Incidental Mutation 'R0107:Ankle2'
ID 33316
Institutional Source Beutler Lab
Gene Symbol Ankle2
Ensembl Gene ENSMUSG00000029501
Gene Name ankyrin repeat and LEM domain containing 2
Synonyms 1110001J12Rik, D5Ertd585e
MMRRC Submission 038393-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R0107 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 5
Chromosomal Location 110378870-110404517 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110400893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 743 (V743A)
Ref Sequence ENSEMBL: ENSMUSP00000143044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031474] [ENSMUST00000086674] [ENSMUST00000197188]
AlphaFold Q6P1H6
Predicted Effect probably benign
Transcript: ENSMUST00000031474
AA Change: V742A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: V742A

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
Pfam:LEM 74 112 6.6e-12 PFAM
ANK 358 387 7.75e2 SMART
ANK 419 448 3.31e-1 SMART
low complexity region 923 937 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000086674
SMART Domains Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
Pfam:LEM 75 114 5.8e-9 PFAM
ANK 358 387 7.75e2 SMART
ANK 419 448 3.31e-1 SMART
low complexity region 845 859 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196821
Predicted Effect probably benign
Transcript: ENSMUST00000197188
AA Change: V743A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: V743A

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
low complexity region 49 62 N/A INTRINSIC
Pfam:LEM 75 114 6.4e-9 PFAM
ANK 358 387 7.75e2 SMART
ANK 419 448 3.31e-1 SMART
low complexity region 923 937 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency 99% (71/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,737 (GRCm39) L397I possibly damaging Het
Abca1 A G 4: 53,080,834 (GRCm39) V825A probably benign Het
Adamts7 T C 9: 90,062,773 (GRCm39) I409T possibly damaging Het
Adck1 T C 12: 88,413,426 (GRCm39) W253R possibly damaging Het
Afg3l2 A G 18: 67,564,836 (GRCm39) F213L probably damaging Het
Ankrd34c C T 9: 89,611,537 (GRCm39) R268H probably benign Het
Arb2a A G 13: 78,050,933 (GRCm39) D145G probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Ccdc7b T G 8: 129,904,678 (GRCm39) probably benign Het
Cd320 A T 17: 34,067,059 (GRCm39) M169L probably benign Het
Chn1 A G 2: 73,445,028 (GRCm39) Y338H probably damaging Het
Chuk T A 19: 44,085,358 (GRCm39) S263C probably damaging Het
Dennd4b C A 3: 90,180,043 (GRCm39) P663T possibly damaging Het
Dnajc24 T G 2: 105,832,259 (GRCm39) probably benign Het
Fbn2 A G 18: 58,189,275 (GRCm39) V1617A probably benign Het
Fermt2 T C 14: 45,702,279 (GRCm39) N502D probably damaging Het
Frrs1 A T 3: 116,690,365 (GRCm39) I3F probably damaging Het
Fut1 C A 7: 45,268,270 (GRCm39) Q20K possibly damaging Het
Gbf1 T C 19: 46,273,267 (GRCm39) V1709A probably benign Het
Gfra3 G T 18: 34,844,359 (GRCm39) H60Q probably benign Het
Gm10750 T A 2: 148,857,973 (GRCm39) M93L unknown Het
Hmcn1 T A 1: 150,462,766 (GRCm39) I5124L probably benign Het
Hps3 A C 3: 20,084,960 (GRCm39) L76R probably damaging Het
Ifrd1 T A 12: 40,264,080 (GRCm39) Q105L probably damaging Het
Irs2 A T 8: 11,054,691 (GRCm39) V1247E probably damaging Het
Itgal T C 7: 126,927,731 (GRCm39) probably benign Het
Ivns1abp A T 1: 151,237,321 (GRCm39) N495I probably damaging Het
Kank1 T A 19: 25,407,730 (GRCm39) probably benign Het
Mroh8 T C 2: 157,067,388 (GRCm39) Q657R probably benign Het
Mthfd1l T C 10: 3,991,838 (GRCm39) Y597H probably benign Het
Myom1 G A 17: 71,384,360 (GRCm39) V692I probably damaging Het
Or13a17 A T 7: 140,271,258 (GRCm39) M147L probably benign Het
Or1j18 T G 2: 36,624,730 (GRCm39) Y132* probably null Het
Or7g20 A G 9: 18,946,629 (GRCm39) D70G probably damaging Het
Palmd A T 3: 116,717,725 (GRCm39) H257Q probably damaging Het
Pcnx2 A T 8: 126,480,325 (GRCm39) V1994D probably benign Het
Phkb G A 8: 86,743,560 (GRCm39) G553S probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Ptprn A T 1: 75,232,356 (GRCm39) L453M probably damaging Het
Ptprz1 T A 6: 23,000,569 (GRCm39) D886E probably damaging Het
Rcn1 T A 2: 105,225,126 (GRCm39) I110F possibly damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Slc6a19 A G 13: 73,832,176 (GRCm39) Y467H possibly damaging Het
