Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02728:Tacc1'

305292

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tacc1

Ensembl Gene

ENSMUSG00000065954

Gene Name

transforming, acidic coiled-coil containing protein 1

Synonyms

4833447E04Rik, B230378H13Rik, Tacc1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.304) question?

Stock #

IGL02728

Quality Score

Status

Chromosome

Chromosomal Location

25644568-25730901 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25665235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 50 (D50G)

Ref Sequence

ENSEMBL: ENSMUSP00000147525 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084030
AA Change: D499G

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081043
Gene: ENSMUSG00000065954
AA Change: D499G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000084512
AA Change: D91G

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000081560
Gene: ENSMUSG00000065954
AA Change: D91G

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: D50G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000210767

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210933
AA Change: D61G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000211622

Coding Region Coverage

Validation Efficiency

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,073,880 (GRCm39)		probably benign	Het
Als2	A	G	1: 59,235,506 (GRCm39)	V726A	probably benign	Het
Apba1	G	A	19: 23,922,269 (GRCm39)	G779E	possibly damaging	Het
Atr	T	A	9: 95,818,528 (GRCm39)	V2167E	probably damaging	Het
Bod1l	T	C	5: 41,983,846 (GRCm39)	K566E	probably damaging	Het
Btd	T	C	14: 31,389,319 (GRCm39)	F347L	probably benign	Het
Btg2	T	C	1: 134,006,643 (GRCm39)		probably benign	Het
Cblb	T	A	16: 52,003,672 (GRCm39)	S717T	probably benign	Het
Cep250	T	A	2: 155,825,198 (GRCm39)		probably benign	Het
Cep350	T	C	1: 155,828,968 (GRCm39)	N312S	probably benign	Het
Clasp1	A	T	1: 118,530,107 (GRCm39)	T1490S	probably damaging	Het
Col7a1	T	A	9: 108,813,172 (GRCm39)	C2906S	probably benign	Het
Csmd1	C	T	8: 16,049,779 (GRCm39)		probably null	Het
Cspg4	T	A	9: 56,793,765 (GRCm39)	V500E	probably damaging	Het
Cyp7b1	T	A	3: 18,126,739 (GRCm39)	D469V	probably damaging	Het
Dhh	A	T	15: 98,792,192 (GRCm39)		probably null	Het
Dhrs3	A	G	4: 144,646,642 (GRCm39)	R231G	probably damaging	Het
Disp3	A	G	4: 148,356,495 (GRCm39)	S122P	probably damaging	Het
Dnah1	T	C	14: 31,005,955 (GRCm39)	I2275V	probably benign	Het
Dock8	A	C	19: 25,109,584 (GRCm39)	N922T	probably benign	Het
Eef1d	A	G	15: 75,774,945 (GRCm39)	L154P	probably damaging	Het
Eif4ebp1	C	A	8: 27,763,510 (GRCm39)	P101Q	possibly damaging	Het
Eif4g1	T	G	16: 20,505,502 (GRCm39)		probably benign	Het
Emb	A	G	13: 117,369,301 (GRCm39)	M50V	probably benign	Het
Eml4	T	C	17: 83,780,568 (GRCm39)		probably null	Het
Fkbp10	G	T	11: 100,306,803 (GRCm39)	R65L	probably damaging	Het
