Mutagenetix > Incidental Mutation

Incidental Mutation 'R7766:Tacc2'

598244

Institutional Source

Beutler Lab

Gene Symbol

Tacc2

Ensembl Gene

ENSMUSG00000030852

Gene Name

transforming, acidic coiled-coil containing protein 2

Synonyms

MMRRC Submission

045822-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7766 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130179168-130366515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130345328 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 2582 (H2582Y)

Ref Sequence

ENSEMBL: ENSMUSP00000081561 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033141] [ENSMUST00000059145] [ENSMUST00000084513] [ENSMUST00000124096] [ENSMUST00000207282] [ENSMUST00000207376] [ENSMUST00000207395] [ENSMUST00000207549] [ENSMUST00000207789] [ENSMUST00000208722] [ENSMUST00000208743] [ENSMUST00000209108]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033141
AA Change: H739Y

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000033141
Gene: ENSMUSG00000030852
AA Change: H739Y

Domain	Start	End	E-Value	Type
low complexity region	37	63	N/A	INTRINSIC
internal_repeat_1	71	181	1.04e-5	PROSPERO
low complexity region	235	246	N/A	INTRINSIC
internal_repeat_2	258	345	6.53e-5	PROSPERO
internal_repeat_1	373	456	1.04e-5	PROSPERO
low complexity region	461	476	N/A	INTRINSIC
low complexity region	493	504	N/A	INTRINSIC
low complexity region	538	552	N/A	INTRINSIC
internal_repeat_2	629	716	6.53e-5	PROSPERO
coiled coil region	763	790	N/A	INTRINSIC
Pfam:TACC	829	1035	3.4e-85	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059145
AA Change: H849Y

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061242
Gene: ENSMUSG00000030852
AA Change: H849Y

Domain	Start	End	E-Value	Type
low complexity region	87	102	N/A	INTRINSIC
low complexity region	147	173	N/A	INTRINSIC
internal_repeat_1	181	291	2.03e-5	PROSPERO
low complexity region	345	356	N/A	INTRINSIC
internal_repeat_1	483	566	2.03e-5	PROSPERO
low complexity region	571	586	N/A	INTRINSIC
low complexity region	603	614	N/A	INTRINSIC
low complexity region	648	662	N/A	INTRINSIC
coiled coil region	873	900	N/A	INTRINSIC
Pfam:TACC	939	1145	4e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000084513
AA Change: H2582Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081561
Gene: ENSMUSG00000030852
AA Change: H2582Y

Domain	Start	End	E-Value	Type
internal_repeat_1	19	346	3.83e-6	PROSPERO
low complexity region	398	410	N/A	INTRINSIC
low complexity region	413	431	N/A	INTRINSIC
internal_repeat_1	778	1068	3.83e-6	PROSPERO
low complexity region	1397	1415	N/A	INTRINSIC
low complexity region	1723	1739	N/A	INTRINSIC
low complexity region	1794	1809	N/A	INTRINSIC
low complexity region	1854	1880	N/A	INTRINSIC
low complexity region	2052	2063	N/A	INTRINSIC
low complexity region	2278	2293	N/A	INTRINSIC
low complexity region	2310	2321	N/A	INTRINSIC
low complexity region	2355	2369	N/A	INTRINSIC
coiled coil region	2606	2633	N/A	INTRINSIC
Pfam:TACC	2673	2873	6.1e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000207282

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207376
AA Change: H399Y

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000207395

Predicted Effect

probably benign
Transcript: ENSMUST00000207549

Predicted Effect

probably benign
Transcript: ENSMUST00000207789

Predicted Effect

probably damaging
Transcript: ENSMUST00000208722
AA Change: H849Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208743
AA Change: H739Y

