Mutagenetix > Incidental Mutation

Incidental Mutation 'R9170:Tubb2a'

696368

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 #

R9170 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34258261-34261991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34260628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 24 (I24L)

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: I24L

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

SMART Domains

Protein: ENSMUSP00000060246
Gene: ENSMUSG00000058672
AA Change: I24L

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	T	C	12: 81,466,516 (GRCm39)	K702E	probably benign	Het
Agbl1	T	C	7: 75,985,069 (GRCm39)	I162T		Het
Agpat2	A	T	2: 26,487,230 (GRCm39)	I101N	possibly damaging	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Arhgap32	G	A	9: 32,162,039 (GRCm39)	R330H	possibly damaging	Het
Asb4	T	A	6: 5,390,775 (GRCm39)	I56N	probably benign	Het
Atp2a2	C	T	5: 122,604,087 (GRCm39)	V449M	possibly damaging	Het
Bend4	A	G	5: 67,575,080 (GRCm39)	L267P	probably damaging	Het
Catspere2	T	A	1: 177,967,949 (GRCm39)	N745K	probably benign	Het
Celf2	A	G	2: 6,554,646 (GRCm39)	F484L	possibly damaging	Het
Chd3	T	C	11: 69,241,648 (GRCm39)	D1495G	possibly damaging	Het
Chrna3	A	T	9: 54,933,671 (GRCm39)	V8D	unknown	Het
Cog3	T	C	14: 75,966,802 (GRCm39)	Y466C	probably damaging	Het
Col5a1	A	G	2: 27,841,363 (GRCm39)	E328G	unknown	Het
Col7a1	A	G	9: 108,785,707 (GRCm39)	Y392C	unknown	Het
Crtc3	A	T	7: 80,248,697 (GRCm39)	N255K	probably damaging	Het
Dnaaf1	T	C	8: 120,302,195 (GRCm39)	I32T	probably benign	Het
Dner	A	T	1: 84,512,647 (GRCm39)	C307S	probably damaging	Het
Dzip3	T	C	16: 48,772,401 (GRCm39)	K423E	possibly damaging	Het
Eif2b4	A	G	5: 31,345,393 (GRCm39)	S414P	probably damaging	Het
Elp4	T	C	2: 105,624,891 (GRCm39)	E334G	probably damaging	Het
Emilin2	T	A	17: 71,587,689 (GRCm39)	N141I	probably benign	Het
Fstl1	T	A	16: 37,647,140 (GRCm39)	V170E	probably damaging	Het
Fxn	A	G	19: 24,244,687 (GRCm39)	I151T	probably damaging	Het
Gtf3c4	A	T	2: 28,730,214 (GRCm39)	V9E	possibly damaging	Het
Ino80d	A	G	1: 63,132,607 (GRCm39)	S19P	probably damaging	Het
Kank3	T	G	17: 34,037,242 (GRCm39)	L370R	probably damaging	Het
Large1	T	A	8: 73,542,645 (GRCm39)	Y693F	probably benign	Het
Lig4	C	A	8: 10,022,202 (GRCm39)	W526L	probably damaging	Het
Mib1	C	T	18: 10,726,437 (GRCm39)	P45S	probably benign	Het
Ndufaf6	T	C	4: 11,070,301 (GRCm39)	K107E	probably benign	Het
Nf1	T	C	11: 79,436,291 (GRCm39)	L1977P	probably damaging	Het
Nme4	G	T	17: 26,314,389 (GRCm39)	A13E	probably benign	Het
Or52s6	G	A	7: 103,091,850 (GRCm39)	P160L	probably damaging	Het
Or52z15	T	A	7: 103,332,404 (GRCm39)	F160I	probably benign	Het
Pappa	G	A	4: 65,258,962 (GRCm39)	R1570Q	probably damaging	Het
Parp6	G	A	9: 59,531,213 (GRCm39)	A32T		Het
Pclo	A	G	5: 14,731,068 (GRCm39)	Q64R		Het
Pde8a	C	T	7: 80,982,619 (GRCm39)	T746I	probably damaging	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pramel21	T	C	4: 143,341,600 (GRCm39)	S10P	possibly damaging	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prf1	A	C	10: 61,136,216 (GRCm39)	D164A	probably damaging	Het
Rarres1	A	G	3: 67,386,924 (GRCm39)	V226A	probably damaging	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Rnf123	A	G	9: 107,948,375 (GRCm39)	L106P	probably damaging	Het
Scnn1b	A	T	7: 121,511,326 (GRCm39)	T338S	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Slc9a5	T	C	8: 106,080,139 (GRCm39)	V94A	probably damaging	Het
Slco4a1	A	G	2: 180,106,478 (GRCm39)	D220G	probably benign	Het
Spata31e2	T	A	1: 26,723,485 (GRCm39)	Q565L	possibly damaging	Het
Sult1c2	T	C	17: 54,269,200 (GRCm39)	D272G	possibly damaging	Het
Tgm1	T	C	14: 55,946,355 (GRCm39)	N427S	probably damaging	Het
Themis	C	A	10: 28,658,233 (GRCm39)	T420N	probably benign	Het
Tnni3	A	T	7: 4,521,376 (GRCm39)	F209L	probably damaging	Het
Ttn	T	A	2: 76,745,912 (GRCm39)	S5046C	probably damaging	Het
Uevld	C	A	7: 46,587,746 (GRCm39)	G318V	probably damaging	Het
Unkl	T	C	17: 25,448,350 (GRCm39)	S308P	probably benign	Het
Vmn1r159	C	A	7: 22,542,765 (GRCm39)	C89F	probably damaging	Het
Wee2	T	G	6: 40,437,977 (GRCm39)	S302A	probably benign	Het
Ydjc	T	C	16: 16,965,666 (GRCm39)	C144R	probably benign	Het
Zc3h12c	A	G	9: 52,027,419 (GRCm39)	S667P	probably benign	Het
Zfp280b	T	A	10: 75,874,651 (GRCm39)	Y177N	probably benign	Het
Zfp354b	C	T	11: 50,814,362 (GRCm39)	E188K	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
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'- AAGCATGCAGAGGTCTTCAG -3'
(R):5'- TAATATGGCCGATGCACTGC -3'

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

Posted On

2022-02-07