Mutagenetix > Incidental Mutation

Incidental Mutation 'R6384:Tubb5'

515524

Institutional Source

Beutler Lab

Gene Symbol

Tubb5

Ensembl Gene

ENSMUSG00000001525

Gene Name

tubulin, beta 5 class I

Synonyms

B130022C14Rik

MMRRC Submission

044533-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R6384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36144812-36149193 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36148938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 3 (E3G)

Ref Sequence

ENSEMBL: ENSMUSP00000001566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001566] [ENSMUST00000082337] [ENSMUST00000134978] [ENSMUST00000174124]

AlphaFold

P99024

Predicted Effect

probably damaging
Transcript: ENSMUST00000001566
AA Change: E3G

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

SMART Domains

Protein: ENSMUSP00000001566
Gene: ENSMUSG00000001525
AA Change: E3G

Domain	Start	End	E-Value	Type
Tubulin	47	244	6.29e-67	SMART
Tubulin_C	246	383	7.25e-49	SMART
low complexity region	428	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000082337

SMART Domains

Protein: ENSMUSP00000080949
Gene: ENSMUSG00000061607

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
FHA	53	105	5.63e-9	SMART
low complexity region	194	215	N/A	INTRINSIC
low complexity region	854	870	N/A	INTRINSIC
low complexity region	969	987	N/A	INTRINSIC
low complexity region	1008	1022	N/A	INTRINSIC
internal_repeat_1	1027	1115	6.7e-11	PROSPERO
internal_repeat_2	1030	1141	2.36e-9	PROSPERO
internal_repeat_1	1266	1354	6.7e-11	PROSPERO
internal_repeat_2	1298	1417	2.36e-9	PROSPERO
low complexity region	1422	1445	N/A	INTRINSIC
low complexity region	1457	1477	N/A	INTRINSIC
BRCT	1502	1579	1.66e-1	SMART
BRCT	1612	1691	2.45e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134978

SMART Domains

Protein: ENSMUSP00000134598
Gene: ENSMUSG00000001525

Domain	Start	End	E-Value	Type
Pfam:Tubulin	1	67	1.6e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173253