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000209108

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: This gene encodes a member of the transforming, acidic coiled-coil (TACC) family of proteins. Members of this family are centrosomal proteins that interact with microtubules and tubulin. TACC proteins are thought to be involved in centrosome/mitotic spindle dynamics and gene regulation. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are healthy and fertile and do not display any increase in tumorigenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,615,300 (GRCm39)	F58S	probably benign	Het
Abca2	T	A	2: 25,331,540 (GRCm39)	M1309K	probably benign	Het
Ascc1	A	T	10: 59,840,641 (GRCm39)	M1L	probably damaging	Het
Ccdc85b	A	T	19: 5,506,880 (GRCm39)	S182R	probably damaging	Het
Cnpy3	G	T	17: 47,048,161 (GRCm39)	Q185K	possibly damaging	Het
Cyp3a41a	A	G	5: 145,654,827 (GRCm39)	Y25H	probably damaging	Het
Dscam	A	T	16: 96,592,101 (GRCm39)	F725I	probably benign	Het
Duox1	T	C	2: 122,167,782 (GRCm39)	F1022L	probably benign	Het
Ednrb	A	G	14: 104,080,725 (GRCm39)	L63P	probably benign	Het
Egr4	C	T	6: 85,489,181 (GRCm39)	G293D	probably damaging	Het
Fv1	T	A	4: 147,953,727 (GRCm39)	F98I	possibly damaging	Het
Gfm2	C	T	13: 97,286,908 (GRCm39)	S169F	probably damaging	Het
Hexim2	C	G	11: 103,029,838 (GRCm39)	P297A	probably benign	Het
Hnrnpab	G	A	11: 51,492,293 (GRCm39)	T314I	unknown	Het
Ift88	T	C	14: 57,685,111 (GRCm39)	F309S	possibly damaging	Het
Ins2	T	A	7: 142,232,494 (GRCm39)	T97S	probably benign	Het
Itga2	T	C	13: 114,990,427 (GRCm39)	I905V	probably benign	Het
Itgb8	T	C	12: 119,127,094 (GRCm39)	Y720C	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kcna6	T	A	6: 126,716,682 (GRCm39)	D69V	probably damaging	Het
Kcp	A	G	6: 29,496,846 (GRCm39)	C588R	probably damaging	Het
Lrrc17	A	T	5: 21,766,042 (GRCm39)	T175S	probably benign	Het
Morc2b	A	T	17: 33,357,397 (GRCm39)	M125K	probably benign	Het
Ms4a4b	A	C	19: 11,427,352 (GRCm39)	M24L	probably benign	Het
Myh13	A	C	11: 67,249,155 (GRCm39)	S1292R	probably benign	Het
Nat10	T	C	2: 103,556,052 (GRCm39)	D923G	probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nipbl	T	C	15: 8,326,333 (GRCm39)	I2425M	probably benign	Het
Oasl1	G	T	5: 115,075,169 (GRCm39)	A410S	probably damaging	Het
Or52d1	T	A	7: 103,756,201 (GRCm39)	C238*	probably null	Het
Or5p80	C	T	7: 108,229,583 (GRCm39)	S128F	probably benign	Het
Or9g4b	T	A	2: 85,616,002 (GRCm39)	I49N	probably damaging	Het
Padi6	T	C	4: 140,458,286 (GRCm39)	K507E	probably benign	Het
Pdcl2	T	C	5: 76,465,743 (GRCm39)	N159S	probably benign	Het
Pla2g4a	T	C	1: 149,736,809 (GRCm39)	K445E	probably benign	Het
Plxnb2	A	G	15: 89,045,474 (GRCm39)	S1028P	probably benign	Het
Polb	T	C	8: 23,143,107 (GRCm39)	S30G	probably benign	Het
Pramel23	T	A	4: 143,425,809 (GRCm39)	I45F	probably damaging	Het
Slc17a6	A	T	7: 51,318,914 (GRCm39)	I519F	probably benign	Het
Tmem176a	A	T	6: 48,821,116 (GRCm39)		probably null	Het
Tnr	A	T	1: 159,715,880 (GRCm39)	T881S	probably benign	Het
Trp63	A	T	16: 25,686,969 (GRCm39)	R394S	probably damaging	Het
Tsga8	A	G	X: 82,530,704 (GRCm39)	L135P	unknown	Het
Ttn	T	C	2: 76,645,042 (GRCm39)	T12938A	probably damaging	Het
Ugt2b35	A	T	5: 87,149,061 (GRCm39)	D104V	possibly damaging	Het
Usp28	T	C	9: 48,947,183 (GRCm39)	S835P	probably damaging	Het
Vmn2r44	A	T	7: 8,371,219 (GRCm39)	V609E	probably damaging	Het
Zfp180	A	G	7: 23,804,084 (GRCm39)	S168G	probably benign	Het

