Mutagenetix > Incidental Mutation

Incidental Mutation 'R6008:Tubb1'

479579

Institutional Source

Beutler Lab

Gene Symbol

Tubb1

Ensembl Gene

ENSMUSG00000016255

Gene Name

tubulin, beta 1 class VI

Synonyms

2810484G07Rik

MMRRC Submission

044185-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R6008 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

174292488-174299675 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 174299567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 416 (H416Q)

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: H416Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000016399
Gene: ENSMUSG00000016255
AA Change: H416Q

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

0.0983

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.2%

Validation Efficiency

98% (55/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	G	14: 118,727,978 (GRCm39)	L1268P	possibly damaging	Het
Acot3	T	A	12: 84,103,860 (GRCm39)	V223E	probably damaging	Het
Afap1	T	G	5: 36,154,895 (GRCm39)	S680A	probably damaging	Het
Aox1	C	T	1: 58,116,672 (GRCm39)	A801V	probably damaging	Het
Atp8b1	G	T	18: 64,710,687 (GRCm39)	T155K	probably damaging	Het
Bard1	C	A	1: 71,069,909 (GRCm39)	V690F	possibly damaging	Het
Btnl9	C	A	11: 49,073,792 (GRCm39)		probably null	Het
C1rl	A	G	6: 124,470,147 (GRCm39)	N13S	probably benign	Het
Cad	C	A	5: 31,226,456 (GRCm39)	T1166K	probably damaging	Het
Ckap5	T	A	2: 91,393,334 (GRCm39)	M405K	probably damaging	Het
Csn1s1	T	C	5: 87,825,944 (GRCm39)		probably null	Het
Ctnna2	A	G	6: 76,892,811 (GRCm39)	L792P	probably damaging	Het
Dennd3	T	A	15: 73,438,929 (GRCm39)	V1099D	possibly damaging	Het
Dnai2	A	G	11: 114,643,816 (GRCm39)	N482S	probably benign	Het
Dock10	T	C	1: 80,583,890 (GRCm39)	T184A	probably damaging	Het
Ear2	T	A	14: 44,340,546 (GRCm39)	L68H	probably damaging	Het
Edn3	A	G	2: 174,621,525 (GRCm39)	T149A	probably benign	Het
Erf	C	T	7: 24,945,041 (GRCm39)	V131M	probably benign	Het
Esp34	A	G	17: 38,865,118 (GRCm39)		probably benign	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Golga1	A	G	2: 38,937,099 (GRCm39)	V161A	probably benign	Het
Gpr17	T	A	18: 32,080,530 (GRCm39)	T178S	probably benign	Het
Gsg1l2	T	A	11: 67,665,537 (GRCm39)	I35N	possibly damaging	Het
Hmgn3	T	A	9: 82,994,284 (GRCm39)	T46S	probably damaging	Het
Hydin	A	C	8: 111,325,717 (GRCm39)	I4709L	probably benign	Het
Ifna9	A	T	4: 88,510,600 (GRCm39)	L8Q	probably null	Het
Iftap	A	T	2: 101,413,898 (GRCm39)	M133K	possibly damaging	Het
Kpna4	T	C	3: 69,034,066 (GRCm39)	E125G	probably null	Het
Lrriq1	A	G	10: 103,006,325 (GRCm39)	S1267P	probably damaging	Het
Mab21l1	G	T	3: 55,690,518 (GRCm39)	C35F	possibly damaging	Het
Map3k2	A	G	18: 32,336,104 (GRCm39)	D97G	probably damaging	Het
Matcap2	G	A	9: 22,335,422 (GRCm39)	W13*	probably null	Het
Mdn1	T	A	4: 32,741,073 (GRCm39)	I3799N	probably damaging	Het
Mki67	G	A	7: 135,299,158 (GRCm39)	R1959C	probably damaging	Het
Mroh1	A	T	15: 76,335,557 (GRCm39)	H1400L	possibly damaging	Het
Mroh4	T	A	15: 74,497,321 (GRCm39)	K167*	probably null	Het
Mroh8	A	G	2: 157,094,984 (GRCm39)	I334T	probably benign	Het
Or51a25	T	A	7: 102,373,574 (GRCm39)	Y41F	probably damaging	Het
Phf11d	T	A	14: 59,602,898 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,182,097 (GRCm39)	T342I	possibly damaging	Het
Pira12	G	T	7: 3,897,599 (GRCm39)	H499N	probably damaging	Het
Plekhh3	T	C	11: 101,055,591 (GRCm39)	E483G	possibly damaging	Het
Ppp1r3b	G	A	8: 35,851,355 (GRCm39)	A65T	probably damaging	Het
Pramel30	C	T	4: 144,057,777 (GRCm39)	T128I	probably benign	Het
Prkcq	A	G	2: 11,261,097 (GRCm39)	H383R	probably damaging	Het
Pum1	T	C	4: 130,496,158 (GRCm39)	V961A	probably damaging	Het
Scgb2b27	T	C	7: 33,711,561 (GRCm39)	E96G	probably benign	Het
Sel1l2	T	A	2: 140,086,025 (GRCm39)	E522V	probably damaging	Het
Socs4	T	G	14: 47,527,618 (GRCm39)	C184W	probably damaging	Het
Spdye4c	A	T	2: 128,438,553 (GRCm39)	I304F	probably benign	Het
Sptbn2	A	G	19: 4,789,306 (GRCm39)	I1249V	possibly damaging	Het
Sys1	T	C	2: 164,306,507 (GRCm39)	S154P	probably benign	Het
Taf6l	T	C	19: 8,755,530 (GRCm39)	Q275R	possibly damaging	Het
Tas2r107	A	G	6: 131,636,875 (GRCm39)	V58A	possibly damaging	Het
Thada	T	A	17: 84,744,062 (GRCm39)	I749F	probably damaging	Het
Vmn2r109	G	A	17: 20,760,981 (GRCm39)	T792I	probably damaging	Het
Zfp988	A	G	4: 147,416,259 (GRCm39)	Q231R	probably benign	Het
Zmynd8	T	C	2: 165,684,707 (GRCm39)	I182V	possibly damaging	Het
Zzz3	T	C	3: 152,133,788 (GRCm39)	V282A	probably benign	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
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'- CCAACAATGTCAAGGTAGCTG -3'
(R):5'- GGGCTCACTACAGTAAACTCAC -3'

Sequencing Primer
(F):5'- CAAGGTAGCTGTGTGTGACATCC -3'
(R):5'- GGCTGCCCTATAGCTTCT -3'

Posted On

2017-06-26