Mutagenetix > Incidental Mutation

Incidental Mutation 'R5996:Tacc2'

481124

Institutional Source

Beutler Lab

Gene Symbol

Tacc2

Ensembl Gene

ENSMUSG00000030852

Gene Name

transforming, acidic coiled-coil containing protein 2

Synonyms

MMRRC Submission

044175-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5996 (G1)

Quality Score

192.009

Status

Validated

Chromosome

Chromosomal Location

130179168-130366515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130225213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 633 (S633P)

Ref Sequence

ENSEMBL: ENSMUSP00000146419 (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: S633P

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

SMART Domains

Protein: ENSMUSP00000081561
Gene: ENSMUSG00000030852
AA Change: S633P

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: S633P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207999

Predicted Effect

probably benign
Transcript: ENSMUST00000208722

Predicted Effect

probably benign
Transcript: ENSMUST00000215492
AA Change: S652P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

97% (69/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,468,928 (GRCm39)	M1T	probably null	Het
A2m	T	A	6: 121,636,353 (GRCm39)	W741R	probably damaging	Het
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Acan	A	G	7: 78,761,068 (GRCm39)	T1927A	probably damaging	Het
Agbl4	A	G	4: 110,812,869 (GRCm39)		probably null	Het
Bltp1	T	C	3: 36,985,265 (GRCm39)	F865S	probably benign	Het
Ccr8	T	A	9: 119,923,529 (GRCm39)	C215S	probably damaging	Het
Cd209b	T	C	8: 3,968,688 (GRCm39)	T314A	probably benign	Het
Cd244a	T	G	1: 171,409,208 (GRCm39)		probably null	Het
Cdh23	T	C	10: 60,249,356 (GRCm39)	E849G	possibly damaging	Het
Cep57	A	G	9: 13,721,175 (GRCm39)	V268A	probably damaging	Het
Clip4	T	C	17: 72,163,305 (GRCm39)	S626P	probably damaging	Het
Col19a1	C	T	1: 24,367,152 (GRCm39)	G477R	probably damaging	Het
Col4a4	T	C	1: 82,433,449 (GRCm39)	D1498G	unknown	Het
Coro6	T	C	11: 77,357,322 (GRCm39)	V177A	probably benign	Het
Crip3	T	C	17: 46,742,210 (GRCm39)	S202P	possibly damaging	Het
Cxcr2	T	C	1: 74,197,619 (GRCm39)	C38R	probably damaging	Het
Cyp4f13	C	T	17: 33,148,447 (GRCm39)	G327R	possibly damaging	Het
Dab2	C	T	15: 6,464,792 (GRCm39)	Q415*	probably null	Het
Dennd5b	A	G	6: 148,969,593 (GRCm39)	F287L	probably benign	Het
Dlg4	G	A	11: 69,908,057 (GRCm39)	R6K	probably benign	Het
Edc4	A	G	8: 106,614,033 (GRCm39)	K429E	probably damaging	Het
Fam107b	T	A	2: 3,780,667 (GRCm39)		probably null	Het
Flt4	A	T	11: 49,541,897 (GRCm39)	D1360V	probably damaging	Het
Gm1043	A	T	5: 37,317,168 (GRCm39)		probably benign	Het
Gm4894	A	T	9: 49,189,970 (GRCm39)	I82L	unknown	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gpr176	A	C	2: 118,114,385 (GRCm39)		probably null	Het
