Mutagenetix > Incidental Mutation

Incidental Mutation 'R8895:Tpx2'

677937

Institutional Source

Beutler Lab

Gene Symbol

Tpx2

Ensembl Gene

ENSMUSG00000027469

Gene Name

TPX2, microtubule-associated

Synonyms

2610005B21Rik, p100, DIL2, REPP86

MMRRC Submission

068754-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8895 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

152689884-152737241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152724255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 344 (Y344H)

Ref Sequence

ENSEMBL: ENSMUSP00000028969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028969] [ENSMUST00000109816] [ENSMUST00000164120] [ENSMUST00000178997]

AlphaFold

A2APB8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028969
AA Change: Y344H

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

SMART Domains

Protein: ENSMUSP00000028969
Gene: ENSMUSG00000027469
AA Change: Y344H

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: Y344H

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

SMART Domains

Protein: ENSMUSP00000105441
Gene: ENSMUSG00000027469
AA Change: Y344H

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: Y344H

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

SMART Domains

Protein: ENSMUSP00000128888
Gene: ENSMUSG00000027469
AA Change: Y344H

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: Y344H

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

SMART Domains

Protein: ENSMUSP00000136457
Gene: ENSMUSG00000027469
AA Change: Y344H

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (74/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	G	A	X: 69,437,994 (GRCm39)	R100W	possibly damaging	Het
Adamts10	G	A	17: 33,768,270 (GRCm39)	R814H	probably damaging	Het
Akr1a1	A	G	4: 116,498,260 (GRCm39)	L95P	probably damaging	Het
Amigo2	G	T	15: 97,143,389 (GRCm39)	N344K	probably damaging	Het
Ankrd11	T	C	8: 123,621,014 (GRCm39)	D946G	possibly damaging	Het
Arb2a	T	A	13: 78,147,773 (GRCm39)	N280K	probably damaging	Het
Btnl6	T	G	17: 34,734,391 (GRCm39)	I124L	probably benign	Het
Bzw2	A	T	12: 36,173,982 (GRCm39)	C97*	probably null	Het
Celsr2	G	A	3: 108,320,880 (GRCm39)	T644I	possibly damaging	Het
Cep85l	A	T	10: 53,224,911 (GRCm39)	L226Q	possibly damaging	Het
Ces1g	T	C	8: 94,046,512 (GRCm39)	K338E	possibly damaging	Het
Cldn10	G	A	14: 119,092,507 (GRCm39)	D36N	probably damaging	Het
Cntnap4	T	A	8: 113,479,598 (GRCm39)	I261N	probably benign	Het
Csnk1g1	T	C	9: 65,915,109 (GRCm39)		probably null	Het
Cyp2c69	T	C	19: 39,869,910 (GRCm39)	D104G	possibly damaging	Het
Cyp3a11	T	C	5: 145,797,330 (GRCm39)	T350A	probably benign	Het
Daw1	T	A	1: 83,187,011 (GRCm39)	C274S	probably damaging	Het
Dmtn	T	C	14: 70,850,144 (GRCm39)	T267A	probably benign	Het
Dock5	A	G	14: 68,055,112 (GRCm39)	Y585H	possibly damaging	Het
Dsg2	T	G	18: 20,723,126 (GRCm39)	V384G	probably damaging	Het
Elmo1	C	T	13: 20,748,630 (GRCm39)	L492F	probably damaging	Het
Fmo1	T	C	1: 162,657,827 (GRCm39)	D438G	probably benign	Het
Folr2	C	T	7: 101,489,408 (GRCm39)	V244M	unknown	Het
Galnt18	T	C	7: 111,378,709 (GRCm39)	I16V	possibly damaging	Het
Gm10036	C	A	18: 15,966,207 (GRCm39)	Y119*	probably null	Het
Gria4	A	G	9: 4,664,951 (GRCm39)	S102P	probably damaging	Het
