Incidental Mutation 'R7614:Ankrd24'
ID 588776
Institutional Source Beutler Lab
Gene Symbol Ankrd24
Ensembl Gene ENSMUSG00000054708
Gene Name ankyrin repeat domain 24
Synonyms 4631433D01Rik, D10Bur2e, 5730519E19Rik
MMRRC Submission 045682-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.730) question?
Stock # R7614 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 81464374-81483444 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 81474523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 229 (G229E)
Ref Sequence ENSEMBL: ENSMUSP00000112932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119336] [ENSMUST00000123896] [ENSMUST00000123993] [ENSMUST00000126323] [ENSMUST00000140345] [ENSMUST00000152892]
AlphaFold Q80VM7
Predicted Effect unknown
Transcript: ENSMUST00000119336
AA Change: G229E
SMART Domains Protein: ENSMUSP00000112932
Gene: ENSMUSG00000054708
AA Change: G229E

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 unknown
Transcript: ENSMUST00000126323
AA Change: G85E
SMART Domains Protein: ENSMUSP00000118286
Gene: ENSMUSG00000054708
AA Change: G85E

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 A G 1: 156,464,429 (GRCm39) T535A possibly damaging Het
Adcy9 A T 16: 4,236,088 (GRCm39) L441Q probably damaging Het
Adgrv1 A T 13: 81,668,780 (GRCm39) V2592E probably damaging Het
Ahdc1 A G 4: 132,790,825 (GRCm39) S689G probably benign Het
Ankrd34c T A 9: 89,610,914 (GRCm39) I476F probably damaging Het
Arhgef19 A G 4: 140,984,090 (GRCm39) H770R possibly damaging Het
Arhgef4 T G 1: 34,771,316 (GRCm39) S1208A possibly damaging Het
Arid1a A T 4: 133,418,466 (GRCm39) M654K unknown Het
Atp11b T A 3: 35,864,259 (GRCm39) probably null Het
Cadps A G 14: 12,454,260 (GRCm38) I1086T probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cfap276 T A 3: 108,449,848 (GRCm39) D42E probably benign Het
Cntn3 T C 6: 102,142,337 (GRCm39) H1010R probably benign Het
Cyp2c66 T A 19: 39,159,472 (GRCm39) Y308N probably damaging Het
Dok6 T A 18: 89,492,067 (GRCm39) H170L probably damaging Het
Eefsec C T 6: 88,258,576 (GRCm39) D506N possibly damaging Het
Fam181a C T 12: 103,282,805 (GRCm39) P237S probably damaging Het
Fam186b T C 15: 99,184,867 (GRCm39) I19V probably damaging Het
Gm3285 A T 10: 77,697,865 (GRCm39) T5S unknown Het
Heg1 A G 16: 33,547,733 (GRCm39) E864G probably benign Het
Herc2 T A 7: 55,803,023 (GRCm39) L2124* probably null Het
Hexa T C 9: 59,469,230 (GRCm39) S331P probably damaging Het
Hspb1 A T 5: 135,917,223 (GRCm39) D104V probably damaging Het
Ikzf1 A T 11: 11,719,019 (GRCm39) Q329L probably damaging Het
Kcnf1 C A 12: 17,224,787 (GRCm39) R478L probably benign Het
Kdm3a T C 6: 71,568,937 (GRCm39) T1161A possibly damaging Het
Krtap31-2 T C 11: 99,827,429 (GRCm39) I87T possibly damaging Het
Lars2 T C 9: 123,224,176 (GRCm39) S116P Het
Lrrk2 A G 15: 91,657,061 (GRCm39) D1785G probably damaging Het
Myo10 A G 15: 25,701,709 (GRCm39) H61R probably benign Het
Or10x4 T G 1: 174,219,220 (GRCm39) F195C probably damaging Het
Or9s13 A G 1: 92,548,183 (GRCm39) Y185C probably damaging Het
Pcdhb4 C A 18: 37,442,602 (GRCm39) H637Q probably benign Het
Pcsk9 T A 4: 106,304,763 (GRCm39) D435V probably benign Het
Prickle2 T A 6: 92,402,631 (GRCm39) Y119F possibly damaging Het
Prr5 A G 15: 84,641,276 (GRCm39) T181A probably benign Het
Psd T A 19: 46,301,877 (GRCm39) Q903L probably damaging Het
Ptpn13 T A 5: 103,649,331 (GRCm39) S245T probably benign Het
Resp18 T C 1: 75,254,882 (GRCm39) S24G probably damaging Het
Slc17a4 T C 13: 24,090,580 (GRCm39) T89A probably benign Het
Slc9a9 A G 9: 94,737,792 (GRCm39) Y233C probably damaging Het
Slit1 T A 19: 41,622,639 (GRCm39) I707F probably damaging Het
Sp4 T C 12: 118,218,174 (GRCm39) E691G possibly damaging Het
Sun2 G T 15: 79,623,225 (GRCm39) probably null Het
Syne3 T C 12: 104,912,901 (GRCm39) T723A not run Het
Tcp1 T A 17: 13,141,540 (GRCm39) F340I possibly damaging Het
Tmem39b A T 4: 129,587,694 (GRCm39) V39D probably damaging Het
Tmtc3 A T 10: 100,286,214 (GRCm39) Y536* probably null Het
Tnfrsf11a A T 1: 105,755,094 (GRCm39) T389S probably damaging Het
Ttn T C 2: 76,598,873 (GRCm39) T19347A possibly damaging Het
Vmn1r68 A G 7: 10,261,553 (GRCm39) S182P probably benign Het
Vmn2r95 A G 17: 18,660,352 (GRCm39) T255A probably benign Het
Wdr59 T C 8: 112,219,394 (GRCm39) Y221C 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
IGL03083:Ankrd24 APN 10 81,474,483 (GRCm39) missense 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
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
Predicted Primers PCR Primer
(F):5'- GGCCTGGGTACAAAGACAGTTG -3'
(R):5'- TGAGGCTTCTTGAAACTGCCC -3'

Sequencing Primer
(F):5'- CCTGGGTACAAAGACAGTTGTATGG -3'
(R):5'- GCTTCTTGAAACTGCCCTGAGTTAAG -3'
Posted On 2019-10-24