977 3e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000123305
Predicted Effect probably benign
Transcript: ENSMUST00000123896
SMART Domains Protein: ENSMUSP00000116603
Gene: ENSMUSG00000054708

DomainStartEndE-ValueType
ANK 23 54 4.07e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123993
SMART Domains Protein: ENSMUSP00000117975
Gene: ENSMUSG00000054708

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:ANK 48 78 2e-8 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000126323
AA Change: D110G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118286
Gene: ENSMUSG00000054708
AA Change: D110G

DomainStartEndE-ValueType
ANK 7 36 2.92e-2 SMART
ANK 40 69 3.97e-4 SMART
low complexity region 96 106 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129491
Predicted Effect probably benign
Transcript: ENSMUST00000132458
SMART Domains Protein: ENSMUSP00000121709
Gene: ENSMUSG00000054708

DomainStartEndE-ValueType
coiled coil region 1 94 N/A INTRINSIC
Blast:ANK 142 175 3e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137978
Predicted Effect probably benign
Transcript: ENSMUST00000140345
SMART Domains Protein: ENSMUSP00000123618
Gene: ENSMUSG00000054708

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:ANK 48 78 9e-8 BLAST
ANK 82 111 2.92e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000152892
SMART Domains Protein: ENSMUSP00000123676
Gene: ENSMUSG00000054708

DomainStartEndE-ValueType
ANK 24 53 7.53e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154707
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccnd3 A G 17: 47,594,845 T104A probably benign Het
Cntnap5b A T 1: 100,076,030 D245V probably benign Het
Cryab A G 9: 50,754,555 K82R probably damaging Het
Dnmt3b G A 2: 153,670,842 probably benign Het
Eif2b5 A T 16: 20,500,296 K99* probably null Het
Fam222b A G 11: 78,154,488 I292V probably damaging Het
Itpr1 A C 6: 108,413,820 N1560T probably benign Het
Lca5 T A 9: 83,395,475 K605N probably damaging Het
Letm1 T C 5: 33,748,800 D424G possibly damaging Het
Mtif3 C A 5: 146,958,980 R99L probably damaging Het
Nrxn3 A G 12: 89,254,740 M430V probably benign Het
Olfr1226 A T 2: 89,193,137 L299Q possibly damaging Het
Pgap2 T A 7: 102,226,454 probably benign Het
Phf11c A T 14: 59,389,348 S129T probably benign Het
Ptpro A G 6: 137,377,088 N154S probably damaging Het
Rfng C T 11: 120,783,921 R81H probably benign Het
Rnf38 A G 4: 44,137,645 M280T probably benign Het
Rrp7a G A 15: 83,118,081 A185V probably benign Het
Slc22a2 C A 17: 12,584,349 F23L probably benign Het
Slc35f1 A G 10: 53,021,960 T156A probably benign Het
Slfn1 A T 11: 83,121,337 Y93F probably benign Het
Snrnp200 A T 2: 127,214,912 probably benign Het
Sos1 A G 17: 80,422,747 F701S probably damaging Het
Tmem203 A C 2: 25,255,724 I19L probably benign Het
Usp8 A T 2: 126,718,114 K18N probably damaging Het
Vmn2r115 G A 17: 23,345,997 R286K probably benign Het
Vmn2r23 A C 6: 123,712,800 T212P possibly damaging Het
Other mutations in Ankrd24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Ankrd24 APN 10 81643145 unclassified probably benign
IGL00809:Ankrd24 APN 10 81643067 unclassified probably benign
IGL01021:Ankrd24 APN 10 81635161 splice site probably null
IGL01875:Ankrd24 APN 10 81629737 unclassified probably benign
IGL03083:Ankrd24 APN 10 81638649 missense probably benign
IGL03335:Ankrd24 APN 10 81647133 missense probably benign 0.18
R0129:Ankrd24 UTSW 10 81638329 missense probably damaging 1.00
R0243:Ankrd24 UTSW 10 81634944 missense probably damaging 1.00
R0522:Ankrd24 UTSW 10 81636355 splice site probably benign
R0607:Ankrd24 UTSW 10 81638308 missense probably damaging 0.98
R0707:Ankrd24 UTSW 10 81642713 unclassified probably benign
R1472:Ankrd24 UTSW 10 81634920 missense probably damaging 1.00
R1766:Ankrd24 UTSW 10 81638638 missense probably benign 0.13
R1852:Ankrd24 UTSW 10 81642941 unclassified probably benign
R1891:Ankrd24 UTSW 10 81643508 unclassified probably benign
R2137:Ankrd24 UTSW 10 81646309 missense probably damaging 1.00
R3790:Ankrd24 UTSW 10 81642679 unclassified probably benign
R4798:Ankrd24 UTSW 10 81643315 unclassified probably benign
R4952:Ankrd24 UTSW 10 81647148 missense probably benign 0.01
R5068:Ankrd24 UTSW 10 81639865 missense possibly damaging 0.87
R5237:Ankrd24 UTSW 10 81642545 unclassified probably benign
R5418:Ankrd24 UTSW 10 81644942 unclassified probably benign
R5795:Ankrd24 UTSW 10 81645103 unclassified probably benign
R7188:Ankrd24 UTSW 10 81636390 nonsense probably null
R7614:Ankrd24 UTSW 10 81638689 missense unknown
R7750:Ankrd24 UTSW 10 81646794 missense possibly damaging 0.72
R8004:Ankrd24 UTSW 10 81638357 missense unknown
R8190:Ankrd24 UTSW 10 81638318 missense unknown
R8415:Ankrd24 UTSW 10 81640113 missense unknown
R8670:Ankrd24 UTSW 10 81629692 start gained probably benign
RF001:Ankrd24 UTSW 10 81643571 unclassified probably benign
RF011:Ankrd24 UTSW 10 81643571 unclassified probably benign
RF037:Ankrd24 UTSW 10 81643573 nonsense probably null
RF061:Ankrd24 UTSW 10 81643567 nonsense probably null
Z1088:Ankrd24 UTSW 10 81638656 missense probably damaging 1.00
Posted On2013-06-21