Mutagenetix > Incidental Mutation

Incidental Mutation 'R8071:Tacc3'

628903

Institutional Source

Beutler Lab

Gene Symbol

Tacc3

Ensembl Gene

ENSMUSG00000037313

Gene Name

transforming, acidic coiled-coil containing protein 3

Synonyms

Arnt interacting protein, Aint

MMRRC Submission

067506-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8071 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

33815472-33836339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33821169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 98 (R98W)

Ref Sequence

ENSEMBL: ENSMUSP00000074394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074849] [ENSMUST00000079534] [ENSMUST00000114426] [ENSMUST00000152847] [ENSMUST00000201633]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074849
AA Change: R98W

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074394
Gene: ENSMUSG00000037313
AA Change: R98W

Domain	Start	End	E-Value	Type
low complexity region	127	143	N/A	INTRINSIC
internal_repeat_1	144	212	2.67e-29	PROSPERO
internal_repeat_1	240	308	2.67e-29	PROSPERO
Pfam:TACC	435	631	2.6e-74	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079534
AA Change: R98W

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078491
Gene: ENSMUSG00000037313
AA Change: R98W

Domain	Start	End	E-Value	Type
low complexity region	127	143	N/A	INTRINSIC
internal_repeat_1	144	212	2.48e-29	PROSPERO
internal_repeat_1	240	308	2.48e-29	PROSPERO
Pfam:TACC	427	629	2.1e-73	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114426
AA Change: R98W

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110069
Gene: ENSMUSG00000037313
AA Change: R98W

Domain	Start	End	E-Value	Type
low complexity region	127	143	N/A	INTRINSIC
internal_repeat_1	144	212	2.48e-29	PROSPERO
internal_repeat_1	240	308	2.48e-29	PROSPERO
Pfam:TACC	427	629	2.1e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138240

SMART Domains

Protein: ENSMUSP00000115481
Gene: ENSMUSG00000037313

Domain	Start	End	E-Value	Type
Pfam:TACC	1	136	5.8e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139888

SMART Domains

Protein: ENSMUSP00000117407
Gene: ENSMUSG00000037313

Domain	Start	End	E-Value	Type
Pfam:TACC	1	155	1.2e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152847
AA Change: R25W

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000201633

SMART Domains

Protein: ENSMUSP00000144567
Gene: ENSMUSG00000037313

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
internal_repeat_1	34	102	8.87e-21	PROSPERO
internal_repeat_1	130	198	8.87e-21	PROSPERO

