Mutagenetix > Incidental Mutation

Incidental Mutation 'R1889:Tacc1'

209832

Institutional Source

Beutler Lab

Gene Symbol

Tacc1

Ensembl Gene

ENSMUSG00000065954

Gene Name

transforming, acidic coiled-coil containing protein 1

Synonyms

4833447E04Rik, B230378H13Rik, Tacc1

MMRRC Submission

039910-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

R1889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25154552-25256588 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25175253 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 488 (V488M)

Ref Sequence

ENSEMBL: ENSMUSP00000081043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084030] [ENSMUST00000084512] [ENSMUST00000210016] [ENSMUST00000210767] [ENSMUST00000210933] [ENSMUST00000211622]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000084030
AA Change: V488M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081043
Gene: ENSMUSG00000065954
AA Change: V488M

Domain	Start	End	E-Value	Type
low complexity region	24	45	N/A	INTRINSIC
Pfam:TACC	569	769	3.6e-84	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084512
AA Change: V80M

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081560
Gene: ENSMUSG00000065954
AA Change: V80M

Domain	Start	End	E-Value	Type
low complexity region	24	45	N/A	INTRINSIC
Pfam:TACC	160	366	3.5e-82	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000210016
AA Change: V39M

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000210767

Predicted Effect

probably damaging
Transcript: ENSMUST00000210933
AA Change: V50M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000211622

