Mutagenetix > Incidental Mutation

Incidental Mutation 'R5054:Tubb3'

390712

Institutional Source

Beutler Lab

Gene Symbol

Tubb3

Ensembl Gene

ENSMUSG00000062380

Gene Name

tubulin, beta 3 class III

Synonyms

betaIII-tubulin, 3200002H15Rik

MMRRC Submission

042644-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123411424-123422015 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123420868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 180 (V180A)

Ref Sequence

ENSEMBL: ENSMUSP00000071134 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071134] [ENSMUST00000127664] [ENSMUST00000212743] [ENSMUST00000212883]

AlphaFold

Q9ERD7

Predicted Effect

probably damaging
Transcript: ENSMUST00000071134
AA Change: V180A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071134
Gene: ENSMUSG00000062380
AA Change: V180A

Domain	Start	End	E-Value	Type
Tubulin	47	244	8.63e-65	SMART
Tubulin_C	246	383	1.35e-48	SMART
low complexity region	427	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212743

Predicted Effect

probably benign
Transcript: ENSMUST00000212883

Meta Mutation Damage Score

0.9670

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

94% (67/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class III 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 primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit neonatal lethality associated with respiratory distress, abnormal corpus callosum morphology, abnormal cranial nerves, and defective axon guidance. [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
4921517D22Rik	A	G	13: 59,689,501	Y257H	probably damaging	Het
Adam28	C	T	14: 68,617,715	C659Y	probably damaging	Het
Adamtsl2	G	A	2: 27,101,720	E627K	probably damaging	Het
Atad5	T	A	11: 80,094,676	S196R	probably benign	Het
Bcam	T	A	7: 19,756,860		probably benign	Het
Birc6	A	G	17: 74,655,325	H3978R	probably damaging	Het
Btbd7	T	C	12: 102,838,212	I190V	probably benign	Het
Ccdc8	T	C	7: 16,995,045	V153A	probably damaging	Het
Cyp2a5	C	G	7: 26,841,104	R68G	probably damaging	Het
Dock3	T	C	9: 106,937,906	Y1254C	probably damaging	Het
Dync2h1	T	C	9: 7,085,007	E2794G	possibly damaging	Het
Dytn	C	A	1: 63,661,159	V271L	possibly damaging	Het
Eif2s2	A	C	2: 154,892,670		probably null	Het
Fndc7	A	G	3: 108,881,347	S193P	probably damaging	Het
Fzr1	G	A	10: 81,371,419		probably benign	Het
Gm17472	T	C	6: 42,981,004	I69T	probably damaging	Het
Gm5039	T	C	12: 88,321,301	I61V	probably benign	Het
Gmppa	C	A	1: 75,439,371	Y137*	probably null	Het
Gpr45	A	G	1: 43,032,649	I151V	probably benign	Het
H1f0	G	A	15: 79,028,773	A18T	probably damaging	Het
Hbb-bh1	C	T	7: 103,841,856	V114I	probably benign	Het
Impa2	C	A	18: 67,306,727	P98Q	probably damaging	Het
Kazn	T	C	4: 142,108,646	N573D	unknown	Het
Kcna2	A	T	3: 107,104,340	D79V	probably damaging	Het
Kcna7	G	A	7: 45,406,591	R77H	probably damaging	Het
Kif13a	A	G	13: 46,802,646	Y561H	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra1	T	A	6: 130,375,284	Q165L	probably damaging	Het
Mat2b	T	A	11: 40,680,042	R318S	probably damaging	Het
Mgat4d	G	A	8: 83,368,208		probably null	Het
Mtor	T	A	4: 148,556,855		probably null	Het
Nostrin	A	T	2: 69,175,713	Q247L	possibly damaging	Het
Obscn	T	C	11: 59,073,617	E3033G	probably damaging	Het
Pam	C	A	1: 97,821,917	D839Y	probably damaging	Het
Pds5a	A	G	5: 65,637,814	V693A	probably damaging	Het
Pigo	A	T	4: 43,021,337	L535Q	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Ptar1	G	T	19: 23,694,365	R44L	probably damaging	Het
Rad51c	T	C	11: 87,397,754	H201R	probably benign	Het
Rims2	A	T	15: 39,517,869		probably null	Het
Rnf219	C	T	14: 104,508,030	G70E	probably damaging	Het
Rpl22l1	T	G	3: 28,806,836	S67A	possibly damaging	Het
Rps10	A	G	17: 27,630,480	S143P	probably damaging	Het
Rundc1	T	C	11: 101,425,141	V13A	probably benign	Het
Sephs2	C	A	7: 127,273,392	M176I	probably benign	Het
Serpina16	C	T	12: 103,674,930	V179I	probably benign	Het
Serpini2	T	A	3: 75,259,477	T158S	probably damaging	Het
Slc12a3	A	G	8: 94,346,351	R701G	probably damaging	Het
Slc1a6	A	G	10: 78,814,602	E558G	probably damaging	Het
Ssx2ip	T	C	3: 146,430,917		probably benign	Het
Tbr1	A	T	2: 61,806,002	I241F	possibly damaging	Het
Tgfa	G	C	6: 86,270,082		probably null	Het
Tlr12	T	A	4: 128,617,270	K396*	probably null	Het
Tmppe	A	G	9: 114,405,958	I442V	probably benign	Het
Vmn1r222	A	G	13: 23,232,731	V104A	probably damaging	Het
Vmn2r95	G	T	17: 18,451,446	V482L	possibly damaging	Het
Zfp184	G	T	13: 21,959,282	R386L	possibly damaging	Het
Zfp444	T	A	7: 6,189,793	V270E	probably damaging	Het
Zfp985	A	T	4: 147,582,981	Y102F	probably damaging	Het

