Incidental Mutation 'R6434:Ankle2'
ID 518690
Institutional Source Beutler Lab
Gene Symbol Ankle2
Ensembl Gene ENSMUSG00000029501
Gene Name ankyrin repeat and LEM domain containing 2
Synonyms 1110001J12Rik, D5Ertd585e
MMRRC Submission 044572-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R6434 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 110378870-110404517 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110401759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 807 (Y807C)
Ref Sequence ENSEMBL: ENSMUSP00000083878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031474] [ENSMUST00000086674] [ENSMUST00000197188]
AlphaFold Q6P1H6
Predicted Effect possibly damaging
Transcript: ENSMUST00000031474
AA Change: Y884C

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: Y884C

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 damaging
Transcript: ENSMUST00000086674
AA Change: Y807C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501
AA Change: Y807C

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 possibly damaging
Transcript: ENSMUST00000197188
AA Change: Y885C

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: Y885C

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 0.4785 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alcam A C 16: 52,109,190 (GRCm39) probably null Het
Arhgef26 A C 3: 62,336,335 (GRCm39) M625L probably damaging Het
Aspdh G A 7: 44,116,474 (GRCm39) A86T probably damaging Het
Atl1 G T 12: 70,006,199 (GRCm39) E502* probably null Het
Atp6v1c1 T C 15: 38,677,790 (GRCm39) F105S probably damaging Het
Auh C A 13: 53,083,446 (GRCm39) G17C probably benign Het
Ccdc81 T C 7: 89,525,352 (GRCm39) Y474C probably damaging Het
Ccdc82 T C 9: 13,251,659 (GRCm39) probably benign Het
Ccdc96 T G 5: 36,643,707 (GRCm39) V571G probably damaging Het
Col6a5 C A 9: 105,814,544 (GRCm39) E489D unknown Het
Dchs2 T A 3: 83,176,577 (GRCm39) I845N probably damaging Het
Dnajc11 T C 4: 152,063,751 (GRCm39) V449A probably damaging Het
Ect2 A T 3: 27,193,268 (GRCm39) Y269* probably null Het
Egfr T C 11: 16,819,294 (GRCm39) Y275H probably benign Het
Fan1 T A 7: 64,004,129 (GRCm39) D779V probably damaging Het
Fancm T C 12: 65,123,942 (GRCm39) V200A probably damaging Het
Frem1 A G 4: 82,884,253 (GRCm39) I1214T probably benign Het
Gm3415 T A 5: 146,494,752 (GRCm39) F138L probably benign Het
Gtse1 C A 15: 85,759,370 (GRCm39) T626K probably benign Het
Herc1 T A 9: 66,393,464 (GRCm39) H4114Q probably damaging Het
Ifi44 T A 3: 151,454,826 (GRCm39) N133I probably benign Het
Ilf3 A G 9: 21,314,447 (GRCm39) probably benign Het
Inpp4a A G 1: 37,437,919 (GRCm39) T593A probably damaging Het
Iqgap2 A T 13: 95,819,441 (GRCm39) W634R possibly damaging Het
Kcnh4 T A 11: 100,641,105 (GRCm39) N448I probably damaging Het
Klhl33 G A 14: 51,130,564 (GRCm39) A310V probably damaging Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lrig2 T C 3: 104,398,863 (GRCm39) K222E possibly damaging Het
Manba G A 3: 135,217,734 (GRCm39) probably null Het
Mga A T 2: 119,754,419 (GRCm39) Q976L probably damaging Het
Mtmr4 A G 11: 87,504,309 (GRCm39) D1086G probably damaging Het
Muc20 A G 16: 32,615,176 (GRCm39) V67A probably benign Het
Myh3 T A 11: 66,973,193 (GRCm39) L97Q probably damaging Het
Nars1 T C 18: 64,640,872 (GRCm39) T195A probably benign Het
Npat A T 9: 53,474,739 (GRCm39) I844L possibly damaging Het
Nrxn3 T C 12: 88,762,285 (GRCm39) F111L probably benign Het
Obp2b T C 2: 25,628,599 (GRCm39) Y118H probably damaging Het
Or5w1 T A 2: 87,486,558 (GRCm39) K236* probably null Het
Or7e170 A T 9: 19,795,141 (GRCm39) Y153* probably null Het
Patj A G 4: 98,379,866 (GRCm39) D215G probably damaging Het
Pex1 T A 5: 3,680,196 (GRCm39) Y979* probably null Het
Septin3 G A 15: 82,163,804 (GRCm39) V54I possibly damaging Het
Shc3 A G 13: 51,603,326 (GRCm39) Y260H probably damaging Het
Simc1 A G 13: 54,674,477 (GRCm39) T942A probably benign Het
Slco1c1 T C 6: 141,493,576 (GRCm39) S371P probably damaging Het
Snrnp200 T A 2: 127,080,574 (GRCm39) I2029N probably damaging Het
Syne1 A G 10: 5,268,422 (GRCm39) V2089A probably benign Het
Syne2 T C 12: 76,088,230 (GRCm39) S5016P probably damaging Het
Tril G C 6: 53,795,493 (GRCm39) D576E probably damaging Het
Tubb2b C T 13: 34,311,561 (GRCm39) A411T probably damaging Het
Ubr4 T C 4: 139,156,949 (GRCm39) Y2325H probably damaging Het
Utp20 A T 10: 88,608,395 (GRCm39) C1547* probably null Het
Utrn A T 10: 12,401,171 (GRCm39) W98R probably damaging Het
Vps35 C T 8: 86,000,124 (GRCm39) D501N possibly damaging Het
Wdr48 T C 9: 119,745,879 (GRCm39) S421P possibly damaging Het
Yju2b A G 8: 84,989,630 (GRCm39) I63T probably damaging Het
Zfp719 C A 7: 43,240,412 (GRCm39) H667N probably 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
R0107:Ankle2 UTSW 5 110,400,893 (GRCm39) missense probably benign
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
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'- ATATGCTCAGCCCAGATTGG -3'
(R):5'- GACATGTATCCGCCTTTGTGG -3'

Sequencing Primer
(F):5'- ACTATAACTTATAAGCCTTTCCCCCG -3'
(R):5'- TGTGGCCACATCTACATGGAC -3'
Posted On 2018-05-24