Incidental Mutation 'R0358:Ankle1'
ID 29943
Institutional Source Beutler Lab
Gene Symbol Ankle1
Ensembl Gene ENSMUSG00000046295
Gene Name ankyrin repeat and LEM domain containing 1
Synonyms Ankrd41, 8430438L13Rik
MMRRC Submission 038564-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.392) question?
Stock # R0358 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 71858654-71862548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71860189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 256 (T256A)
Ref Sequence ENSEMBL: ENSMUSP00000113162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002473] [ENSMUST00000119976] [ENSMUST00000120725]
AlphaFold A8VU90
Predicted Effect probably benign
Transcript: ENSMUST00000002473
SMART Domains Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820

DomainStartEndE-ValueType
low complexity region 11 22 N/A INTRINSIC
low complexity region 54 67 N/A INTRINSIC
low complexity region 321 331 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119976
AA Change: T256A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113162
Gene: ENSMUSG00000046295
AA Change: T256A

DomainStartEndE-ValueType
ANK 6 35 7.52e2 SMART
ANK 39 71 4.01e0 SMART
ANK 75 104 2.37e-2 SMART
ANK 108 139 1.99e2 SMART
low complexity region 177 193 N/A INTRINSIC
Pfam:LEM 282 319 4.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120725
AA Change: T236A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000112797
Gene: ENSMUSG00000046295
AA Change: T236A

