Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01457:Tube1'

84856

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tube1

Ensembl Gene

ENSMUSG00000019845

Gene Name

tubulin, epsilon 1

Synonyms

2310061K05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.939) question?

Stock #

IGL01457

Quality Score

Status

Chromosome

Chromosomal Location

39009972-39028538 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 39021718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019991] [ENSMUST00000213459]

AlphaFold

Q9D6T1

Predicted Effect

probably benign
Transcript: ENSMUST00000019991

SMART Domains

Protein: ENSMUSP00000019991
Gene: ENSMUSG00000019845

Domain	Start	End	E-Value	Type
Tubulin	55	277	1.08e-38	SMART
Tubulin_C	279	414	9.81e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213237

Predicted Effect

probably benign
Transcript: ENSMUST00000213459

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214493

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217214

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tubulin superfamily. This protein localizes to the centriolar sub-distal appendages that are associated with the older of the two centrioles after centrosome duplication. This protein plays a central role in organization of the microtubules during centriole duplication. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,382,908 (GRCm39)	Y1019F	probably benign	Het
4930455H04Rik	T	G	3: 116,762,200 (GRCm39)		probably benign	Het
9830107B12Rik	A	T	17: 48,439,193 (GRCm39)		probably benign	Het
Abcc8	A	G	7: 45,784,917 (GRCm39)	V737A	possibly damaging	Het
Adamts20	T	A	15: 94,229,329 (GRCm39)	Y930F	probably damaging	Het
Alkbh8	T	A	9: 3,369,825 (GRCm39)	F365I	probably damaging	Het
App	G	A	16: 84,900,127 (GRCm39)	H108Y	probably damaging	Het
Bfsp1	T	C	2: 143,669,564 (GRCm39)		probably benign	Het
Bltp3b	T	C	10: 89,641,624 (GRCm39)	S932P	probably benign	Het
Cabin1	T	C	10: 75,578,263 (GRCm39)	N478S	probably damaging	Het
Camsap3	G	A	8: 3,654,795 (GRCm39)	V796I	probably damaging	Het
Carns1	A	T	19: 4,216,498 (GRCm39)		probably null	Het
Ccdc121	A	T	5: 31,644,771 (GRCm39)	I175L	probably benign	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cltc	C	T	11: 86,593,074 (GRCm39)	M1600I	probably benign	Het
Cnot1	T	A	8: 96,467,637 (GRCm39)	N1499Y	probably damaging	Het
Crebbp	T	A	16: 3,942,632 (GRCm39)	I196L	probably damaging	Het
Drc3	C	A	11: 60,249,475 (GRCm39)		probably benign	Het
Fam161a	T	A	11: 22,970,702 (GRCm39)	Y234*	probably null	Het
Il1r1	C	A	1: 40,352,330 (GRCm39)	P500Q	probably damaging	Het
Katnal1	G	T	5: 148,830,607 (GRCm39)		probably benign	Het
Klhdc2	A	G	12: 69,343,827 (GRCm39)	N20S	probably benign	Het
Kmt2e	A	T	5: 23,707,017 (GRCm39)	T1527S	possibly damaging	Het
Magi1	C	T	6: 93,724,205 (GRCm39)	G270D	probably damaging	Het
Mdn1	T	A	4: 32,715,922 (GRCm39)	S2035T	possibly damaging	Het
Mki67	A	T	7: 135,301,275 (GRCm39)	M1253K	probably benign	Het
Myh7	T	C	14: 55,226,336 (GRCm39)	M435V	possibly damaging	Het
Myh8	A	G	11: 67,183,505 (GRCm39)	I739V	probably benign	Het
Npnt	T	C	3: 132,591,743 (GRCm39)	K430R	probably damaging	Het
Nrdc	A	G	4: 108,904,857 (GRCm39)	N696S	probably benign	Het
Oit3	T	C	10: 59,261,306 (GRCm39)		probably benign	Het
Or51a10	A	G	7: 103,699,376 (GRCm39)	Y62H	probably damaging	Het
Or51s1	A	G	7: 102,558,926 (GRCm39)	I40T	possibly damaging	Het
Or5bw2	A	G	7: 6,573,211 (GRCm39)	T74A	probably benign	Het
Or5p6	A	T	7: 107,631,328 (GRCm39)	I74K	possibly damaging	Het
Pkd1	G	A	17: 24,813,795 (GRCm39)		probably null	Het
Plat	A	G	8: 23,266,844 (GRCm39)	M279V	probably benign	Het
Prkd1	A	T	12: 50,439,693 (GRCm39)	L378*	probably null	Het
Rasgef1a	C	T	6: 118,061,506 (GRCm39)	T157I	probably benign	Het
Rbm22	A	G	18: 60,693,929 (GRCm39)	N11S	probably damaging	Het
Ros1	T	C	10: 51,922,426 (GRCm39)		probably benign	Het
Sema6d	T	A	2: 124,495,562 (GRCm39)	F3Y	unknown	Het
Sis	T	C	3: 72,868,354 (GRCm39)	D112G	probably benign	Het
Slit1	C	A	19: 41,599,483 (GRCm39)	G1023C	probably damaging	Het
Spata31h1	C	A	10: 82,120,568 (GRCm39)	K4147N	probably damaging	Het
Sptb	T	C	12: 76,659,329 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,475,277 (GRCm39)	I4881T	probably benign	Het
Supt6	C	A	11: 78,111,969 (GRCm39)	D1038Y	probably damaging	Het
Tbc1d2b	A	T	9: 90,087,144 (GRCm39)	L945Q	probably damaging	Het
Tgfbr3	G	T	5: 107,297,764 (GRCm39)	A212E	probably damaging	Het
Tipin	A	G	9: 64,211,690 (GRCm39)	T259A	probably benign	Het
Traip	T	C	9: 107,847,671 (GRCm39)	S365P	probably benign	Het
Tst	T	C	15: 78,283,967 (GRCm39)	T287A	probably benign	Het
Vmn1r37	T	A	6: 66,708,393 (GRCm39)	N6K	probably damaging	Het
Vmn2r111	C	A	17: 22,790,966 (GRCm39)	E111*	probably null	Het
Vmn2r17	C	T	5: 109,600,898 (GRCm39)	T732I	probably benign	Het
Vmn2r69	A	T	7: 85,055,836 (GRCm39)	D767E	possibly damaging	Het

