Mutagenetix > Incidental Mutation

Incidental Mutation 'R1899:Tacc2'

214092

Institutional Source

Beutler Lab

Gene Symbol

Tacc2

Ensembl Gene

ENSMUSG00000030852

Gene Name

transforming, acidic coiled-coil containing protein 2

Synonyms

MMRRC Submission

039919-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130577438-130764785 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 130624202 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 891 (S891R)

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 benign
Transcript: ENSMUST00000084513
AA Change: S872R

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000081561
Gene: ENSMUSG00000030852
AA Change: S872R

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

possibly damaging
Transcript: ENSMUST00000207918
AA Change: S872R

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207999

Predicted Effect

probably benign
Transcript: ENSMUST00000208722

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215492
AA Change: S891R

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

94% (94/100)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	T	C	18: 38,258,342	W378R	probably benign	Het
4930522L14Rik	T	A	5: 109,736,798	Q398L	probably benign	Het
4930596D02Rik	T	G	14: 35,810,132	K162T	probably damaging	Het
Abca8b	G	T	11: 109,937,918	T1353K	possibly damaging	Het
Abcg3	A	C	5: 104,938,199	C565G	probably damaging	Het
Actr3b	G	A	5: 25,829,538	V185I	possibly damaging	Het
Akap6	A	T	12: 53,141,852	E2016D	possibly damaging	Het
Aldh3b2	T	C	19: 3,978,662	V148A	possibly damaging	Het
Ankfy1	C	T	11: 72,754,407	Q771*	probably null	Het
Anks1b	A	G	10: 90,260,756	D425G	probably damaging	Het
Arrb1	T	C	7: 99,582,297		probably benign	Het
Atg2a	C	A	19: 6,245,067	T170N	probably damaging	Het
Atp8b5	C	T	4: 43,361,804	R617C	possibly damaging	Het
Bicra	T	C	7: 15,987,751	T614A	possibly damaging	Het
Cacna1i	A	G	15: 80,391,642	D167G	possibly damaging	Het
Calr4	T	G	4: 109,246,293		probably null	Het
Camsap3	G	T	8: 3,603,922	E515*	probably null	Het
Casp8ap2	T	C	4: 32,643,647	S907P	probably damaging	Het
Cdk19	T	A	10: 40,479,780		probably benign	Het
Chst14	A	G	2: 118,927,015	M122V	possibly damaging	Het
Cntn4	A	G	6: 106,675,813	M748V	probably benign	Het
Col7a1	A	G	9: 108,978,888	D2552G	unknown	Het
Cpeb2	C	A	5: 43,277,587	P600Q	probably damaging	Het
Cyp2a5	C	T	7: 26,839,033	R274*	probably null	Het
Dexi	A	G	16: 10,542,518	F58S	probably damaging	Het
Dlg5	C	A	14: 24,148,300	G1522W	probably damaging	Het
Dock2	T	C	11: 34,294,286	H1048R	probably benign	Het
Dpp4	T	C	2: 62,345,050		probably benign	Het
Dusp10	A	T	1: 184,069,180	K381N	possibly damaging	Het
Ercc4	A	G	16: 13,147,787	E761G	probably damaging	Het
Ern2	T	C	7: 122,183,842		probably benign	Het
Fam83f	A	T	15: 80,692,080	T311S	probably damaging	Het
Fat2	T	C	11: 55,262,178	D3736G	probably benign	Het
Fgf11	G	T	11: 69,801,453	T58K	probably benign	Het
Galntl5	C	G	5: 25,198,532	S167*	probably null	Het
Glg1	T	G	8: 111,165,674	E846D	probably benign	Het
Grm8	C	A	6: 28,125,895	E77D	probably damaging	Het
Hmcn1	A	T	1: 150,657,451	D3028E	probably damaging	Het
Htt	A	G	5: 34,907,085	I2943V	probably benign	Het
Ift80	T	C	3: 68,918,513	K498R	probably benign	Het
Ipo9	A	T	1: 135,400,146	M509K	probably damaging	Het
Kcnj3	T	C	2: 55,437,244	V15A	probably damaging	Het
Kcnn3	A	T	3: 89,520,455		probably benign	Het
Larp1b	T	A	3: 40,964,084	D53E	probably benign	Het
Ltf	T	C	9: 111,022,845	F117L	possibly damaging	Het
Maml1	A	G	11: 50,266,130	L406P	probably damaging	Het
Mnx1	G	A	5: 29,473,957	A376V	unknown	Het
Mroh2a	G	A	1: 88,235,376	R376H	probably benign	Het
Mrpl4	A	G	9: 21,006,831	Y111C	probably damaging	Het
Mto1	T	C	9: 78,461,517		probably benign	Het
Nalcn	A	T	14: 123,316,126	M972K	possibly damaging	Het
Nemf	T	C	12: 69,346,378	I225V	probably null	Het
Nipal4	T	G	11: 46,150,231	D379A	probably damaging	Het
Nktr	A	G	9: 121,748,866		probably benign	Het
Nlrp5	A	G	7: 23,404,797	T28A	probably benign	Het
Nxph1	T	A	6: 9,247,622	Y198N	probably damaging	Het
Olfr1037	A	T	2: 86,085,720	V19D	probably benign	Het
Olfr1230	T	C	2: 89,296,670	N200S	probably damaging	Het
Olfr1436	T	C	19: 12,298,343	Y263C	probably damaging	Het
P2rx7	A	G	5: 122,673,736	Y370C	probably benign	Het
Piezo1	T	C	8: 122,482,645		probably benign	Het
