Mutagenetix > Incidental Mutation

Incidental Mutation 'R4415:Tubb1'

326783

Institutional Source

Beutler Lab

Gene Symbol

Tubb1

Ensembl Gene

ENSMUSG00000016255

Gene Name

tubulin, beta 1 class VI

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R4415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

174450695-174457882 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 174457673 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 383 (E383K)

Ref Sequence

ENSEMBL: ENSMUSP00000016399 (fasta)

Gene Model

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

AlphaFold

A2AQ07

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: E383K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000016399
Gene: ENSMUSG00000016255
AA Change: E383K

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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 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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
Ace3	A	T	11: 106,005,121	D631V	probably benign	Het
Adam17	T	C	12: 21,345,701	I274V	possibly damaging	Het
Aebp1	A	G	11: 5,865,451	D303G	probably damaging	Het
B020004C17Rik	T	C	14: 57,017,417	*233R	probably null	Het
Bcl9l	C	T	9: 44,501,879	P127S	possibly damaging	Het
Bdp1	T	C	13: 100,030,861	D2215G	probably damaging	Het
Caly	T	C	7: 140,072,680	T52A	probably damaging	Het
Ccdc125	T	C	13: 100,696,309	S465P	possibly damaging	Het
Cdc23	ACC	AC	18: 34,637,318		probably null	Het
Colq	T	C	14: 31,535,688	K231E	probably damaging	Het
Fam32a	T	A	8: 72,221,941	I77N	probably damaging	Het
Gm597	T	A	1: 28,777,133	Q606L	probably benign	Het
Impdh1	C	T	6: 29,209,222	V49M	probably damaging	Het
Kcnh7	A	G	2: 62,706,073	I1055T	probably damaging	Het
Lad1	A	G	1: 135,828,746	D364G	probably benign	Het
Lama2	G	T	10: 26,989,344	Y947*	probably null	Het
Myo5b	T	A	18: 74,580,408	I108N	probably damaging	Het
Nvl	T	C	1: 181,105,114	T713A	probably benign	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Pappa	A	G	4: 65,305,295	T1236A	probably benign	Het
Rcl1	G	A	19: 29,118,362	V116I	probably benign	Het
Rdh14	G	A	12: 10,391,231		probably null	Het
Rfx2	T	A	17: 56,787,733	T204S	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Ripor1	T	C	8: 105,617,976	S581P	probably benign	Het
Rnf213	T	A	11: 119,483,964	V5084E	probably damaging	Het
Scn9a	A	T	2: 66,526,693	V1077E	probably damaging	Het
Slc15a5	A	G	6: 138,079,756	V54A	probably benign	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Snx19	T	A	9: 30,437,483	L804Q	probably damaging	Het
Specc1l	C	A	10: 75,246,328	N519K	possibly damaging	Het
Stambp	A	T	6: 83,557,482	N274K	probably damaging	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Tacc3	T	G	5: 33,666,684		probably null	Het
Tmem55a	C	T	4: 14,912,463	R191C	probably damaging	Het
Ube3b	A	T	5: 114,412,444	D844V	probably 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
R0117:Tubb1	UTSW	2	174457784	missense	probably benign	0.00
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
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
R9084:Tubb1	UTSW	2	174457404	missense	possibly damaging	0.67
R9331:Tubb1	UTSW	2	174455679	missense	probably damaging	1.00
R9498:Tubb1	UTSW	2	174457610	missense	probably benign	0.09
X0063:Tubb1	UTSW	2	174457295	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTCCGGGGTAAGATGTCCAC -3'
(R):5'- ATCGGCTGCCCTATAGCTTC -3'

Sequencing Primer
(F):5'- CGGGGTAAGATGTCCACCAAGG -3'
(R):5'- AGCTTCTCTCCTAGCTAATGATC -3'

Posted On

2015-07-07