Predicted Effect

probably benign
Transcript: ENSMUST00000174124

SMART Domains

Protein: ENSMUSP00000133568
Gene: ENSMUSG00000061607

Domain	Start	End	E-Value	Type
low complexity region	12	18	N/A	INTRINSIC
FHA	53	105	5.63e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a conditional knock-in or knock-out allele exhibit microcephaly due to upper-layer loss, delayed cell cycle progression and apoptosis of neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,790,066 (GRCm39)	T97S	probably benign	Het
Adam34	T	A	8: 44,103,836 (GRCm39)	D603V	probably benign	Het
Adamts5	C	T	16: 85,659,716 (GRCm39)	V859I	probably benign	Het
Alb	T	A	5: 90,620,499 (GRCm39)	D536E	possibly damaging	Het
Amz2	A	G	11: 109,319,860 (GRCm39)	Y82C	probably damaging	Het
Asxl1	T	C	2: 153,233,744 (GRCm39)		probably null	Het
Bach1	C	T	16: 87,516,745 (GRCm39)	Q429*	probably null	Het
Bcl6	A	G	16: 23,793,615 (GRCm39)	Y111H	probably damaging	Het
Ccnj	T	C	19: 40,834,451 (GRCm39)	V338A	probably benign	Het
Cdca3	C	T	6: 124,809,382 (GRCm39)	P174L	probably damaging	Het
Cdk17	T	C	10: 93,047,827 (GRCm39)	L25P	probably damaging	Het
Cdr2	G	A	7: 120,581,351 (GRCm39)		probably null	Het
Cyp2c38	A	T	19: 39,380,737 (GRCm39)		probably null	Het
Ednra	T	C	8: 78,415,723 (GRCm39)	N175D	probably damaging	Het
Elp3	T	C	14: 65,797,660 (GRCm39)	Y337C	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Eps15l1	A	T	8: 73,122,554 (GRCm39)		probably null	Het
F11r	A	G	1: 171,288,508 (GRCm39)	N117S	probably benign	Het
Foxp2	C	T	6: 15,437,947 (GRCm39)	T716I	probably damaging	Het
Gnaq	A	G	19: 16,293,377 (GRCm39)		probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gpr158	T	C	2: 21,831,099 (GRCm39)	M733T	probably damaging	Het
Hdac7	G	A	15: 97,709,387 (GRCm39)	Q48*	probably null	Het
Hmga2	G	A	10: 120,206,612 (GRCm39)		probably benign	Het
Itgb7	A	G	15: 102,132,886 (GRCm39)	V142A	probably benign	Het
Kif5a	T	C	10: 127,078,644 (GRCm39)	N334D	probably damaging	Het
Lrrc47	T	C	4: 154,100,317 (GRCm39)	S298P	probably benign	Het
Map3k1	A	T	13: 111,887,064 (GRCm39)	S1415R	probably damaging	Het
Mdn1	T	A	4: 32,670,607 (GRCm39)	L424Q	probably damaging	Het
Numb	A	C	12: 83,850,748 (GRCm39)	L154R	probably damaging	Het
Or8g27	T	C	9: 39,129,274 (GRCm39)	V207A	probably benign	Het
Or8k30	A	G	2: 86,339,381 (GRCm39)	K193E	probably benign	Het
Pdcd5	G	T	7: 35,346,334 (GRCm39)	A92E	possibly damaging	Het
Pdcl2	C	T	5: 76,478,855 (GRCm39)		probably null	Het
Rbfa	T	C	18: 80,235,996 (GRCm39)	Y251C	probably damaging	Het
Rgsl1	G	A	1: 153,703,291 (GRCm39)	T120I	possibly damaging	Het
Serpina3g	A	G	12: 104,206,655 (GRCm39)	Q152R	probably null	Het
Setx	T	C	2: 29,063,570 (GRCm39)	S2289P	probably damaging	Het
Slc6a16	A	G	7: 44,907,017 (GRCm39)		probably null	Het
Slco1a6	C	T	6: 142,055,105 (GRCm39)	D280N	probably benign	Het
Syde2	T	A	3: 145,704,568 (GRCm39)	Y240N	probably damaging	Het
Synpo2	G	A	3: 122,906,698 (GRCm39)	Q873*	probably null	Het
Tlr2	A	G	3: 83,744,301 (GRCm39)	V594A	probably benign	Het
Ttc16	C	T	2: 32,657,561 (GRCm39)	A512T	probably damaging	Het
Vmn2r112	T	C	17: 22,824,136 (GRCm39)	Y464H	probably damaging	Het
Xcr1	T	A	9: 123,684,847 (GRCm39)	H305L	probably damaging	Het
Yars1	T	G	4: 129,090,771 (GRCm39)		probably null	Het

Other mutations in Tubb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Tubular	UTSW	17	36,146,734 (GRCm39)	missense	probably damaging	0.99
R1666:Tubb5	UTSW	17	36,147,530 (GRCm39)	missense	probably benign	0.05
R1920:Tubb5	UTSW	17	36,146,190 (GRCm39)	missense	probably benign	0.13
R1922:Tubb5	UTSW	17	36,146,190 (GRCm39)	missense	probably benign	0.13
R5508:Tubb5	UTSW	17	36,145,962 (GRCm39)	missense	probably benign	0.01
R6326:Tubb5	UTSW	17	36,147,347 (GRCm39)	unclassified	probably benign
R6478:Tubb5	UTSW	17	36,146,734 (GRCm39)	missense	probably damaging	0.99
X0027:Tubb5	UTSW	17	36,147,583 (GRCm39)	missense	probably benign
Z1176:Tubb5	UTSW	17	36,146,248 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATTAGCTTTCCGAAAATGTGCC -3'
(R):5'- TTAGAACCTTCCTGCGGTCG -3'

Sequencing Primer
(F):5'- TCAGAACGCTAGCTACAAATATGG -3'
(R):5'- CGGTCGTGCTTGCATCTCG -3'

Posted On

2018-05-04