Other mutations in Tacc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Tacc2	APN	7	130,360,898 (GRCm39)	missense	probably damaging	1.00
IGL01396:Tacc2	APN	7	130,360,919 (GRCm39)	missense	probably damaging	0.98
IGL01621:Tacc2	APN	7	130,331,498 (GRCm39)	missense	probably damaging	0.99
IGL02000:Tacc2	APN	7	130,330,898 (GRCm39)	splice site	probably null
IGL02075:Tacc2	APN	7	130,330,582 (GRCm39)	missense	probably benign	0.03
IGL02201:Tacc2	APN	7	130,227,942 (GRCm39)	missense	possibly damaging	0.84
IGL02205:Tacc2	APN	7	130,228,412 (GRCm39)	missense	probably damaging	1.00
IGL02399:Tacc2	APN	7	130,225,129 (GRCm39)	missense	probably benign	0.15
IGL02456:Tacc2	APN	7	130,227,991 (GRCm39)	missense	probably benign	0.35
IGL02559:Tacc2	APN	7	130,360,997 (GRCm39)	missense	probably damaging	1.00
IGL02734:Tacc2	APN	7	130,227,829 (GRCm39)	missense	probably damaging	0.98
IGL02800:Tacc2	APN	7	130,225,809 (GRCm39)	missense	probably benign	0.40
IGL02938:Tacc2	APN	7	130,330,671 (GRCm39)	missense	probably damaging	1.00
IGL03031:Tacc2	APN	7	130,225,585 (GRCm39)	missense	possibly damaging	0.94
IGL03278:Tacc2	APN	7	130,335,298 (GRCm39)	critical splice donor site	probably null
IGL03283:Tacc2	APN	7	130,343,996 (GRCm39)	missense	possibly damaging	0.47
IGL03371:Tacc2	APN	7	130,227,791 (GRCm39)	missense	possibly damaging	0.90
aces	UTSW	7	130,335,258 (GRCm39)	missense	probably damaging	1.00
Jacks	UTSW	7	130,227,494 (GRCm39)	missense	probably damaging	0.98
kings	UTSW	7	130,225,213 (GRCm39)	missense	probably damaging	0.96
R0002:Tacc2	UTSW	7	130,223,515 (GRCm39)	missense	probably damaging	0.99
R0119:Tacc2	UTSW	7	130,223,605 (GRCm39)	missense	probably damaging	0.98
R0244:Tacc2	UTSW	7	130,353,555 (GRCm39)	splice site	probably benign
R0619:Tacc2	UTSW	7	130,318,483 (GRCm39)	missense	probably damaging	1.00
R0624:Tacc2	UTSW	7	130,179,239 (GRCm39)	missense	probably damaging	0.99
R0632:Tacc2	UTSW	7	130,227,325 (GRCm39)	nonsense	probably null
R1015:Tacc2	UTSW	7	130,225,795 (GRCm39)	missense	probably benign
R1081:Tacc2	UTSW	7	130,330,304 (GRCm39)	missense	possibly damaging	0.46
R1086:Tacc2	UTSW	7	130,228,227 (GRCm39)	missense	possibly damaging	0.94
R1351:Tacc2	UTSW	7	130,264,733 (GRCm39)	intron	probably benign
R1538:Tacc2	UTSW	7	130,227,149 (GRCm39)	missense	probably benign	0.03
R1743:Tacc2	UTSW	7	130,228,328 (GRCm39)	nonsense	probably null
R1771:Tacc2	UTSW	7	130,343,970 (GRCm39)	missense	probably damaging	1.00
R1876:Tacc2	UTSW	7	130,225,475 (GRCm39)	missense	probably benign	0.38
R1893:Tacc2	UTSW	7	130,227,055 (GRCm39)	missense	probably benign	0.01
R1899:Tacc2	UTSW	7	130,225,932 (GRCm39)	missense	possibly damaging	0.81
R2005:Tacc2	UTSW	7	130,333,280 (GRCm39)	missense	probably damaging	1.00
R2131:Tacc2	UTSW	7	130,223,587 (GRCm39)	missense	possibly damaging	0.90
R2338:Tacc2	UTSW	7	130,335,299 (GRCm39)	splice site	probably null
