Mutagenetix > Incidental Mutation

Incidental Mutation 'R1251:Tube1'

151766

Institutional Source

Beutler Lab

Gene Symbol

Tube1

Ensembl Gene

ENSMUSG00000019845

Gene Name

epsilon-tubulin 1

Synonyms

MMRRC Submission

039318-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.920) question?

Stock #

R1251 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39133976-39152542 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 39134208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 10 (G10*)

Ref Sequence

ENSEMBL: ENSMUSP00000150602 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019991] [ENSMUST00000063204] [ENSMUST00000124941] [ENSMUST00000125042] [ENSMUST00000134279] [ENSMUST00000135785] [ENSMUST00000139743] [ENSMUST00000149949] [ENSMUST00000213459]

AlphaFold

Q9D6T1

Predicted Effect

probably null
Transcript: ENSMUST00000019991
AA Change: G10*

SMART Domains

Protein: ENSMUSP00000019991
Gene: ENSMUSG00000019845
AA Change: G10*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000063204

SMART Domains

Protein: ENSMUSP00000063508
Gene: ENSMUSG00000051736

Domain	Start	End	E-Value	Type
Pfam:UPF0731	2	80	4.8e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124941

SMART Domains

Protein: ENSMUSP00000123540
Gene: ENSMUSG00000051736

Domain	Start	End	E-Value	Type
Pfam:UPF0731	2	80	4.8e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125042

SMART Domains

Protein: ENSMUSP00000121708
Gene: ENSMUSG00000051736

Domain	Start	End	E-Value	Type
Pfam:UPF0731	2	48	3.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134279

SMART Domains

Protein: ENSMUSP00000118858
Gene: ENSMUSG00000051736

Domain	Start	End	E-Value	Type
Pfam:UPF0731	2	80	4.8e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135785

SMART Domains

Protein: ENSMUSP00000118928
Gene: ENSMUSG00000051736

Domain	Start	End	E-Value	Type
Pfam:UPF0731	2	80	4.8e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139743

SMART Domains

Protein: ENSMUSP00000118545
Gene: ENSMUSG00000051736

Domain	Start	End	E-Value	Type
Pfam:UPF0731	3	80	4.6e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149949

SMART Domains

Protein: ENSMUSP00000121946
Gene: ENSMUSG00000051736

Domain	Start	End	E-Value	Type
Pfam:UPF0731	2	80	4.8e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213237

Predicted Effect

probably null
Transcript: ENSMUST00000213459
AA Change: G10*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217214

