Mutagenetix > Incidental Mutation

Incidental Mutation 'R4875:Tpx2'

472531

Institutional Source

Beutler Lab

Gene Symbol

Tpx2

Ensembl Gene

ENSMUSG00000027469

Gene Name

TPX2, microtubule-associated

Synonyms

2610005B21Rik, p100, DIL2, REPP86

MMRRC Submission

044392-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4875 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152689884-152737241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 152735535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 721 (A721E)

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: A721E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000028969
Gene: ENSMUSG00000027469
AA Change: A721E

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: A721E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000105441
Gene: ENSMUSG00000027469
AA Change: A721E

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: ENSMUST00000164120
AA Change: A721E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000128888
Gene: ENSMUSG00000027469
AA Change: A721E

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: A721E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000136457
Gene: ENSMUSG00000027469
AA Change: A721E

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

95% (57/60)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,521,189 (GRCm39)	E119D	probably benign	Het
Alox5	A	T	6: 116,390,811 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,011,515 (GRCm39)	V1294A	probably damaging	Het
BB019430	A	G	10: 58,539,865 (GRCm39)		noncoding transcript	Het
Bbs9	T	C	9: 22,490,011 (GRCm39)	F261L	probably benign	Het
Catsperb	A	T	12: 101,554,244 (GRCm39)	N646I	possibly damaging	Het
Ccdc112	A	G	18: 46,429,356 (GRCm39)	I114T	probably damaging	Het
Cecr2	T	C	6: 120,727,877 (GRCm39)	L340P	probably damaging	Het
Ces2e	T	A	8: 105,653,817 (GRCm39)	V85E	probably damaging	Het
Cnpy2	C	A	10: 128,161,964 (GRCm39)	T79K	probably damaging	Het
Cntn4	G	A	6: 106,414,874 (GRCm39)	R135H	possibly damaging	Het
Cpne8	T	A	15: 90,532,771 (GRCm39)		probably benign	Het
Ctso	C	T	3: 81,849,688 (GRCm39)		probably benign	Het
Cyp3a16	C	A	5: 145,389,659 (GRCm39)	M235I	probably benign	Het
Dll3	A	G	7: 27,995,860 (GRCm39)	C314R	probably damaging	Het
Dnah7c	A	G	1: 46,728,085 (GRCm39)	N2928D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dqx1	C	A	6: 83,037,993 (GRCm39)	D460E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ehbp1	A	G	11: 22,051,164 (GRCm39)	C438R	probably damaging	Het
Ehd3	T	G	17: 74,112,299 (GRCm39)	V21G	probably damaging	Het
Ero1b	G	A	13: 12,619,325 (GRCm39)	V440I	probably damaging	Het
Fpgt	G	A	3: 154,793,550 (GRCm39)	A159V	probably damaging	Het
Gcn1	T	C	5: 115,714,229 (GRCm39)	L123P	possibly damaging	Het
Gm14496	A	T	2: 181,639,226 (GRCm39)	R439W	probably damaging	Het
Gm4353	G	C	7: 115,683,648 (GRCm39)	P49R	probably damaging	Het
Gsdmc2	C	T	15: 63,700,101 (GRCm39)	A224T	probably benign	Het
Helz	T	A	11: 107,528,560 (GRCm39)		probably benign	Het
Hnf1a	T	C	5: 115,108,732 (GRCm39)	T58A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcns1	T	C	2: 164,010,021 (GRCm39)	Y246C	probably damaging	Het
