Incidental Mutation 'IGL01348:Tpx2'
ID 75143
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tpx2
Ensembl Gene ENSMUSG00000027469
Gene Name TPX2, microtubule-associated
Synonyms 2610005B21Rik, p100, DIL2, REPP86
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01348
Quality Score
Status
Chromosome 2
Chromosomal Location 152689884-152737241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152735511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 713 (K713R)
Ref Sequence ENSEMBL: ENSMUSP00000136457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028969] [ENSMUST00000109816] [ENSMUST00000164120] [ENSMUST00000178997]
AlphaFold A2APB8
Predicted Effect probably damaging
Transcript: ENSMUST00000028969
AA Change: K713R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028969
Gene: ENSMUSG00000027469
AA Change: K713R

DomainStartEndE-ValueType
Pfam:Aurora-A_bind 1 68 7.4e-39 PFAM
coiled coil region 213 242 N/A INTRINSIC
Pfam:TPX2_importin 360 541 1e-62 PFAM
low complexity region 608 619 N/A INTRINSIC
Pfam:TPX2 661 717 6.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109816
AA Change: K713R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105441
Gene: ENSMUSG00000027469
AA Change: K713R

DomainStartEndE-ValueType
Pfam:Aurora-A_bind 1 68 7.4e-39 PFAM
coiled coil region 213 242 N/A INTRINSIC
Pfam:TPX2_importin 360 541 1e-62 PFAM
low complexity region 608 619 N/A INTRINSIC
Pfam:TPX2 661 717 6.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164120
AA Change: K713R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128888
Gene: ENSMUSG00000027469
AA Change: K713R

DomainStartEndE-ValueType
Pfam:Aurora-A_bind 1 68 5.2e-40 PFAM
coiled coil region 213 242 N/A INTRINSIC
Pfam:TPX2_importin 362 489 2.7e-35 PFAM
low complexity region 608 619 N/A INTRINSIC
Pfam:TPX2 661 717 7.5e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178997
AA Change: K713R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136457
Gene: ENSMUSG00000027469
AA Change: K713R

DomainStartEndE-ValueType
Pfam:Aurora-A_bind 1 68 5.2e-40 PFAM
coiled coil region 213 242 N/A INTRINSIC
Pfam:TPX2_importin 362 489 2.7e-35 PFAM
low complexity region 608 619 N/A INTRINSIC
Pfam:TPX2 661 717 7.5e-15 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic arrest at the morula stage, embryonic lethality and tetraploidy of cultured E1.5 embryos. Mice heterozygous for the gene trap allele exhibit aneuploidy and increased tumor incidence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,213 (GRCm39) E140G probably null Het
Adgrl3 A G 5: 81,874,570 (GRCm39) T956A probably damaging Het
Aff4 G A 11: 53,293,327 (GRCm39) S772N probably benign Het
Ark2n A G 18: 77,761,613 (GRCm39) I233T possibly damaging Het
Atad5 A G 11: 79,986,390 (GRCm39) I492M probably benign Het
Atf4 T C 15: 80,140,728 (GRCm39) probably benign Het
Atrip A G 9: 108,898,363 (GRCm39) S219P probably damaging Het
Axl G A 7: 25,462,734 (GRCm39) R656W probably damaging Het
B3gnt3 T A 8: 72,145,648 (GRCm39) Q240L possibly damaging Het
Baz2b A G 2: 59,764,031 (GRCm39) V915A possibly damaging Het
Cacna1s T C 1: 136,002,890 (GRCm39) V329A possibly damaging Het
Celf3 C A 3: 94,395,535 (GRCm39) Q388K possibly damaging Het
