Mutagenetix > Incidental Mutations

Incidental Mutation 'R1538:Tacc2'

169695

Institutional Source

Beutler Lab

Gene Symbol

Tacc2

Ensembl Gene

ENSMUSG00000030852

Gene Name

transforming, acidic coiled-coil containing protein 2

Synonyms

MMRRC Submission

039577-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1538 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130577438-130764785 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130625419 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1278 (M1278T)

Ref Sequence

ENSEMBL: ENSMUSP00000146419 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000084513
AA Change: M1278T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000081561
Gene: ENSMUSG00000030852
AA Change: M1278T

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 benign
Transcript: ENSMUST00000207918
AA Change: M1278T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207999

Predicted Effect

probably benign
Transcript: ENSMUST00000208722

Predicted Effect

probably benign
Transcript: ENSMUST00000215492
AA Change: M1297T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.6%

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 138,065,401	R117L	probably benign	Het
4930447C04Rik	G	A	12: 72,881,346	A537V	possibly damaging	Het
4930579F01Rik	A	C	3: 138,183,756	D33E	probably damaging	Het
9530053A07Rik	A	T	7: 28,155,492	I1848F	probably damaging	Het
Acnat1	T	C	4: 49,447,835	K249E	possibly damaging	Het
Ankrd13a	T	C	5: 114,804,234	I526T	possibly damaging	Het
Aplp1	C	A	7: 30,436,027	E535D	probably benign	Het
Armc8	T	A	9: 99,505,290	H425L	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Asprv1	C	T	6: 86,628,636	Q155*	probably null	Het
Atl1	A	G	12: 69,926,188	Q94R	probably benign	Het
Atp2a2	A	G	5: 122,457,377	L970P	probably damaging	Het
Atp8a2	T	C	14: 59,860,270	K770E	probably benign	Het
Bod1l	A	G	5: 41,816,429	M2514T	probably benign	Het
Cacfd1	T	A	2: 27,018,939	D97E	probably benign	Het
Cacna1e	A	G	1: 154,561,758	L344P	probably damaging	Het
Cacna2d2	C	A	9: 107,517,416	R596S	probably damaging	Het
Catip	C	A	1: 74,364,652	S176*	probably null	Het
Cdcp1	G	A	9: 123,173,588	S806L	probably damaging	Het
Cdk6	A	T	5: 3,520,675	I289L	probably benign	Het
Cers3	C	T	7: 66,781,823	T182I	probably damaging	Het
Cfap46	T	A	7: 139,683,008	N43I	probably null	Het
Clec4n	A	T	6: 123,230,033	R5S	possibly damaging	Het
Cnr2	G	T	4: 135,916,701	S30I	probably benign	Het
Col18a1	C	T	10: 77,071,336	G870E	probably damaging	Het
Cpne6	T	C	14: 55,515,220	V289A	possibly damaging	Het
Crym	G	A	7: 120,197,715	L141F	probably benign	Het
Cxxc5	T	C	18: 35,858,569	S8P	unknown	Het
Dido1	A	C	2: 180,684,970	S453R	possibly damaging	Het
Dnah2	A	C	11: 69,477,202	S1770R	probably benign	Het
Dnah7a	A	G	1: 53,495,989	V2704A	possibly damaging	Het
Eml5	T	C	12: 98,794,276	N1738S	probably damaging	Het
Eri3	A	G	4: 117,582,639	T138A	possibly damaging	Het
Ext2	C	T	2: 93,707,287	E585K	probably damaging	Het
Fam35a	C	G	14: 34,268,876	Q24H	probably damaging	Het
Fam84b	A	G	15: 60,823,649	C83R	probably damaging	Het
Fbxw19	T	A	9: 109,494,988	S38C	probably damaging	Het
Fmo6	G	A	1: 162,926,106	P156S	probably damaging	Het
Frem3	T	C	8: 80,612,710	L544P	probably damaging	Het
Frem3	A	T	8: 80,613,135	I686F	probably benign	Het
Gabra1	T	C	11: 42,140,350	Y251C	probably benign	Het
