Mutagenetix > Incidental Mutation

Incidental Mutation 'R7489:Tuba8'

580408

Institutional Source

Beutler Lab

Gene Symbol

Tuba8

Ensembl Gene

ENSMUSG00000030137

Gene Name

tubulin, alpha 8

Synonyms

MMRRC Submission

045563-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121187655-121203813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121202980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 431 (D431V)

Ref Sequence

ENSEMBL: ENSMUSP00000032233 (fasta)

Gene Model

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

AlphaFold

Q9JJZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032233
AA Change: D431V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032233
Gene: ENSMUSG00000030137
AA Change: D431V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	T	16: 88,424,122 (GRCm39)	V123D	probably damaging	Het
4930503E14Rik	A	T	14: 44,407,756 (GRCm39)	N92K	probably damaging	Het
4930519G04Rik	T	C	5: 115,017,686 (GRCm39)	S166P	unknown	Het
Abtb3	T	A	10: 85,463,079 (GRCm39)	Y615N	probably damaging	Het
Adgrb3	G	A	1: 25,586,586 (GRCm39)	T369I	probably damaging	Het
Agbl4	T	C	4: 111,383,855 (GRCm39)	S237P	probably damaging	Het
Ahi1	T	C	10: 20,839,649 (GRCm39)	C187R	probably benign	Het
Akap9	C	T	5: 4,054,933 (GRCm39)	T1626M	probably damaging	Het
Alas1	A	T	9: 106,118,833 (GRCm39)		probably null	Het
Apbb1	G	T	7: 105,216,687 (GRCm39)	T301N	probably benign	Het
Arhgap42	A	G	9: 9,006,359 (GRCm39)	V679A	probably benign	Het
Atp2a2	T	C	5: 122,605,830 (GRCm39)	D375G	probably benign	Het
Best1	A	G	19: 9,974,410 (GRCm39)	S45P	possibly damaging	Het
Bpifb4	A	C	2: 153,785,924 (GRCm39)	T21P	probably damaging	Het
Cdx2	A	T	5: 147,243,482 (GRCm39)	M104K	probably benign	Het
Ces1d	A	T	8: 93,904,759 (GRCm39)	L327Q	probably damaging	Het
Ces2e	A	G	8: 105,656,412 (GRCm39)	H214R	probably benign	Het
Chd5	G	A	4: 152,457,925 (GRCm39)	G1014D	probably damaging	Het
Cmya5	T	A	13: 93,228,346 (GRCm39)	K2247N	possibly damaging	Het
Dip2c	T	C	13: 9,583,348 (GRCm39)	V110A	probably damaging	Het
Fancd2	T	C	6: 113,541,265 (GRCm39)	S724P	probably benign	Het
Galnt1	T	A	18: 24,415,214 (GRCm39)	V485D	probably damaging	Het
Garin3	G	C	11: 46,298,268 (GRCm39)	G524A		Het
Gli2	A	G	1: 118,765,905 (GRCm39)	S749P	probably benign	Het
H2-M5	A	C	17: 37,300,363 (GRCm39)	L12V	unknown	Het
Iqcf6	C	A	9: 106,504,656 (GRCm39)	Q107K	probably benign	Het
Itfg1	C	T	8: 86,493,630 (GRCm39)	C283Y	probably damaging	Het
Jak3	A	C	8: 72,136,936 (GRCm39)	K704T	probably damaging	Het
Kl	A	T	5: 150,876,461 (GRCm39)	T94S	probably damaging	Het
Krt73	A	C	15: 101,702,294 (GRCm39)	V523G	probably benign	Het
Lap3	T	C	5: 45,657,848 (GRCm39)	F215L	probably damaging	Het
Lce1c	G	A	3: 92,587,954 (GRCm39)	C127Y	unknown	Het
Map6	C	T	7: 98,917,268 (GRCm39)	R14C	probably damaging	Het
Mcm10	T	A	2: 5,006,112 (GRCm39)	K410M	probably damaging	Het
Med23	T	A	10: 24,780,254 (GRCm39)	N967K	probably damaging	Het
Mmp8	A	T	9: 7,561,388 (GRCm39)	T131S	probably benign	Het
Ms4a14	T	C	19: 11,279,395 (GRCm39)	I1054M	probably benign	Het
Mup14	A	G	4: 61,259,887 (GRCm39)	M1T	probably null	Het
Myzap	T	A	9: 71,468,320 (GRCm39)	T110S	probably benign	Het
Nmrk1	A	T	19: 18,619,606 (GRCm39)	K153M	probably damaging	Het
Nmrk1	G	T	19: 18,619,607 (GRCm39)	K153N	possibly damaging	Het
Or4x12-ps1	T	A	2: 89,916,704 (GRCm39)	M34L	probably benign	Het
Or6c70	A	T	10: 129,710,551 (GRCm39)	I25N	probably damaging	Het
Pcdh12	T	C	18: 38,414,842 (GRCm39)	H761R	possibly damaging	Het
Pde4d	C	A	13: 109,253,301 (GRCm39)	L43I	unknown	Het
Prrc2a	A	T	17: 35,381,330 (GRCm39)	S46R	unknown	Het
Rab19	A	G	6: 39,365,039 (GRCm39)	T100A	probably benign	Het
Rad51b	C	T	12: 79,347,359 (GRCm39)	R8*	probably null	Het
Sclt1	A	T	3: 41,584,032 (GRCm39)	L642Q	probably damaging	Het
Scyl3	T	C	1: 163,776,745 (GRCm39)	I392T	possibly damaging	Het
Sipa1l3	A	G	7: 29,066,127 (GRCm39)	W1076R	probably damaging	Het
Slc12a9	C	A	5: 137,321,082 (GRCm39)	A478S	probably damaging	Het
Slc5a9	C	A	4: 111,741,113 (GRCm39)	C511F	probably damaging	Het
Sspo	T	C	6: 48,450,647 (GRCm39)	L2612P	probably damaging	Het
Synrg	C	T	11: 83,881,651 (GRCm39)	T329I	probably benign	Het
Tdrd9	A	G	12: 112,034,071 (GRCm39)	T1338A	probably benign	Het
Tenm4	A	T	7: 96,486,521 (GRCm39)	D996V	possibly damaging	Het
Ticam2	T	A	18: 46,693,584 (GRCm39)	I168L	probably damaging	Het
Tom1l1	T	C	11: 90,547,185 (GRCm39)	I374M	probably benign	Het
Trip10	A	T	17: 57,557,966 (GRCm39)	K51I	probably damaging	Het
Trpc6	T	A	9: 8,656,545 (GRCm39)	D735E	probably benign	Het
Trpm8	T	A	1: 88,307,481 (GRCm39)	N1050K	possibly damaging	Het
Ucn2	C	T	9: 108,815,322 (GRCm39)	T28I	possibly damaging	Het
Vmn1r21	C	T	6: 57,820,877 (GRCm39)	G189D	probably damaging	Het
Vmn2r8	T	C	5: 108,945,522 (GRCm39)	N695S	possibly damaging	Het
Xirp2	A	C	2: 67,355,904 (GRCm39)	N3555T	possibly damaging	Het
Zfp119a	A	T	17: 56,173,158 (GRCm39)	H228Q	probably damaging	Het
Zfr	T	A	15: 12,153,068 (GRCm39)	H566Q	probably benign	Het