Ciita T C 16: 10,328,591 (GRCm39) S292P probably damaging Het
Cip2a A G 16: 48,833,551 (GRCm39) I551V probably damaging Het
Clec18a G A 8: 111,798,245 (GRCm39) A423V probably damaging Het
Clnk T C 5: 38,870,550 (GRCm39) D336G probably damaging Het
Csmd1 T G 8: 15,960,596 (GRCm39) H3273P probably damaging Het
Cyp3a11 A T 5: 145,805,817 (GRCm39) V157E possibly damaging Het
Dcp1b T C 6: 119,160,679 (GRCm39) I87T probably damaging Het
Ell3 A G 2: 121,272,277 (GRCm39) S66P probably damaging Het
Ercc4 T C 16: 12,950,798 (GRCm39) F631L probably damaging Het
Etl4 T A 2: 20,811,784 (GRCm39) V1289D probably damaging Het
Gm16372 T C 12: 24,543,606 (GRCm39) probably benign Het
Gm4553 C T 7: 141,718,909 (GRCm39) C173Y unknown Het
Gvin-ps5 T A 7: 105,929,042 (GRCm39) H285L unknown Het
Gykl1 A T 18: 52,827,808 (GRCm39) I339F possibly damaging Het
H60b A C 10: 22,162,078 (GRCm39) N101T possibly damaging Het
Inpp4a C T 1: 37,427,986 (GRCm39) T407I probably damaging Het
Itga11 A G 9: 62,651,861 (GRCm39) N331S possibly damaging Het
Kbtbd6 T A 14: 79,690,783 (GRCm39) C430S probably damaging Het
Mfsd4a T C 1: 131,995,564 (GRCm39) S1G probably null Het
Mybpc2 C A 7: 44,165,352 (GRCm39) M372I probably benign Het
Myh10 A T 11: 68,702,629 (GRCm39) T1768S probably benign Het
Myh8 A G 11: 67,188,606 (GRCm39) K1063E probably damaging Het
Nat8f5 A T 6: 85,794,862 (GRCm39) F33I probably damaging Het
Nbeal2 T G 9: 110,458,214 (GRCm39) N2119T probably damaging Het
Nek11 C T 9: 105,270,112 (GRCm39) G37S probably damaging Het
Npc1l1 T C 11: 6,177,974 (GRCm39) N479D probably damaging Het
Nup160 A G 2: 90,530,772 (GRCm39) T477A probably benign Het
Or10al5 A T 17: 38,063,177 (GRCm39) H144L probably benign Het
Or5h18 T A 16: 58,848,157 (GRCm39) T38S probably damaging Het
Pcgf2 A G 11: 97,581,066 (GRCm39) V259A probably benign Het
Pmm1 A G 15: 81,836,219 (GRCm39) V131A probably damaging Het
Polr3a A T 14: 24,511,831 (GRCm39) D908E probably damaging Het
Psg29 A C 7: 16,944,598 (GRCm39) R369S probably benign Het
Ptprq T A 10: 107,547,765 (GRCm39) D211V probably damaging Het
Rdh9 A G 10: 127,612,661 (GRCm39) N103S probably benign Het
Riok3 T C 18: 12,286,020 (GRCm39) probably benign Het
Serpinb1b A T 13: 33,275,398 (GRCm39) Q174H probably benign Het
Sgip1 G T 4: 102,772,353 (GRCm39) probably null Het
Sgpp1 A T 12: 75,781,767 (GRCm39) Y191N probably damaging Het
Slc12a1 A G 2: 125,036,051 (GRCm39) N641S probably damaging Het
Slc5a4b T C 10: 75,906,422 (GRCm39) N399S probably damaging Het
Snx16 C T 3: 10,484,219 (GRCm39) A335T probably damaging Het
Sos2 C T 12: 69,664,866 (GRCm39) R355H probably damaging Het
Szt2 A G 4: 118,250,821 (GRCm39) probably benign Het
Tbcd T A 11: 121,387,902 (GRCm39) D344E probably benign Het
Tek C A 4: 94,747,895 (GRCm39) Q988K probably damaging Het
Tgm6 A G 2: 129,979,299 (GRCm39) D143G probably damaging Het
Trappc9 T A 15: 72,808,858 (GRCm39) E556V possibly damaging Het
Trpm6 A T 19: 18,855,015 (GRCm39) K1891N probably damaging Het
Trpv1 G A 11: 73,129,078 (GRCm39) probably null Het
Usp37 T C 1: 74,500,861 (GRCm39) S567G probably damaging Het
Zfp773 A T 7: 7,138,314 (GRCm39) V107D possibly damaging Het
