Incidental Mutation 'IGL03335:Ankrd24'
ID417000
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: 0.598) question?
Stock #IGL03335
Quality Score
Status
Chromosome10
Chromosomal Location81628540-81647610 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 81647133 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 972 (S972G)
Ref Sequence ENSEMBL: ENSMUSP00000112932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119336] [ENSMUST00000123993] [ENSMUST00000189672]
Predicted Effect probably benign
Transcript: ENSMUST00000119336
AA Change: S972G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708
AA Change: S972G

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: 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 unknown
Transcript: ENSMUST00000132458
AA Change: S163G
SMART Domains Protein: ENSMUSP00000121709
Gene: ENSMUSG00000054708
AA Change: S163G

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 noncoding transcript
Transcript: ENSMUST00000142390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154707
Predicted Effect probably benign
Transcript: ENSMUST00000189672
SMART Domains Protein: ENSMUSP00000140398
Gene: ENSMUSG00000096856

DomainStartEndE-ValueType
KRAB 4 66 1.5e-18 SMART
ZnF_C2H2 104 126 6.4e-6 SMART
ZnF_C2H2 132 154 4.4e-8 SMART
ZnF_C2H2 160 182 1.5e-5 SMART
ZnF_C2H2 188 210 3.5e-6 SMART
ZnF_C2H2 216 238 2.9e-6 SMART
ZnF_C2H2 244 266 3e-5 SMART
ZnF_C2H2 272 294 7.7e-6 SMART
ZnF_C2H2 300 322 2e-5 SMART
ZnF_C2H2 328 350 1.4e-6 SMART
ZnF_C2H2 356 378 1.4e-4 SMART
ZnF_C2H2 384 406 9.4e-6 SMART
ZnF_C2H2 412 434 4.3e-5 SMART
ZnF_C2H2 440 462 2e-6 SMART
ZnF_C2H2 468 490 3.7e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,935,258 V713A probably benign Het
Actr8 T C 14: 29,978,557 V31A probably benign Het
Alcam A C 16: 52,291,003 Y244* probably null Het
Aox1 T A 1: 58,076,160 V768E probably damaging Het
Btbd11 A T 10: 85,658,358 probably benign Het
C130060K24Rik T C 6: 65,453,117 probably null Het
Carmil2 A G 8: 105,697,029 I1212V probably benign Het
Catsper1 C T 19: 5,336,311 R191C probably damaging Het
Cenpe T A 3: 135,243,625 V57D probably benign Het
Cpsf3 T C 12: 21,306,887 probably null Het
Cubn A G 2: 13,360,329 S1633P probably damaging Het
Dsg1c G A 18: 20,283,697 R885Q probably benign Het
Egfl6 C A X: 166,538,693 G272W probably damaging Het
Ermard T C 17: 15,059,406 L486P probably damaging Het
F13b A T 1: 139,522,386 L595F probably damaging Het
Foxm1 A G 6: 128,372,568 N350S possibly damaging Het
Fras1 T C 5: 96,733,944 probably benign Het
Gpr152 C A 19: 4,143,771 T437N possibly damaging Het
Icmt T A 4: 152,300,697 Y205* probably null Het
Ints8 A T 4: 11,216,460 F844I probably damaging Het
Mep1a T A 17: 43,477,173 D664V possibly damaging Het
Muc4 T A 16: 32,753,021 N966K probably benign Het
Myo7b T A 18: 31,985,020 Q851L possibly damaging Het
Pdzd2 T C 15: 12,373,764 H2095R probably benign Het
Phldb1 A G 9: 44,728,069 L4P possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pnpla8 T A 12: 44,283,164 N166K probably benign Het
Rapgef2 A G 3: 79,099,185 M137T probably damaging Het
Rbm15b G A 9: 106,884,339 H877Y probably damaging Het
Rbm45 T C 2: 76,376,433 L263P probably damaging Het
Rprd1b T C 2: 158,074,964 V288A probably damaging Het
Tmtc3 C A 10: 100,466,254 V278L probably damaging Het
Tomm70a A G 16: 57,149,926 T556A probably damaging Het
Trpc7 T C 13: 56,887,691 E143G probably damaging Het
Trpm3 G T 19: 22,926,071 probably null Het
Ugt2b34 T C 5: 86,906,640 E94G probably benign Het
Vmn1r174 T C 7: 23,754,512 V201A probably benign Het
Zfp352 T C 4: 90,224,346 F241S probably 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
IGL01073:Ankrd24 APN 10 81639322 missense possibly damaging 0.76
IGL01875:Ankrd24 APN 10 81629737 unclassified probably benign
IGL03083:Ankrd24 APN 10 81638649 missense probably benign
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 On2016-08-02