Other mutations in Tube1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Tube1	APN	10	39,011,041 (GRCm39)	splice site	probably benign
IGL02437:Tube1	APN	10	39,016,846 (GRCm39)	missense	probably damaging	1.00
IGL03251:Tube1	APN	10	39,010,977 (GRCm39)	splice site	probably benign
R0145:Tube1	UTSW	10	39,021,598 (GRCm39)	missense	possibly damaging	0.89
R0544:Tube1	UTSW	10	39,016,941 (GRCm39)	splice site	probably null
R0834:Tube1	UTSW	10	39,010,168 (GRCm39)	splice site	probably null
R1251:Tube1	UTSW	10	39,010,204 (GRCm39)	nonsense	probably null
R1557:Tube1	UTSW	10	39,021,711 (GRCm39)	critical splice donor site	probably null
R1607:Tube1	UTSW	10	39,020,762 (GRCm39)	missense	possibly damaging	0.89
R2138:Tube1	UTSW	10	39,023,347 (GRCm39)	missense	probably benign	0.04
R2367:Tube1	UTSW	10	39,020,915 (GRCm39)	missense	probably damaging	1.00
R4209:Tube1	UTSW	10	39,020,930 (GRCm39)	splice site	probably null
R4646:Tube1	UTSW	10	39,018,363 (GRCm39)	missense	possibly damaging	0.63
R4840:Tube1	UTSW	10	39,020,842 (GRCm39)	missense	probably benign	0.06
R5267:Tube1	UTSW	10	39,020,552 (GRCm39)	missense	probably benign	0.00
R6331:Tube1	UTSW	10	39,010,097 (GRCm39)	missense	probably benign	0.01
R7602:Tube1	UTSW	10	39,018,262 (GRCm39)	missense	probably benign	0.33
R7778:Tube1	UTSW	10	39,018,294 (GRCm39)	missense	probably benign	0.25
R7824:Tube1	UTSW	10	39,018,294 (GRCm39)	missense	probably benign	0.25
R8218:Tube1	UTSW	10	39,023,375 (GRCm39)	missense	possibly damaging	0.78
R8412:Tube1	UTSW	10	39,021,657 (GRCm39)	missense	possibly damaging	0.95
R9039:Tube1	UTSW	10	39,011,017 (GRCm39)	missense	probably damaging	1.00
X0023:Tube1	UTSW	10	39,020,758 (GRCm39)	missense	probably benign	0.00
Z1177:Tube1	UTSW	10	39,025,453 (GRCm39)	critical splice acceptor site	probably null

Posted On

2013-11-11