Mutagenetix > Incidental Mutation

Incidental Mutation 'R0233:Tubb2a'

65967

Institutional Source

Beutler Lab

Gene Symbol

Tubb2a

Ensembl Gene

ENSMUSG00000058672

Gene Name

tubulin, beta 2A class IIA

Synonyms

MMRRC Submission

038474-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0233 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34258261-34261991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34259325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 155 (I155T)

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: I155T

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000060246
Gene: ENSMUSG00000058672
AA Change: I155T

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

0.4047

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.8%
20x: 81.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,330 (GRCm39)	S212P	probably benign	Het
A730018C14Rik	A	C	12: 112,381,864 (GRCm39)		noncoding transcript	Het
Acsf3	A	G	8: 123,507,031 (GRCm39)	Y108C	probably damaging	Het
Adad1	T	A	3: 37,139,097 (GRCm39)	I389N	possibly damaging	Het
Ankrd27	T	C	7: 35,300,985 (GRCm39)	L95P	probably damaging	Het
Ano5	T	C	7: 51,185,218 (GRCm39)	F46S	possibly damaging	Het
Ap2a1	T	C	7: 44,565,397 (GRCm39)	N114S	probably damaging	Het
Arap1	C	T	7: 101,049,448 (GRCm39)	S970L	possibly damaging	Het
Atad3a	A	T	4: 155,830,524 (GRCm39)	S525T	probably damaging	Het
Bltp1	T	A	3: 37,002,712 (GRCm39)	C1552*	probably null	Het
Cacna2d2	A	T	9: 107,391,869 (GRCm39)	I463F	probably damaging	Het
Casp6	T	A	3: 129,699,624 (GRCm39)	N34K	probably damaging	Het
Ccdc175	A	T	12: 72,152,650 (GRCm39)	F752I	probably benign	Het
Cdhr4	A	G	9: 107,874,133 (GRCm39)	I76V	probably benign	Het
Cox11	C	T	11: 90,535,326 (GRCm39)	T259I	probably damaging	Het
Cuzd1	C	A	7: 130,913,545 (GRCm39)	K357N	possibly damaging	Het
Dnase2b	T	A	3: 146,288,305 (GRCm39)	K263N	probably benign	Het
Dync1h1	T	A	12: 110,607,414 (GRCm39)	D2668E	probably benign	Het
Fam124b	T	C	1: 80,190,703 (GRCm39)	S227G	probably damaging	Het
Fgf21	T	A	7: 45,264,721 (GRCm39)	M4L	probably benign	Het
Flg2	T	A	3: 93,109,104 (GRCm39)	C377*	probably null	Het
Gli2	A	T	1: 118,763,655 (GRCm39)	S1499T	probably damaging	Het
Gm43638	T	C	5: 87,622,860 (GRCm39)	N36S	probably damaging	Het
Gpx5	T	A	13: 21,471,573 (GRCm39)	D210V	probably damaging	Het
H2-T5	A	G	17: 36,478,361 (GRCm39)	Y224H	probably benign	Het
Hoxb5	T	A	11: 96,195,853 (GRCm39)	S234T	probably benign	Het
Irf9	C	A	14: 55,843,551 (GRCm39)	N140K	probably benign	Het
Isg20	C	A	7: 78,566,334 (GRCm39)	D94E	probably damaging	Het
Isg20	C	T	7: 78,564,243 (GRCm39)	T50M	probably damaging	Het
Izumo1	T	C	7: 45,273,592 (GRCm39)	L115P	probably damaging	Het
Krt73	A	T	15: 101,710,451 (GRCm39)	N94K	probably benign	Het
Lgmn	G	T	12: 102,366,248 (GRCm39)	D247E	probably damaging	Het
Lilra6	C	T	7: 3,917,935 (GRCm39)	V70I	possibly damaging	Het
Lrig3	G	A	10: 125,849,395 (GRCm39)		probably null	Het
Lrrc4	T	C	6: 28,829,734 (GRCm39)	H627R	probably benign	Het
Nat9	C	A	11: 115,074,234 (GRCm39)		probably null	Het
Nutm2	A	G	13: 50,621,441 (GRCm39)	D2G	probably benign	Het
Or10j3b	A	T	1: 173,043,868 (GRCm39)	I217F	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or5w8	A	G	2: 87,688,096 (GRCm39)	I192M	probably benign	Het
Pdzd8	A	T	19: 59,288,811 (GRCm39)	M863K	probably damaging	Het
Phlda3	T	C	1: 135,694,559 (GRCm39)	S125P	probably damaging	Het
Pkd1l3	A	T	8: 110,377,412 (GRCm39)	R217*	probably null	Het
Plekhg5	T	C	4: 152,196,676 (GRCm39)	C695R	probably damaging	Het
Pramel24	A	T	4: 143,452,633 (GRCm39)	E21D	possibly damaging	Het
Pyroxd1	A	G	6: 142,300,356 (GRCm39)	E162G	possibly damaging	Het
R3hcc1l	G	A	19: 42,571,360 (GRCm39)		probably null	Het
Rgs12	T	A	5: 35,187,842 (GRCm39)	S500T	probably damaging	Het
Ripor3	T	C	2: 167,834,518 (GRCm39)	D299G	probably damaging	Het
Robo4	T	C	9: 37,313,977 (GRCm39)	L76P	probably damaging	Het
Sbno1	T	C	5: 124,514,289 (GRCm39)	Y1302C	probably damaging	Het
Sec63	A	G	10: 42,699,904 (GRCm39)	I655V	possibly damaging	Het
Serpina11	T	A	12: 103,946,729 (GRCm39)	M389L	probably benign	Het
Sfswap	C	A	5: 129,631,607 (GRCm39)	P745Q	possibly damaging	Het
Slitrk3	C	T	3: 72,955,910 (GRCm39)	S954N	probably benign	Het
Sorbs2	A	G	8: 46,222,866 (GRCm39)	T190A	probably damaging	Het
Sos2	A	T	12: 69,664,104 (GRCm39)	I460N	probably benign	Het
Spink7	T	A	18: 62,727,423 (GRCm39)	I34L	probably benign	Het
Srbd1	A	G	17: 86,365,173 (GRCm39)	S628P	probably damaging	Het
Srm	G	A	4: 148,677,829 (GRCm39)	G156S	probably damaging	Het
Tmc4	T	A	7: 3,669,866 (GRCm39)	Y6F	probably benign	Het
Tmcc2	A	G	1: 132,288,389 (GRCm39)	F433L	probably damaging	Het
Tnxb	T	C	17: 34,918,007 (GRCm39)	F2307L	probably benign	Het
Tsr3	A	G	17: 25,461,484 (GRCm39)	E274G	probably benign	Het
Ttn	T	C	2: 76,725,488 (GRCm39)		probably benign	Het
Tub	T	C	7: 108,628,548 (GRCm39)	V352A	possibly damaging	Het
Usp13	T	A	3: 32,969,813 (GRCm39)		probably null	Het
Vmn1r52	T	G	6: 90,156,593 (GRCm39)	L120R	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,968 (GRCm39)	S179T	probably benign	Het
Vwf	A	T	6: 125,663,473 (GRCm39)	R2805W	possibly damaging	Het
Zfp286	T	C	11: 62,671,219 (GRCm39)	T285A	possibly damaging	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
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
R9799:Tubb2a	UTSW	13	34,260,607 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2013-08-19