R2407:Tacc2	UTSW	7	130,223,770 (GRCm39)	missense	possibly damaging	0.65
R3051:Tacc2	UTSW	7	130,227,226 (GRCm39)	missense	possibly damaging	0.81
R3052:Tacc2	UTSW	7	130,227,226 (GRCm39)	missense	possibly damaging	0.81
R3053:Tacc2	UTSW	7	130,227,226 (GRCm39)	missense	possibly damaging	0.81
R3116:Tacc2	UTSW	7	130,360,979 (GRCm39)	missense	probably damaging	1.00
R3412:Tacc2	UTSW	7	130,336,724 (GRCm39)	missense	probably benign	0.02
R3683:Tacc2	UTSW	7	130,226,800 (GRCm39)	missense	probably benign	0.40
R3685:Tacc2	UTSW	7	130,226,800 (GRCm39)	missense	probably benign	0.40
R3872:Tacc2	UTSW	7	130,224,152 (GRCm39)	missense	probably benign	0.02
R4063:Tacc2	UTSW	7	130,330,852 (GRCm39)	missense	probably damaging	0.97
R4410:Tacc2	UTSW	7	130,343,941 (GRCm39)	missense	possibly damaging	0.80
R4434:Tacc2	UTSW	7	130,225,271 (GRCm39)	missense	probably damaging	0.96
R4438:Tacc2	UTSW	7	130,225,271 (GRCm39)	missense	probably damaging	0.96
R4618:Tacc2	UTSW	7	130,227,946 (GRCm39)	missense	probably benign	0.10
R4674:Tacc2	UTSW	7	130,226,591 (GRCm39)	missense	possibly damaging	0.75
R4742:Tacc2	UTSW	7	130,227,697 (GRCm39)	missense	probably benign	0.00
R4934:Tacc2	UTSW	7	130,330,318 (GRCm39)	missense	probably damaging	1.00
R4947:Tacc2	UTSW	7	130,227,629 (GRCm39)	missense	probably damaging	0.98
R4964:Tacc2	UTSW	7	130,330,507 (GRCm39)	missense	probably damaging	1.00
R4966:Tacc2	UTSW	7	130,330,507 (GRCm39)	missense	probably damaging	1.00
R4967:Tacc2	UTSW	7	130,225,678 (GRCm39)	missense	probably damaging	0.99
R5052:Tacc2	UTSW	7	130,336,744 (GRCm39)	missense	probably damaging	1.00
R5276:Tacc2	UTSW	7	130,331,047 (GRCm39)	missense	probably damaging	1.00
R5330:Tacc2	UTSW	7	130,335,258 (GRCm39)	missense	probably damaging	1.00
R5331:Tacc2	UTSW	7	130,335,258 (GRCm39)	missense	probably damaging	1.00
R5372:Tacc2	UTSW	7	130,224,990 (GRCm39)	missense	probably benign	0.09
R5556:Tacc2	UTSW	7	130,276,336 (GRCm39)	missense	probably damaging	0.97
R5645:Tacc2	UTSW	7	130,225,781 (GRCm39)	missense	possibly damaging	0.80
R5886:Tacc2	UTSW	7	130,330,850 (GRCm39)	missense	probably benign	0.18
R5996:Tacc2	UTSW	7	130,225,213 (GRCm39)	missense	probably damaging	0.96
R6074:Tacc2	UTSW	7	130,227,165 (GRCm39)	missense	possibly damaging	0.92
R6127:Tacc2	UTSW	7	130,227,845 (GRCm39)	missense	possibly damaging	0.92
R6156:Tacc2	UTSW	7	130,227,494 (GRCm39)	missense	probably damaging	0.98
R6298:Tacc2	UTSW	7	130,228,255 (GRCm39)	missense	probably benign	0.26
R6444:Tacc2	UTSW	7	130,225,142 (GRCm39)	missense	possibly damaging	0.46
R6533:Tacc2	UTSW	7	130,224,567 (GRCm39)	missense	possibly damaging	0.94
R6724:Tacc2	UTSW	7	130,330,492 (GRCm39)	missense	probably damaging	1.00
R7111:Tacc2	UTSW	7	130,330,618 (GRCm39)	missense	probably benign	0.16
R7150:Tacc2	UTSW	7	130,330,807 (GRCm39)	missense	probably benign
R7290:Tacc2	UTSW	7	130,331,103 (GRCm39)	missense	probably benign	0.07