Other mutations in Tpx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01810:Tpx2 APN 2 152,726,155 (GRCm39) missense probably damaging 1.00
IGL01951:Tpx2 APN 2 152,726,096 (GRCm39) missense probably benign 0.01
IGL02184:Tpx2 APN 2 152,724,240 (GRCm39) nonsense probably null
IGL02422:Tpx2 APN 2 152,715,064 (GRCm39) missense probably benign 0.00
IGL02441:Tpx2 APN 2 152,724,207 (GRCm39) missense possibly damaging 0.88
R7952_Tpx2_601 UTSW 2 152,735,514 (GRCm39) missense probably damaging 1.00
reddened UTSW 2 152,711,644 (GRCm39) missense probably benign 0.00
Shamed UTSW 2 152,715,024 (GRCm39) missense probably benign
R0063:Tpx2 UTSW 2 152,722,043 (GRCm39) missense probably damaging 0.99
R0076:Tpx2 UTSW 2 152,735,603 (GRCm39) missense probably damaging 1.00
R0271:Tpx2 UTSW 2 152,709,287 (GRCm39) splice site probably benign
R0311:Tpx2 UTSW 2 152,732,412 (GRCm39) missense probably damaging 0.98
R0617:Tpx2 UTSW 2 152,715,058 (GRCm39) missense probably benign 0.01
R1871:Tpx2 UTSW 2 152,735,523 (GRCm39) missense probably damaging 1.00
R1882:Tpx2 UTSW 2 152,711,611 (GRCm39) missense probably benign
R1990:Tpx2 UTSW 2 152,732,544 (GRCm39) missense probably benign
R1991:Tpx2 UTSW 2 152,732,544 (GRCm39) missense probably benign
R1992:Tpx2 UTSW 2 152,732,544 (GRCm39) missense probably benign
R4686:Tpx2 UTSW 2 152,731,103 (GRCm39) missense possibly damaging 0.62
R4712:Tpx2 UTSW 2 152,726,958 (GRCm39) missense probably damaging 1.00
R4792:Tpx2 UTSW 2 152,727,016 (GRCm39) missense probably damaging 0.98
R4873:Tpx2 UTSW 2 152,735,535 (GRCm39) missense probably benign 0.00
R4875:Tpx2 UTSW 2 152,735,535 (GRCm39) missense probably benign 0.00
R4991:Tpx2 UTSW 2 152,711,644 (GRCm39) missense probably benign 0.00
R5178:Tpx2 UTSW 2 152,717,469 (GRCm39) missense probably benign 0.01
R5757:Tpx2 UTSW 2 152,727,151 (GRCm39) splice site probably null
R6158:Tpx2 UTSW 2 152,715,024 (GRCm39) missense probably benign
R6225:Tpx2 UTSW 2 152,718,548 (GRCm39) missense probably benign
R6539:Tpx2 UTSW 2 152,718,518 (GRCm39) nonsense probably null
R6633:Tpx2 UTSW 2 152,709,274 (GRCm39) missense probably damaging 1.00
R7358:Tpx2 UTSW 2 152,718,550 (GRCm39) missense probably benign
R7741:Tpx2 UTSW 2 152,709,263 (GRCm39) missense possibly damaging 0.84
R7952:Tpx2 UTSW 2 152,735,514 (GRCm39) missense probably damaging 1.00
R8433:Tpx2 UTSW 2 152,722,056 (GRCm39) missense probably damaging 0.99
R8888:Tpx2 UTSW 2 152,724,255 (GRCm39) missense probably damaging 1.00
R8895:Tpx2 UTSW 2 152,724,255 (GRCm39) missense probably damaging 1.00
R8920:Tpx2 UTSW 2 152,726,214 (GRCm39) missense probably damaging 0.99
R9191:Tpx2 UTSW 2 152,727,124 (GRCm39) missense possibly damaging 0.91
R9267:Tpx2 UTSW 2 152,732,517 (GRCm39) missense probably damaging 0.99
R9486:Tpx2 UTSW 2 152,726,933 (GRCm39) missense probably damaging 1.00
R9610:Tpx2 UTSW 2 152,715,124 (GRCm39) missense probably benign 0.05
R9611:Tpx2 UTSW 2 152,715,124 (GRCm39) missense probably benign 0.05
R9679:Tpx2 UTSW 2 152,711,618 (GRCm39) missense possibly damaging 0.87
R9722:Tpx2 UTSW 2 152,733,476 (GRCm39) critical splice donor site probably null
X0023:Tpx2 UTSW 2 152,726,948 (GRCm39) missense probably benign 0.05
Posted On 2013-10-07