Mutagenetix > Incidental Mutation

Incidental Mutation 'R1871:Tpx2'

210716

Institutional Source

Beutler Lab

Gene Symbol

Tpx2

Ensembl Gene

ENSMUSG00000027469

Gene Name

TPX2, microtubule-associated

Synonyms

2610005B21Rik, p100, DIL2, REPP86

MMRRC Submission

039893-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1871 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

152689884-152737241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152735523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 717 (I717T)

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: I717T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028969
Gene: ENSMUSG00000027469
AA Change: I717T

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: I717T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105441
Gene: ENSMUSG00000027469
AA Change: I717T

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: I717T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128888
Gene: ENSMUSG00000027469
AA Change: I717T

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: I717T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136457
Gene: ENSMUSG00000027469
AA Change: I717T

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

0.7617

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

97% (87/90)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	A	G	10: 115,415,699 (GRCm39)		probably null	Het
Abca13	A	T	11: 9,242,134 (GRCm39)	E1332D	probably benign	Het
Abce1	G	A	8: 80,411,897 (GRCm39)	Q588*	probably null	Het
Acads	A	T	5: 115,255,701 (GRCm39)	C45S	probably damaging	Het
Adam34l	A	T	8: 44,078,132 (GRCm39)	Y697*	probably null	Het
Adamts12	T	C	15: 11,311,240 (GRCm39)	S1166P	probably benign	Het
Ano4	T	A	10: 88,828,889 (GRCm39)	I517F	probably damaging	Het
Arpc1a	T	A	5: 145,043,901 (GRCm39)	C344S	possibly damaging	Het
Blk	A	T	14: 63,613,364 (GRCm39)	S381R	possibly damaging	Het
Capn15	C	A	17: 26,183,203 (GRCm39)	W426L	probably damaging	Het
Chd6	T	C	2: 160,832,176 (GRCm39)	T999A	probably damaging	Het
Clca3a2	A	G	3: 144,503,398 (GRCm39)	Y851H	probably benign	Het
Crp	T	A	1: 172,526,172 (GRCm39)	W86R	possibly damaging	Het
Ctnnal1	G	A	4: 56,812,534 (GRCm39)	L705F	probably benign	Het
Cyp2c66	A	G	19: 39,151,858 (GRCm39)	D191G	possibly damaging	Het
Cyp4f37	A	G	17: 32,853,639 (GRCm39)	D441G	probably damaging	Het
D130040H23Rik	T	A	8: 69,755,354 (GRCm39)	I253N	probably benign	Het
Dnah5	T	A	15: 28,331,859 (GRCm39)	Y2148*	probably null	Het
Eef1g	A	T	19: 8,955,330 (GRCm39)	D393V	possibly damaging	Het
Elapor2	A	G	5: 9,468,007 (GRCm39)	E225G	probably damaging	Het
Ephx2	A	T	14: 66,322,183 (GRCm39)	I538N	probably damaging	Het
Fat4	T	A	3: 39,035,221 (GRCm39)	S2958T	possibly damaging	Het
Foxi1	A	T	11: 34,157,937 (GRCm39)	N29K	possibly damaging	Het
Gm10287	G	T	3: 148,930,373 (GRCm39)		noncoding transcript	Het
Gm10801	G	T	2: 98,494,185 (GRCm39)	S109I	probably benign	Het
Gmcl1	T	C	6: 86,674,498 (GRCm39)	D460G	probably benign	Het
Gpr158	A	G	2: 21,820,426 (GRCm39)	D641G	probably damaging	Het
Heph	C	A	X: 95,542,690 (GRCm39)	S561Y	probably benign	Het
Hgfac	A	G	5: 35,200,257 (GRCm39)	*90W	probably null	Het
Hp1bp3	C	G	4: 137,949,497 (GRCm39)	P65R	probably damaging	Het