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Acap2	A	T	16: 31,108,171	Y509N	probably damaging	Het
Adcy9	T	A	16: 4,311,531	E497V	probably damaging	Het
Bcat2	T	G	7: 45,575,986	L56R	probably damaging	Het
Ccdc146	T	C	5: 21,293,372	M952V	probably benign	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cfap46	C	T	7: 139,601,265	V2607I	probably benign	Het
Clec18a	T	C	8: 111,081,638	I54V	possibly damaging	Het
Coil	A	G	11: 88,982,299	E455G	possibly damaging	Het
Copg1	A	T	6: 87,890,007	K75*	probably null	Het
Cyp2j12	G	A	4: 96,115,666	Q238*	probably null	Het
D17Wsu92e	C	T	17: 27,786,070		probably null	Het
Eif3i	T	C	4: 129,593,385	E229G	probably damaging	Het
Exoc2	T	A	13: 30,886,276	N411Y	probably benign	Het
Eya2	T	A	2: 165,754,484	M305K	probably damaging	Het
Faim	C	T	9: 98,992,634	T78M	probably damaging	Het
Fgg	T	A	3: 83,012,980	D355E	probably benign	Het
Foxn1	A	G	11: 78,358,785	L638P	probably damaging	Het
Grid2ip	A	T	5: 143,386,015	E664D	possibly damaging	Het
Il1rn	A	G	2: 24,345,570	R21G	probably damaging	Het
Inpp4b	G	A	8: 81,890,753	G220R	probably benign	Het
Irx6	A	G	8: 92,678,253	S250G	possibly damaging	Het
Lyst	T	C	13: 13,634,483	I246T	probably benign	Het
Mcm3	G	A	1: 20,812,672	Q353*	probably null	Het
Mfhas1	A	G	8: 35,591,053	Y894C	probably damaging	Het
Mfsd13a	T	C	19: 46,372,053	L348P	probably damaging	Het
Necab1	A	G	4: 15,111,192		probably null	Het
Nectin3	A	T	16: 46,463,842	S160T	possibly damaging	Het
Npc2	A	G	12: 84,760,884	S67P	probably damaging	Het
Olfr1036	G	A	2: 86,074,820	V27M	probably benign	Het
Olfr513	T	G	7: 108,754,907	F17C	probably damaging	Het
Pcnx3	A	G	19: 5,677,182	F1108L	probably benign	Het
Phf21a	G	A	2: 92,359,199	S601N	probably benign	Het
Pold1	C	T	7: 44,535,051	V842I	probably benign	Het
Rabgap1	A	G	2: 37,543,234		probably null	Het
Setd1a	T	A	7: 127,797,424		probably benign	Het
Sgo2a	A	T	1: 57,999,962		probably null	Het
Sult2a8	T	A	7: 14,425,425	K90*	probably null	Het
Tlr2	T	C	3: 83,838,269	D169G	possibly damaging	Het
Tmem95	A	G	11: 69,876,829	F153S	probably benign	Het
Vmn2r10	T	C	5: 108,996,024	M687V	probably benign	Het
Zc3h8	G	A	2: 128,935,369	P117S	probably benign	Het
Zeb1	T	A	18: 5,705,089	D18E	probably damaging	Het

Other mutations in Tube1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Tube1	APN	10	39145722	splice site	probably benign
IGL01977:Tube1	APN	10	39135045	splice site	probably benign
IGL02437:Tube1	APN	10	39140850	missense	probably damaging	1.00
IGL03251:Tube1	APN	10	39134981	splice site	probably benign
R0145:Tube1	UTSW	10	39145602	missense	possibly damaging	0.89
R0544:Tube1	UTSW	10	39140945	splice site	probably null
R0834:Tube1	UTSW	10	39134172	splice site	probably null
R1557:Tube1	UTSW	10	39145715	critical splice donor site	probably null
R1607:Tube1	UTSW	10	39144766	missense	possibly damaging	0.89
R2138:Tube1	UTSW	10	39147351	missense	probably benign	0.04
R2367:Tube1	UTSW	10	39144919	missense	probably damaging	1.00
R4209:Tube1	UTSW	10	39144934	splice site	probably null
R4646:Tube1	UTSW	10	39142367	missense	possibly damaging	0.63
R4840:Tube1	UTSW	10	39144846	missense	probably benign	0.06
R5267:Tube1	UTSW	10	39144556	missense	probably benign	0.00
R6331:Tube1	UTSW	10	39134101	missense	probably benign	0.01
R7602:Tube1	UTSW	10	39142266	missense	probably benign	0.33
R7778:Tube1	UTSW	10	39142298	missense	probably benign	0.25
R7824:Tube1	UTSW	10	39142298	missense	probably benign	0.25
R8218:Tube1	UTSW	10	39147379	missense	possibly damaging	0.78
R8412:Tube1	UTSW	10	39145661	missense	possibly damaging	0.95
R9039:Tube1	UTSW	10	39135021	missense	probably damaging	1.00
X0023:Tube1	UTSW	10	39144762	missense	probably benign	0.00
Z1177:Tube1	UTSW	10	39149457	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACAAGGGCATTACGACATTGGCTAC -3'
(R):5'- CCTTCTGCCTGTGACTTACAGCAAC -3'

Sequencing Primer
(F):5'- ACGACATTGGCTACTTGCG -3'
(R):5'- cacagcaagtcccaggtcag -3'

Posted On

2014-01-29