Mutagenetix > Incidental Mutation

Incidental Mutation 'R9611:Tpx2'

724201

Institutional Source

Beutler Lab

Gene Symbol

Tpx2

Ensembl Gene

ENSMUSG00000027469

Gene Name

TPX2, microtubule-associated

Synonyms

2610005B21Rik, p100, DIL2, REPP86

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

152689884-152737241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152715124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 115 (V115D)

Ref Sequence

ENSEMBL: ENSMUSP00000028969 (fasta)

Gene Model

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

AlphaFold

A2APB8

Predicted Effect

probably benign
Transcript: ENSMUST00000028969
AA Change: V115D

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000028969
Gene: ENSMUSG00000027469
AA Change: V115D

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: V115D

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105441
Gene: ENSMUSG00000027469
AA Change: V115D

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: V115D

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000128888
Gene: ENSMUSG00000027469
AA Change: V115D

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: V115D

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136457
Gene: ENSMUSG00000027469
AA Change: V115D

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: 99.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	T	18: 59,023,399 (GRCm39)	T265S	probably benign	Het
Ahnak	T	A	19: 8,989,162 (GRCm39)	L3482Q	probably damaging	Het
Arhgef5	A	G	6: 43,257,890 (GRCm39)	I1311M	probably damaging	Het
Bcr	T	A	10: 74,990,743 (GRCm39)	Y750N	probably damaging	Het
Bcr	T	A	10: 74,990,745 (GRCm39)	Y750*	probably null	Het
Btbd16	T	A	7: 130,407,595 (GRCm39)	M295K	probably benign	Het
Ccdc88a	T	C	11: 29,427,316 (GRCm39)	L1007P	possibly damaging	Het
Cnep1r1	A	G	8: 88,860,457 (GRCm39)	*126W	probably null	Het
Cntnap5b	C	A	1: 99,894,935 (GRCm39)	P69Q	probably damaging	Het
Coa8	T	G	12: 111,700,108 (GRCm39)	Y163D	probably damaging	Het
Col4a3	A	G	1: 82,678,018 (GRCm39)	M1207V	unknown	Het
Colgalt2	T	A	1: 152,360,745 (GRCm39)	W261R	probably damaging	Het
Cstf1	T	A	2: 172,214,984 (GRCm39)	I35N	probably benign	Het
Cstpp1	T	C	2: 91,135,127 (GRCm39)	D111G	probably damaging	Het
Cul9	A	G	17: 46,830,823 (GRCm39)	L1690P	possibly damaging	Het
Dscaml1	C	A	9: 45,579,522 (GRCm39)	N356K	possibly damaging	Het
Ecm2	A	G	13: 49,668,518 (GRCm39)	N74D	probably benign	Het
Ecm2	A	G	13: 49,681,216 (GRCm39)	I450M	probably damaging	Het
Emc1	T	A	4: 139,091,035 (GRCm39)	D460E	probably benign	Het
Fhip2b	T	C	14: 70,824,258 (GRCm39)	Y493C	probably benign	Het
Fmo5	C	T	3: 97,549,089 (GRCm39)	R246C	possibly damaging	Het
Fyco1	T	C	9: 123,657,585 (GRCm39)	T864A	possibly damaging	Het
Galk2	T	C	2: 125,817,218 (GRCm39)	Y336H	probably damaging	Het
Gcsh	T	A	8: 117,720,125 (GRCm39)	Y14F	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gucy2g	T	C	19: 55,194,605 (GRCm39)	I937M	probably damaging	Het
