Mutagenetix > Incidental Mutation

Incidental Mutation 'R6158:Tpx2'

489683

Institutional Source

Beutler Lab

Gene Symbol

Tpx2

Ensembl Gene

ENSMUSG00000027469

Gene Name

TPX2, microtubule-associated

Synonyms

DIL2, p100, REPP86

MMRRC Submission

044305-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152847964-152895321 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 152873104 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 82 (H82N)

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: H82N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028969
Gene: ENSMUSG00000027469
AA Change: H82N

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 benign
Transcript: ENSMUST00000109816
AA Change: H82N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105441
Gene: ENSMUSG00000027469
AA Change: H82N

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: ENSMUST00000144848

Predicted Effect

probably benign
Transcript: ENSMUST00000164120
AA Change: H82N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128888
Gene: ENSMUSG00000027469
AA Change: H82N

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 benign
Transcript: ENSMUST00000178997
AA Change: H82N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136457
Gene: ENSMUSG00000027469
AA Change: H82N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,170,636	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,512,672	T32A	probably benign	Het
Adprhl1	C	T	8: 13,224,977	V594M	possibly damaging	Het
Ano3	A	T	2: 110,665,875	Y845N	probably damaging	Het
Arhgap24	A	T	5: 102,892,912	I575L	probably benign	Het
Aurka	A	C	2: 172,363,596		probably null	Het
C1qtnf5	A	T	9: 44,108,970		probably benign	Het
Cacnb2	A	G	2: 14,985,601	D454G	possibly damaging	Het
Ccdc58	T	A	16: 36,089,929	V118D	probably damaging	Het
Chchd5	T	C	2: 129,130,517	L87P	probably damaging	Het
Col7a1	G	T	9: 108,964,603	R1377L	unknown	Het
Cpne8	A	C	15: 90,571,988	S191A	probably damaging	Het
Dhx30	A	T	9: 110,087,030	I671N	probably damaging	Het
Dnah12	A	T	14: 26,773,685	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,320,987	M272V	probably damaging	Het
Fat4	A	T	3: 38,983,262	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401	L1407F	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Gm11565	T	A	11: 99,914,918	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311	R30*	probably null	Het
Htt	T	C	5: 34,907,086	I2943T	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Lmo7	T	A	14: 101,900,137	D247E	probably benign	Het
Mastl	G	T	2: 23,132,772	N646K	possibly damaging	Het
Mei4	G	T	9: 81,927,576	L237F	probably damaging	Het
Mettl27	C	T	5: 134,940,576	P170S	possibly damaging	Het
Mgam	T	A	6: 40,757,714	I896K	probably damaging	Het
Moxd1	T	A	10: 24,284,777	C443S	probably damaging	Het
Myo18b	A	T	5: 112,874,172	N451K	probably benign	Het
Myo7b	T	C	18: 31,988,549	I768V	probably benign	Het
Nos1	A	C	5: 117,867,574	I120L	probably benign	Het
Nsd1	T	C	13: 55,245,621	V345A	probably benign	Het
Olfr1095	A	G	2: 86,851,515	L61P	possibly damaging	Het
Olfr1205	T	C	2: 88,831,146	F10L	probably damaging	Het
Olfr150	C	T	9: 39,737,076	T87I	probably benign	Het
Olfr170	C	A	16: 19,605,925	V248F	probably damaging	Het
Olfr344	A	T	2: 36,569,116	T173S	probably benign	Het
Pdzph1	T	G	17: 58,973,627	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,747,876	L546*	probably null	Het
Pla2g4f	T	C	2: 120,301,071	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,424,676	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,804,021	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,967,254	D35G	probably damaging	Het
Rock2	A	G	12: 16,954,918	D424G	probably benign	Het
Scg2	A	T	1: 79,435,400	D495E	probably damaging	Het
Slc39a2	G	A	14: 51,894,224		probably null	Het
Snrnp48	T	A	13: 38,210,236	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176	M99T	probably damaging	Het
Specc1	T	G	11: 62,118,124	F235L	probably damaging	Het
St13	A	T	15: 81,399,601		probably null	Het
Swap70	T	A	7: 110,270,023	M341K	probably damaging	Het
Synj2	A	G	17: 5,986,212	D67G	probably benign	Het
Tmem135	T	A	7: 89,156,444	I251F	probably benign	Het
Tmem87a	A	T	2: 120,360,103		probably null	Het
Tom1l2	C	T	11: 60,232,927	D128N	probably damaging	Het
Trip12	A	T	1: 84,761,012	C738S	possibly damaging	Het
Ttyh1	A	G	7: 4,125,562	T153A	probably benign	Het
Utrn	C	T	10: 12,690,822	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,036,289	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,933,680	D37V	probably damaging	Het
Vwce	C	T	19: 10,644,221	R206C	possibly damaging	Het
Wrn	G	T	8: 33,319,172	F265L	probably damaging	Het
Zfp472	T	A	17: 32,978,389	C479*	probably null	Het
Zfp831	A	T	2: 174,643,858	T109S	possibly damaging	Het
Znfx1	G	T	2: 167,056,726	Q93K	probably benign	Het

Other mutations in Tpx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Tpx2	APN	2	152893591	missense	probably damaging	1.00
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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTCTCAGCAGTTAAATAGCTACC -3'
(R):5'- CACTGAAGTAACATAAGGAATCTGTGG -3'

Sequencing Primer
(F):5'- GACAGGGTTCAGTATGTAGCCC -3'
(R):5'- GTAACATAAGGAATCTGTGGAGTTAC -3'

Posted On

2017-10-10