Gemin4	G	T	11: 76,211,161	Q925K	probably benign	Het
Gm18856	T	A	13: 13,964,689		probably benign	Het
Gnb1	A	T	4: 155,551,714	T164S	probably benign	Het
Gpx6	A	G	13: 21,313,652	D31G	possibly damaging	Het
Gzmd	A	C	14: 56,130,345	I157S	probably benign	Het
Il31ra	T	A	13: 112,547,466	N43I	possibly damaging	Het
Irak3	T	C	10: 120,165,130	T297A	probably benign	Het
Kank2	T	C	9: 21,774,631	D649G	probably damaging	Het
Kif3b	AGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGG	2: 153,317,462		probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klhl18	A	G	9: 110,446,747	F111S	probably damaging	Het
Lrp5	A	G	19: 3,647,585	S319P	possibly damaging	Het
Marc1	T	C	1: 184,802,002	E223G	probably damaging	Het
Mettl15	T	C	2: 109,131,665		probably null	Het
Ncoa1	T	C	12: 4,270,748	Q1107R	possibly damaging	Het
Ncoa7	T	G	10: 30,694,211	M251L	probably damaging	Het
Nos2	A	T	11: 78,956,570	M1023L	probably benign	Het
Nup107	T	C	10: 117,790,494	K25E	probably damaging	Het
Olfr1491	A	T	19: 13,705,496	Y223F	probably damaging	Het
Olfr177	T	A	16: 58,872,898	N84I	probably damaging	Het
Olfr482	T	A	7: 108,095,286	I95F	probably damaging	Het
Olfr591	A	G	7: 103,172,986	I217T	probably damaging	Het
Olfr711	A	T	7: 106,971,983	Y120*	probably null	Het
Olfr776	T	C	10: 129,261,213	I84T	probably damaging	Het
Parm1	G	A	5: 91,594,447	E225K	possibly damaging	Het
Pdzd2	A	C	15: 12,372,961	S2363A	probably damaging	Het
Piezo1	A	G	8: 122,491,403	L1199P	probably damaging	Het
Prpsap1	A	T	11: 116,479,708	M141K	probably benign	Het
Prss29	A	T	17: 25,320,283	M1L	possibly damaging	Het
Pter	T	A	2: 12,978,606	S141T	probably benign	Het
Ptpru	A	T	4: 131,774,351	D1181E	probably damaging	Het
Rab3ip	T	A	10: 116,939,254	Q66H	probably damaging	Het
Rgs12	A	T	5: 35,021,167	T779S	probably damaging	Het
Rgs22	A	G	15: 36,048,776	F786S	probably damaging	Het
Rnasel	A	T	1: 153,760,794	D640V	possibly damaging	Het
Rp1	T	C	1: 4,345,676	T1738A	probably damaging	Het
Sacs	T	C	14: 61,210,059	S3185P	probably damaging	Het
Scnn1a	T	A	6: 125,338,893	D321E	possibly damaging	Het
Sec31b	G	C	19: 44,518,586	L1014V	probably benign	Het
Serpinb10	A	G	1: 107,540,960	Y111C	probably damaging	Het
Siglecg	A	G	7: 43,417,889	K627E	possibly damaging	Het
Sigmar1	T	C	4: 41,740,845	I95V	probably benign	Het
Sirpb1b	T	A	3: 15,548,759	T88S	possibly damaging	Het
Spire2	T	G	8: 123,358,156	L245R	probably damaging	Het
Stard9	C	A	2: 120,696,711	P1150T	probably benign	Het
Stat6	C	A	10: 127,653,256	T380N	probably damaging	Het
Sult3a1	G	A	10: 33,870,170	G162E	probably benign	Het
Surf4	T	C	2: 26,933,698		probably null	Het
Tacr2	T	A	10: 62,261,327		probably null	Het
Tcaf1	A	T	6: 42,678,989	V351E	probably damaging	Het
Tmcc2	A	G	1: 132,380,980	S59P	probably damaging	Het
Tmem17	G	A	11: 22,517,266	S60N	possibly damaging	Het
Tmem63b	C	G	17: 45,678,978	R88P	possibly damaging	Het
Tmprss7	A	T	16: 45,679,390	I307N	probably benign	Het
Treml2	A	T	17: 48,302,758	T73S	possibly damaging	Het
Trrap	A	G	5: 144,837,202	H2876R	possibly damaging	Het
Tyw3	A	G	3: 154,596,869	I53T	probably damaging	Het
Ugp2	A	G	11: 21,333,791	I92T	possibly damaging	Het
Vmn2r66	A	T	7: 84,994,958	M748K	possibly damaging	Het
Vmn2r82	T	C	10: 79,356,744	S52P	possibly damaging	Het
Wdr37	A	T	13: 8,836,792	S320T	probably benign	Het
Zbtb16	A	T	9: 48,832,283	M243K	probably benign	Het
Zfr	C	T	15: 12,150,243	T432I	possibly damaging	Het