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.8%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transforming acidic colied-coil protein family. The encoded protein is a motor spindle protein that may play a role in stabilization of the mitotic spindle. This protein may also play a role in growth a differentiation of certain cancer cells. [provided by RefSeq, Nov 2011]
PHENOTYPE: Nullizygous mutations cause embryonic growth delay and prenatal death. Homozygotes for a null allele show hematopoietic deficiencies and severe facial clefts. Homozygotes for a hypomorphic allele die neonatally with malformed axial skeletons due to failed mitosis in mesenchymal sclerotome cells. [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
Acads	T	C	5: 115,251,226 (GRCm39)	E86G	probably benign	Het
Agmo	A	G	12: 37,448,728 (GRCm39)	T217A	probably damaging	Het
Arhgap39	A	G	15: 76,621,702 (GRCm39)	S300P	probably benign	Het
Casp12	T	C	9: 5,346,647 (GRCm39)	L58P	probably damaging	Het
Ccar2	T	C	14: 70,389,902 (GRCm39)	T24A	probably benign	Het
Ccndbp1	C	A	2: 120,845,046 (GRCm39)	T321K	unknown	Het
Cd200r3	G	A	16: 44,774,503 (GRCm39)	C172Y	probably damaging	Het
Chd2	T	A	7: 73,187,132 (GRCm39)	H9L	probably benign	Het
Cracdl	C	A	1: 37,663,010 (GRCm39)	E963*	probably null	Het
Cramp1	T	A	17: 25,201,674 (GRCm39)	S603C	probably damaging	Het
Crtac1	C	T	19: 42,286,239 (GRCm39)	R448H	probably damaging	Het
Csmd2	A	T	4: 128,287,331 (GRCm39)	Y1022F		Het
Ctns	T	C	11: 73,075,760 (GRCm39)	Y363C	probably damaging	Het
D630044L22Rik	A	G	17: 26,179,118 (GRCm39)	T15A	possibly damaging	Het
Dhx38	A	C	8: 110,285,333 (GRCm39)	I444M	probably benign	Het
Dnah14	A	T	1: 181,443,459 (GRCm39)	I450F	possibly damaging	Het
Dpf1	T	C	7: 29,013,566 (GRCm39)	F245L	probably benign	Het
Efr3b	A	G	12: 4,032,898 (GRCm39)	V269A	probably benign	Het
Eprs1	G	T	1: 185,126,653 (GRCm39)	V530L	possibly damaging	Het
Eps8l2	A	G	7: 140,922,860 (GRCm39)	N41S	probably damaging	Het
Erbb4	T	C	1: 68,435,470 (GRCm39)	I142M	probably damaging	Het
Fhip1a	T	C	3: 85,637,868 (GRCm39)	M144V	probably damaging	Het
Flnc	A	T	6: 29,457,445 (GRCm39)	D2381V	probably damaging	Het
Fndc1	T	A	17: 7,991,362 (GRCm39)	D778V	unknown	Het
Galnt3	A	G	2: 65,921,555 (GRCm39)	I492T	probably benign	Het
Gigyf2	T	C	1: 87,374,155 (GRCm39)	M1261T	probably damaging	Het
Haus8	A	G	8: 71,708,695 (GRCm39)	F126S	probably benign	Het
Hif3a	A	G	7: 16,782,686 (GRCm39)	L293S	probably damaging	Het
Ino80c	G	A	18: 24,239,707 (GRCm39)	T200I	unknown	Het
Jag1	T	A	2: 136,943,717 (GRCm39)	M160L	probably benign	Het
Kcnj12	C	A	11: 60,960,825 (GRCm39)	H374Q	probably damaging	Het
Lrrc27	A	G	7: 138,816,902 (GRCm39)	I433M	probably benign	Het
Lyzl4	C	T	9: 121,407,160 (GRCm39)	W123*	probably null	Het
Map2k4	A	T	11: 65,597,827 (GRCm39)	C264S		Het
Mmrn1	C	T	6: 60,921,508 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,850,631 (GRCm39)	T709I	probably benign	Het
Myo9a	T	A	9: 59,781,931 (GRCm39)	W1706R	probably benign	Het
Nlrp5	A	G	7: 23,117,869 (GRCm39)	E531G	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Pcdhb11	A	C	18: 37,555,422 (GRCm39)	I251L	probably benign	Het
Per3	A	G	4: 151,113,270 (GRCm39)	S353P	probably damaging	Het
Piezo1	T	C	8: 123,213,750 (GRCm39)	E1738G	probably null	Het
Prr14l	T	C	5: 32,988,508 (GRCm39)	D329G	probably benign	Het
Ptpn23	G	T	9: 110,217,267 (GRCm39)	P863Q	probably damaging	Het
Ptpn23	G	T	9: 110,217,268 (GRCm39)	P863T	possibly damaging	Het
Ptprq	T	C	10: 107,479,896 (GRCm39)	K1125E	possibly damaging	Het
Rapgef2	T	G	3: 79,000,343 (GRCm39)	T351P	probably damaging	Het
Rbl2	A	G	8: 91,840,617 (GRCm39)	Y923C	probably damaging	Het
Rimbp3	T	C	16: 17,028,727 (GRCm39)	V717A	probably benign	Het
Rims1	C	T	1: 22,358,760 (GRCm39)	W182*	probably null	Het
Rnmt	A	G	18: 68,440,723 (GRCm39)	K129E	probably benign	Het
Ruvbl1	T	C	6: 88,450,108 (GRCm39)	F93S	probably damaging	Het
Scamp5	T	C	9: 57,350,969 (GRCm39)	Y231C	probably damaging	Het
Sfxn5	T	A	6: 85,244,921 (GRCm39)		probably null	Het
Skic2	A	T	17: 35,068,975 (GRCm39)	V8D	probably benign	Het
Slc12a1	T	C	2: 125,028,234 (GRCm39)	F510S	probably damaging	Het
Sowahb	T	C	5: 93,190,922 (GRCm39)	Y599C	probably damaging	Het
Speer4e1	T	C	5: 14,987,111 (GRCm39)	N98S	probably damaging	Het
Stat3	T	C	11: 100,784,807 (GRCm39)	N553S	probably benign	Het
Sult6b2	A	T	6: 142,735,868 (GRCm39)	L242Q	probably damaging	Het
Tuba4a	C	T	1: 75,193,595 (GRCm39)	R112H		Het
Ubr3	T	A	2: 69,819,220 (GRCm39)	S1337T	probably damaging	Het
Vmn2r69	A	T	7: 85,055,713 (GRCm39)	C808*	probably null	Het
Wnt16	G	A	6: 22,288,997 (GRCm39)	A105T	probably benign	Het
Zfp692	C	T	11: 58,198,560 (GRCm39)	S50L	probably damaging	Het

