Mutagenetix > Incidental Mutation

Incidental Mutation 'R3836:Tubb2a'

275661

Institutional Source

Beutler Lab

Gene Symbol

Tubb2a

Ensembl Gene

ENSMUSG00000058672

Gene Name

tubulin, beta 2A class IIA

Synonyms

MMRRC Submission

040891-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3836 (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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028I16Rik	A	G	10: 82,648,219 (GRCm39)		noncoding transcript	Het
Aasdh	A	G	5: 77,026,315 (GRCm39)	V903A	probably benign	Het
Afg2a	T	A	3: 37,487,792 (GRCm39)	Y428N	possibly damaging	Het
Ankrd6	T	A	4: 32,817,531 (GRCm39)	D271V	probably damaging	Het
Ano10	C	T	9: 122,092,829 (GRCm39)	V167M	possibly damaging	Het
Arhgef25	T	C	10: 127,025,605 (GRCm39)	T12A	probably benign	Het
AW551984	T	C	9: 39,509,204 (GRCm39)		probably benign	Het
Bub1	G	T	2: 127,656,806 (GRCm39)	P442Q	probably damaging	Het
Clstn1	A	G	4: 149,722,790 (GRCm39)	E476G	probably damaging	Het
Comp	A	G	8: 70,826,509 (GRCm39)	D28G	probably benign	Het
Crym	A	G	7: 119,800,439 (GRCm39)	V61A	probably benign	Het
Dock4	G	T	12: 40,844,623 (GRCm39)		probably null	Het
Dtna	A	T	18: 23,758,159 (GRCm39)	Q488L	probably damaging	Het
Ecel1	A	C	1: 87,078,378 (GRCm39)	L565R	probably damaging	Het
Extl2	T	C	3: 115,818,006 (GRCm39)	I106T	probably benign	Het
Fam13c	C	T	10: 70,378,478 (GRCm39)	S336L	probably damaging	Het
Fnbp4	A	G	2: 90,577,129 (GRCm39)	T154A	probably damaging	Het
Fsip2	T	C	2: 82,781,290 (GRCm39)	L32P	probably damaging	Het
Gldc	T	A	19: 30,096,075 (GRCm39)		probably benign	Het
Gm12695	T	G	4: 96,650,334 (GRCm39)	T171P	probably damaging	Het
Gm4868	A	C	5: 125,925,014 (GRCm39)		noncoding transcript	Het
Gpam	T	C	19: 55,068,890 (GRCm39)	N450S	probably benign	Het
Gstm5	T	C	3: 107,803,678 (GRCm39)	I37T	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itga11	G	T	9: 62,676,565 (GRCm39)	V918L	probably benign	Het
Itgb2l	T	A	16: 96,227,367 (GRCm39)	M559L	probably benign	Het
Itih1	T	A	14: 30,657,785 (GRCm39)	N429Y	probably damaging	Het
Madd	A	T	2: 90,984,988 (GRCm39)		probably null	Het
Map3k11	A	G	19: 5,740,831 (GRCm39)	E186G	possibly damaging	Het
Mbl2	T	C	19: 30,216,914 (GRCm39)	F242S	probably damaging	Het
Mcph1	A	G	8: 18,672,675 (GRCm39)	T102A	possibly damaging	Het
Mid1ip1	T	C	X: 10,584,620 (GRCm39)	V51A	possibly damaging	Het
Mkln1	A	G	6: 31,445,271 (GRCm39)	D389G	probably damaging	Het
Mmrn1	G	A	6: 60,921,831 (GRCm39)	S96N	probably benign	Het
Myd88	A	G	9: 119,167,259 (GRCm39)		probably benign	Het
Nap1l1	T	A	10: 111,331,183 (GRCm39)		probably null	Het
Nprl3	C	T	11: 32,183,082 (GRCm39)	E502K	probably damaging	Het
Nudt5	T	A	2: 5,871,158 (GRCm39)		probably null	Het
Or52b2	G	A	7: 104,986,417 (GRCm39)	P169S	probably benign	Het
Or5h23	A	G	16: 58,906,586 (GRCm39)	S87P	possibly damaging	Het
Or6c69b	C	T	10: 129,627,039 (GRCm39)	V140M	probably benign	Het
Or8j3	A	G	2: 86,029,006 (GRCm39)	V30A	probably benign	Het
Plaa	T	C	4: 94,475,159 (GRCm39)		probably null	Het
Ptk2b	A	G	14: 66,393,791 (GRCm39)	L894P	probably damaging	Het
Rab8b	A	G	9: 66,755,078 (GRCm39)	S183P	probably benign	Het
Reln	A	G	5: 22,116,012 (GRCm39)	Y2999H	probably damaging	Het
Rims4	A	G	2: 163,760,573 (GRCm39)	S11P	possibly damaging	Het
Scel	A	G	14: 103,829,822 (GRCm39)	K448R	possibly damaging	Het
Serpinb10	A	T	1: 107,463,816 (GRCm39)	T33S	probably benign	Het
Sgip1	A	G	4: 102,724,897 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,807,176 (GRCm39)	M158K	probably damaging	Het
Tmem132d	A	T	5: 127,861,949 (GRCm39)	I724N	probably damaging	Het
Tnrc6c	A	G	11: 117,614,055 (GRCm39)	T738A	probably benign	Het
Tpbg	T	C	9: 85,725,167 (GRCm39)		probably benign	Het
Ubtfl1	A	T	9: 18,320,533 (GRCm39)	E20D	possibly damaging	Het
Usp14	A	G	18: 10,024,532 (GRCm39)		probably null	Het
Vmn2r25	C	A	6: 123,830,044 (GRCm39)	D36Y	probably damaging	Het
Wdhd1	A	G	14: 47,482,511 (GRCm39)	V946A	probably benign	Het
Wnk1	T	C	6: 119,927,004 (GRCm39)	E1265G	probably damaging	Het
Zmynd8	G	A	2: 165,700,019 (GRCm39)	T14I	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
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
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