Incidental Mutation 'R4830:Ankle2'
ID372733
Institutional Source Beutler Lab
Gene Symbol Ankle2
Ensembl Gene ENSMUSG00000029501
Gene Nameankyrin repeat and LEM domain containing 2
Synonyms1110001J12Rik, D5Ertd585e
MMRRC Submission 042446-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.941) question?
Stock #R4830 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location110231004-110256651 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 110242013 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamine at position 446 (K446Q)
Ref Sequence ENSEMBL: ENSMUSP00000031474 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031474] [ENSMUST00000086674] [ENSMUST00000197188]
Predicted Effect probably damaging
Transcript: ENSMUST00000031474
AA Change: K446Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031474
Gene: ENSMUSG00000029501
AA Change: K446Q

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: K447Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000083878
Gene: ENSMUSG00000029501
AA Change: K447Q

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: ENSMUST00000196865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197101
Predicted Effect probably damaging
Transcript: ENSMUST00000197188
AA Change: K447Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143044
Gene: ENSMUSG00000029501
AA Change: K447Q

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 0.5809 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (71/73)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 C A 3: 121,760,284 G643V probably damaging Het
Adamtsl1 A G 4: 86,356,382 E1225G probably damaging Het
Agbl5 G A 5: 30,890,715 R111H probably damaging Het
Boc A C 16: 44,490,157 M800R probably damaging Het
Ccnt1 A T 15: 98,543,451 N645K probably damaging Het
Cd93 G A 2: 148,443,379 Q16* probably null Het
Cpsf4l G T 11: 113,709,502 probably benign Het
Cuzd1 T A 7: 131,318,054 D111V probably damaging Het
Dab2 T C 15: 6,427,527 C232R probably benign Het
Dmpk A T 7: 19,087,528 Y237F probably damaging Het
Dnah6 T A 6: 73,044,762 T3526S possibly damaging Het
Dock2 T C 11: 34,273,767 probably null Het
Dsp G A 13: 38,192,864 V1542I probably benign Het
Dst T A 1: 34,198,505 probably null Het
Esd T C 14: 74,741,160 L54S probably damaging Het
Exd1 C T 2: 119,520,326 A485T probably benign Het
Gm3604 A T 13: 62,369,043 N500K probably damaging Het
Gm7102 C T 19: 61,175,926 G24R unknown Het
Grhl2 T A 15: 37,335,659 probably null Het
Gsto1 C T 19: 47,864,391 R222C probably benign Het
H2afy2 C T 10: 61,739,353 D355N possibly damaging Het
Inpp4a T A 1: 37,371,780 M343K probably damaging Het
Itpripl2 T C 7: 118,491,057 Q93R probably benign Het
Jakmip2 G A 18: 43,567,143 T450I probably benign Het
Kdm6b A T 11: 69,403,794 I1186N unknown Het
Kif1a T C 1: 93,021,209 probably null Het
Klhl20 T C 1: 161,098,376 K434R probably benign Het
Lemd3 T C 10: 120,931,948 D697G probably damaging Het
Lipo1 A G 19: 33,776,587 S383P probably damaging Het
Ltn1 C A 16: 87,379,694 K1741N probably damaging Het
Lvrn A T 18: 46,905,351 T991S probably damaging Het
Mast3 C A 8: 70,788,915 R151L possibly damaging Het
Muc4 G C 16: 32,753,919 R1265P probably benign Het
Myoz1 T C 14: 20,655,309 K14E probably damaging Het
Neb G T 2: 52,192,520 Q5450K probably damaging Het
