Mutagenetix > Incidental Mutation

Incidental Mutation 'R9221:Tacc2'

699464

Institutional Source

Beutler Lab

Gene Symbol

Tacc2

Ensembl Gene

ENSMUSG00000030852

Gene Name

transforming, acidic coiled-coil containing protein 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9221 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130179168-130366515 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 130226058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 914 (S914R)

Ref Sequence

ENSEMBL: ENSMUSP00000081561 (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: S914R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081561
Gene: ENSMUSG00000030852
AA Change: S914R

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: S914R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000208722

Predicted Effect

probably damaging
Transcript: ENSMUST00000215492
AA Change: S933R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,921,828 (GRCm39)	D1128G	probably damaging	Het
Acsm3	A	T	7: 119,368,131 (GRCm39)	R116*	probably null	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,989,943 (GRCm39)	D3742E	probably damaging	Het
Arhgef17	A	G	7: 100,528,818 (GRCm39)	S598P	possibly damaging	Het
Asxl2	T	C	12: 3,552,310 (GRCm39)	F1351L	probably damaging	Het
Atg7	C	T	6: 114,672,588 (GRCm39)	T267I	possibly damaging	Het
Bace2	A	G	16: 97,209,692 (GRCm39)	K202R	probably benign	Het
Bccip	G	T	7: 133,311,249 (GRCm39)	V55L	probably benign	Het
Bpifa1	T	A	2: 153,988,052 (GRCm39)	H198Q	possibly damaging	Het
Btbd7	A	G	12: 102,777,430 (GRCm39)	Y466H	probably damaging	Het
Cdc45	A	C	16: 18,605,521 (GRCm39)	S480A	probably benign	Het
Cenpe	T	C	3: 134,935,839 (GRCm39)	Y425H	possibly damaging	Het
Cep76	A	C	18: 67,767,977 (GRCm39)	M185R	probably damaging	Het
Chd5	G	T	4: 152,456,122 (GRCm39)	M930I	probably damaging	Het
Clstn2	G	T	9: 97,343,395 (GRCm39)	T684K	probably benign	Het
Col4a2	A	G	8: 11,491,943 (GRCm39)	N1270S	possibly damaging	Het
Crxos	A	G	7: 15,636,850 (GRCm39)	H141R	probably benign	Het
Dcc	A	G	18: 71,553,433 (GRCm39)	I741T	possibly damaging	Het
Ddx20	A	T	3: 105,587,685 (GRCm39)	C430*	probably null	Het
Dgki	G	A	6: 37,273,615 (GRCm39)	T12M	probably benign	Het
Dock6	T	C	9: 21,721,153 (GRCm39)	N1676S	possibly damaging	Het
Exosc6	G	A	8: 111,783,028 (GRCm39)	R9H	probably damaging	Het
Fstl5	A	G	3: 76,569,114 (GRCm39)	Q589R	probably damaging	Het
Gm4846	T	A	1: 166,324,959 (GRCm39)	Y44F	probably benign	Het
Gpr15lg	A	G	14: 36,829,352 (GRCm39)	S44P	probably damaging	Het
Gtf3c2	A	C	5: 31,326,401 (GRCm39)	I370R	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hspg2	A	G	4: 137,287,726 (GRCm39)	M3696V	possibly damaging	Het
Itga1	A	T	13: 115,166,695 (GRCm39)	C167*	probably null	Het
Khdc4	T	C	3: 88,593,853 (GRCm39)	S81P	probably benign	Het
Kpna2	A	G	11: 106,880,158 (GRCm39)	S497P	probably damaging	Het
Krt77	T	A	15: 101,774,064 (GRCm39)	T197S	probably damaging	Het
Krtap6-5	T	C	16: 88,844,655 (GRCm39)	Y26C	unknown	Het
Lhfpl5	A	T	17: 28,799,133 (GRCm39)	D214V	possibly damaging	Het
Lrrtm1	A	G	6: 77,221,596 (GRCm39)	E351G	probably damaging	Het
Mphosph9	A	G	5: 124,403,427 (GRCm39)	V867A	probably benign	Het
Mtcl1	T	A	17: 66,650,879 (GRCm39)	M1529L	probably benign	Het
Mthfr	A	T	4: 148,132,626 (GRCm39)	Q268L	probably damaging	Het
Myo1d	A	T	11: 80,565,744 (GRCm39)	N360K	probably damaging	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Or1e33	A	T	11: 73,738,108 (GRCm39)	V281E	probably damaging	Het
Or4p8	T	C	2: 88,727,255 (GRCm39)	S229G	probably benign	Het
Or5an1b	A	T	19: 12,299,336 (GRCm39)	M285K	probably damaging	Het
Or5m11	T	A	2: 85,782,185 (GRCm39)	Y259*	probably null	Het
P2rx5	A	T	11: 73,062,655 (GRCm39)	T455S	probably damaging	Het
Palld	A	T	8: 61,969,591 (GRCm39)	F1244L	unknown	Het
Pbld1	A	G	10: 62,907,829 (GRCm39)	T125A		Het
Pde3b	G	A	7: 114,014,697 (GRCm39)		probably benign	Het
Pfkm	T	C	15: 98,019,188 (GRCm39)	S180P	probably damaging	Het
Pla2g4d	T	A	2: 120,100,453 (GRCm39)	R626S	possibly damaging	Het
Postn	A	G	3: 54,282,515 (GRCm39)	E492G	possibly damaging	Het
Prph2	A	G	17: 47,230,818 (GRCm39)	D237G	probably damaging	Het
Psmd4	T	C	3: 94,942,604 (GRCm39)	H105R	probably damaging	Het
Pygl	T	C	12: 70,242,401 (GRCm39)	N685S	probably damaging	Het
Rp1	A	G	1: 4,315,266 (GRCm39)	F502S	unknown	Het
Sik1	T	C	17: 32,066,167 (GRCm39)	I607V	probably benign	Het
Slc26a3	T	A	12: 31,513,470 (GRCm39)	I464N	possibly damaging	Het
Slc38a9	A	G	13: 112,825,910 (GRCm39)	N116S	probably damaging	Het
Sorcs2	C	A	5: 36,181,910 (GRCm39)		probably null	Het
Spink5	T	C	18: 44,119,367 (GRCm39)	L226P	probably damaging	Het
Tab1	G	A	15: 80,034,754 (GRCm39)	V180I	probably benign	Het
Tlr9	A	G	9: 106,101,972 (GRCm39)	D421G	probably damaging	Het
Tmem181a	T	C	17: 6,307,265 (GRCm39)	L16P	probably damaging	Het
Trim58	A	T	11: 58,542,075 (GRCm39)	H345L	probably damaging	Het
Ttc13	G	A	8: 125,400,290 (GRCm39)	R688C	probably benign	Het
Ube2o	C	A	11: 116,433,664 (GRCm39)	V685L	probably damaging	Het
Uso1	A	G	5: 92,335,173 (GRCm39)	H511R	probably benign	Het
Vmn2r5	A	T	3: 64,411,721 (GRCm39)	Y282*	probably null	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
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
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'- GCAGATGTGAGCTTGTCCAC -3'
(R):5'- GTACGTCACCGGCTTCAGAAAG -3'

Sequencing Primer
(F):5'- CAGATGTGAGCTTGTCCACTCAAG -3'
(R):5'- TTCAGAAAGGCCCGAGTCC -3'

Posted On

2022-02-07