Mutagenetix > Incidental Mutation

Incidental Mutation 'R0714:Tacc3'

85901

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

038897-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0714 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33815472-33836339 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 33828741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000074849

SMART Domains

Protein: ENSMUSP00000074394
Gene: ENSMUSG00000037313

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

probably benign
Transcript: ENSMUST00000079534

SMART Domains

Protein: ENSMUSP00000078491
Gene: ENSMUSG00000037313

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: ENSMUST00000114426

SMART Domains

Protein: ENSMUSP00000110069
Gene: ENSMUSG00000037313

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

100% (52/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17b	G	A	19: 21,655,973 (GRCm39)	R85H	probably damaging	Het
Adamts13	A	G	2: 26,876,997 (GRCm39)		probably benign	Het
Alb	T	C	5: 90,610,665 (GRCm39)	S82P	possibly damaging	Het
Arhgap10	G	A	8: 78,078,316 (GRCm39)		probably benign	Het
Aspscr1	T	A	11: 120,594,493 (GRCm39)		probably null	Het
Capn3	A	T	2: 120,322,361 (GRCm39)	Q359L	probably benign	Het
Ccdc110	A	T	8: 46,396,047 (GRCm39)	D646V	possibly damaging	Het
Ccr2	G	A	9: 123,905,966 (GRCm39)	G82D	probably benign	Het
Col6a4	A	G	9: 105,895,102 (GRCm39)		probably benign	Het
Dhx29	T	C	13: 113,064,499 (GRCm39)	V58A	possibly damaging	Het
Dhx35	C	A	2: 158,686,103 (GRCm39)	Q593K	probably benign	Het
Dmd	T	C	X: 83,353,503 (GRCm39)	L2240P	probably benign	Het
Emc7	A	G	2: 112,293,277 (GRCm39)	N162S	possibly damaging	Het
Exoc7	A	T	11: 116,184,120 (GRCm39)	N483K	probably benign	Het
Fbxo34	T	C	14: 47,767,486 (GRCm39)	V282A	probably damaging	Het
Fndc3c1	A	T	X: 105,468,972 (GRCm39)	Y1087*	probably null	Het
Kat2a	A	G	11: 100,602,178 (GRCm39)	V192A	probably damaging	Het
Larp7	T	C	3: 127,340,833 (GRCm39)	D64G	probably damaging	Het
Lnx1	A	G	5: 74,768,570 (GRCm39)		probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Nckipsd	C	A	9: 108,691,333 (GRCm39)		probably benign	Het
Ndufab1	A	G	7: 121,695,960 (GRCm39)		probably benign	Het
Nedd4	G	A	9: 72,638,728 (GRCm39)		probably benign	Het
Nrsn2	G	A	2: 152,216,042 (GRCm39)	R54*	probably null	Het
Nt5dc3	T	A	10: 86,648,238 (GRCm39)	V171E	probably damaging	Het
Nudt8	A	G	19: 4,052,023 (GRCm39)	*211W	probably null	Het
Nxph4	A	G	10: 127,362,808 (GRCm39)	S28P	probably damaging	Het
Or4f14b	A	G	2: 111,774,898 (GRCm39)	V301A	probably benign	Het
Or8k17	A	C	2: 86,066,498 (GRCm39)	L227R	probably damaging	Het
Or9g4b	A	G	2: 85,616,743 (GRCm39)	D296G	probably damaging	Het
Pcdhb15	A	G	18: 37,607,674 (GRCm39)	Y302C	probably damaging	Het
Pkdrej	A	G	15: 85,699,712 (GRCm39)	S2075P	possibly damaging	Het
Sdhc	A	T	1: 170,957,488 (GRCm39)		probably benign	Het
Sidt2	A	G	9: 45,858,358 (GRCm39)		probably benign	Het
Sik2	T	C	9: 50,818,736 (GRCm39)	M413V	probably benign	Het
Slc5a4b	A	G	10: 75,917,341 (GRCm39)	F232L	probably benign	Het
Slx1b	A	T	7: 126,291,620 (GRCm39)	I148N	probably damaging	Het
Spag17	C	G	3: 99,987,472 (GRCm39)	S1587R	probably damaging	Het
St13	T	C	15: 81,267,228 (GRCm39)	D74G	probably benign	Het
St7l	G	A	3: 104,782,244 (GRCm39)	R207H	probably benign	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tbx22	G	A	X: 106,728,731 (GRCm39)	V421I	probably benign	Het
Tmc3	G	A	7: 83,265,969 (GRCm39)	A705T	possibly damaging	Het
Tmem130	C	T	5: 144,674,619 (GRCm39)	V369M	probably damaging	Het
Tonsl	T	C	15: 76,517,921 (GRCm39)		probably benign	Het
Trpm6	T	A	19: 18,815,451 (GRCm39)	I1179N	possibly damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Utp23	T	G	15: 51,745,665 (GRCm39)	V55G	possibly damaging	Het
Vps11	A	G	9: 44,270,953 (GRCm39)	V143A	possibly damaging	Het
Vps50	G	T	6: 3,571,105 (GRCm39)	V618F	probably benign	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
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
R8071:Tacc3	UTSW	5	33,821,169 (GRCm39)	missense	possibly damaging	0.92
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'- TCACTGTACCTGGAAAGTGGGATAGAC -3'
(R):5'- GCTACAAGGCAGGCAGACCG -3'

Sequencing Primer
(F):5'- tccactcaccccccacc -3'
(R):5'- Acctccctccctccctc -3'

Posted On

2013-11-18