Other mutations in Tuba8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02043:Tuba8	APN	6	121,197,470 (GRCm39)	missense	probably benign
IGL02725:Tuba8	APN	6	121,202,916 (GRCm39)	nonsense	probably null
IGL03091:Tuba8	APN	6	121,197,403 (GRCm39)	missense	probably damaging	1.00
IGL03286:Tuba8	APN	6	121,199,913 (GRCm39)	missense	possibly damaging	0.67
R0032:Tuba8	UTSW	6	121,202,863 (GRCm39)	missense	probably benign	0.37
R1424:Tuba8	UTSW	6	121,197,470 (GRCm39)	missense	probably benign
R1624:Tuba8	UTSW	6	121,197,385 (GRCm39)	missense	probably damaging	1.00
R1741:Tuba8	UTSW	6	121,199,727 (GRCm39)	missense	possibly damaging	0.95
R1985:Tuba8	UTSW	6	121,197,479 (GRCm39)	missense	probably benign	0.00
R2513:Tuba8	UTSW	6	121,202,932 (GRCm39)	missense	probably damaging	1.00
R3160:Tuba8	UTSW	6	121,199,697 (GRCm39)	missense	possibly damaging	0.80
R3162:Tuba8	UTSW	6	121,199,697 (GRCm39)	missense	possibly damaging	0.80
R4074:Tuba8	UTSW	6	121,199,756 (GRCm39)	missense	probably damaging	1.00
R4875:Tuba8	UTSW	6	121,203,042 (GRCm39)	utr 3 prime	probably benign
R4968:Tuba8	UTSW	6	121,197,548 (GRCm39)	missense	probably damaging	1.00
R5073:Tuba8	UTSW	6	121,199,862 (GRCm39)	missense	probably damaging	0.99
R5444:Tuba8	UTSW	6	121,203,060 (GRCm39)	utr 3 prime	probably benign
R5546:Tuba8	UTSW	6	121,199,872 (GRCm39)	nonsense	probably null
R5594:Tuba8	UTSW	6	121,202,863 (GRCm39)	missense	possibly damaging	0.82
R5619:Tuba8	UTSW	6	121,202,854 (GRCm39)	missense	probably damaging	0.96
R7366:Tuba8	UTSW	6	121,199,871 (GRCm39)	missense	probably damaging	1.00
R7774:Tuba8	UTSW	6	121,200,348 (GRCm39)	missense	probably damaging	0.99
R8046:Tuba8	UTSW	6	121,199,832 (GRCm39)	missense	probably damaging	1.00
R8134:Tuba8	UTSW	6	121,198,381 (GRCm39)	missense	probably benign	0.00
R8284:Tuba8	UTSW	6	121,199,736 (GRCm39)	missense	probably damaging	1.00
R9337:Tuba8	UTSW	6	121,202,823 (GRCm39)	missense	probably damaging	1.00
R9562:Tuba8	UTSW	6	121,200,063 (GRCm39)	missense	probably benign	0.25
R9565:Tuba8	UTSW	6	121,200,063 (GRCm39)	missense	probably benign	0.25
Z1177:Tuba8	UTSW	6	121,200,298 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGGTGGGCATCAACTACCAG -3'
(R):5'- GAGAGACCATGTGCATCTGC -3'

Sequencing Primer
(F):5'- ACCAGCCACCTACTGTCGTG -3'
(R):5'- ATCTGCAGCTGGGTGTCTGAAC -3'

Posted On

2019-10-07