Slc9c1 T A 16: 45,395,783 (GRCm39) D611E probably benign Het
Slitrk6 T C 14: 110,989,395 (GRCm39) E104G possibly damaging Het
Spag17 A T 3: 99,958,103 (GRCm39) K920N possibly damaging Het
St3gal5 A G 6: 72,119,133 (GRCm39) S82G probably benign Het
Tlk1 T C 2: 70,544,333 (GRCm39) *767W probably null Het
Tln2 A G 9: 67,277,988 (GRCm39) V342A probably damaging Het
Tmem104 T A 11: 115,093,006 (GRCm39) M132K probably damaging Het
Tmem184c A G 8: 78,323,702 (GRCm39) S387P possibly damaging Het
Tmtc1 A G 6: 148,327,411 (GRCm39) V34A possibly damaging Het
Trim46 A G 3: 89,143,640 (GRCm39) F596S probably damaging Het
Unc79 T A 12: 103,100,784 (GRCm39) D1870E possibly damaging Het
Utp20 T C 10: 88,614,253 (GRCm39) T1234A probably benign Het
Vmn1r31 T A 6: 58,449,728 (GRCm39) T46S probably benign Het
Vps13a A T 19: 16,669,188 (GRCm39) L1341Q probably benign Het
Wdr72 A T 9: 74,117,715 (GRCm39) D821V probably damaging Het
Zfhx4 T C 3: 5,464,042 (GRCm39) L1400P probably damaging Het
Zfp217 T A 2: 169,956,794 (GRCm39) K735* probably null Het
Zfp235 A G 7: 23,836,541 (GRCm39) Q29R probably damaging Het
Zfp628 A G 7: 4,923,167 (GRCm39) Y463C probably damaging Het
Zkscan4 A G 13: 21,668,751 (GRCm39) T401A possibly damaging Het
Other mutations in Ankle2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Ankle2 APN 5 110,382,218 (GRCm39) missense probably benign 0.01
IGL03030:Ankle2 APN 5 110,399,476 (GRCm39) missense possibly damaging 0.93
R0219:Ankle2 UTSW 5 110,399,511 (GRCm39) nonsense probably null
R0288:Ankle2 UTSW 5 110,384,256 (GRCm39) missense probably damaging 0.96
R0511:Ankle2 UTSW 5 110,389,925 (GRCm39) splice site probably benign
R1343:Ankle2 UTSW 5 110,385,832 (GRCm39) missense probably damaging 1.00
R2079:Ankle2 UTSW 5 110,392,371 (GRCm39) missense probably damaging 1.00
R3954:Ankle2 UTSW 5 110,399,541 (GRCm39) missense probably benign 0.00
R4161:Ankle2 UTSW 5 110,382,234 (GRCm39) missense probably benign 0.06
R4196:Ankle2 UTSW 5 110,392,409 (GRCm39) missense possibly damaging 0.81
R4613:Ankle2 UTSW 5 110,379,245 (GRCm39) missense probably benign
R4830:Ankle2 UTSW 5 110,389,879 (GRCm39) missense probably damaging 1.00
R4870:Ankle2 UTSW 5 110,399,344 (GRCm39) splice site probably null
R4946:Ankle2 UTSW 5 110,401,704 (GRCm39) missense probably benign 0.06
R5537:Ankle2 UTSW 5 110,397,361 (GRCm39) missense probably damaging 1.00
R5798:Ankle2 UTSW 5 110,399,401 (GRCm39) missense probably damaging 1.00
R5809:Ankle2 UTSW 5 110,385,856 (GRCm39) missense probably damaging 0.99
R6434:Ankle2 UTSW 5 110,401,759 (GRCm39) missense probably damaging 1.00
R6825:Ankle2 UTSW 5 110,398,635 (GRCm39) missense probably null 0.78
R7264:Ankle2 UTSW 5 110,385,689 (GRCm39) missense probably damaging 1.00
R7296:Ankle2 UTSW 5 110,385,590 (GRCm39) missense probably damaging 1.00
R7318:Ankle2 UTSW 5 110,385,632 (GRCm39) missense probably benign 0.19
R7429:Ankle2 UTSW 5 110,382,384 (GRCm39) missense possibly damaging 0.86
R8035:Ankle2 UTSW 5 110,402,318 (GRCm39) missense probably damaging 1.00
R8079:Ankle2 UTSW 5 110,379,182 (GRCm39) missense probably damaging 1.00
R8257:Ankle2 UTSW 5 110,401,781 (GRCm39) critical splice donor site probably null
R8348:Ankle2 UTSW 5 110,389,909 (GRCm39) missense possibly damaging 0.68
R8448:Ankle2 UTSW 5 110,389,909 (GRCm39) missense possibly damaging 0.68
R8478:Ankle2 UTSW 5 110,400,818 (GRCm39) missense possibly damaging 0.92
R8957:Ankle2 UTSW 5 110,379,121 (GRCm39) missense possibly damaging 0.95
R9186:Ankle2 UTSW 5 110,400,610 (GRCm39) missense possibly damaging 0.94
R9187:Ankle2 UTSW 5 110,400,610 (GRCm39) missense possibly damaging 0.94
R9188:Ankle2 UTSW 5 110,400,610 (GRCm39) missense possibly damaging 0.94
R9189:Ankle2 UTSW 5 110,400,610 (GRCm39) missense possibly damaging 0.94
R9617:Ankle2 UTSW 5 110,399,409 (GRCm39) missense probably damaging 1.00
R9651:Ankle2 UTSW 5 110,385,661 (GRCm39) missense probably benign 0.04
X0026:Ankle2 UTSW 5 110,400,986 (GRCm39) missense probably benign 0.01
X0065:Ankle2 UTSW 5 110,384,223 (GRCm39) missense probably damaging 0.99
Z1176:Ankle2 UTSW 5 110,382,365 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- AGTTCCAAGTCAGAGTCAGCCCAC -3'
(R):5'- GCCCAAAGACATTTCAGCCATTGC -3'

Sequencing Primer
(F):5'- GTTCCAAACCTCTAAAAGTGGTTCC -3'
(R):5'- AGCCATTGCCTCTGACAC -3'
Posted On 2013-05-09