Mutagenetix > Incidental Mutation

Incidental Mutation 'R4609:Tubb3'

344518

Institutional Source

Beutler Lab

Gene Symbol

Tubb3

Ensembl Gene

ENSMUSG00000062380

Gene Name

tubulin, beta 3 class III

Synonyms

3200002H15Rik, betaIII-tubulin, Tuj1

MMRRC Submission

041820-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4609 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124138292-124148754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124147658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 197 (D197G)

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: D197G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071134
Gene: ENSMUSG00000062380
AA Change: D197G

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

0.9750

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	C	15: 85,378,370 (GRCm39)	D91G	unknown	Het
Adam10	T	C	9: 70,647,425 (GRCm39)	Y42H	probably damaging	Het
Baiap3	A	T	17: 25,469,235 (GRCm39)	C183S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bmp1	C	T	14: 70,715,406 (GRCm39)	V910M	probably benign	Het
Brdt	G	A	5: 107,507,802 (GRCm39)	A677T	probably benign	Het
Cadps2	A	T	6: 23,587,578 (GRCm39)	M304K	probably damaging	Het
Car9	A	T	4: 43,507,267 (GRCm39)	D71V	possibly damaging	Het
Chml	A	T	1: 175,514,723 (GRCm39)	Y399*	probably null	Het
Cilk1	T	A	9: 78,075,071 (GRCm39)		probably benign	Het
Clasp1	A	G	1: 118,430,765 (GRCm39)		probably benign	Het
Cntnap5b	G	A	1: 99,700,572 (GRCm39)		probably null	Het
Cpvl	A	T	6: 53,951,605 (GRCm39)		probably null	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Cxcl16	T	C	11: 70,346,255 (GRCm39)	Y226C	probably damaging	Het
Dio3	G	T	12: 110,246,444 (GRCm39)	R260L	probably damaging	Het
Dmxl2	A	G	9: 54,353,796 (GRCm39)	L724P	probably damaging	Het
Dnah7a	A	C	1: 53,495,816 (GRCm39)	F3214V	possibly damaging	Het
Dpy19l4	A	T	4: 11,295,999 (GRCm39)	Y223*	probably null	Het
Dpysl4	T	C	7: 138,678,537 (GRCm39)	V499A	probably damaging	Het
Ets2	A	T	16: 95,512,818 (GRCm39)	K101N	probably benign	Het
Fbn2	A	T	18: 58,323,341 (GRCm39)	Y200*	probably null	Het
Fem1c	A	T	18: 46,639,015 (GRCm39)	I329N	probably damaging	Het
Fhip1b	A	G	7: 105,037,431 (GRCm39)	I384T	probably damaging	Het
Gm8919	T	C	3: 11,724,530 (GRCm39)		noncoding transcript	Het
H2-Q5	A	T	17: 35,616,056 (GRCm39)	H206L	probably benign	Het
Hexa	T	C	9: 59,464,602 (GRCm39)	F164S	probably benign	Het
Hk1	G	T	10: 62,194,194 (GRCm39)		probably benign	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kcnq5	A	T	1: 21,475,292 (GRCm39)		probably null	Het
Krtap10-4	A	T	10: 77,662,630 (GRCm39)		probably benign	Het
Maml3	G	T	3: 51,763,013 (GRCm39)	H650Q	probably damaging	Het
Mief1	C	A	15: 80,132,454 (GRCm39)	P112Q	probably benign	Het
Morc3	A	G	16: 93,661,856 (GRCm39)	E472G	probably benign	Het
Nap1l1	T	A	10: 111,328,741 (GRCm39)	Y223*	probably null	Het
Nfix	A	T	8: 85,453,119 (GRCm39)	W312R	probably damaging	Het
Nfkbie	A	T	17: 45,869,510 (GRCm39)	N155I	probably damaging	Het
Nlgn2	A	T	11: 69,724,912 (GRCm39)	M118K	probably damaging	Het
Nlrp5	A	T	7: 23,117,173 (GRCm39)	Y299F	probably benign	Het
Nnt	T	C	13: 119,494,072 (GRCm39)	I556V	possibly damaging	Het
Oasl2	A	T	5: 115,037,857 (GRCm39)	I85F	possibly damaging	Het
Ogg1	A	C	6: 113,305,393 (GRCm39)	T69P	probably damaging	Het
Olfml2a	G	T	2: 38,847,733 (GRCm39)	V431L	probably damaging	Het
Or4d5	T	C	9: 40,012,102 (GRCm39)	H228R	possibly damaging	Het
Or5p79	A	T	7: 108,221,711 (GRCm39)	M231L	probably benign	Het
Palb2	G	T	7: 121,723,946 (GRCm39)	A601E	probably benign	Het
Pcdhb20	G	A	18: 37,638,849 (GRCm39)	M458I	probably benign	Het
Pde11a	T	C	2: 76,121,585 (GRCm39)	D332G	possibly damaging	Het
Pkd1l1	C	T	11: 8,908,964 (GRCm39)	E347K	unknown	Het
Pou2af1	G	A	9: 51,149,525 (GRCm39)	V206I	possibly damaging	Het
Prr16	A	G	18: 51,251,139 (GRCm39)	D46G	possibly damaging	Het
Pus1	A	G	5: 110,928,184 (GRCm39)	M1T	probably null	Het
Pygm	T	A	19: 6,441,439 (GRCm39)	V566D	possibly damaging	Het
Rb1	T	A	14: 73,499,954 (GRCm39)		probably benign	Het
Rhoj	A	T	12: 75,446,980 (GRCm39)	K200*	probably null	Het
Rnf213	A	G	11: 119,328,521 (GRCm39)	I1985V	possibly damaging	Het
Septin11	G	T	5: 93,310,113 (GRCm39)	M305I	possibly damaging	Het
Setdb2	T	C	14: 59,653,153 (GRCm39)	Y383C	probably damaging	Het
Sfpq	G	C	4: 126,915,404 (GRCm39)	Q65H	unknown	Het
Skic8	A	G	9: 54,635,463 (GRCm39)	V46A	probably benign	Het
Stard3nl	G	T	13: 19,554,434 (GRCm39)	A180E	probably damaging	Het
Tanc2	A	G	11: 105,801,066 (GRCm39)	N1094S	probably benign	Het
Trf	C	T	9: 103,089,184 (GRCm39)	A554T	possibly damaging	Het
Trmt13	T	C	3: 116,388,476 (GRCm39)		probably benign	Het
Ube2e3	A	G	2: 78,749,056 (GRCm39)	H135R	probably damaging	Het
Ugt1a10	A	T	1: 87,983,204 (GRCm39)	M1L	possibly damaging	Het
Vmn1r233	A	T	17: 21,214,677 (GRCm39)	I91N	possibly damaging	Het
Vmn2r88	A	T	14: 51,655,531 (GRCm39)	D580V	probably damaging	Het
Vps33b	A	G	7: 79,940,866 (GRCm39)	Y593C	probably benign	Het
Wdr19	A	G	5: 65,385,885 (GRCm39)	T622A	possibly damaging	Het
Wdr3	C	T	3: 100,047,516 (GRCm39)	R853Q	probably damaging	Het
Xirp1	T	C	9: 119,845,572 (GRCm39)	T1104A	probably benign	Het
Yipf1	G	A	4: 107,201,880 (GRCm39)		probably null	Het
Zbtb17	A	G	4: 141,193,809 (GRCm39)	D651G	probably damaging	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zbtb43	A	T	2: 33,344,055 (GRCm39)	M390K	probably benign	Het
Zfp462	C	T	4: 55,011,889 (GRCm39)	T1285M	probably damaging	Het

