Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01810:Tpx2'

155791

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tpx2

Ensembl Gene

ENSMUSG00000027469

Gene Name

TPX2, microtubule-associated

Synonyms

DIL2, p100, REPP86

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01810

Quality Score

Status

Chromosome

Chromosomal Location

152847964-152895321 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 152884235 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	G	T	11: 101,417,359	Y10*	probably null	Het
Aass	C	A	6: 23,107,634	Q383H	probably damaging	Het
Bag1	T	C	4: 40,936,657	D333G	probably damaging	Het
Cap2	A	G	13: 46,639,949		probably benign	Het
Col27a1	G	T	4: 63,225,631	A519S	probably benign	Het
Cr2	A	G	1: 195,159,595	V726A	possibly damaging	Het
Csmd2	A	G	4: 128,480,845		probably benign	Het
Dennd4c	A	G	4: 86,799,551	D595G	possibly damaging	Het
Ercc2	G	T	7: 19,393,449	R340L	probably damaging	Het
Espl1	A	G	15: 102,298,205	T35A	probably benign	Het
Fndc3a	A	G	14: 72,566,141	Y525H	probably benign	Het
Gm4922	T	C	10: 18,784,047	Q309R	probably benign	Het
Gm5263	T	C	1: 146,420,554		noncoding transcript	Het
Gm6563	A	C	19: 23,676,387	R180S	probably damaging	Het
Gpr182	C	A	10: 127,750,864	V73F	probably damaging	Het
Gramd1b	C	T	9: 40,315,773	R179H	probably damaging	Het
Hk1	C	T	10: 62,353,105	A10T	probably benign	Het
Hmgn3	C	A	9: 83,110,384		probably benign	Het
Il1b	C	T	2: 129,369,729	E24K	probably damaging	Het
Itgb6	G	T	2: 60,627,985	Q475K	probably benign	Het
Lrrc74b	A	G	16: 17,545,558	S368P	probably benign	Het
Mfsd2b	T	C	12: 4,866,469	T234A	possibly damaging	Het
Muc6	A	T	7: 141,651,062	Y270N	probably damaging	Het
Naip6	A	G	13: 100,288,095		probably benign	Het
Olfr142	A	T	2: 90,252,132	Y285*	probably null	Het
Pear1	G	A	3: 87,752,301	T742I	probably damaging	Het
Peli2	G	A	14: 48,256,034	V238I	probably benign	Het
Pira2	A	G	7: 3,844,612	L26P	probably damaging	Het
Pot1b	A	G	17: 55,662,521	V549A	possibly damaging	Het
Prdm16	T	C	4: 154,347,927	Y295C	probably benign	Het
Ptprd	A	T	4: 76,140,507		probably benign	Het
Rap1gap	A	T	4: 137,716,155	M145L	probably benign	Het
Setd7	A	T	3: 51,532,967		probably benign	Het
Ssx2ip	T	C	3: 146,428,010	I258T	probably benign	Het
Stard9	T	C	2: 120,699,084	Y1941H	possibly damaging	Het
Stxbp3	T	C	3: 108,800,152	E420G	probably benign	Het
Tpra1	T	C	6: 88,909,342	V101A	probably damaging	Het
Ttn	C	T	2: 76,727,008	R29914Q	probably damaging	Het
Ubr3	T	C	2: 70,003,465		probably null	Het
Usp18	G	A	6: 121,253,771	G53D	probably damaging	Het
Vps13c	A	T	9: 67,955,780	H3026L	probably benign	Het
Zan	T	C	5: 137,463,626	E1097G	unknown	Het

Other mutations in Tpx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Tpx2	APN	2	152893591	missense	probably damaging	1.00
IGL01951:Tpx2	APN	2	152884176	missense	probably benign	0.01
IGL02184:Tpx2	APN	2	152882320	nonsense	probably null
IGL02422:Tpx2	APN	2	152873144	missense	probably benign	0.00
IGL02441:Tpx2	APN	2	152882287	missense	possibly damaging	0.88
R7952_Tpx2_601	UTSW	2	152893594	missense	probably damaging	1.00
reddened	UTSW	2	152869724	missense	probably benign	0.00
Shamed	UTSW	2	152873104	missense	probably benign
R0063:Tpx2	UTSW	2	152880123	missense	probably damaging	0.99
R0076:Tpx2	UTSW	2	152893683	missense	probably damaging	1.00
R0271:Tpx2	UTSW	2	152867367	splice site	probably benign
R0311:Tpx2	UTSW	2	152890492	missense	probably damaging	0.98
R0617:Tpx2	UTSW	2	152873138	missense	probably benign	0.01
R1871:Tpx2	UTSW	2	152893603	missense	probably damaging	1.00
R1882:Tpx2	UTSW	2	152869691	missense	probably benign
R1990:Tpx2	UTSW	2	152890624	missense	probably benign
R1991:Tpx2	UTSW	2	152890624	missense	probably benign
R1992:Tpx2	UTSW	2	152890624	missense	probably benign
R4686:Tpx2	UTSW	2	152889183	missense	possibly damaging	0.62
R4712:Tpx2	UTSW	2	152885038	missense	probably damaging	1.00
R4792:Tpx2	UTSW	2	152885096	missense	probably damaging	0.98
R4873:Tpx2	UTSW	2	152893615	missense	probably benign	0.00
R4875:Tpx2	UTSW	2	152893615	missense	probably benign	0.00
R4991:Tpx2	UTSW	2	152869724	missense	probably benign	0.00
R5178:Tpx2	UTSW	2	152875549	missense	probably benign	0.01
R5757:Tpx2	UTSW	2	152885231	splice site	probably null
R6158:Tpx2	UTSW	2	152873104	missense	probably benign
R6225:Tpx2	UTSW	2	152876628	missense	probably benign
R6539:Tpx2	UTSW	2	152876598	nonsense	probably null
R6633:Tpx2	UTSW	2	152867354	missense	probably damaging	1.00
R7358:Tpx2	UTSW	2	152876630	missense	probably benign
R7741:Tpx2	UTSW	2	152867343	missense	possibly damaging	0.84
R7952:Tpx2	UTSW	2	152893594	missense	probably damaging	1.00
R8433:Tpx2	UTSW	2	152880136	missense	probably damaging	0.99
R8888:Tpx2	UTSW	2	152882335	missense	probably damaging	1.00
R8895:Tpx2	UTSW	2	152882335	missense	probably damaging	1.00
R8920:Tpx2	UTSW	2	152884294	missense	probably damaging	0.99
R9191:Tpx2	UTSW	2	152885204	missense	possibly damaging	0.91
R9267:Tpx2	UTSW	2	152890597	missense	probably damaging	0.99
R9486:Tpx2	UTSW	2	152885013	missense	probably damaging	1.00
R9610:Tpx2	UTSW	2	152873204	missense	probably benign	0.05
R9611:Tpx2	UTSW	2	152873204	missense	probably benign	0.05
R9679:Tpx2	UTSW	2	152869698	missense	possibly damaging	0.87
R9722:Tpx2	UTSW	2	152891556	critical splice donor site	probably null
X0023:Tpx2	UTSW	2	152885028	missense	probably benign	0.05

Posted On

2014-02-04