Mutagenetix > Incidental Mutation

Incidental Mutation 'R1920:Tubb5'

213001

Institutional Source

Beutler Lab

Gene Symbol

Tubb5

Ensembl Gene

ENSMUSG00000001525

Gene Name

tubulin, beta 5 class I

Synonyms

B130022C14Rik

MMRRC Submission

039938-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.946) question?

Stock #

R1920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36144812-36149193 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36146190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 340 (Y340C)

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: Y340C

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000001566
Gene: ENSMUSG00000001525
AA Change: Y340C

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

Meta Mutation Damage Score

0.8211

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

Validation Efficiency

98% (101/103)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	A	G	1: 183,765,828 (GRCm39)	V77A	probably benign	Het
Actl7a	G	A	4: 56,744,135 (GRCm39)	V221M	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgef10	C	T	8: 15,006,987 (GRCm39)		probably benign	Het
Asgr2	T	C	11: 69,989,123 (GRCm39)	L86P	possibly damaging	Het
Atp12a	A	G	14: 56,624,308 (GRCm39)	R919G	probably benign	Het
Atrn	A	G	2: 130,836,971 (GRCm39)	Y1145C	probably damaging	Het
B3gnt5	T	G	16: 19,588,294 (GRCm39)	L171R	probably benign	Het
Bbof1	T	A	12: 84,457,859 (GRCm39)	N41K	possibly damaging	Het
Bdp1	A	T	13: 100,235,097 (GRCm39)	W166R	probably benign	Het
Bean1	A	T	8: 104,937,742 (GRCm39)	H107L	possibly damaging	Het
Brd4	T	C	17: 32,417,060 (GRCm39)		probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cep78	G	A	19: 15,951,715 (GRCm39)		probably benign	Het
Cfap70	C	T	14: 20,445,020 (GRCm39)	A1087T	probably damaging	Het
Cideb	A	G	14: 55,992,700 (GRCm39)	V72A	probably benign	Het
Cpz	T	C	5: 35,675,012 (GRCm39)	E79G	probably damaging	Het
Crybg1	A	G	10: 43,873,544 (GRCm39)	L1188P	probably damaging	Het
Cuzd1	G	A	7: 130,911,425 (GRCm39)	P518L	probably benign	Het
Cyp2j5	A	T	4: 96,551,491 (GRCm39)	N77K	probably damaging	Het
Cyp4f39	T	G	17: 32,702,265 (GRCm39)	F254C	probably benign	Het
Dkk1	C	A	19: 30,524,731 (GRCm39)	V225L	probably damaging	Het
Dlg5	T	C	14: 24,226,639 (GRCm39)	Y421C	probably damaging	Het
Dll3	T	C	7: 27,998,348 (GRCm39)	T206A	probably benign	Het
Dnhd1	T	C	7: 105,362,614 (GRCm39)	C3766R	probably benign	Het
Dock9	G	T	14: 121,820,792 (GRCm39)	S1534Y	probably damaging	Het
Dst	T	C	1: 34,200,110 (GRCm39)	V96A	probably damaging	Het
F2r	A	G	13: 95,740,698 (GRCm39)	F279S	probably damaging	Het
Farp1	C	A	14: 121,492,908 (GRCm39)	N503K	probably benign	Het
Fbxw2	G	A	2: 34,712,776 (GRCm39)	T95I	probably damaging	Het
Fis1	A	G	5: 136,994,461 (GRCm39)	T50A	probably benign	Het
Frzb	T	G	2: 80,276,772 (GRCm39)	E138A	probably damaging	Het
Fsip2	A	T	2: 82,817,164 (GRCm39)	D4299V	probably benign	Het
Fyco1	C	T	9: 123,659,478 (GRCm39)	D233N	probably damaging	Het
Gmpr	A	G	13: 45,667,997 (GRCm39)		probably benign	Het
Hc	C	T	2: 34,919,407 (GRCm39)		probably benign	Het
Hnrnpa1	T	C	15: 103,150,699 (GRCm39)	M186T	possibly damaging	Het
Kl	A	G	5: 150,906,132 (GRCm39)	K501E	probably benign	Het
Klhl42	A	G	6: 147,009,427 (GRCm39)	N422S	probably damaging	Het
Kmt2d	C	G	15: 98,753,471 (GRCm39)	K127N	probably damaging	Het
Kmt2d	T	A	15: 98,753,472 (GRCm39)	K127M	probably damaging	Het
Krt39	T	A	11: 99,405,461 (GRCm39)	T480S	probably benign	Het
Lims2	T	A	18: 32,088,395 (GRCm39)	C198*	probably null	Het
Mctp1	A	G	13: 76,532,729 (GRCm39)	N26D	possibly damaging	Het
