Mutagenetix > Incidental Mutation

Incidental Mutation 'R5276:Tubb1'

403922

Institutional Source

Beutler Lab

Gene Symbol

Tubb1

Ensembl Gene

ENSMUSG00000016255

Gene Name

tubulin, beta 1 class VI

Synonyms

2810484G07Rik

MMRRC Submission

042863-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R5276 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

174292488-174299675 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 174299217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 300 (M300V)

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 damaging
Transcript: ENSMUST00000016399
AA Change: M300V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000016399
Gene: ENSMUSG00000016255
AA Change: M300V

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

Coding Region Coverage

1x: 99.3%
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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	A	G	8: 44,023,457 (GRCm39)	F11S	probably benign	Het
Adipor2	T	A	6: 119,334,182 (GRCm39)	I343F	probably damaging	Het
Ahdc1	C	T	4: 132,790,109 (GRCm39)	P450L	possibly damaging	Het
Akna	A	C	4: 63,286,440 (GRCm39)	V1353G	possibly damaging	Het
Baz2b	G	A	2: 59,792,958 (GRCm39)	T390I	probably benign	Het
Btbd7	T	C	12: 102,804,651 (GRCm39)	K130E	probably benign	Het
Cdc42bpa	A	G	1: 179,965,415 (GRCm39)	Y1101C	probably damaging	Het
Crlf2	T	G	5: 109,705,501 (GRCm39)		probably benign	Het
Ddx59	A	T	1: 136,347,186 (GRCm39)	R281S	probably damaging	Het
Dgcr8	T	G	16: 18,101,635 (GRCm39)	T216P	probably benign	Het
Dsg4	A	T	18: 20,579,896 (GRCm39)	I34F	probably benign	Het
Enpp3	A	G	10: 24,685,814 (GRCm39)	S194P	probably damaging	Het
Entpd8	C	T	2: 24,975,057 (GRCm39)	R463W	probably benign	Het
Fam169a	A	G	13: 97,255,004 (GRCm39)	T407A	probably benign	Het
Fam98b	G	T	2: 117,089,779 (GRCm39)	V99F	possibly damaging	Het
Foxn3	T	A	12: 99,162,687 (GRCm39)	K405*	probably null	Het
Gsdmc	T	C	15: 63,673,806 (GRCm39)	T160A	probably benign	Het
Hdac1	T	C	4: 129,422,716 (GRCm39)		probably null	Het
Igfbp1	A	C	11: 7,151,892 (GRCm39)	T232P	probably damaging	Het
Lcor	T	A	19: 41,573,478 (GRCm39)	H744Q	probably damaging	Het
Mertk	G	C	2: 128,643,234 (GRCm39)	G878R	possibly damaging	Het
Metap2	G	T	10: 93,704,784 (GRCm39)	P281H	possibly damaging	Het
Metap2	T	A	10: 93,704,794 (GRCm39)	T278S	probably benign	Het
Mfn1	T	C	3: 32,618,354 (GRCm39)	V169A	probably benign	Het
Mms22l	A	G	4: 24,578,774 (GRCm39)	D751G	probably damaging	Het
Mpl	A	G	4: 118,312,918 (GRCm39)	V138A	probably benign	Het
Myef2	T	A	2: 124,937,641 (GRCm39)	K533N	probably damaging	Het
Mylk3	C	T	8: 86,082,071 (GRCm39)	G309E	probably damaging	Het
Nid1	T	C	13: 13,643,157 (GRCm39)	V365A	probably damaging	Het
Or4d2	A	T	11: 87,784,018 (GRCm39)	I244N	probably damaging	Het
Or5p57	A	T	7: 107,665,423 (GRCm39)	L164*	probably null	Het
Or7d10	C	A	9: 19,831,917 (GRCm39)	N137K	possibly damaging	Het
Or8g19	T	C	9: 39,055,611 (GRCm39)	C72R	probably damaging	Het
Pbrm1	A	G	14: 30,828,141 (GRCm39)	K1323E	probably damaging	Het
Pcdhga12	G	A	18: 37,899,728 (GRCm39)	D187N	possibly damaging	Het
Phrf1	T	C	7: 140,839,196 (GRCm39)		probably benign	Het
Phtf2	A	G	5: 20,977,195 (GRCm39)	V608A	probably benign	Het
Plec	G	A	15: 76,057,638 (GRCm39)	R4122W	probably damaging	Het
Polm	A	G	11: 5,779,393 (GRCm39)	S441P	probably benign	Het
Prrc2b	T	A	2: 32,104,734 (GRCm39)	V1404E	probably benign	Het
Ptger1	T	G	8: 84,395,974 (GRCm39)	S344A	possibly damaging	Het
Rasef	A	T	4: 73,654,004 (GRCm39)	D401E	probably null	Het
Rbfox3	T	C	11: 118,387,178 (GRCm39)	Y312C	probably damaging	Het
Rbm48	A	G	5: 3,634,759 (GRCm39)	C402R	probably benign	Het
Rhbdl3	G	A	11: 80,210,492 (GRCm39)	A82T	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sidt2	T	A	9: 45,866,075 (GRCm39)	N44Y	probably damaging	Het
Slf2	T	A	19: 44,923,600 (GRCm39)	L138Q	possibly damaging	Het
Spag16	T	C	1: 69,935,742 (GRCm39)		probably null	Het
Sspo	C	T	6: 48,467,401 (GRCm39)	P4188S	probably damaging	Het
Synm	C	T	7: 67,384,437 (GRCm39)	S1075N	probably benign	Het
Tacc2	G	T	7: 130,331,047 (GRCm39)	D2151Y	probably damaging	Het
Tbc1d32	C	A	10: 56,027,914 (GRCm39)	L729F	probably damaging	Het
Tnfsf4	A	G	1: 161,244,584 (GRCm39)	N91S	possibly damaging	Het
Trim63	G	A	4: 134,050,444 (GRCm39)	E243K	probably benign	Het
Trim72	T	G	7: 127,603,714 (GRCm39)	L20R	probably damaging	Het
Ubfd1	C	T	7: 121,668,091 (GRCm39)	A207V	probably damaging	Het
Usp16	T	A	16: 87,267,339 (GRCm39)		probably null	Het
Vmn2r23	A	G	6: 123,689,936 (GRCm39)	T271A	possibly damaging	Het
Vmn2r72	T	A	7: 85,387,462 (GRCm39)	I701F	possibly damaging	Het
Wdfy4	A	G	14: 32,769,232 (GRCm39)	Y2078H	probably damaging	Het
Wdr41	T	C	13: 95,153,958 (GRCm39)		probably null	Het
Zfp955b	A	G	17: 33,522,031 (GRCm39)	Y500C	probably damaging	Het

