Incidental Mutation 'IGL03083:Ankrd24'
ID 417961
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd24
Ensembl Gene ENSMUSG00000054708
Gene Name ankyrin repeat domain 24
Synonyms 4631433D01Rik, D10Bur2e, 5730519E19Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.730) question?
Stock # IGL03083
Quality Score
Status
Chromosome 10
Chromosomal Location 81464374-81483444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81474483 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 72 (A72T)
Ref Sequence ENSEMBL: ENSMUSP00000118286 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119336] [ENSMUST00000123896] [ENSMUST00000123993] [ENSMUST00000126323] [ENSMUST00000152892] [ENSMUST00000140345]
AlphaFold Q80VM7
Predicted Effect unknown
Transcript: ENSMUST00000119336
AA Change: A216T
SMART Domains Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708
AA Change: A216T

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 probably benign
Transcript: ENSMUST00000126323
AA Change: A72T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118286
Gene: ENSMUSG00000054708
AA Change: A72T

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 noncoding transcript
Transcript: ENSMUST00000154707
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137978
Predicted Effect probably benign
Transcript: ENSMUST00000152892
SMART Domains Protein: ENSMUSP00000123676
Gene: ENSMUSG00000054708

DomainStartEndE-ValueType
ANK 24 53 7.53e-5 SMART
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Emilin3 G A 2: 160,750,649 (GRCm39) Q320* probably null Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T probably benign Het
Other mutations in Ankrd24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00776:Ankrd24 APN 10 81,478,979 (GRCm39) unclassified probably benign
IGL00809:Ankrd24 APN 10 81,478,901 (GRCm39) unclassified probably benign
IGL01021:Ankrd24 APN 10 81,470,995 (GRCm39) splice site probably null
IGL01073:Ankrd24 APN 10 81,475,156 (GRCm39) missense possibly damaging 0.76
IGL01875:Ankrd24 APN 10 81,465,571 (GRCm39) unclassified probably benign
IGL03335:Ankrd24 APN 10 81,482,967 (GRCm39) missense probably benign 0.18
R0129:Ankrd24 UTSW 10 81,474,163 (GRCm39) missense probably damaging 1.00
R0243:Ankrd24 UTSW 10 81,470,778 (GRCm39) missense probably damaging 1.00
R0522:Ankrd24 UTSW 10 81,472,189 (GRCm39) splice site probably benign
R0607:Ankrd24 UTSW 10 81,474,142 (GRCm39) missense probably damaging 0.98
R0707:Ankrd24 UTSW 10 81,478,547 (GRCm39) unclassified probably benign
R1472:Ankrd24 UTSW 10 81,470,754 (GRCm39) missense probably damaging 1.00
R1766:Ankrd24 UTSW 10 81,474,472 (GRCm39) missense probably benign 0.13
R1852:Ankrd24 UTSW 10 81,478,775 (GRCm39) unclassified probably benign
R1891:Ankrd24 UTSW 10 81,479,342 (GRCm39) unclassified probably benign
R2137:Ankrd24 UTSW 10 81,482,143 (GRCm39) missense probably damaging 1.00
R3790:Ankrd24 UTSW 10 81,478,513 (GRCm39) unclassified probably benign
R4798:Ankrd24 UTSW 10 81,479,149 (GRCm39) unclassified probably benign
R4952:Ankrd24 UTSW 10 81,482,982 (GRCm39) missense probably benign 0.01
R5068:Ankrd24 UTSW 10 81,475,699 (GRCm39) missense possibly damaging 0.87
R5237:Ankrd24 UTSW 10 81,478,379 (GRCm39) unclassified probably benign
R5418:Ankrd24 UTSW 10 81,480,776 (GRCm39) unclassified probably benign
R5795:Ankrd24 UTSW 10 81,480,937 (GRCm39) unclassified probably benign
R7188:Ankrd24 UTSW 10 81,472,224 (GRCm39) nonsense probably null
R7614:Ankrd24 UTSW 10 81,474,523 (GRCm39) missense unknown
R7750:Ankrd24 UTSW 10 81,482,628 (GRCm39) missense possibly damaging 0.72
R8004:Ankrd24 UTSW 10 81,474,191 (GRCm39) missense unknown
R8190:Ankrd24 UTSW 10 81,474,152 (GRCm39) missense unknown
R8415:Ankrd24 UTSW 10 81,475,947 (GRCm39) missense unknown
R8670:Ankrd24 UTSW 10 81,465,526 (GRCm39) start gained probably benign
R8898:Ankrd24 UTSW 10 81,478,352 (GRCm39) missense unknown
R9475:Ankrd24 UTSW 10 81,478,133 (GRCm39) critical splice acceptor site probably null
R9593:Ankrd24 UTSW 10 81,475,898 (GRCm39) missense unknown
R9744:Ankrd24 UTSW 10 81,482,951 (GRCm39) missense possibly damaging 0.70
R9780:Ankrd24 UTSW 10 81,482,196 (GRCm39) missense possibly damaging 0.73
RF001:Ankrd24 UTSW 10 81,479,405 (GRCm39) unclassified probably benign
RF011:Ankrd24 UTSW 10 81,479,405 (GRCm39) unclassified probably benign
RF037:Ankrd24 UTSW 10 81,479,407 (GRCm39) nonsense probably null
RF061:Ankrd24 UTSW 10 81,479,401 (GRCm39) nonsense probably null
Z1088:Ankrd24 UTSW 10 81,474,490 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02