Other mutations in Tacc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00741:Tacc3	APN	5	33,826,984 (GRCm39)	missense	probably damaging	1.00
IGL00742:Tacc3	APN	5	33,818,578 (GRCm39)	missense	possibly damaging	0.86
IGL01390:Tacc3	APN	5	33,825,405 (GRCm39)	unclassified	probably benign
R0714:Tacc3	UTSW	5	33,828,741 (GRCm39)	splice site	probably benign
R1440:Tacc3	UTSW	5	33,825,321 (GRCm39)	missense	probably benign	0.01
R1480:Tacc3	UTSW	5	33,821,941 (GRCm39)	missense	probably benign	0.04
R1500:Tacc3	UTSW	5	33,818,652 (GRCm39)	missense	probably damaging	0.99
R1851:Tacc3	UTSW	5	33,825,544 (GRCm39)	missense	probably benign	0.03
R2136:Tacc3	UTSW	5	33,828,748 (GRCm39)	missense	probably damaging	1.00
R2433:Tacc3	UTSW	5	33,829,083 (GRCm39)	missense	possibly damaging	0.92
R4415:Tacc3	UTSW	5	33,824,028 (GRCm39)	splice site	probably null
R4576:Tacc3	UTSW	5	33,818,841 (GRCm39)	intron	probably benign
R4825:Tacc3	UTSW	5	33,829,357 (GRCm39)	missense	probably damaging	1.00
R4960:Tacc3	UTSW	5	33,829,326 (GRCm39)	missense	probably benign	0.30
R7121:Tacc3	UTSW	5	33,824,509 (GRCm39)	missense	possibly damaging	0.71
R7464:Tacc3	UTSW	5	33,818,628 (GRCm39)	missense	probably benign	0.12
R8425:Tacc3	UTSW	5	33,821,874 (GRCm39)	missense	unknown
R8722:Tacc3	UTSW	5	33,825,553 (GRCm39)	missense	probably damaging	1.00
R8809:Tacc3	UTSW	5	33,824,029 (GRCm39)	unclassified	probably benign
R8987:Tacc3	UTSW	5	33,826,169 (GRCm39)	missense	possibly damaging	0.67
R9485:Tacc3	UTSW	5	33,821,644 (GRCm39)	missense	possibly damaging	0.47
RF020:Tacc3	UTSW	5	33,818,568 (GRCm39)	start codon destroyed	probably null	0.53

Predicted Primers

PCR Primer
(F):5'- ATTCCAGCAGCCAGGTACTC -3'
(R):5'- GCTGGTGGCCTCTTCTACTATG -3'

Sequencing Primer
(F):5'- GGTACTCTTACCTCCAGAGAAAC -3'
(R):5'- AATTCACTATAGACTGGGCTGGCC -3'

Posted On

2020-06-30