Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02205:Tacc2'

284454

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tacc2

Ensembl Gene

ENSMUSG00000030852

Gene Name

transforming, acidic coiled-coil containing protein 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02205

Quality Score

Status

Chromosome

Chromosomal Location

130179168-130366515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130228412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1718 (D1718V)

Ref Sequence

ENSEMBL: ENSMUSP00000149733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059145] [ENSMUST00000084513] [ENSMUST00000124096] [ENSMUST00000207789] [ENSMUST00000207918] [ENSMUST00000208722] [ENSMUST00000215492]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059145

SMART Domains

Protein: ENSMUSP00000061242
Gene: ENSMUSG00000030852

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: D1699V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081561
Gene: ENSMUSG00000030852
AA Change: D1699V

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: ENSMUST00000207789

Predicted Effect

probably damaging
Transcript: ENSMUST00000207918
AA Change: D1699V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207999

Predicted Effect

probably benign
Transcript: ENSMUST00000208722

Predicted Effect

probably damaging
Transcript: ENSMUST00000215492
AA Change: D1718V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	T	G	11: 117,725,982 (GRCm39)	L150R	probably damaging	Het
Ankrd27	T	G	7: 35,316,364 (GRCm39)	D543E	probably damaging	Het
Anks1b	T	G	10: 89,906,956 (GRCm39)	L258V	probably benign	Het
Cacna1i	T	C	15: 80,257,152 (GRCm39)	F1087S	probably benign	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Cmip	G	A	8: 118,181,714 (GRCm39)	V674I	probably damaging	Het
Col4a2	C	T	8: 11,481,305 (GRCm39)	Q826*	probably null	Het
Ctdsp1	C	T	1: 74,432,993 (GRCm39)	A92V	possibly damaging	Het
Dnajc10	T	A	2: 80,179,702 (GRCm39)	S745R	possibly damaging	Het
Dpp4	T	C	2: 62,182,601 (GRCm39)	Y560C	probably damaging	Het
Fbxl6	A	G	15: 76,421,541 (GRCm39)	M232T	probably benign	Het
Gm5414	A	G	15: 101,534,304 (GRCm39)	F267L	probably benign	Het
Heatr5a	A	G	12: 51,924,120 (GRCm39)	I2031T	probably damaging	Het
Hmcn2	T	G	2: 31,290,139 (GRCm39)	V2324G	probably damaging	Het
Hnmt	A	T	2: 23,909,157 (GRCm39)	N85K	probably damaging	Het
Kcng4	G	T	8: 120,352,822 (GRCm39)	R363S	probably damaging	Het
Kif18a	T	C	2: 109,137,363 (GRCm39)		probably benign	Het
Lrrc8b	A	T	5: 105,629,703 (GRCm39)	Y683F	probably benign	Het
Mepce	G	T	5: 137,782,757 (GRCm39)	T523K	probably benign	Het
Mroh1	T	C	15: 76,321,439 (GRCm39)	V1040A	possibly damaging	Het
Myof	A	G	19: 37,913,083 (GRCm39)	Y1470H	probably damaging	Het
Or5p50	A	G	7: 107,421,798 (GRCm39)	Y293H	probably damaging	Het
Otol1	T	C	3: 69,925,929 (GRCm39)	S35P	probably benign	Het
P4htm	T	C	9: 108,459,161 (GRCm39)	D257G	probably benign	Het
Pcdhb15	A	G	18: 37,607,010 (GRCm39)	T81A	probably damaging	Het
Polg2	T	C	11: 106,669,946 (GRCm39)	E108G	probably benign	Het
Rfx7	T	A	9: 72,514,932 (GRCm39)	H143Q	probably damaging	Het
Sf3b2	A	G	19: 5,333,765 (GRCm39)	V611A	probably benign	Het
Slc10a7	G	T	8: 79,423,932 (GRCm39)	K203N	probably benign	Het
Slc12a5	T	A	2: 164,838,399 (GRCm39)	V1046D	probably benign	Het
Unc79	T	A	12: 103,045,260 (GRCm39)	I812N	probably damaging	Het
Vps13c	A	G	9: 67,790,736 (GRCm39)	Y338C	probably damaging	Het
Wdr17	T	C	8: 55,149,335 (GRCm39)	Y31C	probably damaging	Het
Zfp654	A	T	16: 64,606,329 (GRCm39)	N624K	probably damaging	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
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
R7766:Tacc2	UTSW	7	130,345,328 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16