Mutagenetix > Incidental Mutation

Incidental Mutation 'R1741:Tuba8'

200348

Institutional Source

Beutler Lab

Gene Symbol

Tuba8

Ensembl Gene

ENSMUSG00000030137

Gene Name

tubulin, alpha 8

Synonyms

MMRRC Submission

039773-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121210696-121226854 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121222768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 137 (I137N)

Ref Sequence

ENSEMBL: ENSMUSP00000032233 (fasta)

Gene Model

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

AlphaFold

Q9JJZ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032233
AA Change: I137N

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000032233
Gene: ENSMUSG00000030137
AA Change: I137N

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 92.9%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034E13Rik	A	G	18: 52,660,506	N37S	probably damaging	Het
9530053A07Rik	G	T	7: 28,157,854	C2209F	probably damaging	Het
Acad10	T	C	5: 121,647,836	K230R	probably damaging	Het
Actl7a	A	G	4: 56,744,252	N260D	probably benign	Het
Adam24	T	C	8: 40,679,603	Y37H	probably benign	Het
Ahcy	G	A	2: 155,064,234	A229V	probably benign	Het
Ap3b2	A	G	7: 81,467,599	V563A	possibly damaging	Het
Bcl9l	T	A	9: 44,509,689	M1427K	probably damaging	Het
Btf3	C	T	13: 98,316,296	M1I	probably null	Het
Btg4	A	T	9: 51,116,610	I27L	probably benign	Het
Ccdc171	A	G	4: 83,620,839	Y366C	probably damaging	Het
Chd3	A	G	11: 69,355,654	Y1085H	probably damaging	Het
Cnot10	T	C	9: 114,597,824	D616G	possibly damaging	Het
Crlf1	C	A	8: 70,500,906	D243E	probably damaging	Het
Cyp2b23	A	G	7: 26,673,077	V371A	possibly damaging	Het
Dennd2a	A	G	6: 39,493,157	S534P	probably damaging	Het
Eln	A	G	5: 134,729,184	V185A	unknown	Het
Epor	C	T	9: 21,959,771	G301D	probably damaging	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fbxl21	A	T	13: 56,537,102	T340S	probably benign	Het
Fez1	T	A	9: 36,843,733	D9E	probably damaging	Het
Fsip2	T	C	2: 82,989,912	F5330L	probably benign	Het
Glis1	G	A	4: 107,568,347	R197Q	probably damaging	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gpr158	A	G	2: 21,827,548	N1153S	probably benign	Het
Gramd4	T	C	15: 86,091,529		probably null	Het
Hhatl	T	A	9: 121,789,059	Y210F	possibly damaging	Het
Hltf	T	C	3: 20,086,188	W422R	probably damaging	Het
Hspa5	T	C	2: 34,772,692	S87P	possibly damaging	Het
Il21	T	C	3: 37,227,662	H111R	probably benign	Het
Ip6k1	G	A	9: 108,040,984	G73S	probably benign	Het
Kdm5b	A	G	1: 134,618,017	D972G	possibly damaging	Het
Kif21b	C	T	1: 136,156,142	A709V	probably damaging	Het
Kmt2d	T	C	15: 98,845,234		probably benign	Het
Lrrc14b	A	G	13: 74,363,586	L125P	probably damaging	Het
Mapk8ip3	A	G	17: 24,899,854	S1169P	probably damaging	Het
Me3	A	T	7: 89,851,833	Y584F	probably damaging	Het
Mxra7	T	G	11: 116,816,244		probably null	Het
Nf1	T	C	11: 79,443,931	S870P	probably benign	Het
Npr2	G	A	4: 43,643,350	G525S	probably damaging	Het
Nyap1	A	T	5: 137,733,125	S726T	probably damaging	Het
Padi4	A	G	4: 140,746,170	V652A	probably damaging	Het
Pclo	A	G	5: 14,676,510		probably benign	Het
Pgm2	G	A	4: 99,964,865		probably null	Het
Piezo2	A	G	18: 63,021,173	S2512P	probably damaging	Het
Ptbp3	A	T	4: 59,482,624	D386E	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptpn3	A	G	4: 57,254,922	V154A	probably damaging	Het
Rassf4	T	C	6: 116,639,489	E287G	probably damaging	Het
Rnh1	C	T	7: 141,164,023	R174H	probably benign	Het
Scn9a	T	A	2: 66,487,594	I1517F	probably damaging	Het
Sftpb	C	A	6: 72,305,813	A90E	probably benign	Het
Slc39a14	T	C	14: 70,318,744	K61R	probably damaging	Het
Tmem132d	A	C	5: 127,784,858	M733R	probably benign	Het
Tmem248	A	G	5: 130,236,823	I156V	probably benign	Het
Traf2	T	C	2: 25,524,483	D339G	probably damaging	Het
Trappc11	A	G	8: 47,529,327		probably null	Het
Txlnb	A	G	10: 17,838,947	T376A	probably damaging	Het
Usp34	A	G	11: 23,364,103	T663A	probably benign	Het
Vmn2r26	T	A	6: 124,061,472	F669I	probably damaging	Het
Wdr95	G	A	5: 149,595,396		probably null	Het
Wfdc8	T	G	2: 164,608,869		probably benign	Het
Zfp64	A	C	2: 168,926,318	V458G	probably benign	Het
Zfp868	C	T	8: 69,611,868	G272D	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
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
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'- TGTCCGTTTGGGCATTAACCACTTC -3'
(R):5'- AGTTGTAAGGCTCCACCACTGCTG -3'

Sequencing Primer
(F):5'- TGGGCTAATACGATTTCTCTGAC -3'
(R):5'- CACTGCTGTGGAGACCTG -3'

Posted On

2014-05-23