Mutagenetix > Incidental Mutation

Incidental Mutation 'R9799:Tubb2a'

735116

Institutional Source

Beutler Lab

Gene Symbol

Tubb2a

Ensembl Gene

ENSMUSG00000058672

Gene Name

tubulin, beta 2A class IIA

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9799 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34258261-34261991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34260607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 31 (D31N)

Ref Sequence

ENSEMBL: ENSMUSP00000060246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040656] [ENSMUST00000056427]

AlphaFold

Q7TMM9

Predicted Effect

probably benign
Transcript: ENSMUST00000040656

SMART Domains

Protein: ENSMUSP00000046168
Gene: ENSMUSG00000038286

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
Pfam:Hydrolase_4	57	208	1.1e-10	PFAM
Pfam:Abhydrolase_1	61	205	2.8e-22	PFAM
Pfam:Abhydrolase_5	62	273	3.9e-20	PFAM
Pfam:Abhydrolase_6	63	285	6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056427
AA Change: D31N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060246
Gene: ENSMUSG00000058672
AA Change: D31N

Domain	Start	End	E-Value	Type
Tubulin	47	244	1.64e-65	SMART
Tubulin_C	246	383	2.39e-49	SMART
low complexity region	431	444	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,132,998 (GRCm39)	Y1309C	probably benign	Het
Adcy2	T	C	13: 68,768,961 (GRCm39)	T1056A	probably benign	Het
Adcy2	T	A	13: 68,805,489 (GRCm39)	R826S	probably damaging	Het
Agxt	T	C	1: 93,063,070 (GRCm39)	W19R	probably benign	Het
Akr1b8	G	A	6: 34,333,278 (GRCm39)	E52K	possibly damaging	Het
Arhgef10	T	C	8: 14,990,268 (GRCm39)	Y248H	probably damaging	Het
Arhgef38	T	C	3: 132,855,391 (GRCm39)	D232G	unknown	Het
Arid4b	T	C	13: 14,358,967 (GRCm39)	S668P	probably benign	Het
Ccdc136	T	A	6: 29,417,505 (GRCm39)	S775R	probably damaging	Het
Ccl25	T	C	8: 4,377,799 (GRCm39)	F20L	unknown	Het
Cimap1a	A	T	7: 140,430,706 (GRCm39)	E254D	probably benign	Het
Cr2	T	A	1: 194,842,988 (GRCm39)	H218L	probably benign	Het
Csnka2ip	T	C	16: 64,298,672 (GRCm39)	K564R	unknown	Het
Cyp2r1	A	G	7: 114,151,207 (GRCm39)	F371L	probably benign	Het
Ddx50	A	T	10: 62,469,812 (GRCm39)	F392I	probably damaging	Het
Dnah7a	T	C	1: 53,557,968 (GRCm39)	T2149A	probably benign	Het
Emx2	A	G	19: 59,448,036 (GRCm39)	Y130C	possibly damaging	Het
Erbin	T	C	13: 103,971,384 (GRCm39)	D744G	probably benign	Het
Gcm2	T	C	13: 41,258,924 (GRCm39)	N140S	probably damaging	Het
Gnai2	C	T	9: 107,512,380 (GRCm39)	A13T	probably benign	Het
Gpr150	T	C	13: 76,204,636 (GRCm39)	Y103C	possibly damaging	Het
Gstp2	A	G	19: 4,091,901 (GRCm39)		probably null	Het
Kdr	A	G	5: 76,117,752 (GRCm39)	I667T	possibly damaging	Het
Lpin1	A	G	12: 16,612,400 (GRCm39)	I534T		Het
Lrrtm3	T	A	10: 63,925,749 (GRCm39)		probably benign	Het
Meiob	C	T	17: 25,042,574 (GRCm39)	T134I	probably benign	Het
Msh2	G	T	17: 88,024,933 (GRCm39)	A604S	probably damaging	Het
Mterf3	T	C	13: 67,062,780 (GRCm39)	T319A	possibly damaging	Het
Myo3a	C	T	2: 22,490,181 (GRCm39)	T1514I	probably damaging	Het
Ndfip2	T	C	14: 105,496,400 (GRCm39)	M98T	possibly damaging	Het
Nfatc2ip	A	G	7: 125,989,739 (GRCm39)	V215A	probably damaging	Het
Or52e19	A	T	7: 102,959,065 (GRCm39)	T46S	probably damaging	Het
Or8k41	A	T	2: 86,313,732 (GRCm39)	M118K	probably damaging	Het
Pabpc6	C	T	17: 9,888,114 (GRCm39)	E146K	probably damaging	Het
Pde3b	A	G	7: 114,122,613 (GRCm39)	Y727C	probably damaging	Het
Pemt	A	G	11: 59,937,174 (GRCm39)	F30L	possibly damaging	Het
Plch1	A	G	3: 63,605,591 (GRCm39)	S1438P	possibly damaging	Het
Pnma2	T	A	14: 67,154,009 (GRCm39)	H144Q	probably benign	Het
Ppp1r14b	A	G	19: 6,952,825 (GRCm39)	N70S	possibly damaging	Het
Psmd1	T	A	1: 86,054,236 (GRCm39)	M725K	possibly damaging	Het
Rab3gap1	A	G	1: 127,858,489 (GRCm39)	K533E	probably benign	Het
Rb1cc1	C	A	1: 6,315,126 (GRCm39)	H426Q	probably damaging	Het
Rimbp3	A	G	16: 17,027,641 (GRCm39)	E355G	possibly damaging	Het
Rxfp1	A	G	3: 79,578,182 (GRCm39)	F170L	probably damaging	Het
Sema3f	G	T	9: 107,562,562 (GRCm39)	A473E	probably damaging	Het
Serpinb3a	T	G	1: 106,974,892 (GRCm39)	I214L	probably benign	Het
Siglec1	G	T	2: 130,915,941 (GRCm39)	P1307Q	probably damaging	Het
Srd5a2	A	C	17: 74,331,535 (GRCm39)	I154S	possibly damaging	Het
Sugp1	A	G	8: 70,523,068 (GRCm39)	E537G	probably damaging	Het
Tbc1d30	T	C	10: 121,142,074 (GRCm39)	E91G	possibly damaging	Het
Tiparp	A	T	3: 65,454,973 (GRCm39)	N373Y	probably benign	Het
Tmem217	A	C	17: 29,745,232 (GRCm39)	I166S	probably damaging	Het
Top1	T	A	2: 160,563,406 (GRCm39)	Y746N	probably damaging	Het
Utrn	T	G	10: 12,585,736 (GRCm39)	I1014L	probably benign	Het
Vtn	T	C	11: 78,392,625 (GRCm39)	I401T	probably benign	Het
Wwc2	G	T	8: 48,321,595 (GRCm39)	H506Q	unknown	Het
Xab2	G	T	8: 3,668,182 (GRCm39)	T132N	probably benign	Het