Meta Mutation Damage Score

0.0774

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.6%
20x: 88.0%

Validation Efficiency

97% (103/106)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus may represent a breast cancer candidate gene. It is located close to FGFR1 on a region of chromosome 8 that is amplified in some breast cancers. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	A	G	9: 89,152,762		noncoding transcript	Het
9130008F23Rik	T	C	17: 40,880,302	R79G	probably damaging	Het
Aco1	A	T	4: 40,164,607		probably null	Het
Acp6	C	T	3: 97,165,885	R81W	probably damaging	Het
Agbl1	A	C	7: 76,589,381	Y543S	probably damaging	Het
Anapc7	T	C	5: 122,433,476	W205R	probably damaging	Het
Ap1g2	T	A	14: 55,101,429	M532L	probably damaging	Het
Appl1	A	G	14: 26,925,513		probably benign	Het
Arhgef19	T	C	4: 141,249,313	F462S	probably damaging	Het
Astn1	A	G	1: 158,505,316		probably null	Het
AU015836	T	C	X: 93,969,379		probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Cadm2	T	C	16: 66,882,795	D50G	probably damaging	Het
Ccdc81	G	A	7: 89,882,294	Q324*	probably null	Het
Cd300lf	A	G	11: 115,120,380	V178A	probably benign	Het
Cdt1	T	C	8: 122,572,052	V476A	possibly damaging	Het
Cenpj	A	G	14: 56,558,725	V225A	probably benign	Het
Cep295	T	C	9: 15,332,103	T1686A	possibly damaging	Het
Cfap54	A	G	10: 93,034,710	S684P	possibly damaging	Het
Clip1	C	A	5: 123,653,496	V204F	probably damaging	Het
Cnpy4	A	G	5: 138,192,840	E226G	probably benign	Het
Col6a3	T	A	1: 90,803,711	M1000L	probably benign	Het
Cpsf1	T	C	15: 76,602,156	M335V	probably benign	Het
Dnmt3b	C	A	2: 153,676,759	A614E	probably benign	Het
Dpm1	C	T	2: 168,217,735	R147Q	possibly damaging	Het
Dpp7	G	T	2: 25,353,679		probably null	Het
Engase	T	C	11: 118,478,933	F57S	probably damaging	Het
Epb41l5	T	C	1: 119,549,172	D718G	possibly damaging	Het
Fam20a	T	C	11: 109,673,554	K458E	probably benign	Het
Fbxo44	C	G	4: 148,156,269	R220S	probably damaging	Het
Gkn2	T	A	6: 87,378,155	Y115*	probably null	Het
Gtdc1	A	G	2: 44,591,914	S246P	probably damaging	Het
H2-Q2	A	G	17: 35,345,176	D302G	probably benign	Het
Herc2	C	T	7: 56,189,813	S3357L	possibly damaging	Het
Herc6	T	A	6: 57,662,075	Y840*	probably null	Het
Hoxa10	GGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTG	6: 52,234,492		probably benign	Het
Ift122	T	C	6: 115,894,421		probably null	Het
Ilf3	T	A	9: 21,404,767		probably benign	Het
Itgb2	A	T	10: 77,548,623	N193Y	possibly damaging	Het
Itgb5	T	G	16: 33,910,469	I65S	probably damaging	Het
Jpt2	T	C	17: 24,960,611	M1V	probably null	Het
Kcnt2	A	T	1: 140,584,293	H995L	probably damaging	Het
Kif20b	T	C	19: 34,941,208		probably benign	Het
Kif7	T	C	7: 79,710,463	Y342C	probably damaging	Het
Klhl21	T	C	4: 152,015,420	V529A	possibly damaging	Het
Klhl26	T	C	8: 70,451,733	D475G	probably damaging	Het
Lcor	T	C	19: 41,559,128	Y384H	probably damaging	Het
Lrp1b	A	T	2: 40,919,167	C2463*	probably null	Het
March6	T	C	15: 31,459,193	E909G	possibly damaging	Het
Mrc1	A	T	2: 14,308,677		probably null	Het
Nipal4	T	A	11: 46,150,733	I212F	probably damaging	Het
Nup98	T	A	7: 102,160,716	T536S	probably damaging	Het
Nwd2	A	G	5: 63,807,666	E1531G	possibly damaging	Het
Nxpe2	T	C	9: 48,326,614	T114A	probably damaging	Het
Olfr204	T	G	16: 59,314,963	Y148S	probably damaging	Het
Oosp1	C	T	19: 11,667,794	V169I	possibly damaging	Het
Opa1	T	C	16: 29,625,585	V863A	possibly damaging	Het
Pabpc4l	A	T	3: 46,446,363	M282K	probably benign	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pcnx3	T	C	19: 5,672,656	D1336G	probably damaging	Het
Phlpp1	T	C	1: 106,318,850	V590A	possibly damaging	Het
Rbck1	T	A	2: 152,318,356	T468S	probably damaging	Het
Ripor2	T	A	13: 24,693,887	I290N	probably damaging	Het
Rnf139	T	C	15: 58,899,497	L457P	probably damaging	Het
Rtn1	C	A	12: 72,304,410	A342S	possibly damaging	Het
Sema3d	A	G	5: 12,485,021		probably null	Het
Serpinb2	T	A	1: 107,524,607	V305D	probably damaging	Het
Sez6l2	T	C	7: 126,953,496	V148A	probably damaging	Het
Shank2	C	A	7: 144,186,858	S568*	probably null	Het
Skiv2l2	T	C	13: 112,887,490	N707S	probably benign	Het
Slc10a4	T	C	5: 73,012,147	S372P	possibly damaging	Het
Slc10a5	T	C	3: 10,335,490	T37A	probably benign	Het
Slc14a1	T	C	18: 78,109,697	I276V	possibly damaging	Het
Slc6a20b	G	T	9: 123,632,204	D52E	probably benign	Het
Slc6a5	T	C	7: 49,951,434	M661T	probably benign	Het
Ssh2	C	G	11: 77,449,745	D574E	probably damaging	Het
Steap4	G	T	5: 7,975,892	R151L	probably damaging	Het
Sun5	T	A	2: 153,865,995	I107L	probably benign	Het
Tgs1	A	G	4: 3,614,928	T829A	probably benign	Het
Tnxb	A	G	17: 34,695,825	E1929G	probably damaging	Het
Tssc4	A	C	7: 143,070,555	Q200P	probably damaging	Het
Ttn	A	G	2: 76,758,532	W21398R	probably damaging	Het
Usp50	C	T	2: 126,777,898		probably null	Het
Usp9y	A	T	Y: 1,448,829		probably null	Het
V1rd19	T	A	7: 24,003,207	F33I	probably benign	Het
Zfat	T	C	15: 68,101,539	T1118A	probably benign	Het

