Incidental Mutation 'IGL01810:Tpx2'
ID 155791
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 # IGL01810
Quality Score
Status
Chromosome 2
Chromosomal Location 152689884-152737241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 152726155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 373 (Q373H)
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: Q373H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028969
Gene: ENSMUSG00000027469
AA Change: Q373H

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: Q373H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105441
Gene: ENSMUSG00000027469
AA Change: Q373H

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 damaging
Transcript: ENSMUST00000164120
AA Change: Q373H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128888
Gene: ENSMUSG00000027469
AA Change: Q373H

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: Q373H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136457
Gene: ENSMUSG00000027469
AA Change: Q373H

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 G T 11: 101,308,185 (GRCm39) Y10* probably null Het
Aass C A 6: 23,107,633 (GRCm39) Q383H probably damaging Het
Bag1 T C 4: 40,936,657 (GRCm39) D333G probably damaging Het
Cap2 A G 13: 46,793,425 (GRCm39) probably benign Het
Col27a1 G T 4: 63,143,868 (GRCm39) A519S probably benign Het
Cr2 A G 1: 194,841,903 (GRCm39) V726A possibly damaging Het
Csmd2 A G 4: 128,374,638 (GRCm39) probably benign Het
Dennd4c A G 4: 86,717,788 (GRCm39) D595G possibly damaging Het
Ercc2 G T 7: 19,127,374 (GRCm39) R340L probably damaging Het
Espl1 A G 15: 102,206,640 (GRCm39) T35A probably benign Het
Fndc3a A G 14: 72,803,581 (GRCm39) Y525H probably benign Het
Gm4922 T C 10: 18,659,795 (GRCm39) Q309R probably benign Het
Gm5263 T C 1: 146,296,292 (GRCm39) noncoding transcript Het
Gm6563 A C 19: 23,653,751 (GRCm39) R180S probably damaging Het
Gpr182 C A 10: 127,586,733 (GRCm39) V73F probably damaging Het
Gramd1b C T 9: 40,227,069 (GRCm39) R179H probably damaging Het
Hk1 C T 10: 62,188,884 (GRCm39) A10T probably benign Het
Hmgn3 C A 9: 82,992,437 (GRCm39) probably benign Het
Il1b C T 2: 129,211,649 (GRCm39) E24K probably damaging Het
Itgb6 G T 2: 60,458,329 (GRCm39) Q475K probably benign Het
Lrrc74b A G 16: 17,363,422 (GRCm39) S368P probably benign Het
Mfsd2b T C 12: 4,916,469 (GRCm39) T234A possibly damaging Het
Muc6 A T 7: 141,237,327 (GRCm39) Y270N probably damaging Het
Naip6 A G 13: 100,424,603 (GRCm39) probably benign Het
Or4b13 A T 2: 90,082,476 (GRCm39) Y285* probably null Het
Pear1 G A 3: 87,659,608 (GRCm39) T742I probably damaging Het
Peli2 G A 14: 48,493,491 (GRCm39) V238I probably benign Het
Pira2 A G 7: 3,847,611 (GRCm39) L26P probably damaging Het
Pot1b A G 17: 55,969,521 (GRCm39) V549A possibly damaging Het
Prdm16 T C 4: 154,432,384 (GRCm39) Y295C probably benign Het
Ptprd A T 4: 76,058,744 (GRCm39) probably benign Het
Rap1gap A T 4: 137,443,466 (GRCm39) M145L probably benign Het
Setd7 A T 3: 51,440,388 (GRCm39) probably benign Het
Ssx2ip T C 3: 146,133,765 (GRCm39) I258T probably benign Het
Stard9 T C 2: 120,529,565 (GRCm39) Y1941H possibly damaging Het
Stxbp3 T C 3: 108,707,468 (GRCm39) E420G probably benign Het
Tpra1 T C 6: 88,886,324 (GRCm39) V101A probably damaging Het
Ttn C T 2: 76,557,352 (GRCm39) R29914Q probably damaging Het
Ubr3 T C 2: 69,833,809 (GRCm39) probably null Het
Usp18 G A 6: 121,230,730 (GRCm39) G53D probably damaging Het
Vps13c A T 9: 67,863,062 (GRCm39) H3026L probably benign Het
Zan T C 5: 137,461,888 (GRCm39) E1097G unknown Het
Other mutations in Tpx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01348:Tpx2 APN 2 152,735,511 (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 2014-02-04