Hsp90ab1	T	C	17: 45,880,600 (GRCm39)	I370M	possibly damaging	Het
Hypk	T	C	2: 121,288,154 (GRCm39)	S72P	probably damaging	Het
Ighv1-26	T	C	12: 114,752,206 (GRCm39)	Y46C	probably damaging	Het
Kctd13	G	T	7: 126,544,180 (GRCm39)	G293C	probably damaging	Het
Kmt2d	CTGCTGTTGCTG	CTGCTG	15: 98,743,054 (GRCm39)		probably benign	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Krt13	T	C	11: 100,012,318 (GRCm39)	S2G	probably benign	Het
Mark4	C	A	7: 19,167,338 (GRCm39)	R467L	possibly damaging	Het
Mrps33	T	A	6: 39,779,422 (GRCm39)	K91M	probably damaging	Het
Or51f1	T	G	7: 102,506,147 (GRCm39)	H114P	probably damaging	Het
Or5ac25	A	C	16: 59,182,242 (GRCm39)	I113S	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,328,372 (GRCm39)	V639M	probably damaging	Het
Pigyl	A	T	9: 22,069,499 (GRCm39)	H70L	probably damaging	Het
Pip4k2c	A	C	10: 127,036,069 (GRCm39)	L266R	probably damaging	Het
Plg	T	C	17: 12,609,213 (GRCm39)	Y173H	probably benign	Het
Pmp22	G	T	11: 63,024,065 (GRCm39)	V25F	probably benign	Het
Pot1b	T	A	17: 56,006,995 (GRCm39)	T41S	probably benign	Het
Ppp1r16b	T	A	2: 158,537,998 (GRCm39)	Y40N	probably damaging	Het
Prl5a1	A	G	13: 28,329,492 (GRCm39)	E57G	possibly damaging	Het
Prpf3	G	A	3: 95,758,931 (GRCm39)	R74*	probably null	Het
Psmb10	A	G	8: 106,664,144 (GRCm39)	F75S	probably benign	Het
Ptprm	C	A	17: 67,000,483 (GRCm39)	R1167M	probably damaging	Het
Rmnd5b	T	C	11: 51,517,869 (GRCm39)	I162V	probably damaging	Het
Sik1	T	A	17: 32,073,246 (GRCm39)	K70M	probably damaging	Het
Slc44a4	C	T	17: 35,147,793 (GRCm39)	S611F	probably benign	Het
St18	T	C	1: 6,873,147 (GRCm39)	V294A	probably benign	Het
Stk32a	A	G	18: 43,430,620 (GRCm39)	I177V	probably benign	Het
Syne2	T	C	12: 76,080,460 (GRCm39)	F58S	probably benign	Het
Tcf7l2	A	G	19: 55,899,038 (GRCm39)	D215G	probably null	Het
Tcirg1	A	T	19: 3,953,400 (GRCm39)	F149Y	probably benign	Het
Tex14	T	A	11: 87,377,084 (GRCm39)	F143I	probably damaging	Het
Tjp3	A	G	10: 81,119,411 (GRCm39)	V26A	possibly damaging	Het
Tnfaip8	ACACACTCTC	AC	18: 50,179,908 (GRCm39)		probably benign	Het
Tubb2b	C	A	13: 34,311,742 (GRCm39)	K350N	probably damaging	Het
Vps13b	G	T	15: 35,642,555 (GRCm39)	G1389V	possibly damaging	Het
Vps39	T	C	2: 120,172,485 (GRCm39)	R183G	probably damaging	Het
Wdr47	A	T	3: 108,518,729 (GRCm39)	E72D	probably damaging	Het
Wnk4	G	T	11: 101,159,250 (GRCm39)	E556*	probably null	Het
Xpo7	T	A	14: 70,925,617 (GRCm39)	E474V	probably benign	Het
Zfat	A	G	15: 68,051,655 (GRCm39)	V713A	possibly damaging	Het
Zfp189	G	T	4: 49,530,058 (GRCm39)	C387F	probably damaging	Het
Zmiz1	T	C	14: 25,651,022 (GRCm39)	V502A	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
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
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'- ACTCAGAGATCCTCCTGGTTC -3'
(R):5'- GAATGTGCCTTAACCAAGCAAC -3'

Sequencing Primer
(F):5'- CTGCTTCCCAAGTGCTGG -3'
(R):5'- TGTGCCTTAACCAAGCAACTAAGTG -3'

Posted On

2022-09-12