Other mutations in Tubb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Tubb3	APN	8	123420966	missense	probably benign	0.20
IGL02208:Tubb3	APN	8	123420864	missense	probably damaging	1.00
IGL02253:Tubb3	APN	8	123420820	missense	probably benign	0.17
IGL02669:Tubb3	APN	8	123421117	missense	probably damaging	0.98
F5770:Tubb3	UTSW	8	123411675	splice site	probably benign
PIT4810001:Tubb3	UTSW	8	123421657	missense	possibly damaging	0.72
R1164:Tubb3	UTSW	8	123421447	missense	probably damaging	1.00
R2074:Tubb3	UTSW	8	123421270	missense	probably damaging	1.00
R2075:Tubb3	UTSW	8	123421270	missense	probably damaging	1.00
R2091:Tubb3	UTSW	8	123421678	splice site	probably null
R3012:Tubb3	UTSW	8	123421236	missense	probably damaging	1.00
R3913:Tubb3	UTSW	8	123421009	missense	possibly damaging	0.94
R3951:Tubb3	UTSW	8	123421264	missense	probably damaging	0.99
R4609:Tubb3	UTSW	8	123420919	missense	probably damaging	1.00
R5256:Tubb3	UTSW	8	123421652	missense	probably benign
R5690:Tubb3	UTSW	8	123421306	missense	probably benign	0.14
R7638:Tubb3	UTSW	8	123421161	missense	probably benign	0.04
R8263:Tubb3	UTSW	8	123421129	missense	possibly damaging	0.90
R8320:Tubb3	UTSW	8	123420855	missense	possibly damaging	0.80
R8503:Tubb3	UTSW	8	123421029	missense	probably damaging	0.99
R9030:Tubb3	UTSW	8	123418957	missense	probably damaging	1.00
Z1088:Tubb3	UTSW	8	123421534	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGAGAATTGTGACTGCCTGC -3'
(R):5'- ATGTTCACAGCCAGCTTGC -3'

Sequencing Primer
(F):5'- CAGGGCTTCCAGCTGACAC -3'
(R):5'- CATTGAGCTGACCAGGGAATC -3'

Posted On

2016-06-06