Gm5878	T	C	6: 85,095,574 (GRCm39)	N83S	probably benign	Het
Gm8165	C	T	14: 43,913,694 (GRCm39)	A57T	unknown	Het
Gpr179	A	G	11: 97,228,726 (GRCm39)	V1143A	probably damaging	Het
Hat1	T	C	2: 71,251,604 (GRCm39)	Y218H	probably damaging	Het
Hfm1	T	A	5: 107,026,689 (GRCm39)	N885I	probably benign	Het
Ift70a1	T	A	2: 75,811,193 (GRCm39)	M297L	probably benign	Het
Inha	T	C	1: 75,486,091 (GRCm39)	S129P	probably damaging	Het
Ints9	T	C	14: 65,230,457 (GRCm39)	I128T	probably damaging	Het
Klra9	T	C	6: 130,168,149 (GRCm39)		probably null	Het
Lrba	A	G	3: 86,683,356 (GRCm39)	E2726G	probably damaging	Het
Lrp1b	T	C	2: 40,691,410 (GRCm39)	N3356D	probably benign	Het
Map3k5	A	G	10: 19,994,038 (GRCm39)	D1008G	possibly damaging	Het
Med4	T	A	14: 73,755,415 (GRCm39)	L241Q	possibly damaging	Het
Mtch1	A	G	17: 29,557,716 (GRCm39)	V254A	possibly damaging	Het
Napg	C	T	18: 63,127,375 (GRCm39)		probably benign	Het
Or1j11	T	C	2: 36,312,156 (GRCm39)	S249P	possibly damaging	Het
Or5k1	C	T	16: 58,617,843 (GRCm39)	R122H	probably benign	Het
Or7g33	A	G	9: 19,449,142 (GRCm39)	F28S	possibly damaging	Het
Or8d2	T	C	9: 38,760,222 (GRCm39)	S271P	probably damaging	Het
Or9r3	T	A	10: 129,948,487 (GRCm39)	R57S	probably damaging	Het
Pias1	T	A	9: 62,830,926 (GRCm39)	S161C	probably damaging	Het
Pias1	G	T	9: 62,830,927 (GRCm39)	N160K	possibly damaging	Het
Pigp	G	A	16: 94,168,466 (GRCm39)	P37S	probably damaging	Het
Pik3c2b	T	A	1: 133,020,065 (GRCm39)	V1070E	probably benign	Het
Pramel51	G	T	12: 88,142,792 (GRCm39)	H275Q	probably benign	Het
Prepl	T	C	17: 85,378,010 (GRCm39)	T457A	probably damaging	Het
Psg23	G	A	7: 18,340,853 (GRCm39)	A467V	probably benign	Het
Rad54l	T	C	4: 115,980,146 (GRCm39)	R13G	probably benign	Het
Rassf5	T	C	1: 131,108,336 (GRCm39)	D248G	probably damaging	Het
Rspo1	A	G	4: 124,898,955 (GRCm39)	N92S	probably damaging	Het
Scube1	G	A	15: 83,543,217 (GRCm39)		probably benign	Het
Sec31b	C	A	19: 44,511,554 (GRCm39)	V616F	probably damaging	Het
Sema3a	T	C	5: 13,615,881 (GRCm39)	V435A	probably damaging	Het
Slc7a10	T	A	7: 34,897,123 (GRCm39)	I208N	probably damaging	Het
Stab2	A	T	10: 86,692,420 (GRCm39)	M2151K	possibly damaging	Het
Tas2r121	G	T	6: 132,677,480 (GRCm39)	T164N	probably damaging	Het
Tatdn2	T	C	6: 113,681,676 (GRCm39)	W570R	probably damaging	Het
Telo2	A	T	17: 25,323,628 (GRCm39)	F600I	probably damaging	Het
Trim36	T	A	18: 46,305,669 (GRCm39)	H426L	probably benign	Het
Trpm6	A	T	19: 18,787,016 (GRCm39)	N531Y	possibly damaging	Het
Ttc39a	T	C	4: 109,299,920 (GRCm39)	C470R	probably damaging	Het
Ttn	C	T	2: 76,615,283 (GRCm39)	E8485K	probably damaging	Het
Ubr4	A	T	4: 139,196,122 (GRCm39)	I1253F	probably damaging	Het
Unc79	A	T	12: 103,088,688 (GRCm39)	H1724L	possibly damaging	Het
Vmn1r40	T	A	6: 89,691,998 (GRCm39)	C89S	probably benign	Het
Wdr55	A	G	18: 36,896,435 (GRCm39)	E375G	probably benign	Het