R7404:Tacc2	UTSW	7	130,225,066 (GRCm39)	missense	probably benign	0.22
R7460:Tacc2	UTSW	7	130,226,363 (GRCm39)	missense	probably benign	0.39
R7651:Tacc2	UTSW	7	130,224,884 (GRCm39)	missense	probably benign	0.25
R7666:Tacc2	UTSW	7	130,318,544 (GRCm39)	start gained	probably benign
R7695:Tacc2	UTSW	7	130,330,633 (GRCm39)	missense	probably benign	0.08
R7793:Tacc2	UTSW	7	130,224,843 (GRCm39)	missense	probably benign	0.34
R7861:Tacc2	UTSW	7	130,227,161 (GRCm39)	missense	probably benign	0.00
R8204:Tacc2	UTSW	7	130,226,159 (GRCm39)	missense	probably damaging	0.97
R8244:Tacc2	UTSW	7	130,330,406 (GRCm39)	missense	probably damaging	1.00
R8245:Tacc2	UTSW	7	130,331,303 (GRCm39)	missense	probably damaging	1.00
R8283:Tacc2	UTSW	7	130,227,034 (GRCm39)	missense	probably benign	0.02
R8348:Tacc2	UTSW	7	130,225,019 (GRCm39)	missense	possibly damaging	0.84
R8369:Tacc2	UTSW	7	130,223,888 (GRCm39)	missense	probably damaging	0.98
R8381:Tacc2	UTSW	7	130,225,972 (GRCm39)	missense	probably benign	0.00
R8804:Tacc2	UTSW	7	130,294,693 (GRCm39)	missense	probably benign
R8809:Tacc2	UTSW	7	130,276,421 (GRCm39)	missense	possibly damaging	0.94
R8835:Tacc2	UTSW	7	130,228,258 (GRCm39)	missense	probably benign	0.00
R8880:Tacc2	UTSW	7	130,318,564 (GRCm39)	missense	possibly damaging	0.86
R8918:Tacc2	UTSW	7	130,227,823 (GRCm39)	missense	probably benign	0.00
R8936:Tacc2	UTSW	7	130,228,367 (GRCm39)	missense	possibly damaging	0.94
R8953:Tacc2	UTSW	7	130,227,487 (GRCm39)	missense	probably benign	0.00
R9026:Tacc2	UTSW	7	130,225,266 (GRCm39)	missense	probably damaging	1.00
R9193:Tacc2	UTSW	7	130,228,304 (GRCm39)	missense	probably benign	0.04
R9221:Tacc2	UTSW	7	130,226,209 (GRCm39)	missense	probably benign	0.00
R9221:Tacc2	UTSW	7	130,226,058 (GRCm39)	missense	probably damaging	0.98
R9222:Tacc2	UTSW	7	130,227,985 (GRCm39)	missense	probably benign	0.00
R9264:Tacc2	UTSW	7	130,228,533 (GRCm39)	missense	probably damaging	1.00
R9312:Tacc2	UTSW	7	130,223,978 (GRCm39)	missense	probably benign	0.00
R9380:Tacc2	UTSW	7	130,226,771 (GRCm39)	missense	possibly damaging	0.86
R9515:Tacc2	UTSW	7	130,366,041 (GRCm39)	missense	probably damaging	1.00
R9705:Tacc2	UTSW	7	130,361,018 (GRCm39)	missense	probably damaging	1.00
X0010:Tacc2	UTSW	7	130,336,787 (GRCm39)	missense	probably damaging	1.00
Z1176:Tacc2	UTSW	7	130,346,327 (GRCm39)	missense	probably damaging	1.00
Z1176:Tacc2	UTSW	7	130,226,000 (GRCm39)	missense	possibly damaging	0.59
Z1176:Tacc2	UTSW	7	130,225,100 (GRCm39)	missense	probably benign	0.01
Z1177:Tacc2	UTSW	7	130,336,679 (GRCm39)	missense	possibly damaging	0.96
Z1177:Tacc2	UTSW	7	130,227,504 (GRCm39)	missense	probably damaging	0.99
Z1177:Tacc2	UTSW	7	130,226,710 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTCTCTTTAGTCTTAATGCAGCAC -3'
(R):5'- CAGTGTCTGAGAGGAAACCAC -3'

Sequencing Primer
(F):5'- AGTCTTAATGCAGCACTGTGC -3'
(R):5'- GAGGAAACCACTTTGTTTGGAAC -3'

Posted On

2019-11-26