Other mutations in Tubb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01877:Tubb1	APN	2	174,298,691 (GRCm39)	missense	possibly damaging	0.87
IGL02534:Tubb1	APN	2	174,297,462 (GRCm39)	missense	probably benign	0.04
IGL02535:Tubb1	APN	2	174,299,359 (GRCm39)	missense	probably benign	0.00
IGL03404:Tubb1	APN	2	174,299,241 (GRCm39)	missense	probably damaging	1.00
R0117:Tubb1	UTSW	2	174,299,577 (GRCm39)	missense	probably benign	0.00
R0666:Tubb1	UTSW	2	174,299,548 (GRCm39)	missense	probably damaging	0.98
R0939:Tubb1	UTSW	2	174,297,549 (GRCm39)	missense	probably damaging	1.00
R1163:Tubb1	UTSW	2	174,299,532 (GRCm39)	missense	probably benign
R1317:Tubb1	UTSW	2	174,298,689 (GRCm39)	missense	probably benign	0.16
R1458:Tubb1	UTSW	2	174,292,596 (GRCm39)	critical splice donor site	probably null
R1574:Tubb1	UTSW	2	174,299,215 (GRCm39)	missense	probably benign
R1574:Tubb1	UTSW	2	174,299,215 (GRCm39)	missense	probably benign
R1658:Tubb1	UTSW	2	174,298,416 (GRCm39)	missense	probably damaging	1.00
R1751:Tubb1	UTSW	2	174,298,689 (GRCm39)	missense	probably benign	0.16
R1761:Tubb1	UTSW	2	174,298,689 (GRCm39)	missense	probably benign	0.16
R1869:Tubb1	UTSW	2	174,298,482 (GRCm39)	missense	probably benign	0.00
R1969:Tubb1	UTSW	2	174,297,484 (GRCm39)	missense	possibly damaging	0.92
R2412:Tubb1	UTSW	2	174,298,903 (GRCm39)	missense	possibly damaging	0.71
R4249:Tubb1	UTSW	2	174,297,526 (GRCm39)	missense	probably null	0.93
R4415:Tubb1	UTSW	2	174,299,466 (GRCm39)	missense	probably benign	0.12
R5154:Tubb1	UTSW	2	174,298,657 (GRCm39)	missense	probably benign	0.19
R5730:Tubb1	UTSW	2	174,299,562 (GRCm39)	missense	probably benign
R6008:Tubb1	UTSW	2	174,299,567 (GRCm39)	missense	probably benign	0.00
R6719:Tubb1	UTSW	2	174,299,187 (GRCm39)	missense	probably damaging	1.00
R7422:Tubb1	UTSW	2	174,298,825 (GRCm39)	missense	possibly damaging	0.76
R9084:Tubb1	UTSW	2	174,299,197 (GRCm39)	missense	possibly damaging	0.67
R9331:Tubb1	UTSW	2	174,297,472 (GRCm39)	missense	probably damaging	1.00
R9498:Tubb1	UTSW	2	174,299,403 (GRCm39)	missense	probably benign	0.09
X0063:Tubb1	UTSW	2	174,299,088 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGGAATCACGACTTCACTGC -3'
(R):5'- GGAAGGTAGCTGCCATGTTCAG -3'

Sequencing Primer
(F):5'- GAATCACGACTTCACTGCGCTTTC -3'
(R):5'- TGCCATGTTCAGCCCACG -3'

Posted On

2016-07-22