Kif26b	A	G	1: 178,742,892 (GRCm39)	E549G	probably benign	Het
Krt9	T	C	11: 100,080,863 (GRCm39)	I330V	probably benign	Het
Lair1	A	T	7: 4,032,033 (GRCm39)	S25T	probably benign	Het
Lhx4	T	C	1: 155,581,013 (GRCm39)	T171A	possibly damaging	Het
Luzp2	A	G	7: 54,816,996 (GRCm39)	I149V	possibly damaging	Het
Mcoln1	T	A	8: 3,557,422 (GRCm39)	S143T	probably benign	Het
Mcph1	A	G	8: 18,675,574 (GRCm39)		probably null	Het
Mgat5	G	A	1: 127,396,986 (GRCm39)	V578M	probably damaging	Het
Mis18bp1	G	A	12: 65,208,209 (GRCm39)	T168M	probably benign	Het
Mospd4	G	T	18: 46,598,804 (GRCm39)		noncoding transcript	Het
Mroh2a	G	T	1: 88,182,657 (GRCm39)	R1195L	possibly damaging	Het
Myom1	T	C	17: 71,379,114 (GRCm39)	V626A	probably damaging	Het
Naa80	C	T	9: 107,460,818 (GRCm39)	R238C	probably damaging	Het
Ncam1	T	C	9: 49,418,921 (GRCm39)		probably benign	Het
Ncor1	AGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTG	11: 62,324,437 (GRCm39)		probably benign	Het
Ndufv1	T	C	19: 4,062,653 (GRCm39)		probably null	Het
Nlrp2	A	T	7: 5,301,858 (GRCm39)	F211L	probably benign	Het
Or10a49	A	T	7: 108,467,993 (GRCm39)	F123I	probably damaging	Het
Or10q12	T	A	19: 13,746,126 (GRCm39)	M140K	probably damaging	Het
Or2ad1	T	A	13: 21,326,450 (GRCm39)	Y259F	probably damaging	Het
Osbpl11	G	A	16: 33,054,863 (GRCm39)	V649I	probably benign	Het
Pax8	T	A	2: 24,331,652 (GRCm39)	M144L	probably benign	Het
Pcnt	T	C	10: 76,205,688 (GRCm39)	T2555A	probably benign	Het
Plat	T	A	8: 23,258,466 (GRCm39)	I23K	probably benign	Het
Plpp2	G	A	10: 79,366,763 (GRCm39)	T51M	probably damaging	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Prl7c1	T	C	13: 27,957,742 (GRCm39)	M233V	probably benign	Het
Prox1	A	C	1: 189,894,319 (GRCm39)	F42C	probably damaging	Het
Pwwp2b	A	T	7: 138,835,978 (GRCm39)	Q473L	possibly damaging	Het
Rims4	A	T	2: 163,707,443 (GRCm39)	N127K	probably null	Het
Scn1a	T	C	2: 66,158,820 (GRCm39)	T367A	possibly damaging	Het
Slc23a2	A	G	2: 131,898,800 (GRCm39)	I579T	possibly damaging	Het
Sp9	T	C	2: 73,103,962 (GRCm39)	V172A	possibly damaging	Het
Spta1	T	A	1: 174,003,396 (GRCm39)	L109Q	probably damaging	Het
Strap	ACCTGCCCTCCT	ACCT	6: 137,726,316 (GRCm39)		probably benign	Het
Synj2	A	T	17: 6,038,343 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,206 (GRCm39)	V15A	probably damaging	Het
Tgif2-ps2	A	G	17: 40,426,274 (GRCm39)		noncoding transcript	Het
Tnrc18	A	T	5: 142,750,932 (GRCm39)	M1216K	unknown	Het
Tpst2	T	A	5: 112,457,687 (GRCm39)	Y69*	probably null	Het
Trmt1l	A	G	1: 151,330,755 (GRCm39)	T591A	probably benign	Het
Tuba8	T	A	6: 121,203,042 (GRCm39)		probably benign	Het
Ubiad1	T	C	4: 148,528,556 (GRCm39)	T118A	possibly damaging	Het
Unc13c	T	C	9: 73,424,566 (GRCm39)	T2017A	probably damaging	Het
Vmn1r59	G	T	7: 5,457,108 (GRCm39)	N217K	probably benign	Het
Vmn2r87	T	C	10: 130,308,367 (GRCm39)	I624V	probably damaging	Het
Wdr4	A	G	17: 31,718,129 (GRCm39)	V315A	probably benign	Het
Xpo7	T	C	14: 70,914,256 (GRCm39)		probably null	Het
Zfp827	T	A	8: 79,787,403 (GRCm39)	W190R	probably damaging	Het
Zfp971	A	G	2: 177,674,940 (GRCm39)	T180A	probably benign	Het

Other mutations in Tpx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Predicted Primers

Posted On

2017-04-14