Other mutations in Tacc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02142:Tacc1	APN	8	25175217	missense	probably damaging	1.00
IGL02273:Tacc1	APN	8	25159781	missense	probably damaging	1.00
IGL02728:Tacc1	APN	8	25175219	missense	probably damaging	1.00
IGL02738:Tacc1	APN	8	25201143	missense	probably damaging	1.00
R0194:Tacc1	UTSW	8	25182376	missense	probably benign	0.45
R0617:Tacc1	UTSW	8	25178004	splice site	probably benign
R1469:Tacc1	UTSW	8	25182255	missense	probably benign	0.00
R1469:Tacc1	UTSW	8	25182255	missense	probably benign	0.00
R1785:Tacc1	UTSW	8	25164493	missense	probably damaging	1.00
R1786:Tacc1	UTSW	8	25164493	missense	probably damaging	1.00
R2131:Tacc1	UTSW	8	25164493	missense	probably damaging	1.00
R2133:Tacc1	UTSW	8	25164493	missense	probably damaging	1.00
R2419:Tacc1	UTSW	8	25182813	missense	possibly damaging	0.90
R4740:Tacc1	UTSW	8	25182565	missense	possibly damaging	0.94
R4793:Tacc1	UTSW	8	25182389	missense	possibly damaging	0.96
R4911:Tacc1	UTSW	8	25182606	missense	possibly damaging	0.66
R5177:Tacc1	UTSW	8	25201221	missense	probably damaging	1.00
R5320:Tacc1	UTSW	8	25181865	missense	probably benign	0.31
R5377:Tacc1	UTSW	8	25182283	missense	possibly damaging	0.94
R5452:Tacc1	UTSW	8	25164415	missense	probably null	1.00
R5930:Tacc1	UTSW	8	25182199	missense	probably benign
R5952:Tacc1	UTSW	8	25181995	missense	possibly damaging	0.85
R6767:Tacc1	UTSW	8	25240800	start codon destroyed	probably null
R7200:Tacc1	UTSW	8	25241640	unclassified	probably benign
R7464:Tacc1	UTSW	8	25164464	missense	probably damaging	1.00
R7521:Tacc1	UTSW	8	25175252	missense	possibly damaging	0.82
R7599:Tacc1	UTSW	8	25201285	start codon destroyed	probably damaging	1.00
R8050:Tacc1	UTSW	8	25169214	missense	probably benign	0.12
R8205:Tacc1	UTSW	8	25182787	missense	probably benign	0.03
R8377:Tacc1	UTSW	8	25182283	missense	possibly damaging	0.68
R8418:Tacc1	UTSW	8	25241516	missense	probably damaging	1.00
R8780:Tacc1	UTSW	8	25182061	missense	probably benign	0.00
R9120:Tacc1	UTSW	8	25169239	missense	probably damaging	1.00
R9121:Tacc1	UTSW	8	25169239	missense	probably damaging	1.00
R9122:Tacc1	UTSW	8	25169239	missense	probably damaging	1.00
R9132:Tacc1	UTSW	8	25182135	missense	possibly damaging	0.71
R9238:Tacc1	UTSW	8	25182618	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGTACCTGCTCCTGAGGATG -3'
(R):5'- GTTCTAGAAACAACAGCATCTCTGG -3'

Sequencing Primer
(F):5'- TGTACCTGCTCCTGAGGATGAAAAC -3'
(R):5'- CAACAGCATCTCTGGTTTGAAGG -3'

Posted On

2014-06-30