Other mutations in Tacc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02142:Tacc1	APN	8	25,665,233 (GRCm39)	missense	probably damaging	1.00
IGL02273:Tacc1	APN	8	25,649,797 (GRCm39)	missense	probably damaging	1.00
IGL02738:Tacc1	APN	8	25,691,159 (GRCm39)	missense	probably damaging	1.00
R0194:Tacc1	UTSW	8	25,672,392 (GRCm39)	missense	probably benign	0.45
R0617:Tacc1	UTSW	8	25,668,020 (GRCm39)	splice site	probably benign
R1469:Tacc1	UTSW	8	25,672,271 (GRCm39)	missense	probably benign	0.00
R1469:Tacc1	UTSW	8	25,672,271 (GRCm39)	missense	probably benign	0.00
R1785:Tacc1	UTSW	8	25,654,509 (GRCm39)	missense	probably damaging	1.00
R1786:Tacc1	UTSW	8	25,654,509 (GRCm39)	missense	probably damaging	1.00
R1889:Tacc1	UTSW	8	25,665,269 (GRCm39)	missense	probably damaging	0.99
R2131:Tacc1	UTSW	8	25,654,509 (GRCm39)	missense	probably damaging	1.00
R2133:Tacc1	UTSW	8	25,654,509 (GRCm39)	missense	probably damaging	1.00
R2419:Tacc1	UTSW	8	25,672,829 (GRCm39)	missense	possibly damaging	0.90
R4740:Tacc1	UTSW	8	25,672,581 (GRCm39)	missense	possibly damaging	0.94
R4793:Tacc1	UTSW	8	25,672,405 (GRCm39)	missense	possibly damaging	0.96
R4911:Tacc1	UTSW	8	25,672,622 (GRCm39)	missense	possibly damaging	0.66
R5177:Tacc1	UTSW	8	25,691,237 (GRCm39)	missense	probably damaging	1.00
R5320:Tacc1	UTSW	8	25,671,881 (GRCm39)	missense	probably benign	0.31
R5377:Tacc1	UTSW	8	25,672,299 (GRCm39)	missense	possibly damaging	0.94
R5452:Tacc1	UTSW	8	25,654,431 (GRCm39)	missense	probably null	1.00
R5930:Tacc1	UTSW	8	25,672,215 (GRCm39)	missense	probably benign
R5952:Tacc1	UTSW	8	25,672,011 (GRCm39)	missense	possibly damaging	0.85
R6767:Tacc1	UTSW	8	25,730,816 (GRCm39)	start codon destroyed	probably null
R7200:Tacc1	UTSW	8	25,731,656 (GRCm39)	unclassified	probably benign
R7464:Tacc1	UTSW	8	25,654,480 (GRCm39)	missense	probably damaging	1.00
R7521:Tacc1	UTSW	8	25,665,268 (GRCm39)	missense	possibly damaging	0.82
R7599:Tacc1	UTSW	8	25,691,301 (GRCm39)	start codon destroyed	probably damaging	1.00
R8050:Tacc1	UTSW	8	25,659,230 (GRCm39)	missense	probably benign	0.12
R8205:Tacc1	UTSW	8	25,672,803 (GRCm39)	missense	probably benign	0.03
R8377:Tacc1	UTSW	8	25,672,299 (GRCm39)	missense	possibly damaging	0.68
R8418:Tacc1	UTSW	8	25,731,532 (GRCm39)	missense	probably damaging	1.00
R8780:Tacc1	UTSW	8	25,672,077 (GRCm39)	missense	probably benign	0.00
R9120:Tacc1	UTSW	8	25,659,255 (GRCm39)	missense	probably damaging	1.00
R9121:Tacc1	UTSW	8	25,659,255 (GRCm39)	missense	probably damaging	1.00
R9122:Tacc1	UTSW	8	25,659,255 (GRCm39)	missense	probably damaging	1.00
R9132:Tacc1	UTSW	8	25,672,151 (GRCm39)	missense	possibly damaging	0.71
R9238:Tacc1	UTSW	8	25,672,634 (GRCm39)	missense	probably benign	0.04

Posted On

2015-04-16