Incidental Mutation 'IGL02938:Ankle1'
ID 364438
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankle1
Ensembl Gene ENSMUSG00000046295
Gene Name ankyrin repeat and LEM domain containing 1
Synonyms Ankrd41, 8430438L13Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.338) question?
Stock # IGL02938
Quality Score
Status
Chromosome 8
Chromosomal Location 71858654-71862548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71858896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 43 (A43V)
Ref Sequence ENSEMBL: ENSMUSP00000112797 (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: A43V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113162
Gene: ENSMUSG00000046295
AA Change: A43V

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 damaging
Transcript: ENSMUST00000120725
AA Change: A43V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112797
Gene: ENSMUSG00000046295
AA Change: A43V

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
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T C 16: 20,180,979 (GRCm39) T1152A possibly damaging Het
Adgra3 T C 5: 50,118,659 (GRCm39) D963G probably benign Het
Adrm1 T A 2: 179,817,395 (GRCm39) D287E probably damaging Het
Agxt A G 1: 93,072,831 (GRCm39) D396G probably damaging Het
Apc A G 18: 34,448,281 (GRCm39) I1692V probably damaging Het
Arhgef18 T C 8: 3,500,802 (GRCm39) V588A probably benign Het
Ccdc62 T A 5: 124,072,247 (GRCm39) V4E probably benign Het
Cdh16 A T 8: 105,343,561 (GRCm39) probably benign Het
Cr2 A T 1: 194,848,696 (GRCm39) C276S probably damaging Het
Cyp2c29 T A 19: 39,275,567 (GRCm39) D2E probably damaging Het
Ddx31 T A 2: 28,749,035 (GRCm39) V277E possibly damaging Het
Defa35 C T 8: 21,555,930 (GRCm39) probably benign Het
Dhx9 A T 1: 153,340,376 (GRCm39) D707E probably benign Het
Dnmt1 A G 9: 20,852,669 (GRCm39) S28P probably benign Het
Dock5 A T 14: 67,994,667 (GRCm39) probably benign Het
Dpp6 T C 5: 27,928,365 (GRCm39) probably benign Het
Egln1 A G 8: 125,640,754 (GRCm39) probably null Het
Esr1 T A 10: 4,733,872 (GRCm39) M224K probably damaging Het
Flt1 A G 5: 147,615,109 (GRCm39) I279T possibly damaging Het
Fzd6 T C 15: 38,897,285 (GRCm39) I478T probably benign Het
Glb1l3 A G 9: 26,738,055 (GRCm39) V368A probably benign Het
Gltpd2 T C 11: 70,410,637 (GRCm39) F5S probably damaging Het
Helz G A 11: 107,577,264 (GRCm39) E1872K unknown Het
Irak3 A G 10: 120,018,429 (GRCm39) probably null Het
Itsn2 A T 12: 4,747,216 (GRCm39) I1206F probably damaging Het
Lingo3 A T 10: 80,670,988 (GRCm39) V314E probably benign Het
Lrrc8a C T 2: 30,145,698 (GRCm39) R171W probably damaging Het
Lsg1 T C 16: 30,390,024 (GRCm39) T364A probably benign Het
Mks1 T C 11: 87,753,478 (GRCm39) probably null Het
Mov10l1 T A 15: 88,872,729 (GRCm39) F89Y probably damaging Het
Myo1b A C 1: 51,840,337 (GRCm39) probably null Het
Myo1h T C 5: 114,497,000 (GRCm39) Y819H probably damaging Het
Nedd1 G A 10: 92,525,519 (GRCm39) Q597* probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or5an9 A G 19: 12,187,046 (GRCm39) T39A probably benign Het
Pbrm1 T C 14: 30,789,761 (GRCm39) S792P probably damaging Het
Pccb T C 9: 100,866,449 (GRCm39) N457S probably benign Het
Plekho2 T C 9: 65,465,902 (GRCm39) E162G possibly damaging Het
Pou1f1 A T 16: 65,320,430 (GRCm39) T40S probably benign Het
Pwwp2b T C 7: 138,836,059 (GRCm39) V500A probably damaging Het
Pygo1 C T 9: 72,852,020 (GRCm39) A69V probably damaging Het
Slc18a3 A C 14: 32,185,772 (GRCm39) Y204D probably damaging Het
Stab2 A G 10: 86,707,785 (GRCm39) V261A possibly damaging Het
Tacc2 A T 7: 130,330,671 (GRCm39) K208N probably damaging Het
Tbc1d4 T C 14: 101,738,536 (GRCm39) D403G probably damaging Het
Tbc1d9 T A 8: 83,995,696 (GRCm39) probably benign Het
Tdrkh T C 3: 94,336,657 (GRCm39) probably benign Het
Tktl2 T A 8: 66,964,982 (GRCm39) L180H probably damaging Het
Tm4sf19 T A 16: 32,224,733 (GRCm39) L27Q probably damaging Het
Tmtc2 A G 10: 105,249,157 (GRCm39) V192A probably damaging Het
Ttn C A 2: 76,543,328 (GRCm39) M33219I probably damaging Het
Vmn1r52 A T 6: 90,156,295 (GRCm39) M200L possibly damaging Het
Vmn2r114 T A 17: 23,510,263 (GRCm39) H739L probably benign Het
Wdr20rt T C 12: 65,272,692 (GRCm39) F52L probably benign Het
Zbtb38 C T 9: 96,569,227 (GRCm39) G619D probably benign Het
Zfyve19 T C 2: 119,041,999 (GRCm39) V156A probably benign 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
R0358:Ankle1 UTSW 8 71,860,189 (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
Posted On 2015-12-18