Piezo1	T	C	8: 122,489,566	D1401G	probably damaging	Het
Plxnd1	A	G	6: 115,969,363	L879P	probably benign	Het
Polr2a	A	T	11: 69,743,946	I636N	probably damaging	Het
Prex2	G	T	1: 11,162,366	E886*	probably null	Het
Proca1	A	T	11: 78,205,021	I73F	probably damaging	Het
Prss55	A	T	14: 64,079,390	V101E	probably benign	Het
Psg26	T	A	7: 18,478,425	H335L	probably benign	Het
Rai1	A	G	11: 60,185,920	E270G	probably benign	Het
Reep1	A	G	6: 71,780,797	N127D	probably benign	Het
Rims1	G	T	1: 22,428,474	P769Q	probably damaging	Het
Robo4	A	T	9: 37,404,070		probably benign	Het
Ryr2	A	T	13: 11,591,336	D888E	probably benign	Het
Scamp3	A	G	3: 89,180,260	N135D	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sema4f	A	G	6: 82,918,029	M395T	probably benign	Het
Sgip1	T	C	4: 102,968,337		probably null	Het
Sik2	A	T	9: 50,995,674		probably benign	Het
Smtn	G	T	11: 3,531,326	A223D	possibly damaging	Het
Spen	T	C	4: 141,470,343	T3405A	probably benign	Het
Srebf1	A	G	11: 60,203,486	L601P	probably damaging	Het
Srsf11	A	T	3: 158,031,580		probably benign	Het
Tbc1d17	T	A	7: 44,841,633		probably benign	Het
Tgfbr3l	C	A	8: 4,249,600	R128S	probably damaging	Het
Thsd1	G	A	8: 22,252,318		probably benign	Het
Tlx3	T	C	11: 33,203,072	S130G	probably benign	Het
Tmem25	A	T	9: 44,798,216		probably null	Het
Trak2	A	T	1: 58,946,336	M1K	probably null	Het
Trappc12	C	T	12: 28,746,985	E183K	probably damaging	Het
Ubl3	A	G	5: 148,509,280	V71A	possibly damaging	Het
Unc50	A	G	1: 37,438,799	Y254C	probably damaging	Het
Unkl	T	C	17: 25,229,460		probably null	Het
Uso1	T	A	5: 92,201,192	S819T	probably benign	Het
Yes1	A	T	5: 32,645,051	R103S	probably damaging	Het
Zfp131	A	G	13: 119,767,025	V396A	probably damaging	Het
Zfp553	T	C	7: 127,235,654	I127T	possibly damaging	Het
Zfp599	A	T	9: 22,251,549	N102K	probably benign	Het
Zmynd10	A	T	9: 107,550,037	Q288L	probably benign	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	splice site	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
R1538:Tacc2	UTSW	7	130625419	missense	probably benign	0.03
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
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
R7861:Tacc2	UTSW	7	130625431	missense	probably benign	0.00
R8204:Tacc2	UTSW	7	130624429	missense	probably damaging	0.97
R8244:Tacc2	UTSW	7	130728676	missense	probably damaging	1.00
R8245:Tacc2	UTSW	7	130729573	missense	probably damaging	1.00
R8283:Tacc2	UTSW	7	130625304	missense	probably benign	0.02
R8348:Tacc2	UTSW	7	130623289	missense	possibly damaging	0.84
R8369:Tacc2	UTSW	7	130622158	missense	probably damaging	0.98
R8381:Tacc2	UTSW	7	130624242	missense	probably benign	0.00
R8804:Tacc2	UTSW	7	130692963	missense	probably benign
R8809:Tacc2	UTSW	7	130674691	missense	possibly damaging	0.94
R8835:Tacc2	UTSW	7	130626528	missense	probably benign	0.00
R8880:Tacc2	UTSW	7	130716834	missense	possibly damaging	0.86
R8918:Tacc2	UTSW	7	130626093	missense	probably benign	0.00
R8936:Tacc2	UTSW	7	130626637	missense	possibly damaging	0.94
R8953:Tacc2	UTSW	7	130625757	missense	probably benign	0.00
R9026:Tacc2	UTSW	7	130623536	missense	probably damaging	1.00
R9193:Tacc2	UTSW	7	130626574	missense	probably benign	0.04
R9221:Tacc2	UTSW	7	130624328	missense	probably damaging	0.98
R9221:Tacc2	UTSW	7	130624479	missense	probably benign	0.00
R9222:Tacc2	UTSW	7	130626255	missense	probably benign	0.00
R9264:Tacc2	UTSW	7	130626803	missense	probably damaging	1.00
R9312:Tacc2	UTSW	7	130622248	missense	probably benign	0.00
R9380:Tacc2	UTSW	7	130625041	missense	possibly damaging	0.86
R9515:Tacc2	UTSW	7	130764311	missense	probably damaging	1.00
R9705:Tacc2	UTSW	7	130759288	missense	probably damaging	1.00
X0010:Tacc2	UTSW	7	130735057	missense	probably damaging	1.00
Z1176:Tacc2	UTSW	7	130623370	missense	probably benign	0.01
Z1176:Tacc2	UTSW	7	130624270	missense	possibly damaging	0.59
Z1176:Tacc2	UTSW	7	130744597	missense	probably damaging	1.00
Z1177:Tacc2	UTSW	7	130624980	missense	probably damaging	1.00
Z1177:Tacc2	UTSW	7	130625774	missense	probably damaging	0.99
Z1177:Tacc2	UTSW	7	130734949	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CAAAAGGCTTGTCAAAGTGACCC -3'
(R):5'- TCCTGTTGGGACTTGCTCAG -3'

Sequencing Primer
(F):5'- TTGTCAAAGTGACCCAGGTC -3'
(R):5'- CACCCAAGTTTTCTGTAAGAGCGG -3'

Posted On

2014-07-14