Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Tuba8'

632163

Institutional Source

Beutler Lab

Gene Symbol

Tuba8

Ensembl Gene

ENSMUSG00000030137

Gene Name

tubulin, alpha 8

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121210696-121226854 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121221422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 116 (D116E)

Ref Sequence

ENSEMBL: ENSMUSP00000032233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032233]

AlphaFold

Q9JJZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000032233
AA Change: D116E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000032233
Gene: ENSMUSG00000030137
AA Change: D116E

Domain	Start	End	E-Value	Type
Tubulin	49	246	2.17e-79	SMART
Tubulin_C	248	393	3.76e-56	SMART
low complexity region	441	448	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: This gene encodes a member of the tubulin family of cytoskeletal proteins that form the integral component of microtubules. This gene is preferentially expressed in heart, skeletal muscle and testis. The encoded protein may play a role in liver tumorigenesis in mice. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele appear neurologically normal, progress to adulthood and exhibit normal fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	probably benign	Het

Other mutations in Tuba8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02043:Tuba8	APN	6	121220511	missense	probably benign
IGL02725:Tuba8	APN	6	121225957	nonsense	probably null
IGL03091:Tuba8	APN	6	121220444	missense	probably damaging	1.00
IGL03286:Tuba8	APN	6	121222954	missense	possibly damaging	0.67
R0032:Tuba8	UTSW	6	121225904	missense	probably benign	0.37
R1424:Tuba8	UTSW	6	121220511	missense	probably benign
R1624:Tuba8	UTSW	6	121220426	missense	probably damaging	1.00
R1741:Tuba8	UTSW	6	121222768	missense	possibly damaging	0.95
R1985:Tuba8	UTSW	6	121220520	missense	probably benign	0.00
R2513:Tuba8	UTSW	6	121225973	missense	probably damaging	1.00
R3160:Tuba8	UTSW	6	121222738	missense	possibly damaging	0.80
R3162:Tuba8	UTSW	6	121222738	missense	possibly damaging	0.80
R4074:Tuba8	UTSW	6	121222797	missense	probably damaging	1.00
R4875:Tuba8	UTSW	6	121226083	utr 3 prime	probably benign
R4968:Tuba8	UTSW	6	121220589	missense	probably damaging	1.00
R5073:Tuba8	UTSW	6	121222903	missense	probably damaging	0.99
R5444:Tuba8	UTSW	6	121226101	utr 3 prime	probably benign
R5546:Tuba8	UTSW	6	121222913	nonsense	probably null
R5594:Tuba8	UTSW	6	121225904	missense	possibly damaging	0.82
R5619:Tuba8	UTSW	6	121225895	missense	probably damaging	0.96
R7366:Tuba8	UTSW	6	121222912	missense	probably damaging	1.00
R7489:Tuba8	UTSW	6	121226021	missense	probably damaging	1.00
R7774:Tuba8	UTSW	6	121223389	missense	probably damaging	0.99
R8046:Tuba8	UTSW	6	121222873	missense	probably damaging	1.00
R8284:Tuba8	UTSW	6	121222777	missense	probably damaging	1.00
R9337:Tuba8	UTSW	6	121225864	missense	probably damaging	1.00
R9562:Tuba8	UTSW	6	121223104	missense	probably benign	0.25
R9565:Tuba8	UTSW	6	121223104	missense	probably benign	0.25
Z1177:Tuba8	UTSW	6	121223339	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GAACGTCTCTCCTGGAAACC -3'
(R):5'- TGTTCCTTCTGAGACTTGAACAG -3'

Sequencing Primer
(F):5'- AAACCAGGATCCGAGGGTCC -3'
(R):5'- GATGAGGCCCTAGATTTGAACCTC -3'

Posted On

2020-06-30