Gtse1	T	C	15: 85,748,381 (GRCm39)	L262P	probably benign	Het
Il4ra	T	C	7: 125,166,393 (GRCm39)	W46R	probably damaging	Het
Itga11	A	G	9: 62,662,955 (GRCm39)	Y557C	probably benign	Het
Kcnab2	A	C	4: 152,519,287 (GRCm39)		probably null	Het
Kcnh7	G	A	2: 63,014,441 (GRCm39)		probably benign	Het
Ly9	T	A	1: 171,429,396 (GRCm39)	Q230L	probably damaging	Het
Map2	C	A	1: 66,454,043 (GRCm39)	H978N	possibly damaging	Het
Map2k6	A	G	11: 110,388,732 (GRCm39)	I225V	possibly damaging	Het
Map3k13	A	G	16: 21,723,995 (GRCm39)	N326D	possibly damaging	Het
Mdga2	A	G	12: 66,844,537 (GRCm39)	F85L	probably benign	Het
Mmp13	C	T	9: 7,274,269 (GRCm39)	P192L	probably damaging	Het
Mrpl37	T	C	4: 106,923,704 (GRCm39)	T97A	probably benign	Het
Mycbpap	C	T	11: 94,404,420 (GRCm39)	G121D	probably benign	Het
Nabp1	A	G	1: 51,510,544 (GRCm39)	S153P	probably benign	Het
Nsun3	A	T	16: 62,590,049 (GRCm39)	F222I	probably benign	Het
Or4q3	A	G	14: 50,582,969 (GRCm39)	V310A	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,991 (GRCm39)	D180V	probably benign	Het
Pex6	C	A	17: 47,025,384 (GRCm39)		probably null	Het
Phrf1	C	A	7: 140,839,015 (GRCm39)		probably benign	Het
Ppp1r36	A	G	12: 76,485,936 (GRCm39)	T365A	possibly damaging	Het
Ranbp10	A	G	8: 106,499,672 (GRCm39)	M519T	probably benign	Het
Rfx4	G	A	10: 84,675,881 (GRCm39)	W32*	probably null	Het
Ryr1	T	C	7: 28,723,666 (GRCm39)	N4131S	probably benign	Het
Slc27a6	A	G	18: 58,745,306 (GRCm39)	E580G	possibly damaging	Het
Slc7a14	T	C	3: 31,263,385 (GRCm39)	D719G	probably benign	Het
Slfn9	A	G	11: 82,878,310 (GRCm39)	I273T	possibly damaging	Het
Spice1	A	G	16: 44,205,037 (GRCm39)	E781G	probably benign	Het
Sspo	C	T	6: 48,471,110 (GRCm39)	P4686S	possibly damaging	Het
Stab1	G	T	14: 30,861,508 (GRCm39)	R2500S	probably benign	Het
Stox2	A	T	8: 47,656,182 (GRCm39)	M98K	possibly damaging	Het
Tex51	G	T	18: 32,595,545 (GRCm39)		probably benign	Het
Tm9sf4	T	C	2: 153,037,491 (GRCm39)		probably null	Het
Togaram2	T	A	17: 72,011,778 (GRCm39)	F486I	probably damaging	Het
Trappc12	A	G	12: 28,797,113 (GRCm39)	S140P	possibly damaging	Het
Ttc29	A	T	8: 79,003,525 (GRCm39)	N247I	probably damaging	Het
Uso1	A	T	5: 92,340,589 (GRCm39)	E668D	probably benign	Het
Vmn2r69	A	T	7: 85,061,117 (GRCm39)		probably null	Het
Xirp2	T	A	2: 67,341,994 (GRCm39)	L1412I	possibly damaging	Het
Xrcc5	T	A	1: 72,349,617 (GRCm39)	D15E	probably damaging	Het
Zfp661	T	C	2: 127,418,968 (GRCm39)	K391E	probably damaging	Het
Zfp729b	A	G	13: 67,741,977 (GRCm39)	I106T	probably benign	Het
Zfyve9	A	C	4: 108,576,557 (GRCm39)	S175A	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
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

Predicted Primers

PCR Primer
(F):5'- CCCATCTGGAGACCAAGAAAGG -3'
(R):5'- CAGCTGTAGCAGGCAGGAAATC -3'

Sequencing Primer
(F):5'- GGTTTCAAAGGCACACAGTAATAC -3'
(R):5'- CTCCTTTCTCAGATTCTAAAGCAGG -3'

Posted On

2017-06-26