Other mutations in Tacc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Tacc2	APN	7	130759168	missense	probably damaging	1.00
IGL01396:Tacc2	APN	7	130759189	missense	probably damaging	0.98
IGL01621:Tacc2	APN	7	130729768	missense	probably damaging	0.99
IGL02000:Tacc2	APN	7	130729168	unclassified	probably null
IGL02075:Tacc2	APN	7	130728852	missense	probably benign	0.03
IGL02201:Tacc2	APN	7	130626212	missense	possibly damaging	0.84
IGL02205:Tacc2	APN	7	130626682	missense	probably damaging	1.00
IGL02399:Tacc2	APN	7	130623399	missense	probably benign	0.15
IGL02456:Tacc2	APN	7	130626261	missense	probably benign	0.35
IGL02559:Tacc2	APN	7	130759267	missense	probably damaging	1.00
IGL02734:Tacc2	APN	7	130626099	missense	probably damaging	0.98
IGL02800:Tacc2	APN	7	130624079	missense	probably benign	0.40
IGL02938:Tacc2	APN	7	130728941	missense	probably damaging	1.00
IGL03031:Tacc2	APN	7	130623855	missense	possibly damaging	0.94
IGL03278:Tacc2	APN	7	130733568	critical splice donor site	probably null
IGL03283:Tacc2	APN	7	130742266	missense	possibly damaging	0.47
IGL03371:Tacc2	APN	7	130626061	missense	possibly damaging	0.90
aces	UTSW	7	130733528	missense	probably damaging	1.00
Jacks	UTSW	7	130625764	missense	probably damaging	0.98
kings	UTSW	7	130623483	missense	probably damaging	0.96
R0002:Tacc2	UTSW	7	130621785	missense	probably damaging	0.99
R0119:Tacc2	UTSW	7	130621875	missense	probably damaging	0.98
R0244:Tacc2	UTSW	7	130751825	splice site	probably benign
R0619:Tacc2	UTSW	7	130716753	missense	probably damaging	1.00
R0624:Tacc2	UTSW	7	130577509	missense	probably damaging	0.99
R0632:Tacc2	UTSW	7	130625595	nonsense	probably null
R1015:Tacc2	UTSW	7	130624065	missense	probably benign
R1081:Tacc2	UTSW	7	130728574	missense	possibly damaging	0.46
R1086:Tacc2	UTSW	7	130626497	missense	possibly damaging	0.94
R1351:Tacc2	UTSW	7	130663003	intron	probably benign
R1743:Tacc2	UTSW	7	130626598	nonsense	probably null
R1771:Tacc2	UTSW	7	130742240	missense	probably damaging	1.00
R1876:Tacc2	UTSW	7	130623745	missense	probably benign	0.38
R1893:Tacc2	UTSW	7	130625325	missense	probably benign	0.01
R1899:Tacc2	UTSW	7	130624202	missense	possibly damaging	0.81
R2005:Tacc2	UTSW	7	130731550	missense	probably damaging	1.00
R2131:Tacc2	UTSW	7	130621857	missense	possibly damaging	0.90
R2338:Tacc2	UTSW	7	130733569	splice site	probably null
R2407:Tacc2	UTSW	7	130622040	missense	possibly damaging	0.65
R3051:Tacc2	UTSW	7	130625496	missense	possibly damaging	0.81
R3052:Tacc2	UTSW	7	130625496	missense	possibly damaging	0.81
R3053:Tacc2	UTSW	7	130625496	missense	possibly damaging	0.81
R3116:Tacc2	UTSW	7	130759249	missense	probably damaging	1.00
R3412:Tacc2	UTSW	7	130734994	missense	probably benign	0.02
