Mutagenetix > Incidental Mutations

Incidental Mutation 'R0117:Tubb1'

20863

Institutional Source

Beutler Lab

Gene Symbol

Tubb1

Ensembl Gene

ENSMUSG00000016255

Gene Name

tubulin, beta 1 class VI

Synonyms

MMRRC Submission

038403-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R0117 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

174450695-174457882 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 174457784 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 420 (S420P)

Ref Sequence

ENSEMBL: ENSMUSP00000016399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016396] [ENSMUST00000016399]

Predicted Effect

probably benign
Transcript: ENSMUST00000016396

SMART Domains

Protein: ENSMUSP00000016396
Gene: ENSMUSG00000016252

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_Eps	2	51	7.8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000016399
AA Change: S420P

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

SMART Domains

Protein: ENSMUSP00000016399
Gene: ENSMUSG00000016255
AA Change: S420P

Domain	Start	End	E-Value	Type
Tubulin	47	244	3.42e-68	SMART
Tubulin_C	246	383	1.84e-41	SMART
low complexity region	433	448	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153132

Meta Mutation Damage Score

0.1554

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.1%

Validation Efficiency

95% (59/62)

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 beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]
PHENOTYPE: Homozygotes have thrombocytopenia resulting from a defect in generating proplatelets. The platelets that are produced have structural and functional defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angptl4	A	T	17: 33,780,802	I141K	probably damaging	Het
Bbs10	T	A	10: 111,299,333	D102E	possibly damaging	Het
Btaf1	A	G	19: 36,969,968	T486A	probably benign	Het
Casp8ap2	A	G	4: 32,640,817	T624A	probably benign	Het
Cep192	T	C	18: 67,850,737		probably null	Het
Cep76	T	C	18: 67,626,674	Y323C	possibly damaging	Het
CK137956	T	A	4: 127,946,792	T374S	possibly damaging	Het
Cyp2b23	A	T	7: 26,673,114	F359I	probably benign	Het
Cyp4f13	G	T	17: 32,930,606	H194Q	probably damaging	Het
Dach1	C	T	14: 98,168,748	G188R	probably damaging	Het
Def8	G	A	8: 123,456,495	A278T	probably damaging	Het
Dscam	T	C	16: 96,673,678	H1228R	probably benign	Het
Eps15	T	A	4: 109,382,819	D667E	probably damaging	Het
Fig4	G	A	10: 41,230,041	R716*	probably null	Het
Fmnl3	G	C	15: 99,322,738		probably benign	Het
Gm10639	C	T	9: 78,304,418	T154I	probably damaging	Het
Gmpr	T	A	13: 45,517,084		probably null	Het
Helz2	C	A	2: 181,232,759	G1981C	probably damaging	Het
Herc2	C	A	7: 56,213,611		probably benign	Het
Htr2a	G	A	14: 74,645,093	R173H	probably damaging	Het
Impg2	A	G	16: 56,261,642	N979S	probably damaging	Het
Kcna2	A	G	3: 107,105,354	Y417C	probably damaging	Het
Lmf1	G	T	17: 25,655,991		probably benign	Het
Lmntd2	G	A	7: 141,210,123	R659C	possibly damaging	Het
Mcm9	A	G	10: 53,537,736	V416A	possibly damaging	Het
Mgarp	G	T	3: 51,396,712		probably benign	Het
Mpp3	G	A	11: 102,000,573	P580S	probably damaging	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Ninl	G	A	2: 150,937,673	R269W	probably damaging	Het
Olfr1098	T	A	2: 86,922,870	I221F	probably damaging	Het
Olfr27	T	A	9: 39,144,850	I250N	probably damaging	Het
Olfr862	T	C	9: 19,884,299	E2G	probably damaging	Het
Pcnt	A	T	10: 76,408,727	L1173*	probably null	Het
Pde6c	A	G	19: 38,151,531	E314G	probably damaging	Het
Phldb1	T	C	9: 44,711,706	M1V	probably null	Het
Pkdrej	T	A	15: 85,816,099		probably null	Het
Plch2	T	A	4: 154,985,358		probably benign	Het
Pld2	G	A	11: 70,557,388	R887Q	probably benign	Het
Plxnb1	A	G	9: 109,105,218	D838G	possibly damaging	Het
Postn	C	T	3: 54,383,481		probably benign	Het
Prl8a8	T	A	13: 27,508,490	I172F	probably damaging	Het
Psmc4	A	T	7: 28,042,740		probably benign	Het
Rabgap1	T	A	2: 37,561,885		probably null	Het
Rapgef2	A	G	3: 79,079,177	S1017P	probably benign	Het
Rbak	G	T	5: 143,173,632	Y555*	probably null	Het
Serpina1c	T	G	12: 103,895,012	*414C	probably null	Het
Sntb1	A	G	15: 55,906,353	V80A	probably benign	Het
Sorl1	A	G	9: 42,033,577	V884A	probably benign	Het
Stmnd1	C	A	13: 46,285,486	Q65K	possibly damaging	Het
Tgm5	C	T	2: 121,075,102		probably null	Het
Tmem189	A	G	2: 167,644,758		probably benign	Het
Tvp23b	T	C	11: 62,879,604		probably benign	Het
Xirp2	C	T	2: 67,517,120	A3235V	possibly damaging	Het
Zc3h15	T	C	2: 83,658,083	S122P	possibly damaging	Het