Ighv6-4	T	A	12: 114,370,221 (GRCm39)	Y58F	probably benign	Het
Jrk	T	C	15: 74,578,412 (GRCm39)	D291G	possibly damaging	Het
Kdm4d	A	G	9: 14,375,679 (GRCm39)	Y60H	probably damaging	Het
Khdrbs3	T	C	15: 68,921,291 (GRCm39)	Y203H	probably damaging	Het
Klhl6	A	T	16: 19,775,793 (GRCm39)	V255D	possibly damaging	Het
Krt9	C	T	11: 100,081,614 (GRCm39)	R305H	probably damaging	Het
Lama2	T	G	10: 26,860,490 (GRCm39)	N2999T	probably damaging	Het
Letm2	A	G	8: 26,086,460 (GRCm39)		probably benign	Het
Lipa	A	T	19: 34,488,328 (GRCm39)	L106Q	probably damaging	Het
Llph	A	T	10: 120,067,141 (GRCm39)	N86I	probably damaging	Het
Lyst	T	A	13: 13,826,297 (GRCm39)	N1601K	probably benign	Het
Mc1r	T	A	8: 124,134,275 (GRCm39)	S9R	probably benign	Het
Mfsd14a	A	G	3: 116,434,969 (GRCm39)	I249T	probably benign	Het
Mtfp1	G	A	11: 4,044,012 (GRCm39)	R73C	probably benign	Het
Myo1a	A	G	10: 127,555,540 (GRCm39)	Q877R	probably benign	Het
Nalcn	A	C	14: 123,831,965 (GRCm39)	V103G	possibly damaging	Het
Ndst3	A	T	3: 123,355,673 (GRCm39)	F119I	probably damaging	Het
Or8k16	A	G	2: 85,520,655 (GRCm39)	N294S	probably damaging	Het
Patl1	T	C	19: 11,902,596 (GRCm39)		probably benign	Het
Pcdhb2	A	T	18: 37,430,408 (GRCm39)		probably null	Het
Pcdhb22	A	C	18: 37,652,200 (GRCm39)	T223P	probably damaging	Het
Pcdhga1	T	A	18: 37,973,143 (GRCm39)	N907K	probably damaging	Het
Pfas	T	C	11: 68,882,795 (GRCm39)	D782G	probably damaging	Het
Plpp6	T	C	19: 28,941,684 (GRCm39)	F95S	probably damaging	Het
Polr2b	T	A	5: 77,474,374 (GRCm39)		probably benign	Het
Qars1	T	G	9: 108,391,315 (GRCm39)		probably null	Het
Ranbp2	A	G	10: 58,328,383 (GRCm39)	I2800V	probably damaging	Het
Rnf213	T	C	11: 119,340,955 (GRCm39)	V3532A	probably benign	Het
Rubcnl	T	C	14: 75,279,849 (GRCm39)	S411P	possibly damaging	Het
Scn1a	C	A	2: 66,148,369 (GRCm39)	G1059W	probably damaging	Het
Sgms1	C	T	19: 32,137,282 (GRCm39)	V95I	probably benign	Het
Siglecf	A	G	7: 43,004,967 (GRCm39)	N399S	probably benign	Het
Slc29a4	T	C	5: 142,707,243 (GRCm39)	*529R	probably null	Het
Slfn9	G	T	11: 82,872,402 (GRCm39)	T778N	probably benign	Het
Sorl1	G	A	9: 41,881,021 (GRCm39)	Q2167*	probably null	Het
Stkld1	A	G	2: 26,827,985 (GRCm39)		probably benign	Het
Taar8b	T	C	10: 23,967,900 (GRCm39)	Y98C	probably damaging	Het
Tecta	G	A	9: 42,248,472 (GRCm39)	L1977F	probably damaging	Het
Tecta	G	C	9: 42,248,636 (GRCm39)	T1917R	probably damaging	Het
Topaz1	T	A	9: 122,628,544 (GRCm39)	S1544T	probably benign	Het
Tyk2	A	T	9: 21,032,737 (GRCm39)	V342E	probably damaging	Het
Ube4a	A	T	9: 44,856,235 (GRCm39)		probably null	Het
Unc80	A	T	1: 66,549,876 (GRCm39)	R711S	possibly damaging	Het
Ush2a	C	A	1: 188,558,665 (GRCm39)	D3631E	probably benign	Het
Usp34	A	G	11: 23,314,479 (GRCm39)	H807R	probably benign	Het
Vps13a	T	C	19: 16,642,028 (GRCm39)	T2200A	probably benign	Het
Wif1	A	G	10: 120,920,824 (GRCm39)	I215M	probably benign	Het
Wnk1	T	C	6: 119,928,050 (GRCm39)	T1134A	probably damaging	Het
Xxylt1	A	G	16: 30,776,235 (GRCm39)	V367A	probably damaging	Het
Zfp735	A	T	11: 73,601,412 (GRCm39)	K119*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CACCTGCTTGGGCTTCATAC -3'
(R):5'- AAAGGGCCGGCTAATGTCTG -3'

Sequencing Primer
(F):5'- ACCTGCTTGGGCTTCATACTTCTC -3'
(R):5'- GCTCATTAGCTTCAAAGTTGCTG -3'

Posted On

2014-06-30