Mutagenetix > Incidental Mutation

Incidental Mutation 'R7422:Tubb1'

575712

Institutional Source

Beutler Lab

Gene Symbol

Tubb1

Ensembl Gene

ENSMUSG00000016255

Gene Name

tubulin, beta 1 class VI

Synonyms

2810484G07Rik

MMRRC Submission

045500-MU

Accession Numbers

Essential gene?

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

Stock #

R7422 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

174292488-174299675 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 174298825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 169 (V169A)

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

possibly damaging
Transcript: ENSMUST00000016399
AA Change: V169A

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000016399
Gene: ENSMUSG00000016255
AA Change: V169A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (98/101)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,771,885 (GRCm39)	C456S	probably damaging	Het
4930524J08Rik	T	C	5: 100,127,068 (GRCm39)		probably benign	Het
Adam28	T	G	14: 68,864,326 (GRCm39)	R492S	probably damaging	Het
Adarb2	G	A	13: 8,807,313 (GRCm39)	A705T	possibly damaging	Het
Adprhl1	T	C	8: 13,272,873 (GRCm39)	D1295G	probably benign	Het
Aldh3b3	A	G	19: 4,016,476 (GRCm39)	I365V	probably benign	Het
Aldh8a1	T	C	10: 21,264,996 (GRCm39)	F208L	possibly damaging	Het
Ap3b1	G	A	13: 94,664,673 (GRCm39)	V871I	unknown	Het
Apol7e	A	T	15: 77,598,552 (GRCm39)	R6*	probably null	Het
Arfgap3	T	C	15: 83,191,150 (GRCm39)	E456G	probably damaging	Het
Arhgef1	T	C	7: 24,615,461 (GRCm39)	L285P	probably benign	Het
Arhgef7	T	A	8: 11,850,861 (GRCm39)	C315S	probably benign	Het
Atp9a	A	T	2: 168,490,513 (GRCm39)	L829Q	probably damaging	Het
Babam2	T	A	5: 31,888,393 (GRCm39)		probably null	Het
Bptf	C	T	11: 106,951,384 (GRCm39)	R2185H	probably damaging	Het
Brd9	A	C	13: 74,102,697 (GRCm39)	M473L	probably benign	Het
C7	T	C	15: 5,041,538 (GRCm39)	H456R	probably benign	Het
Cabp7	C	A	11: 4,688,856 (GRCm39)	A205S	probably damaging	Het
Catsperb	A	G	12: 101,554,293 (GRCm39)	I662M	probably damaging	Het
Ccl21a	T	C	4: 42,773,906 (GRCm39)	M5V	probably benign	Het
Cdyl	G	T	13: 36,042,177 (GRCm39)	R405L	possibly damaging	Het
Cep89	T	C	7: 35,127,672 (GRCm39)	L538P	probably damaging	Het
Cercam	A	G	2: 29,762,892 (GRCm39)	M209V	possibly damaging	Het
Chfr	T	A	5: 110,310,571 (GRCm39)		probably null	Het
Cntnap5c	T	A	17: 58,717,226 (GRCm39)	Y1269*	probably null	Het
Col6a2	G	T	10: 76,439,170 (GRCm39)	C833*	probably null	Het
Cpeb3	T	A	19: 37,151,900 (GRCm39)	I159F	probably benign	Het
Cplx2	G	A	13: 54,526,663 (GRCm39)	E24K	possibly damaging	Het
Ctsb	A	G	14: 63,379,752 (GRCm39)	T332A	probably benign	Het
Cyp2j12	T	A	4: 96,029,222 (GRCm39)	T20S	probably benign	Het
Dcst2	T	A	3: 89,273,993 (GRCm39)	H181Q	probably damaging	Het
Dnm1l	T	C	16: 16,136,338 (GRCm39)	I411V	probably benign	Het
Dock5	T	A	14: 68,046,479 (GRCm39)	I768F	probably benign	Het
Ecel1	A	G	1: 87,077,334 (GRCm39)	Y625H	probably damaging	Het
Efl1	T	G	7: 82,330,587 (GRCm39)	S253R	probably damaging	Het
Elmod1	T	A	9: 53,820,127 (GRCm39)	D287V	probably damaging	Het
Fam171a2	T	C	11: 102,329,491 (GRCm39)	S423G	probably benign	Het
Fbxo8	A	T	8: 57,022,317 (GRCm39)		probably null	Het
Flnc	G	T	6: 29,455,470 (GRCm39)	G2040W	probably damaging	Het
Fras1	C	T	5: 96,821,458 (GRCm39)	A1405V	probably benign	Het
Frem3	A	C	8: 81,342,392 (GRCm39)	I1562L	probably benign	Het
Fxr1	C	T	3: 34,103,369 (GRCm39)	A233V	probably damaging	Het
H1f9	A	G	11: 94,859,184 (GRCm39)	R160G	possibly damaging	Het
Helb	A	G	10: 119,944,799 (GRCm39)	F246L	probably damaging	Het
Hoxb6	G	T	11: 96,183,510 (GRCm39)		probably benign	Het