DomainStartEndE-ValueType
ANK 6 35 7.52e2 SMART
ANK 39 71 4.01e0 SMART
ANK 75 104 2.37e-2 SMART
ANK 108 139 1.99e2 SMART
low complexity region 157 173 N/A INTRINSIC
Pfam:LEM 261 300 1.8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136522
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212383
Meta Mutation Damage Score 0.1012 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.2%
  • 20x: 88.5%
Validation Efficiency 100% (64/64)
MGI Phenotype PHENOTYPE: Homozygous inactivation of this gene causes no overt phenotype or detectable defects in hematopoiesis. Mouse embryonic fibroblasts do not show an impaired DNA damage response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik G A 17: 79,935,585 (GRCm39) probably benign Het
Abca16 A T 7: 120,143,939 (GRCm39) K1651N probably benign Het
Abcb1b T C 5: 8,871,423 (GRCm39) S326P probably benign Het
Ache A G 5: 137,288,635 (GRCm39) T114A probably benign Het
Akap3 T A 6: 126,843,775 (GRCm39) V798D probably damaging Het
Aqp4 T C 18: 15,531,302 (GRCm39) N153S probably benign Het
Arhgap23 G A 11: 97,354,414 (GRCm39) V265M probably damaging Het
Arhgef25 A T 10: 127,020,322 (GRCm39) M326K probably damaging Het
Atp6v1c2 T C 12: 17,334,961 (GRCm39) probably benign Het
Cars1 A T 7: 143,142,219 (GRCm39) probably benign Het
Cep83 A T 10: 94,555,593 (GRCm39) M96L probably benign Het
Cfap46 A G 7: 139,231,449 (GRCm39) probably benign Het
Cnnm3 T A 1: 36,560,303 (GRCm39) S608T probably damaging Het
Cul7 G A 17: 46,974,670 (GRCm39) probably null Het
Dhrs2 G A 14: 55,473,574 (GRCm39) V78M probably damaging Het
Dhx38 A T 8: 110,279,094 (GRCm39) D1051E probably benign Het
Eftud2 A G 11: 102,755,627 (GRCm39) probably benign Het
Egln3 T C 12: 54,250,082 (GRCm39) E89G possibly damaging Het
Eif2ak4 A G 2: 118,294,410 (GRCm39) probably null Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Fsip2 A T 2: 82,813,677 (GRCm39) N3332I possibly damaging Het
Gbp2b A T 3: 142,312,550 (GRCm39) E311V probably damaging Het
Gcnt2 G T 13: 41,014,329 (GRCm39) A167S probably damaging Het
Gm9797 A T 10: 11,485,088 (GRCm39) noncoding transcript Het
Gpatch3 A G 4: 133,305,215 (GRCm39) probably null Het
Gpr22 T C 12: 31,759,981 (GRCm39) N47S probably benign Het
Il18rap A T 1: 40,588,202 (GRCm39) H600L possibly damaging Het
Larp7 A G 3: 127,340,737 (GRCm39) probably null Het
Mep1a A G 17: 43,789,841 (GRCm39) Y490H possibly damaging Het
Mrgprh T A 17: 13,096,237 (GRCm39) V159D probably damaging Het
Mylk G C 16: 34,699,845 (GRCm39) E403Q possibly damaging Het
Nrbp1 T A 5: 31,402,231 (GRCm39) I64N probably damaging Het
Nup214 G A 2: 31,894,312 (GRCm39) probably null Het
Or10d1b A G 9: 39,613,297 (GRCm39) I256T possibly damaging Het
Or13a21 G T 7: 139,998,856 (GRCm39) L277M probably damaging Het
Or2o1 T A 11: 49,051,071 (GRCm39) C77S probably benign Het
Or4k15b A T 14: 50,272,743 (GRCm39) L39Q probably damaging Het
Pef1 A G 4: 130,021,180 (GRCm39) T245A probably damaging Het
Phrf1 A G 7: 140,838,217 (GRCm39) probably benign Het
Ppig A G 2: 69,573,942 (GRCm39) probably benign Het
Ppp1r8 G T 4: 132,562,039 (GRCm39) F60L probably damaging Het
Psmd11 G A 11: 80,353,510 (GRCm39) probably benign Het
Ptk6 G T 2: 180,840,315 (GRCm39) H230Q probably benign Het
Ptprd T C 4: 75,863,226 (GRCm39) Y1496C probably damaging Het
Rhbdl3 G T 11: 80,244,457 (GRCm39) W388L probably damaging Het
Rnf130 T A 11: 49,962,109 (GRCm39) M185K probably benign Het
S100a13 A T 3: 90,423,299 (GRCm39) I97F probably damaging Het
Slc22a16 T G 10: 40,463,488 (GRCm39) probably null Het
Tcte1 A T 17: 45,846,211 (GRCm39) T272S probably benign Het
Terf1 T C 1: 15,876,062 (GRCm39) V54A possibly damaging Het
Tmem63a T A 1: 180,783,988 (GRCm39) N189K probably benign Het
Trim32 G A 4: 65,531,491 (GRCm39) R16Q probably damaging Het
Trim66 G A 7: 109,059,383 (GRCm39) Q954* probably null Het
Trpv4 A G 5: 114,768,493 (GRCm39) F525S probably damaging Het
Ttll7 A G 3: 146,649,871 (GRCm39) T634A probably benign Het
Tut7 T C 13: 59,929,918 (GRCm39) D47G probably damaging Het
Ush2a T G 1: 188,269,977 (GRCm39) N1741K possibly damaging Het
Wdr87-ps A T 7: 29,231,636 (GRCm39) noncoding transcript Het
Zfp451 T A 1: 33,816,810 (GRCm39) H163L probably damaging Het
Other mutations in Ankle1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02176:Ankle1 APN 8 71,858,903 (GRCm39) missense probably damaging 1.00
IGL02558:Ankle1 APN 8 71,861,636 (GRCm39) missense probably damaging 1.00
IGL02938:Ankle1 APN 8 71,858,896 (GRCm39) missense probably damaging 1.00
R1313:Ankle1 UTSW 8 71,859,857 (GRCm39) missense possibly damaging 0.61
R1313:Ankle1 UTSW 8 71,859,857 (GRCm39) missense possibly damaging 0.61
R1681:Ankle1 UTSW 8 71,860,262 (GRCm39) missense probably benign 0.00
R1776:Ankle1 UTSW 8 71,861,918 (GRCm39) missense probably damaging 0.99
R2070:Ankle1 UTSW 8 71,861,988 (GRCm39) missense probably damaging 1.00
R2073:Ankle1 UTSW 8 71,861,973 (GRCm39) missense possibly damaging 0.94
R2116:Ankle1 UTSW 8 71,860,562 (GRCm39) missense probably benign 0.13
R2117:Ankle1 UTSW 8 71,860,562 (GRCm39) missense probably benign 0.13
R4610:Ankle1 UTSW 8 71,859,851 (GRCm39) intron probably benign
R5027:Ankle1 UTSW 8 71,861,623 (GRCm39) missense probably damaging 1.00
R7051:Ankle1 UTSW 8 71,860,387 (GRCm39) missense probably damaging 0.99
R7268:Ankle1 UTSW 8 71,860,189 (GRCm39) missense probably damaging 1.00
R7795:Ankle1 UTSW 8 71,861,337 (GRCm39) missense probably damaging 0.99
R7900:Ankle1 UTSW 8 71,860,061 (GRCm39) missense probably damaging 1.00
R7934:Ankle1 UTSW 8 71,858,899 (GRCm39) missense possibly damaging 0.89
R8046:Ankle1 UTSW 8 71,860,665 (GRCm39) missense probably damaging 1.00
R8118:Ankle1 UTSW 8 71,860,279 (GRCm39) missense probably benign 0.09
R9057:Ankle1 UTSW 8 71,858,961 (GRCm39) missense probably benign 0.00
R9570:Ankle1 UTSW 8 71,859,424 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGAACTCAGACTACAGCAGCGATG -3'
(R):5'- AGGATTCCTGGAGTGTAGCCAGAC -3'

Sequencing Primer
(F):5'- TACAGCAGCGATGCTTCG -3'
(R):5'- GAGTGTAGCCAGACTCTGAATACC -3'
Posted On 2013-04-24