Hc	A	T	2: 34,890,861 (GRCm39)	N1318K	probably benign	Het
Ifitm1	T	C	7: 140,549,499 (GRCm39)	L94P	probably damaging	Het
Iqca1l	T	C	5: 24,755,628 (GRCm39)	D298G	probably benign	Het
Itga9	G	A	9: 118,510,835 (GRCm39)	V455M	probably damaging	Het
Kank4	C	T	4: 98,653,747 (GRCm39)	V894I	possibly damaging	Het
Kcnip2	T	A	19: 45,785,100 (GRCm39)		probably benign	Het
Lamb1	A	G	12: 31,352,953 (GRCm39)	T885A	possibly damaging	Het
Lamp5	A	G	2: 135,902,874 (GRCm39)	T198A	probably benign	Het
Ldc1	T	C	4: 130,105,223 (GRCm39)	K316E	probably benign	Het
Lipi	A	T	16: 75,352,710 (GRCm39)	L376I	probably benign	Het
Lrrc37	T	A	11: 103,509,656 (GRCm39)	T771S	unknown	Het
Luc7l	T	C	17: 26,472,978 (GRCm39)	I31T	possibly damaging	Het
Malrd1	A	T	2: 15,850,038 (GRCm39)	N1219I	unknown	Het
Mcf2l	C	T	8: 13,034,330 (GRCm39)		probably benign	Het
Mrc1	A	C	2: 14,312,760 (GRCm39)	N894T	probably damaging	Het
Mrpl35	C	T	6: 71,793,271 (GRCm39)	A127T	possibly damaging	Het
Myom2	T	A	8: 15,152,589 (GRCm39)	Y645*	probably null	Het
Naip2	T	C	13: 100,325,644 (GRCm39)	H88R	probably benign	Het
Noc3l	T	A	19: 38,798,751 (GRCm39)	K282N	probably damaging	Het
Nwd2	T	C	5: 63,963,241 (GRCm39)	Y942H	probably damaging	Het
Or10ag2	T	C	2: 87,248,659 (GRCm39)	V87A	probably benign	Het
Or52d1	T	A	7: 103,756,302 (GRCm39)	I272N	probably damaging	Het
Osbpl9	C	A	4: 108,930,333 (GRCm39)	A221S	probably benign	Het
Paip1	T	C	13: 119,566,801 (GRCm39)	L45S	probably benign	Het
Peak1	T	C	9: 56,113,938 (GRCm39)	T1668A	probably benign	Het
Pgap3	A	G	11: 98,281,602 (GRCm39)	F199L	possibly damaging	Het
Ppip5k2	T	C	1: 97,639,544 (GRCm39)	M1061V	probably benign	Het
Ppp6r3	A	T	19: 3,544,017 (GRCm39)	W333R	probably damaging	Het
Ptk2b	T	A	14: 66,412,242 (GRCm39)	N383I	probably benign	Het
Rab21	G	C	10: 115,151,080 (GRCm39)	R58G	probably benign	Het
Rabif	C	T	1: 134,433,935 (GRCm39)	T83I	probably damaging	Het
Rdh7	A	T	10: 127,724,430 (GRCm39)	F18Y	probably benign	Het
Scart2	C	T	7: 139,841,532 (GRCm39)	P279S	possibly damaging	Het
Septin5	A	G	16: 18,441,861 (GRCm39)	M315T	possibly damaging	Het
Slc27a6	A	G	18: 58,715,306 (GRCm39)	Y303C	probably damaging	Het
Slc7a7	T	A	14: 54,607,293 (GRCm39)	M495L	probably benign	Het
Sntg1	T	A	1: 8,748,074 (GRCm39)		probably null	Het
Spred2	T	A	11: 19,951,019 (GRCm39)	I72N	probably benign	Het
St3gal1	A	T	15: 66,980,086 (GRCm39)	I271N	possibly damaging	Het
Stox1	A	T	10: 62,495,386 (GRCm39)	H962Q	probably benign	Het
Supt6	A	T	11: 78,103,664 (GRCm39)	M1347K	probably damaging	Het
Susd2	G	T	10: 75,475,452 (GRCm39)	A484D	possibly damaging	Het
Tmem260	A	G	14: 48,737,845 (GRCm39)		probably benign	Het
Tpbg	C	A	9: 85,726,520 (GRCm39)	A163E	possibly damaging	Het
Ttf2	A	T	3: 100,870,028 (GRCm39)	F348L	probably benign	Het
Ttn	A	T	2: 76,663,650 (GRCm39)	V11675E	unknown	Het
Txnl4b	T	A	8: 110,299,467 (GRCm39)	Y142*	probably null	Het
Vmn2r18	G	A	5: 151,485,140 (GRCm39)	R785C	possibly damaging	Het
Zbtb18	T	A	1: 177,276,044 (GRCm39)	V459E	probably damaging	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
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
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'- GCCCTTTGCTGAACAACTC -3'
(R):5'- TGGTTTACCCAAAATACTAGTCCC -3'

Sequencing Primer
(F):5'- GCTGAACAACTCTTCTCTTCACAGG -3'
(R):5'- GCTGGAATTATAGGCATGCATCACC -3'

Posted On

2021-08-02