Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Tuba8'

316460

Institutional Source

Beutler Lab

Gene Symbol

Tuba8

Ensembl Gene

ENSMUSG00000030137

Gene Name

tubulin, alpha 8

Synonyms

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121210696-121226854 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121222797 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 147 (S147T)

Ref Sequence

ENSEMBL: ENSMUSP00000032233 (fasta)

Gene Model

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

AlphaFold

Q9JJZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032233
AA Change: S147T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032233
Gene: ENSMUSG00000030137
AA Change: S147T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124853

Meta Mutation Damage Score

0.9242

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

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
4921504E06Rik	T	C	2: 19,480,590	E422G	probably damaging	Het
5830473C10Rik	T	A	5: 90,592,868		probably null	Het
8430408G22Rik	A	G	6: 116,652,068	N124S	possibly damaging	Het
Ace3	A	G	11: 105,997,214	Y287C	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Chgb	C	A	2: 132,793,927	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,221,217	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,622,947	F254L	possibly damaging	Het
Crb2	G	T	2: 37,786,843	C251F	probably damaging	Het
Crybg3	A	T	16: 59,555,757		probably benign	Het
Cytl1	A	G	5: 37,735,596	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,656,218		probably benign	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Dst	T	C	1: 34,228,461	F4995L	probably damaging	Het
Egf	C	T	3: 129,735,969	R264Q	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ero1l	A	T	14: 45,292,436		probably null	Het
Etl4	T	C	2: 20,809,219		probably benign	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,794,127	D289G	probably damaging	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm5134	T	A	10: 76,008,531	W574R	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Gm5414	T	C	15: 101,625,553	N332D	probably benign	Het
Gnb3	T	A	6: 124,836,979	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Ighv1-4	A	G	12: 114,487,527	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,725,521	Y74*	probably null	Het
Il17f	G	A	1: 20,777,763		probably benign	Het
Itpr2	C	T	6: 146,373,244		probably null	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,914,890	F85Y	probably benign	Het
Lrig3	C	T	10: 126,013,408	T999I	probably benign	Het
Myh7b	T	C	2: 155,618,758	I277T	probably damaging	Het
Myo3b	T	C	2: 70,289,464	F984S	probably damaging	Het
Naip5	G	A	13: 100,246,064	R46W	probably damaging	Het
Nup205	T	A	6: 35,192,040		probably null	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde11a	C	T	2: 76,337,898	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Psg23	A	T	7: 18,607,118	S404T	possibly damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,154,287	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Swt1	A	G	1: 151,394,769	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,671,871	N396S	probably benign	Het
Usp8	A	G	2: 126,752,370	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,156,700	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,787,415	H417L	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	probably damaging	Het
Zmym2	T	C	14: 56,903,004	L100P	probably damaging	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
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
R8134:Tuba8	UTSW	6	121221422	missense	probably benign	0.00
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'- TACTGAGGATGGACTTATGGCAG -3'
(R):5'- TGCGGCAGATGTCGTAGATG -3'

Sequencing Primer
(F):5'- TGGACTTATGGCAGACAGTG -3'
(R):5'- GGCTTCGTTATCCACCATGAAAG -3'

Posted On

2015-05-15