Incidental Mutation 'IGL01951:Tpx2'
ID 181027
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 # IGL01951
Quality Score
Status
Chromosome 2
Chromosomal Location 152689884-152737241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 152726096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 354 (L354V)
Ref Sequence ENSEMBL: ENSMUSP00000136457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028969] [ENSMUST00000109816] [ENSMUST00000164120] [ENSMUST00000178997]
AlphaFold A2APB8
Predicted Effect probably benign
Transcript: ENSMUST00000028969
AA Change: L354V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000028969
Gene: ENSMUSG00000027469
AA Change: L354V

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 benign
Transcript: ENSMUST00000109816
AA Change: L354V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000105441
Gene: ENSMUSG00000027469
AA Change: L354V

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 noncoding transcript
Transcript: ENSMUST00000143740
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144848
Predicted Effect probably benign
Transcript: ENSMUST00000164120
AA Change: L354V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000128888
Gene: ENSMUSG00000027469
AA Change: L354V

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 benign
Transcript: ENSMUST00000178997
AA Change: L354V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000136457
Gene: ENSMUSG00000027469
AA Change: L354V

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,092,865 (GRCm39) I152T probably damaging Het
A2m C T 6: 121,644,149 (GRCm39) T949I possibly damaging Het
Begain T A 12: 108,999,571 (GRCm39) Y605F probably benign Het
Cavin2 A G 1: 51,328,570 (GRCm39) E9G possibly damaging Het
Cdh16 A G 8: 105,344,323 (GRCm39) V72A probably damaging Het
Dgkd T C 1: 87,844,638 (GRCm39) L268P probably damaging Het
Eps8 T A 6: 137,514,669 (GRCm39) Y28F possibly damaging Het
Erap1 T C 13: 74,823,414 (GRCm39) I816T probably damaging Het
Fli1 A T 9: 32,372,660 (GRCm39) F126Y probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21957 A T 7: 124,819,004 (GRCm39) noncoding transcript Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Hectd1 T A 12: 51,841,280 (GRCm39) R618* probably null Het
Homez T C 14: 55,095,633 (GRCm39) E25G probably damaging Het
Ifngr1 C A 10: 19,485,202 (GRCm39) N400K possibly damaging Het
Lin7a G A 10: 107,247,886 (GRCm39) V186I possibly damaging Het
Lpcat2 G T 8: 93,644,675 (GRCm39) S448I probably damaging Het
Lrp10 C A 14: 54,706,119 (GRCm39) Y436* probably null Het
Myef2l G A 3: 10,154,118 (GRCm39) V296M probably damaging Het
Myo1f A G 17: 33,816,991 (GRCm39) H707R possibly damaging Het
Neurl4 A G 11: 69,800,449 (GRCm39) N1147D probably damaging Het
Or4b1b G T 2: 90,112,351 (GRCm39) D189E probably damaging Het
Or6b3 T C 1: 92,438,853 (GRCm39) D299G probably null Het
Pak6 T C 2: 118,523,741 (GRCm39) S299P probably benign Het
Panx2 A G 15: 88,952,970 (GRCm39) D487G probably damaging Het
Sbspon T C 1: 15,929,158 (GRCm39) N211S probably benign Het
Sgsm1 T A 5: 113,434,633 (GRCm39) probably benign Het
Slc38a4 T C 15: 96,917,644 (GRCm39) Y27C probably benign Het
Sorbs1 A G 19: 40,306,460 (GRCm39) probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Ssh1 A T 5: 114,104,308 (GRCm39) Y35N possibly damaging Het
Stx2 A T 5: 129,069,329 (GRCm39) F127L probably damaging Het
Synm A T 7: 67,388,885 (GRCm39) I325N probably damaging Het
Szt2 A G 4: 118,233,690 (GRCm39) probably benign Het
Tbc1d23 A G 16: 57,007,048 (GRCm39) probably benign Het
Tmem50a T C 4: 134,625,739 (GRCm39) probably benign Het
Trafd1 G A 5: 121,512,094 (GRCm39) R399C possibly damaging Het
Trem3 C T 17: 48,556,903 (GRCm39) R125W probably damaging Het
Ubp1 T A 9: 113,780,686 (GRCm39) Y92* probably null Het
Wnk1 T A 6: 119,940,446 (GRCm39) T62S probably damaging Het
Zbtb6 T C 2: 37,319,343 (GRCm39) E195G probably benign Het
Zc3h15 A G 2: 83,491,829 (GRCm39) D306G probably damaging Het
Other mutations in Tpx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Tpx2 APN 2 152,735,511 (GRCm39) missense probably damaging 1.00
IGL01810:Tpx2 APN 2 152,726,155 (GRCm39) missense probably damaging 1.00
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 2014-05-07