Other mutations in Tubb2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01683:Tubb2a	APN	13	34,260,530 (GRCm39)	critical splice donor site	probably null
R0233:Tubb2a	UTSW	13	34,259,325 (GRCm39)	missense	possibly damaging	0.50
R0233:Tubb2a	UTSW	13	34,259,325 (GRCm39)	missense	possibly damaging	0.50
R0345:Tubb2a	UTSW	13	34,260,620 (GRCm39)	missense	probably benign
R2033:Tubb2a	UTSW	13	34,259,439 (GRCm39)	missense	probably damaging	1.00
R3732:Tubb2a	UTSW	13	34,259,247 (GRCm39)	missense	probably damaging	1.00
R3836:Tubb2a	UTSW	13	34,259,294 (GRCm39)	missense	probably benign	0.30
R3837:Tubb2a	UTSW	13	34,259,294 (GRCm39)	missense	probably benign	0.30
R3839:Tubb2a	UTSW	13	34,259,294 (GRCm39)	missense	probably benign	0.30
R4879:Tubb2a	UTSW	13	34,258,572 (GRCm39)	missense	probably benign	0.02
R4936:Tubb2a	UTSW	13	34,259,240 (GRCm39)	nonsense	probably null
R5537:Tubb2a	UTSW	13	34,259,434 (GRCm39)	missense	probably benign	0.07
R5889:Tubb2a	UTSW	13	34,259,451 (GRCm39)	missense	possibly damaging	0.92
R6102:Tubb2a	UTSW	13	34,259,326 (GRCm39)	missense	probably benign	0.00
R6475:Tubb2a	UTSW	13	34,259,442 (GRCm39)	missense	possibly damaging	0.91
R7206:Tubb2a	UTSW	13	34,259,505 (GRCm39)	missense	possibly damaging	0.80
R7254:Tubb2a	UTSW	13	34,258,515 (GRCm39)	missense	probably damaging	1.00
R7260:Tubb2a	UTSW	13	34,259,397 (GRCm39)	missense	probably damaging	1.00
R7631:Tubb2a	UTSW	13	34,259,227 (GRCm39)	missense	probably damaging	0.99
R7734:Tubb2a	UTSW	13	34,258,776 (GRCm39)	missense	probably benign	0.06
R7815:Tubb2a	UTSW	13	34,258,962 (GRCm39)	missense	probably benign	0.10
R7850:Tubb2a	UTSW	13	34,258,554 (GRCm39)	missense	probably damaging	1.00
R9091:Tubb2a	UTSW	13	34,258,578 (GRCm39)	missense	probably damaging	1.00
R9170:Tubb2a	UTSW	13	34,260,628 (GRCm39)	missense	probably benign
R9270:Tubb2a	UTSW	13	34,258,578 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGCAGAGGTCTTCAGGAATTATG -3'
(R):5'- CATAATATGGCCGATGCACTGC -3'

Sequencing Primer
(F):5'- GAAAGCGAGACTGACATC -3'
(R):5'- GCACTGCGCATTCCCAAG -3'

Posted On

2022-11-14