Other mutations in Tubb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01877:Tubb1	APN	2	174456898	missense	possibly damaging	0.87
IGL02534:Tubb1	APN	2	174455669	missense	probably benign	0.04
IGL02535:Tubb1	APN	2	174457566	missense	probably benign	0.00
IGL03404:Tubb1	APN	2	174457448	missense	probably damaging	1.00
R0666:Tubb1	UTSW	2	174457755	missense	probably damaging	0.98
R0939:Tubb1	UTSW	2	174455756	missense	probably damaging	1.00
R1163:Tubb1	UTSW	2	174457739	missense	probably benign
R1317:Tubb1	UTSW	2	174456896	missense	probably benign	0.16
R1458:Tubb1	UTSW	2	174450803	critical splice donor site	probably null
R1574:Tubb1	UTSW	2	174457422	missense	probably benign
R1574:Tubb1	UTSW	2	174457422	missense	probably benign
R1658:Tubb1	UTSW	2	174456623	missense	probably damaging	1.00
R1751:Tubb1	UTSW	2	174456896	missense	probably benign	0.16
R1761:Tubb1	UTSW	2	174456896	missense	probably benign	0.16
R1869:Tubb1	UTSW	2	174456689	missense	probably benign	0.00
R1969:Tubb1	UTSW	2	174455691	missense	possibly damaging	0.92
R2412:Tubb1	UTSW	2	174457110	missense	possibly damaging	0.71
R4249:Tubb1	UTSW	2	174455733	missense	probably null	0.93
R4415:Tubb1	UTSW	2	174457673	missense	probably benign	0.12
R5154:Tubb1	UTSW	2	174456864	missense	probably benign	0.19
R5276:Tubb1	UTSW	2	174457424	missense	probably damaging	0.97
R5730:Tubb1	UTSW	2	174457769	missense	probably benign
R6008:Tubb1	UTSW	2	174457774	missense	probably benign	0.00
R6719:Tubb1	UTSW	2	174457394	missense	probably damaging	1.00
R7422:Tubb1	UTSW	2	174457032	missense	possibly damaging	0.76
X0063:Tubb1	UTSW	2	174457295	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGCTACCTTCCTGGGCAACAATAC -3'
(R):5'- TGCTAAACGGCTCCTGGCAAAC -3'

Sequencing Primer
(F):5'- TGGGCAACAATACAGCCATC -3'
(R):5'- GCTCCTGGCAAACTTGCAC -3'

Posted On

2013-04-11