R3683:Tacc2	UTSW	7	130625070	missense	probably benign	0.40
R3685:Tacc2	UTSW	7	130625070	missense	probably benign	0.40
R3872:Tacc2	UTSW	7	130622422	missense	probably benign	0.02
R4063:Tacc2	UTSW	7	130729122	missense	probably damaging	0.97
R4410:Tacc2	UTSW	7	130742211	missense	possibly damaging	0.80
R4434:Tacc2	UTSW	7	130623541	missense	probably damaging	0.96
R4438:Tacc2	UTSW	7	130623541	missense	probably damaging	0.96
R4618:Tacc2	UTSW	7	130626216	missense	probably benign	0.10
R4674:Tacc2	UTSW	7	130624861	missense	possibly damaging	0.75
R4742:Tacc2	UTSW	7	130625967	missense	probably benign	0.00
R4934:Tacc2	UTSW	7	130728588	missense	probably damaging	1.00
R4947:Tacc2	UTSW	7	130625899	missense	probably damaging	0.98
R4964:Tacc2	UTSW	7	130728777	missense	probably damaging	1.00
R4966:Tacc2	UTSW	7	130728777	missense	probably damaging	1.00
R4967:Tacc2	UTSW	7	130623948	missense	probably damaging	0.99
R5052:Tacc2	UTSW	7	130735014	missense	probably damaging	1.00
R5276:Tacc2	UTSW	7	130729317	missense	probably damaging	1.00
R5330:Tacc2	UTSW	7	130733528	missense	probably damaging	1.00
R5331:Tacc2	UTSW	7	130733528	missense	probably damaging	1.00
R5372:Tacc2	UTSW	7	130623260	missense	probably benign	0.09
R5556:Tacc2	UTSW	7	130674606	missense	probably damaging	0.97
R5645:Tacc2	UTSW	7	130624051	missense	possibly damaging	0.80
R5886:Tacc2	UTSW	7	130729120	missense	probably benign	0.18
R5996:Tacc2	UTSW	7	130623483	missense	probably damaging	0.96
R6074:Tacc2	UTSW	7	130625435	missense	possibly damaging	0.92
R6127:Tacc2	UTSW	7	130626115	missense	possibly damaging	0.92
R6156:Tacc2	UTSW	7	130625764	missense	probably damaging	0.98
R6298:Tacc2	UTSW	7	130626525	missense	probably benign	0.26
R6444:Tacc2	UTSW	7	130623412	missense	possibly damaging	0.46
R6533:Tacc2	UTSW	7	130622837	missense	possibly damaging	0.94
R6724:Tacc2	UTSW	7	130728762	missense	probably damaging	1.00
R7111:Tacc2	UTSW	7	130728888	missense	probably benign	0.16
R7150:Tacc2	UTSW	7	130729077	missense	probably benign
R7290:Tacc2	UTSW	7	130729373	missense	probably benign	0.07
R7404:Tacc2	UTSW	7	130623336	missense	probably benign	0.22
R7460:Tacc2	UTSW	7	130624633	missense	probably benign	0.39
R7651:Tacc2	UTSW	7	130623154	missense	probably benign	0.25
R7666:Tacc2	UTSW	7	130716814	start gained	probably benign
R7695:Tacc2	UTSW	7	130728903	missense	probably benign	0.08
R7766:Tacc2	UTSW	7	130743598	missense	probably damaging	1.00
R7793:Tacc2	UTSW	7	130623113	missense	probably benign	0.34
X0010:Tacc2	UTSW	7	130735057	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGCTTTGGAAAATGACACCCTTG -3'
(R):5'- AAGCCCCGCTATTATGCTGGTCTG -3'

Sequencing Primer
(F):5'- TTGAAAAGACACCTGCTGTCTC -3'
(R):5'- TGCTTGGAGCTTGCACC -3'

Posted On

2014-04-13