Mutagenetix > Incidental Mutation

Incidental Mutation 'R5889:Tubb2a'

456239

Institutional Source

Beutler Lab

Gene Symbol

Tubb2a

Ensembl Gene

ENSMUSG00000058672

Gene Name

tubulin, beta 2A class IIA

Synonyms

MMRRC Submission

044090-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34258261-34261991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34259451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 113 (V113E)

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

possibly damaging
Transcript: ENSMUST00000056427
AA Change: V113E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060246
Gene: ENSMUSG00000058672
AA Change: V113E

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

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

100% (63/63)

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
4930568D16Rik	T	C	2: 35,244,461 (GRCm39)	E297G	probably damaging	Het
Astn1	C	T	1: 158,427,950 (GRCm39)	P707L	possibly damaging	Het
Cep290	T	C	10: 100,334,936 (GRCm39)	S319P	possibly damaging	Het
Chrna4	A	C	2: 180,670,451 (GRCm39)	L435W	probably damaging	Het
Cilp	C	A	9: 65,187,625 (GRCm39)	A1240D	possibly damaging	Het
Col17a1	A	G	19: 47,637,511 (GRCm39)	F1249S	possibly damaging	Het
Creb3l3	T	C	10: 80,928,367 (GRCm39)		probably benign	Het
Cyp4f40	C	A	17: 32,894,731 (GRCm39)	T432N	probably benign	Het
Dsg1c	T	G	18: 20,416,658 (GRCm39)	I853R	possibly damaging	Het
Ebna1bp2	T	A	4: 118,478,620 (GRCm39)	D34E	probably damaging	Het
Edc4	C	T	8: 106,614,654 (GRCm39)	T112I	possibly damaging	Het
Enpep	T	A	3: 129,106,227 (GRCm39)	Y333F	probably damaging	Het
Exoc6	A	G	19: 37,570,693 (GRCm39)	H291R	probably damaging	Het
Fbln5	G	T	12: 101,731,485 (GRCm39)	N236K	probably damaging	Het
Fndc8	A	T	11: 82,789,555 (GRCm39)	T238S	probably damaging	Het
Frem3	T	C	8: 81,340,917 (GRCm39)	V1070A	probably damaging	Het
Gabra4	A	T	5: 71,729,234 (GRCm39)	N515K	possibly damaging	Het
Gemin5	A	G	11: 58,013,181 (GRCm39)	V1422A	possibly damaging	Het
Gm10118	A	G	10: 63,762,890 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,252,281 (GRCm39)	D177G	probably damaging	Het
Gtf2h4	G	A	17: 35,981,792 (GRCm39)	P147L	possibly damaging	Het
Hgsnat	T	C	8: 26,453,395 (GRCm39)	D265G	probably damaging	Het
Hsd17b4	T	A	18: 50,310,276 (GRCm39)	L513Q	probably damaging	Het
Hsd17b7	A	T	1: 169,783,487 (GRCm39)	M307K	probably benign	Het
Hspa5	T	C	2: 34,664,629 (GRCm39)	V361A	probably damaging	Het
Iqgap2	A	G	13: 95,768,550 (GRCm39)	V1450A	probably benign	Het
Itpr3	A	G	17: 27,334,039 (GRCm39)	E2037G	probably damaging	Het
Itprid2	T	A	2: 79,488,072 (GRCm39)	D718E	probably damaging	Het
Lama5	T	C	2: 179,835,467 (GRCm39)		probably benign	Het
Manba	G	T	3: 135,230,359 (GRCm39)	G311*	probably null	Het
Mettl24	T	A	10: 40,622,486 (GRCm39)	V236E	probably benign	Het
Myh3	A	G	11: 66,977,201 (GRCm39)	D310G	probably damaging	Het
Ncoa4	A	T	14: 31,888,616 (GRCm39)		probably benign	Het
Nop56	G	T	2: 130,117,902 (GRCm39)	R126L	probably damaging	Het
Nos3	C	A	5: 24,573,775 (GRCm39)		probably benign	Het
Or13c7b	T	C	4: 43,820,492 (GRCm39)	M290V	possibly damaging	Het
Pcdhga3	T	A	18: 37,809,662 (GRCm39)	V705D	probably damaging	Het
Prom2	C	T	2: 127,371,331 (GRCm39)	A776T	possibly damaging	Het
Prss48	A	G	3: 85,905,492 (GRCm39)	I127T	probably damaging	Het
Rtca	T	C	3: 116,293,232 (GRCm39)	Y193C	possibly damaging	Het
Samd9l	T	C	6: 3,376,460 (GRCm39)	Y267C	probably damaging	Het
Scube3	A	G	17: 28,379,887 (GRCm39)	R272G	possibly damaging	Het
Sprr1a	G	T	3: 92,391,951 (GRCm39)	H17N	probably benign	Het
Stard3	G	C	11: 98,266,361 (GRCm39)	Q120H	probably benign	Het
Supt6	A	G	11: 78,103,574 (GRCm39)	I1377T	probably damaging	Het
Svop	A	T	5: 114,203,692 (GRCm39)	S30T	probably benign	Het
Syne2	T	A	12: 76,119,026 (GRCm39)	L5882*	probably null	Het
Tanc2	G	T	11: 105,812,633 (GRCm39)	R1359L	probably benign	Het
Tmc7	A	C	7: 118,165,549 (GRCm39)	L55R	probably benign	Het
Trappc11	G	A	8: 47,972,613 (GRCm39)	A320V	probably benign	Het
Ttll8	G	C	15: 88,818,142 (GRCm39)	P178A	probably damaging	Het
Ttn	T	C	2: 76,560,993 (GRCm39)	E20809G	probably damaging	Het
Ube2d1	A	T	10: 71,095,699 (GRCm39)		probably benign	Het
Usp48	T	C	4: 137,343,723 (GRCm39)	V452A	probably benign	Het
Vldlr	T	A	19: 27,217,064 (GRCm39)	I39N	probably damaging	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Zyg11b	C	T	4: 108,094,577 (GRCm39)	W669*	probably null	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
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'- TATCAGAGACCTTGGGTGAGG -3'
(R):5'- TGAGGTCCCTGGATACACTG -3'

Sequencing Primer
(F):5'- ACCTTGGGTGAGGGCATGAC -3'
(R):5'- GTCCCTGGATACACTGACAATATTTC -3'

Posted On

2017-02-15