Mutagenetix > Incidental Mutation

Incidental Mutation 'R3951:Tubb3'

307946

Institutional Source

Beutler Lab

Gene Symbol

Tubb3

Ensembl Gene

ENSMUSG00000062380

Gene Name

tubulin, beta 3 class III

Synonyms

3200002H15Rik, betaIII-tubulin, Tuj1

MMRRC Submission

040828-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124138292-124148754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124148003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 312 (T312N)

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: T312N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071134
Gene: ENSMUSG00000062380
AA Change: T312N

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

0.6467

Coding Region Coverage

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

Validation Efficiency

100% (55/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,451,158 (GRCm39)		probably benign	Het
4932414N04Rik	T	C	2: 68,494,747 (GRCm39)		probably null	Het
Akr1c18	C	T	13: 4,185,284 (GRCm39)	V283I	probably benign	Het
Atp2b2	T	A	6: 113,737,792 (GRCm39)	M861L	possibly damaging	Het
Cdh23	T	C	10: 60,493,105 (GRCm39)	Y3C	probably benign	Het
Clspn	A	G	4: 126,470,172 (GRCm39)	E814G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,914 (GRCm39)	Q97R	probably benign	Het
Dera	A	G	6: 137,814,118 (GRCm39)	Y100C	probably damaging	Het
Ect2	A	T	3: 27,184,269 (GRCm39)	D517E	probably benign	Het
Epha4	A	T	1: 77,376,353 (GRCm39)	Y509N	probably damaging	Het
Fat2	T	C	11: 55,187,208 (GRCm39)	T1213A	probably benign	Het
Fkbp8	T	A	8: 70,985,311 (GRCm39)	L275Q	probably damaging	Het
Gabrb2	A	G	11: 42,517,708 (GRCm39)	Y510C	probably damaging	Het
Gda	T	C	19: 21,449,809 (GRCm39)	T16A	probably benign	Het
Ggcx	G	A	6: 72,403,541 (GRCm39)	G363R	probably benign	Het
Gm527	T	G	12: 64,970,276 (GRCm39)		probably benign	Het
Hoxb2	A	G	11: 96,244,001 (GRCm39)	E204G	probably damaging	Het
Hsd17b11	G	A	5: 104,140,803 (GRCm39)		probably benign	Het
Kat14	T	C	2: 144,249,249 (GRCm39)		probably benign	Het
Kif16b	C	T	2: 142,549,279 (GRCm39)	V1079I	probably benign	Het
Klhl29	T	A	12: 5,190,660 (GRCm39)	S112C	probably damaging	Het
Lpcat2	G	T	8: 93,591,531 (GRCm39)	M58I	probably benign	Het
Lrrc8d	G	T	5: 105,962,142 (GRCm39)	V851F	probably benign	Het
Ltbp3	T	C	19: 5,806,029 (GRCm39)	V929A	probably damaging	Het
Map3k20	T	G	2: 72,268,644 (GRCm39)	I550M	probably damaging	Het
Map3k9	T	C	12: 81,769,295 (GRCm39)	M941V	probably benign	Het
Myom2	A	T	8: 15,134,556 (GRCm39)	Y453F	probably benign	Het
Ncapd2	T	C	6: 125,163,747 (GRCm39)	K78E	probably damaging	Het
Ncor2	G	T	5: 125,109,320 (GRCm39)	D1496E	possibly damaging	Het
Ndnf	T	C	6: 65,680,125 (GRCm39)	Y135H	possibly damaging	Het
Ndst1	T	C	18: 60,830,211 (GRCm39)	N633S	probably benign	Het
Nmur2	G	C	11: 55,931,051 (GRCm39)	P220R	probably damaging	Het
Nsd1	G	C	13: 55,416,267 (GRCm39)	E1438Q	probably benign	Het
Or5al7	G	T	2: 85,992,962 (GRCm39)	C110*	probably null	Het
Or5w10	T	C	2: 87,375,409 (GRCm39)	T160A	probably damaging	Het
Or8g2	A	T	9: 39,822,021 (GRCm39)	R307S	probably benign	Het
Or9s23	T	A	1: 92,501,511 (GRCm39)	M206K	possibly damaging	Het
Pom121l2	T	G	13: 22,166,298 (GRCm39)	S190A	probably damaging	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Rtn4ip1	T	A	10: 43,785,893 (GRCm39)		probably null	Het
Scarb1	A	C	5: 125,364,475 (GRCm39)	C85G	probably damaging	Het
Sh2d4b	A	G	14: 40,594,503 (GRCm39)	I159T	probably damaging	Het
Skic3	T	G	13: 76,278,338 (GRCm39)	L551V	probably damaging	Het
Sntg1	C	T	1: 8,853,125 (GRCm39)		probably benign	Het
Sos1	G	A	17: 80,731,610 (GRCm39)	T630I	probably damaging	Het
Spata7	T	A	12: 98,635,732 (GRCm39)	D517E	probably damaging	Het
Tcaf1	T	C	6: 42,655,993 (GRCm39)	T328A	probably benign	Het
Ticrr	T	C	7: 79,331,817 (GRCm39)	L776S	probably damaging	Het
Trpc2	T	A	7: 101,742,781 (GRCm39)	M597K	probably damaging	Het
Ubr4	G	A	4: 139,120,405 (GRCm39)	V277M	probably damaging	Het
Uhrf2	G	A	19: 30,057,261 (GRCm39)	R473Q	probably damaging	Het
Vmn2r43	T	A	7: 8,258,319 (GRCm39)	H298L	probably benign	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
R4609:Tubb3	UTSW	8	124,147,658 (GRCm39)	missense	probably damaging	1.00
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'- AAGCTGGCTGTGAACATGG -3'
(R):5'- ACTGCTCCGAGATGCGTTTG -3'

Sequencing Primer
(F):5'- TGAACATGGTGCCGTTCC -3'
(R):5'- AGATGCGTTTGAACAGCTCC -3'

Posted On

2015-04-17