Mutagenetix > Incidental Mutation

Incidental Mutation 'R5508:Tubb5'

431048

Institutional Source

Beutler Lab

Gene Symbol

Tubb5

Ensembl Gene

ENSMUSG00000001525

Gene Name

tubulin, beta 5 class I

Synonyms

B130022C14Rik

MMRRC Submission

043069-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R5508 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

36144812-36149193 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36145962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 416 (N416S)

Ref Sequence

ENSEMBL: ENSMUSP00000001566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001566] [ENSMUST00000001569] [ENSMUST00000134978] [ENSMUST00000174080]

AlphaFold

P99024

Predicted Effect

probably benign
Transcript: ENSMUST00000001566
AA Change: N416S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000001566
Gene: ENSMUSG00000001525
AA Change: N416S

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: ENSMUST00000001569

SMART Domains

Protein: ENSMUSP00000001569
Gene: ENSMUSG00000059714

Domain	Start	End	E-Value	Type
PHB	84	266	4.92e-18	SMART
low complexity region	287	305	N/A	INTRINSIC
Pfam:Flot	308	404	3.9e-11	PFAM

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

noncoding transcript
Transcript: ENSMUST00000173273

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174297

Predicted Effect

probably benign
Transcript: ENSMUST00000174080

SMART Domains

Protein: ENSMUSP00000134227
Gene: ENSMUSG00000059714

Domain	Start	End	E-Value	Type
PHB	1	218	1.92e-11	SMART
low complexity region	239	257	N/A	INTRINSIC
low complexity region	271	296	N/A	INTRINSIC

Coding Region Coverage

1x: 98.4%
3x: 97.4%
10x: 95.7%
20x: 92.5%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Apc	A	G	18: 34,431,633 (GRCm39)	D344G	probably damaging	Het
Asphd2	A	T	5: 112,534,649 (GRCm39)	F300I	probably damaging	Het
BC016579	T	A	16: 45,453,369 (GRCm39)	T149S	possibly damaging	Het
Bcl6b	A	T	11: 70,116,919 (GRCm39)	H453Q	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Clec4b2	A	G	6: 123,150,001 (GRCm39)		probably benign	Het
Crispld1	G	T	1: 17,823,207 (GRCm39)	C396F	probably damaging	Het
Dnase1l3	A	G	14: 7,968,146 (GRCm38)	V253A	probably damaging	Het
Efhd1	A	G	1: 87,237,516 (GRCm39)	*241W	probably null	Het
Flvcr1	C	T	1: 190,757,656 (GRCm39)	G212D	probably damaging	Het
Golga2	T	A	2: 32,178,199 (GRCm39)	L36*	probably null	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Gtf3c2	G	T	5: 31,331,805 (GRCm39)	C4*	probably null	Het
Kit	G	T	5: 75,810,208 (GRCm39)	C786F	probably damaging	Het
Klf14	T	C	6: 30,934,977 (GRCm39)	H219R	probably damaging	Het
Large2	A	G	2: 92,200,248 (GRCm39)	V122A	possibly damaging	Het
Lct	G	A	1: 128,221,868 (GRCm39)	A1557V	probably damaging	Het
Lrp6	T	G	6: 134,441,479 (GRCm39)	K1162N	probably benign	Het
Mtmr11	G	A	3: 96,071,084 (GRCm39)	R147Q	probably damaging	Het
Pbld2	T	A	10: 62,902,444 (GRCm39)		probably null	Het
Pcdhb3	A	T	18: 37,434,179 (GRCm39)	L48F	probably damaging	Het
Pdcd2	C	T	17: 15,742,001 (GRCm39)	D310N	probably damaging	Het
Phlpp1	G	T	1: 106,292,120 (GRCm39)	R993L	probably benign	Het
Prr36	G	A	8: 4,266,488 (GRCm39)	P21S	probably damaging	Het
Ptprq	C	A	10: 107,522,092 (GRCm39)	V620L	probably benign	Het
Ranbp2	T	A	10: 58,315,827 (GRCm39)	D2182E	probably damaging	Het
Sass6	G	A	3: 116,413,752 (GRCm39)	R485K	probably benign	Het
Scoc	A	T	8: 84,162,571 (GRCm39)	S68T	probably damaging	Het
Speer3	T	A	5: 13,844,678 (GRCm39)	L114I	probably damaging	Het
Ss18l1	C	G	2: 179,699,446 (GRCm39)	Q215E	probably damaging	Het
Stab2	T	C	10: 86,796,143 (GRCm39)	N368S	probably benign	Het
Trim80	T	A	11: 115,335,904 (GRCm39)	S275R	probably benign	Het
Ugt2a3	A	T	5: 87,475,059 (GRCm39)	M395K	probably damaging	Het
Vmn2r61	T	A	7: 41,916,242 (GRCm39)	M285K	possibly damaging	Het
Xpo1	A	G	11: 23,244,645 (GRCm39)	I1008V	probably benign	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
R6326:Tubb5	UTSW	17	36,147,347 (GRCm39)	unclassified	probably benign
R6384:Tubb5	UTSW	17	36,148,938 (GRCm39)	missense	probably damaging	1.00
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'- ACAGGGTAACAACCAGAATGTC -3'
(R):5'- AGCTGTCTGTGACATCCCAC -3'

Sequencing Primer
(F):5'- ATTGAGTGCCTGCCATGTGC -3'
(R):5'- TGTGACATCCCACCGCGTG -3'

Posted On

2016-10-05