Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01348:Tpx2'

75143

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01348

Quality Score

Status

Chromosome

Chromosomal Location

152847964-152895321 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 152893591 bp

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]

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

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: K713R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105441
Gene: ENSMUSG00000027469
AA Change: K713R

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: ENSMUST00000164120
AA Change: K713R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128888
Gene: ENSMUSG00000027469
AA Change: K713R

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: K713R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136457
Gene: ENSMUSG00000027469
AA Change: K713R

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	C	11: 23,517,213	E140G	probably null	Het
8030462N17Rik	A	G	18: 77,673,917	I233T	possibly damaging	Het
Adgrl3	A	G	5: 81,726,723	T956A	probably damaging	Het
Aff4	G	A	11: 53,402,500	S772N	probably benign	Het
Atad5	A	G	11: 80,095,564	I492M	probably benign	Het
Atf4	T	C	15: 80,256,527		probably benign	Het
Atrip	A	G	9: 109,069,295	S219P	probably damaging	Het
Axl	G	A	7: 25,763,309	R656W	probably damaging	Het
B3gnt3	T	A	8: 71,693,004	Q240L	possibly damaging	Het
Baz2b	A	G	2: 59,933,687	V915A	possibly damaging	Het
C330027C09Rik	A	G	16: 49,013,188	I551V	probably damaging	Het
Cacna1s	T	C	1: 136,075,152	V329A	possibly damaging	Het
Celf3	C	A	3: 94,488,228	Q388K	possibly damaging	Het
Ciita	T	C	16: 10,510,727	S292P	probably damaging	Het
Clec18a	G	A	8: 111,071,613	A423V	probably damaging	Het
Clnk	T	C	5: 38,713,207	D336G	probably damaging	Het
Csmd1	T	G	8: 15,910,596	H3273P	probably damaging	Het
Cyp3a11	A	T	5: 145,869,007	V157E	possibly damaging	Het
Dcp1b	T	C	6: 119,183,718	I87T	probably damaging	Het
Ell3	A	G	2: 121,441,796	S66P	probably damaging	Het
Ercc4	T	C	16: 13,132,934	F631L	probably damaging	Het
Etl4	T	A	2: 20,806,973	V1289D	probably damaging	Het
Gm16372	T	C	12: 24,493,607		probably benign	Het
Gm4553	C	T	7: 142,165,172	C173Y	unknown	Het
Gm8989	T	A	7: 106,329,835	H285L	unknown	Het
Gykl1	A	T	18: 52,694,736	I339F	possibly damaging	Het
H60b	A	C	10: 22,286,179	N101T	possibly damaging	Het
Inpp4a	C	T	1: 37,388,905	T407I	probably damaging	Het
Itga11	A	G	9: 62,744,579	N331S	possibly damaging	Het
Kbtbd6	T	A	14: 79,453,343	C430S	probably damaging	Het
Mfsd4a	T	C	1: 132,067,826	S1G	probably null	Het
Mybpc2	C	A	7: 44,515,928	M372I	probably benign	Het
Myh10	A	T	11: 68,811,803	T1768S	probably benign	Het
Myh8	A	G	11: 67,297,780	K1063E	probably damaging	Het
Nat8f5	A	T	6: 85,817,880	F33I	probably damaging	Het
Nbeal2	T	G	9: 110,629,146	N2119T	probably damaging	Het
Nek11	C	T	9: 105,392,913	G37S	probably damaging	Het
Npc1l1	T	C	11: 6,227,974	N479D	probably damaging	Het
Nup160	A	G	2: 90,700,428	T477A	probably benign	Het
Olfr121	A	T	17: 37,752,286	H144L	probably benign	Het
Olfr186	T	A	16: 59,027,794	T38S	probably damaging	Het
Pcgf2	A	G	11: 97,690,240	V259A	probably benign	Het
Pmm1	A	G	15: 81,952,018	V131A	probably damaging	Het
Polr3a	A	T	14: 24,461,763	D908E	probably damaging	Het
Psg29	A	C	7: 17,210,673	R369S	probably benign	Het
Ptprq	T	A	10: 107,711,904	D211V	probably damaging	Het
Rdh9	A	G	10: 127,776,792	N103S	probably benign	Het
Riok3	T	C	18: 12,152,963		probably benign	Het
Serpinb1b	A	T	13: 33,091,415	Q174H	probably benign	Het
Sgip1	G	T	4: 102,915,156		probably null	Het
Sgpp1	A	T	12: 75,734,993	Y191N	probably damaging	Het
Slc12a1	A	G	2: 125,194,131	N641S	probably damaging	Het
Slc5a4b	T	C	10: 76,070,588	N399S	probably damaging	Het
Snx16	C	T	3: 10,419,159	A335T	probably damaging	Het
Sos2	C	T	12: 69,618,092	R355H	probably damaging	Het
Szt2	A	G	4: 118,393,624		probably benign	Het
Tbcd	T	A	11: 121,497,076	D344E	probably benign	Het
Tek	C	A	4: 94,859,658	Q988K	probably damaging	Het
Tgm6	A	G	2: 130,137,379	D143G	probably damaging	Het
Trappc9	T	A	15: 72,937,009	E556V	possibly damaging	Het
Trpm6	A	T	19: 18,877,651	K1891N	probably damaging	Het
Trpv1	G	A	11: 73,238,252		probably null	Het
Usp37	T	C	1: 74,461,702	S567G	probably damaging	Het
Zfp773	A	T	7: 7,135,315	V107D	possibly damaging	Het

Other mutations in Tpx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01810:Tpx2	APN	2	152884235	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
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
X0023:Tpx2	UTSW	2	152885028	missense	probably benign	0.05

Posted On

2013-10-07