Hspa2	A	G	12: 76,452,884 (GRCm39)	E526G	probably damaging	Het
Hyal5	A	T	6: 24,875,983 (GRCm39)		probably benign	Het
Ints6	A	T	14: 62,942,224 (GRCm39)	V503E	probably benign	Het
Ints9	C	T	14: 65,269,747 (GRCm39)	T479I	possibly damaging	Het
Jag1	C	T	2: 136,926,975 (GRCm39)	R928H	probably benign	Het
Lman2	A	T	13: 55,499,338 (GRCm39)	I179N	probably damaging	Het
Lta	T	C	17: 35,422,805 (GRCm39)	S173G	probably benign	Het
Mki67	G	A	7: 135,300,099 (GRCm39)	P1645L	probably damaging	Het
Mrc2	A	T	11: 105,183,609 (GRCm39)		probably benign	Het
Muc4	T	A	16: 32,754,689 (GRCm38)	M1521K	probably benign	Het
Mucl3	T	A	17: 35,949,312 (GRCm39)	T96S	probably benign	Het
Mylk3	T	G	8: 86,081,873 (GRCm39)	D438A	probably benign	Het
Myo7a	T	A	7: 97,700,833 (GRCm39)		probably null	Het
Nsmce4a	G	T	7: 130,135,547 (GRCm39)	Q342K	probably benign	Het
Or10ac1	A	G	6: 42,515,053 (GRCm39)	I301T	possibly damaging	Het
Or4c124	T	A	2: 89,156,423 (GRCm39)	I34F	probably benign	Het
Or5p60	A	G	7: 107,724,068 (GRCm39)	L134P	probably damaging	Het
Or6c65	A	T	10: 129,604,136 (GRCm39)	Y257F	possibly damaging	Het
Osbpl6	T	A	2: 76,423,730 (GRCm39)	F864L	probably damaging	Het
Pla2g4a	A	G	1: 149,808,438 (GRCm39)	S2P	probably benign	Het
Plce1	T	C	19: 38,640,329 (GRCm39)	L525P	probably damaging	Het
Por	A	T	5: 135,763,773 (GRCm39)	M667L	probably benign	Het
Psma4	T	C	9: 54,862,166 (GRCm39)	Y97H	probably benign	Het
Qtrt1	A	T	9: 21,323,753 (GRCm39)	H126L	probably benign	Het
Rab3a	A	T	8: 71,209,170 (GRCm39)	Y102F	possibly damaging	Het
Rnf212	T	A	5: 108,879,555 (GRCm39)	H87L	probably benign	Het
Rnf216	A	G	5: 143,076,591 (GRCm39)	S98P	probably benign	Het
Ryr1	G	T	7: 28,785,295 (GRCm39)	R1806S	probably benign	Het
Scgb1b3	A	T	7: 31,075,262 (GRCm39)	L37F	probably benign	Het
Sds	T	C	5: 120,617,254 (GRCm39)	S37P	probably damaging	Het
Senp6	A	G	9: 80,021,159 (GRCm39)	R280G	probably damaging	Het
She	T	A	3: 89,761,864 (GRCm39)	I441K	possibly damaging	Het
Slc6a20b	A	G	9: 123,436,682 (GRCm39)	S244P	possibly damaging	Het
Slc9a3	A	T	13: 74,299,004 (GRCm39)	Y141F	probably damaging	Het
Slco6c1	A	T	1: 97,009,207 (GRCm39)	H426Q	probably benign	Het
Smc2	C	A	4: 52,440,301 (GRCm39)	Q16K	probably benign	Het
Sphkap	A	C	1: 83,241,547 (GRCm39)	V1535G	probably benign	Het
Stard9	C	A	2: 120,532,633 (GRCm39)	N2963K	probably benign	Het
Sycp2	C	T	2: 178,035,944 (GRCm39)	A248T	probably damaging	Het
Taar8a	T	C	10: 23,952,762 (GRCm39)	L122P	probably damaging	Het
Tab1	T	A	15: 80,044,445 (GRCm39)	V491E	probably benign	Het
Tanc1	T	C	2: 59,636,688 (GRCm39)	M857T	probably benign	Het
Tcirg1	C	A	19: 3,949,008 (GRCm39)	R427L	possibly damaging	Het
Tmem109	A	C	19: 10,849,124 (GRCm39)	*244G	probably null	Het
Tox2	A	G	2: 163,163,435 (GRCm39)	Y136C		Het
Ubr3	T	C	2: 69,783,886 (GRCm39)		probably null	Het
Vmn1r225	T	A	17: 20,723,059 (GRCm39)	F167I	probably benign	Het
Vmn2r65	A	C	7: 84,595,569 (GRCm39)	W372G	probably damaging	Het
Vps13a	A	T	19: 16,727,537 (GRCm39)	D188E	probably damaging	Het
Vsnl1	G	T	12: 11,376,439 (GRCm39)	Q149K	probably benign	Het
Wdr35	A	G	12: 9,054,105 (GRCm39)	N466S	probably benign	Het
Ywhae	T	A	11: 75,650,169 (GRCm39)	S210R	probably damaging	Het
Zfp28	T	A	7: 6,397,748 (GRCm39)	S728T	probably damaging	Het
Zfpm1	A	G	8: 123,063,698 (GRCm39)	D919G	unknown	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
R5276:Tubb1	UTSW	2	174,299,217 (GRCm39)	missense	probably damaging	0.97
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
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'- AGCTGATCGAAAATGTCATGGATG -3'
(R):5'- ATTGAGCTGACCGGGAAAGC -3'

Sequencing Primer
(F):5'- TCGAAAATGTCATGGATGTGGTAAG -3'
(R):5'- TGATTCCGCTCATGGTCAAGGAC -3'

Posted On

2019-10-07