Mutagenetix > Incidental Mutation

Incidental Mutation 'R1424:Tuba8'

161221

Institutional Source

Beutler Lab

Gene Symbol

Tuba8

Ensembl Gene

ENSMUSG00000030137

Gene Name

tubulin, alpha 8

Synonyms

MMRRC Submission

039480-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1424 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

121187655-121203813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121197470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 44 (N44S)

Ref Sequence

ENSEMBL: ENSMUSP00000032233 (fasta)

Gene Model

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

AlphaFold

Q9JJZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000032233
AA Change: N44S

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

SMART Domains

Protein: ENSMUSP00000032233
Gene: ENSMUSG00000030137
AA Change: N44S

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

0.0619

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.6%

Validation Efficiency

97% (57/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	C	A	12: 72,939,669 (GRCm39)	E415*	probably null	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acad12	C	T	5: 121,742,385 (GRCm39)	A408T	probably benign	Het
Acox2	T	A	14: 8,230,247 (GRCm38)	H632L	probably benign	Het
Anxa5	A	T	3: 36,506,441 (GRCm39)		probably null	Het
Ap1m2	A	T	9: 21,209,500 (GRCm39)	I392N	possibly damaging	Het
Casp2	T	C	6: 42,253,725 (GRCm39)		probably benign	Het
Cel	C	T	2: 28,449,636 (GRCm39)	A243T	probably damaging	Het
Depp1	A	G	6: 116,628,966 (GRCm39)	N103S	possibly damaging	Het
Dgka	A	T	10: 128,569,202 (GRCm39)	S177T	possibly damaging	Het
Dnajc6	A	G	4: 101,496,544 (GRCm39)	T836A	possibly damaging	Het
Dock3	T	C	9: 106,790,392 (GRCm39)	S1444G	probably damaging	Het
Dtl	T	C	1: 191,293,649 (GRCm39)	D176G	probably benign	Het
Eif4g1	T	C	16: 20,497,692 (GRCm39)	I230T	probably benign	Het
Fam227a	T	A	15: 79,518,309 (GRCm39)	I328F	probably benign	Het
Fam98a	A	G	17: 75,847,173 (GRCm39)	L179S	probably damaging	Het
Fgb	A	T	3: 82,954,070 (GRCm39)	I56N	probably damaging	Het
Fmo1	C	T	1: 162,657,635 (GRCm39)	R502Q	probably damaging	Het
Fndc3a	C	T	14: 72,811,811 (GRCm39)	A340T	probably damaging	Het
Gli3	C	A	13: 15,900,899 (GRCm39)	Q1429K	probably benign	Het
Gm3443	A	T	19: 21,534,959 (GRCm39)	I75F	possibly damaging	Het
Gtpbp6	C	T	5: 110,252,155 (GRCm39)		probably null	Het
Gtsf1	A	T	15: 103,318,070 (GRCm39)	Y156*	probably null	Het
Hmcn1	T	C	1: 150,522,545 (GRCm39)	T3452A	probably benign	Het
Kcnj10	T	A	1: 172,196,822 (GRCm39)	V112E	probably damaging	Het
Lama3	C	A	18: 12,653,048 (GRCm39)	T256K	probably benign	Het
Lrrc8d	G	A	5: 105,974,782 (GRCm39)	V63M	unknown	Het
Matn3	G	T	12: 9,011,132 (GRCm39)	A348S	possibly damaging	Het
Mmp16	A	G	4: 18,112,121 (GRCm39)		probably null	Het
Nsd3	A	G	8: 26,190,594 (GRCm39)	N175S	probably damaging	Het
Or11h4	A	T	14: 50,974,521 (GRCm39)	F33I	probably benign	Het
Or1d2	C	A	11: 74,255,780 (GRCm39)	P95Q	probably benign	Het
Or4c35	C	T	2: 89,808,415 (GRCm39)	Q98*	probably null	Het
Or4k5	C	A	14: 50,385,922 (GRCm39)	M136I	possibly damaging	Het
Pcdhb12	T	A	18: 37,571,132 (GRCm39)	N759K	probably benign	Het
Pcsk2	T	C	2: 143,415,348 (GRCm39)		probably benign	Het
Polq	G	A	16: 36,906,890 (GRCm39)	D2284N	probably damaging	Het
Prdm12	C	T	2: 31,533,823 (GRCm39)	R147C	probably damaging	Het
Ptprz1	A	G	6: 23,000,382 (GRCm39)	D824G	probably benign	Het
Rere	C	T	4: 150,701,495 (GRCm39)	R1292C	probably damaging	Het
Rptor	T	A	11: 119,671,419 (GRCm39)	L294*	probably null	Het
Sbf2	A	T	7: 109,914,233 (GRCm39)	C1650S	probably damaging	Het
Sdk1	C	T	5: 142,147,621 (GRCm39)	T1751I	probably damaging	Het
Sh3bp1	T	C	15: 78,787,899 (GRCm39)		probably null	Het
Shank2	T	A	7: 143,606,109 (GRCm39)	D97E	probably damaging	Het
Tab2	A	C	10: 7,795,812 (GRCm39)	S149R	possibly damaging	Het
Taok1	G	T	11: 77,440,190 (GRCm39)	R606S	probably benign	Het
Tas2r121	A	G	6: 132,677,645 (GRCm39)	L109P	probably damaging	Het
Tmem117	A	G	15: 94,829,689 (GRCm39)	M175V	probably benign	Het
Tmprss11b	T	C	5: 86,812,832 (GRCm39)	K155E	probably benign	Het
Tmtc2	G	T	10: 105,249,229 (GRCm39)	T168N	probably benign	Het
Top2b	G	A	14: 16,383,177 (GRCm38)	R55H	probably damaging	Het
Tsga10ip	C	T	19: 5,440,942 (GRCm39)		probably null	Het
Ube2o	A	G	11: 116,434,558 (GRCm39)	V590A	probably benign	Het
Ush2a	T	G	1: 188,275,075 (GRCm39)		probably null	Het
Vmn2r23	T	A	6: 123,690,229 (GRCm39)	Y368*	probably null	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
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
R7489:Tuba8	UTSW	6	121,202,980 (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'- AGCACCCTGTGCATTGGATGTGAG -3'
(R):5'- AGCAGAGACCCTTTTGACCCCTAAC -3'

Sequencing Primer
(F):5'- GCCTGAGTCTGTAGCCAG -3'
(R):5'- GCTCCCCAAGGAGCTAAGAG -3'

Posted On

2014-03-14