Nedd1 T A 10: 92,686,258 N639I probably damaging Het
Nlrp4e A T 7: 23,336,740 N673Y probably benign Het
Nop53 C T 7: 15,942,204 R190Q probably damaging Het
Notch4 T C 17: 34,570,118 Y468H probably damaging Het
Obscn T C 11: 59,067,607 T3507A probably damaging Het
Olfr724 T C 14: 49,960,224 N283D probably damaging Het
Opn5 T C 17: 42,611,296 H5R probably benign Het
Patl1 T C 19: 11,925,151 M349T probably benign Het
Phactr3 A G 2: 178,284,018 N362S probably damaging Het
Pirb C T 7: 3,717,603 G299S probably benign Het
Rapgef5 G A 12: 117,756,074 R579Q probably damaging Het
Rgl1 T C 1: 152,554,330 D234G probably benign Het
Serpinb3a C T 1: 107,048,586 E122K probably benign Het
Slc22a15 T C 3: 101,875,603 probably benign Het
Slc25a12 A T 2: 71,296,805 V344E probably damaging Het
Slc43a2 T C 11: 75,543,293 L99P probably damaging Het
Smim27 G T 4: 40,269,719 probably null Het
Smtn A G 11: 3,520,736 probably benign Het
Szt2 A T 4: 118,369,248 Y3001N unknown Het
Tgfbr3 G T 5: 107,109,719 P825T probably damaging Het
Tnpo3 T C 6: 29,568,938 T472A probably benign Het
Trf T A 9: 103,227,915 D66V probably damaging Het
Vmn1r124 A G 7: 21,259,699 C307R probably damaging Het
Vps13b T A 15: 35,452,224 F656Y possibly damaging Het
Zic1 G T 9: 91,362,531 S358R probably damaging Het
Other mutations in Ankle2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01312:Ankle2 APN 5 110234352 missense probably benign 0.01
IGL03030:Ankle2 APN 5 110251610 missense possibly damaging 0.93
R0107:Ankle2 UTSW 5 110253027 missense probably benign
R0219:Ankle2 UTSW 5 110251645 nonsense probably null
R0288:Ankle2 UTSW 5 110236390 missense probably damaging 0.96
R0511:Ankle2 UTSW 5 110242059 splice site probably benign
R1343:Ankle2 UTSW 5 110237966 missense probably damaging 1.00
R2079:Ankle2 UTSW 5 110244505 missense probably damaging 1.00
R3954:Ankle2 UTSW 5 110251675 missense probably benign 0.00
R4161:Ankle2 UTSW 5 110234368 missense probably benign 0.06
R4196:Ankle2 UTSW 5 110244543 missense possibly damaging 0.81
R4613:Ankle2 UTSW 5 110231379 missense probably benign
R4870:Ankle2 UTSW 5 110251478 intron probably null
R4946:Ankle2 UTSW 5 110253838 missense probably benign 0.06
R5537:Ankle2 UTSW 5 110249495 missense probably damaging 1.00
R5798:Ankle2 UTSW 5 110251535 missense probably damaging 1.00
R5809:Ankle2 UTSW 5 110237990 missense probably damaging 0.99
R6434:Ankle2 UTSW 5 110253893 missense probably damaging 1.00
R6825:Ankle2 UTSW 5 110250769 missense probably null 0.78
R7264:Ankle2 UTSW 5 110237823 missense probably damaging 1.00
R7296:Ankle2 UTSW 5 110237724 missense probably damaging 1.00
R7318:Ankle2 UTSW 5 110237766 missense probably benign 0.19
R7429:Ankle2 UTSW 5 110234518 missense possibly damaging 0.86
R8035:Ankle2 UTSW 5 110254452 missense probably damaging 1.00
R8079:Ankle2 UTSW 5 110231316 missense probably damaging 1.00
X0026:Ankle2 UTSW 5 110253120 missense probably benign 0.01
X0065:Ankle2 UTSW 5 110236357 missense probably damaging 0.99
Z1176:Ankle2 UTSW 5 110234499 missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TTGGGAAGGCTGAGAACCAC -3'
(R):5'- AGCAAGACTGGGTTAGCTCC -3'

Sequencing Primer
(F):5'- GGCTGAGAACCACTGTTTTAAG -3'
(R):5'- GCAAGACTGGGTTAGCTCCTTCTC -3'
Posted On2016-03-01