Incidental Mutation 'IGL01382:Tmpo'
ID78889
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmpo
Ensembl Gene ENSMUSG00000019961
Gene Namethymopoietin
Synonymslamina-associated polypeptide 2, TP, LAP2, 5630400D24Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01382
Quality Score
Status
Chromosome10
Chromosomal Location91147571-91181315 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 91166050 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 99 (D99G)
Ref Sequence ENSEMBL: ENSMUSP00000020123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020123] [ENSMUST00000072239] [ENSMUST00000092219] [ENSMUST00000099355] [ENSMUST00000105293]
PDB Structure
THE DIMERIZATION DOMAIN OF LAP2ALPHA [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000020123
AA Change: D99G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020123
Gene: ENSMUSG00000019961
AA Change: D99G

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
low complexity region 189 197 N/A INTRINSIC
low complexity region 410 422 N/A INTRINSIC
Pfam:LAP2alpha 459 692 6.4e-155 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000072239
AA Change: D99G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072092
Gene: ENSMUSG00000019961
AA Change: D99G

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
low complexity region 226 240 N/A INTRINSIC
transmembrane domain 410 429 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000092219
AA Change: D99G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000089864
Gene: ENSMUSG00000019961
AA Change: D99G

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
transmembrane domain 370 389 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099355
AA Change: D99G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096956
Gene: ENSMUSG00000019961
AA Change: D99G

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
transmembrane domain 338 357 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105293
AA Change: D99G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000100930
Gene: ENSMUSG00000019961
AA Change: D99G

DomainStartEndE-ValueType
Thymopoietin 2 50 8.83e-30 SMART
low complexity region 78 91 N/A INTRINSIC
LEM 109 152 5.83e-21 SMART
transmembrane domain 301 320 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217449
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene resides in the nucleus and may play a role in the assembly of the nuclear lamina, and thus help maintain the structural organization of the nuclear envelope. It may function as a receptor for the attachment of lamin filaments to the inner nuclear membrane. Mutations in this gene are associated with dilated cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous null for a protein isoform generated from this locus have hyperproliferation of epidermal and erythroid progenitor cells that leads to thickened paws and increased crypt lengths in the colon. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5z1 G T 5: 142,472,251 R393L probably benign Het
Arhgap21 G T 2: 20,855,700 P1128T probably damaging Het
Atp12a T G 14: 56,379,955 C567W probably damaging Het
Bcat2 C A 7: 45,588,260 R312S probably damaging Het
Cacna1g T A 11: 94,465,858 T151S probably damaging Het
Chid1 G A 7: 141,530,253 T53M probably damaging Het
Dis3l2 A G 1: 86,857,203 D272G probably benign Het
Ephx4 A G 5: 107,429,719 E303G probably damaging Het
Fam189b T C 3: 89,188,426 S596P probably damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Gm9843 A T 16: 76,403,572 noncoding transcript Het
Gnb1l T C 16: 18,544,200 F11S probably damaging Het
Ipmk C T 10: 71,376,766 T186M probably damaging Het
Jph1 T C 1: 17,016,156 T381A probably damaging Het
Kbtbd8 T A 6: 95,122,230 I163K probably damaging Het
Kif18a T A 2: 109,296,766 Y348* probably null Het
Lrrc37a T A 11: 103,498,755 D1948V probably damaging Het
Mc4r A G 18: 66,859,793 I83T probably damaging Het
Myh8 A T 11: 67,301,973 E1530V probably damaging Het
Naip6 C T 13: 100,299,856 E720K possibly damaging Het
Ncor2 T A 5: 125,055,773 Q50L probably damaging Het
Olfr1411 A G 1: 92,597,200 Y227C possibly damaging Het
Olfr495 G A 7: 108,395,245 V42M probably benign Het
Plxnd1 A T 6: 115,960,527 M1575K probably damaging Het
Ptprg T G 14: 12,237,797 M643R probably benign Het
Reck T A 4: 43,940,662 C824S probably damaging Het
Rpgrip1 C T 14: 52,145,477 T689I possibly damaging Het
Ruvbl2 A T 7: 45,422,737 S358T probably benign Het
Sec14l3 G T 11: 4,068,104 C128F probably damaging Het
Serpinf2 C T 11: 75,438,037 probably benign Het
Sez6l C T 5: 112,425,621 V842I probably benign Het
Tm6sf2 A G 8: 70,078,368 Y257C probably damaging Het
Tulp3 A C 6: 128,325,070 N329K probably damaging Het
Vmn1r7 T A 6: 57,024,723 D184V probably damaging Het
Vmn2r24 A G 6: 123,786,979 T272A possibly damaging Het
Vmn2r93 T A 17: 18,313,316 L494* probably null Het
Wdr18 T C 10: 79,965,272 L173P probably damaging Het
Zfp663 T A 2: 165,359,015 Y33F probably damaging Het
Zmiz2 T A 11: 6,403,781 probably null Het
Other mutations in Tmpo
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00768:Tmpo APN 10 91164206 splice site probably benign
IGL00791:Tmpo APN 10 91162558 missense possibly damaging 0.94
IGL00919:Tmpo APN 10 91162800 missense probably damaging 0.99
IGL01806:Tmpo APN 10 91163242 missense probably benign 0.01
IGL01813:Tmpo APN 10 91163242 missense probably benign 0.01
IGL01838:Tmpo APN 10 91163242 missense probably benign 0.01
IGL01952:Tmpo APN 10 91163242 missense probably benign 0.01
IGL02110:Tmpo APN 10 91162865 missense probably damaging 1.00
IGL02122:Tmpo APN 10 91164136 missense possibly damaging 0.77
IGL02191:Tmpo APN 10 91161879 missense probably benign 0.00
IGL02338:Tmpo APN 10 91163242 missense probably benign 0.01
PIT4366001:Tmpo UTSW 10 91163310 missense probably damaging 1.00
PIT4544001:Tmpo UTSW 10 91162114 missense probably benign
R0133:Tmpo UTSW 10 91164038 splice site probably benign
R0450:Tmpo UTSW 10 91163096 missense probably benign 0.45
R0469:Tmpo UTSW 10 91163096 missense probably benign 0.45
R0836:Tmpo UTSW 10 91161953 nonsense probably null
R2405:Tmpo UTSW 10 91163354 missense probably damaging 1.00
R2919:Tmpo UTSW 10 91152686 missense probably benign 0.23
R4059:Tmpo UTSW 10 91162261 missense probably benign 0.00
R4296:Tmpo UTSW 10 91162956 missense possibly damaging 0.49
R4741:Tmpo UTSW 10 91162644 missense probably benign 0.18
R4881:Tmpo UTSW 10 91162641 missense possibly damaging 0.93
R4915:Tmpo UTSW 10 91149549 missense probably damaging 1.00
R4917:Tmpo UTSW 10 91149549 missense probably damaging 1.00
R4960:Tmpo UTSW 10 91153309 missense probably damaging 1.00
R5002:Tmpo UTSW 10 91164114 missense possibly damaging 0.76
R5301:Tmpo UTSW 10 91149788 intron probably benign
R6167:Tmpo UTSW 10 91162938 missense probably benign
R6190:Tmpo UTSW 10 91164207 splice site probably null
R6979:Tmpo UTSW 10 91152497 intron probably null
Posted On2013-11-05