Mutagenetix > Incidental Mutation

Incidental Mutation 'R3839:Tubb2a'

277067

Institutional Source

Beutler Lab

Gene Symbol

Tubb2a

Ensembl Gene

ENSMUSG00000058672

Gene Name

tubulin, beta 2A class IIA

Synonyms

MMRRC Submission

040892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34258261-34261991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34259294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 165 (N165K)

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: N165K

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060246
Gene: ENSMUSG00000058672
AA Change: N165K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223251

Meta Mutation Damage Score

0.0683

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

98% (48/49)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
Abraxas2	T	A	7: 132,484,867 (GRCm39)	S303R	probably benign	Het
Ackr3	G	A	1: 90,141,850 (GRCm39)	S103N	probably damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
Aspm	C	T	1: 139,405,792 (GRCm39)	H1560Y	probably benign	Het
Atg10	A	T	13: 91,085,499 (GRCm39)	I150K	probably damaging	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Cald1	A	T	6: 34,722,700 (GRCm39)	D122V	probably damaging	Het
Cc2d2a	T	C	5: 43,876,056 (GRCm39)	V1011A	probably benign	Het
Cdh9	G	T	15: 16,823,524 (GRCm39)	E169*	probably null	Het
Cmbl	T	C	15: 31,582,144 (GRCm39)	V47A	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Ctnnd2	T	A	15: 31,009,174 (GRCm39)		probably null	Het
Cyp4a10	A	C	4: 115,382,544 (GRCm39)	E278A	possibly damaging	Het
Ddx56	T	C	11: 6,217,712 (GRCm39)	D3G	probably benign	Het
Dnajb2	G	A	1: 75,218,124 (GRCm39)		probably null	Het
Eif3d	T	A	15: 77,848,300 (GRCm39)	T211S	probably benign	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Garnl3	C	T	2: 32,879,558 (GRCm39)	G923S	probably benign	Het
Gcnt4	A	T	13: 97,083,522 (GRCm39)	R273*	probably null	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Glra2	C	T	X: 164,072,612 (GRCm39)	V85I	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Gpr156	T	A	16: 37,808,962 (GRCm39)	V228D	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmgcr	A	G	13: 96,795,597 (GRCm39)	I324T	probably benign	Het
Itga3	A	G	11: 94,948,095 (GRCm39)		probably null	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Klhl40	A	G	9: 121,609,482 (GRCm39)	Y453C	possibly damaging	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Msn	C	A	X: 95,203,805 (GRCm39)	Q303K	probably damaging	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Rala	A	T	13: 18,067,759 (GRCm39)	C91S	probably damaging	Het
Rps9	A	G	7: 3,709,823 (GRCm39)		probably benign	Het
Sdr16c5	C	A	4: 4,006,601 (GRCm39)	M230I	probably damaging	Het
Sec14l3	A	G	11: 4,021,544 (GRCm39)		probably null	Het
Senp2	T	C	16: 21,828,485 (GRCm39)	S32P	probably damaging	Het
Skor1	A	C	9: 63,051,730 (GRCm39)	S746R	probably damaging	Het
Slc17a4	C	T	13: 24,085,752 (GRCm39)	R387H	probably benign	Het
Slc47a1	G	T	11: 61,243,884 (GRCm39)		probably benign	Het
Slit3	A	T	11: 35,399,064 (GRCm39)	N143I	probably benign	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn2r109	A	G	17: 20,774,704 (GRCm39)	V217A	probably damaging	Het
Zfp108	A	G	7: 23,959,981 (GRCm39)	I191V	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
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
R9799:Tubb2a	UTSW	13	34,260,607 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGAGATCGCCATAGGTGGG -3'
(R):5'- TTCTCTTTCAGGCCAGAGTGG -3'

Sequencing Primer
(F):5'- CCATAGGTGGGTGTGGTCAGC -3'
(R):5'- TTCAGGCCAGAGTGGTGCAG -3'

Posted On

2015-04-06