Mdm4	A	G	1: 132,931,538 (GRCm39)	S168P	probably benign	Het
Myo3a	A	G	2: 22,455,008 (GRCm39)	Y71C	probably benign	Het
Nlrp9c	T	A	7: 26,084,319 (GRCm39)	D420V	probably damaging	Het
Ntf3	A	T	6: 126,079,485 (GRCm39)	I7N	possibly damaging	Het
Or10ag52	G	A	2: 87,043,721 (GRCm39)	G162S	probably benign	Het
Or13c25	G	T	4: 52,910,849 (GRCm39)	T315K	probably benign	Het
Or4c119	A	G	2: 88,986,925 (GRCm39)	V198A	probably benign	Het
Or8b38	T	C	9: 37,972,981 (GRCm39)	Y122H	probably damaging	Het
Papln	C	A	12: 83,836,028 (GRCm39)	Y1222*	probably null	Het
Pgm3	T	G	9: 86,440,531 (GRCm39)	I387L	possibly damaging	Het
Pira12	G	C	7: 3,900,871 (GRCm39)	P20R	probably damaging	Het
Pkd1	C	A	17: 24,814,131 (GRCm39)	P4167Q	probably damaging	Het
Plcb4	T	A	2: 135,854,947 (GRCm39)	V1174E	probably damaging	Het
Polr1b	A	G	2: 128,943,031 (GRCm39)	N9D	probably benign	Het
Prkaa2	G	A	4: 104,893,950 (GRCm39)	Q456*	probably null	Het
Ptch2	G	T	4: 116,965,858 (GRCm39)	V425L	probably benign	Het
Ptprh	A	T	7: 4,552,394 (GRCm39)	S957T	probably benign	Het
Riok1	A	G	13: 38,241,177 (GRCm39)	D444G	probably benign	Het
Rrbp1	A	T	2: 143,830,211 (GRCm39)	V652E	probably benign	Het
Rrp36	C	T	17: 46,983,671 (GRCm39)	R47Q	possibly damaging	Het
Sec24c	T	C	14: 20,736,955 (GRCm39)	S304P	probably damaging	Het
Serpinb6b	A	T	13: 33,158,991 (GRCm39)	D64V	possibly damaging	Het
Serpinb9b	A	T	13: 33,223,531 (GRCm39)		probably null	Het
Six6	T	A	12: 72,988,538 (GRCm39)	I237N	probably damaging	Het
Slc25a36	A	T	9: 96,975,135 (GRCm39)	M127K	probably benign	Het
Slc2a10	A	G	2: 165,356,550 (GRCm39)	D70G	probably damaging	Het
Slc2a3	T	A	6: 122,713,700 (GRCm39)	I171F	probably damaging	Het
Smc4	A	G	3: 68,940,401 (GRCm39)	T1087A	probably damaging	Het
Spg21	A	G	9: 65,391,779 (GRCm39)	Y242C	probably damaging	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Stx2	G	A	5: 129,065,903 (GRCm39)	T251M	probably damaging	Het
Svs3b	A	T	2: 164,097,848 (GRCm39)	S158T	probably benign	Het
Synpo	C	T	18: 60,736,661 (GRCm39)	M428I	probably benign	Het
Tasor2	A	T	13: 3,626,612 (GRCm39)	Y1113N	possibly damaging	Het
Tbc1d31	G	A	15: 57,775,760 (GRCm39)	R17H	probably damaging	Het
Tbl3	G	A	17: 24,923,477 (GRCm39)	T284I	probably benign	Het
Tcof1	T	C	18: 60,971,927 (GRCm39)	T127A	possibly damaging	Het
Tgoln1	T	C	6: 72,593,084 (GRCm39)	E132G	probably benign	Het
Timeless	T	C	10: 128,077,583 (GRCm39)	I221T	probably damaging	Het
Tmem176b	C	T	6: 48,815,138 (GRCm39)	A52T	possibly damaging	Het
Tmem192	C	T	8: 65,418,235 (GRCm39)	L207F	probably damaging	Het
Trank1	T	C	9: 111,176,996 (GRCm39)		probably null	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Ubr1	G	A	2: 120,761,449 (GRCm39)	T576I	probably benign	Het
Vcan	T	C	13: 89,841,134 (GRCm39)	E1470G	probably damaging	Het
Vmn1r200	T	A	13: 22,579,663 (GRCm39)	N146K	probably damaging	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Vmn2r61	T	C	7: 41,949,710 (GRCm39)	I710T	possibly damaging	Het
Wipf1	T	A	2: 73,270,499 (GRCm39)	K61N	probably benign	Het
Zfp112	T	C	7: 23,824,662 (GRCm39)	V210A	probably benign	Het
Zfp612	G	A	8: 110,815,095 (GRCm39)	V101M	probably benign	Het
Zfp637	A	G	6: 117,822,681 (GRCm39)	R270G	probably damaging	Het
Zfp652	A	G	11: 95,654,851 (GRCm39)	E418G	possibly damaging	Het
Zfp97	A	G	17: 17,365,265 (GRCm39)	I255V	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
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
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'- TGGTACTCAGAGACGAGGTC -3'
(R):5'- CACTGTGCCTGAACTTACCC -3'

Sequencing Primer
(F):5'- TCACCCGTATACCAGTGGAG -3'
(R):5'- TGTGCCTGAACTTACCCAGCAG -3'

Posted On

2014-07-14