Other mutations in Tubb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01534:Tubb3	APN	8	124,147,705 (GRCm39)	missense	probably benign	0.20
IGL02208:Tubb3	APN	8	124,147,603 (GRCm39)	missense	probably damaging	1.00
IGL02253:Tubb3	APN	8	124,147,559 (GRCm39)	missense	probably benign	0.17
IGL02669:Tubb3	APN	8	124,147,856 (GRCm39)	missense	probably damaging	0.98
F5770:Tubb3	UTSW	8	124,138,414 (GRCm39)	splice site	probably benign
PIT4810001:Tubb3	UTSW	8	124,148,396 (GRCm39)	missense	possibly damaging	0.72
R1164:Tubb3	UTSW	8	124,148,186 (GRCm39)	missense	probably damaging	1.00
R2074:Tubb3	UTSW	8	124,148,009 (GRCm39)	missense	probably damaging	1.00
R2075:Tubb3	UTSW	8	124,148,009 (GRCm39)	missense	probably damaging	1.00
R2091:Tubb3	UTSW	8	124,148,417 (GRCm39)	splice site	probably null
R3012:Tubb3	UTSW	8	124,147,975 (GRCm39)	missense	probably damaging	1.00
R3913:Tubb3	UTSW	8	124,147,748 (GRCm39)	missense	possibly damaging	0.94
R3951:Tubb3	UTSW	8	124,148,003 (GRCm39)	missense	probably damaging	0.99
R5054:Tubb3	UTSW	8	124,147,607 (GRCm39)	missense	probably damaging	0.99
R5256:Tubb3	UTSW	8	124,148,391 (GRCm39)	missense	probably benign
R5690:Tubb3	UTSW	8	124,148,045 (GRCm39)	missense	probably benign	0.14
R7638:Tubb3	UTSW	8	124,147,900 (GRCm39)	missense	probably benign	0.04
R8263:Tubb3	UTSW	8	124,147,868 (GRCm39)	missense	possibly damaging	0.90
R8320:Tubb3	UTSW	8	124,147,594 (GRCm39)	missense	possibly damaging	0.80
R8503:Tubb3	UTSW	8	124,147,768 (GRCm39)	missense	probably damaging	0.99
R9030:Tubb3	UTSW	8	124,145,696 (GRCm39)	missense	probably damaging	1.00
Z1088:Tubb3	UTSW	8	124,148,273 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

Sequencing Primer
(F):5'- AGCTGACACACTCACTGGG -3'
(R):5'- GGAGGTCGGCATTGAGC -3'

Posted On

2015-09-25