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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1741 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121187655-121203813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121199727 bp (GRCm39)

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: 52,793,578 (GRCm39)	N37S	probably damaging	Het
Acad10	T	C	5: 121,785,899 (GRCm39)	K230R	probably damaging	Het
Actl7a	A	G	4: 56,744,252 (GRCm39)	N260D	probably benign	Het
Adam24	T	C	8: 41,132,642 (GRCm39)	Y37H	probably benign	Het
Ahcy	G	A	2: 154,906,154 (GRCm39)	A229V	probably benign	Het
Ap3b2	A	G	7: 81,117,347 (GRCm39)	V563A	possibly damaging	Het
Bcl9l	T	A	9: 44,420,986 (GRCm39)	M1427K	probably damaging	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Btg4	A	T	9: 51,027,910 (GRCm39)	I27L	probably benign	Het
Ccdc171	A	G	4: 83,539,076 (GRCm39)	Y366C	probably damaging	Het
Chd3	A	G	11: 69,246,480 (GRCm39)	Y1085H	probably damaging	Het
Cnot10	T	C	9: 114,426,892 (GRCm39)	D616G	possibly damaging	Het
Crlf1	C	A	8: 70,953,556 (GRCm39)	D243E	probably damaging	Het
Cyp2b23	A	G	7: 26,372,502 (GRCm39)	V371A	possibly damaging	Het
Dennd2a	A	G	6: 39,470,091 (GRCm39)	S534P	probably damaging	Het
Eln	A	G	5: 134,758,038 (GRCm39)	V185A	unknown	Het
Epor	C	T	9: 21,871,067 (GRCm39)	G301D	probably damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fbxl21	A	T	13: 56,684,915 (GRCm39)	T340S	probably benign	Het
Fcgbpl1	G	T	7: 27,857,279 (GRCm39)	C2209F	probably damaging	Het
Fez1	T	A	9: 36,755,029 (GRCm39)	D9E	probably damaging	Het
Fsip2	T	C	2: 82,820,256 (GRCm39)	F5330L	probably benign	Het
Glis1	G	A	4: 107,425,544 (GRCm39)	R197Q	probably damaging	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Gpr158	A	G	2: 21,832,359 (GRCm39)	N1153S	probably benign	Het
Gramd4	T	C	15: 85,975,730 (GRCm39)		probably null	Het
Hhatl	T	A	9: 121,618,125 (GRCm39)	Y210F	possibly damaging	Het
Hltf	T	C	3: 20,140,352 (GRCm39)	W422R	probably damaging	Het
Hspa5	T	C	2: 34,662,704 (GRCm39)	S87P	possibly damaging	Het
Il21	T	C	3: 37,281,811 (GRCm39)	H111R	probably benign	Het
Ip6k1	G	A	9: 107,918,183 (GRCm39)	G73S	probably benign	Het
Kdm5b	A	G	1: 134,545,755 (GRCm39)	D972G	possibly damaging	Het
Kif21b	C	T	1: 136,083,880 (GRCm39)	A709V	probably damaging	Het
Kmt2d	T	C	15: 98,743,115 (GRCm39)		probably benign	Het
Lrrc14b	A	G	13: 74,511,705 (GRCm39)	L125P	probably damaging	Het
Mapk8ip3	A	G	17: 25,118,828 (GRCm39)	S1169P	probably damaging	Het
Me3	A	T	7: 89,501,041 (GRCm39)	Y584F	probably damaging	Het
Mxra7	T	G	11: 116,707,070 (GRCm39)		probably null	Het
Nf1	T	C	11: 79,334,757 (GRCm39)	S870P	probably benign	Het
Npr2	G	A	4: 43,643,350 (GRCm39)	G525S	probably damaging	Het
Nyap1	A	T	5: 137,731,387 (GRCm39)	S726T	probably damaging	Het
Padi4	A	G	4: 140,473,481 (GRCm39)	V652A	probably damaging	Het
Pclo	A	G	5: 14,726,524 (GRCm39)		probably benign	Het
Pgm1	G	A	4: 99,822,062 (GRCm39)		probably null	Het
Piezo2	A	G	18: 63,154,244 (GRCm39)	S2512P	probably damaging	Het
Ptbp3	A	T	4: 59,482,624 (GRCm39)	D386E	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptpn3	A	G	4: 57,254,922 (GRCm39)	V154A	probably damaging	Het
Rassf4	T	C	6: 116,616,450 (GRCm39)	E287G	probably damaging	Het
Rnh1	C	T	7: 140,743,936 (GRCm39)	R174H	probably benign	Het
Scn9a	T	A	2: 66,317,938 (GRCm39)	I1517F	probably damaging	Het
Sftpb	C	A	6: 72,282,797 (GRCm39)	A90E	probably benign	Het
Slc39a14	T	C	14: 70,556,193 (GRCm39)	K61R	probably damaging	Het
Tmem132d	A	C	5: 127,861,922 (GRCm39)	M733R	probably benign	Het
Tmem248	A	G	5: 130,265,664 (GRCm39)	I156V	probably benign	Het
Traf2	T	C	2: 25,414,495 (GRCm39)	D339G	probably damaging	Het
Trappc11	A	G	8: 47,982,362 (GRCm39)		probably null	Het
Txlnb	A	G	10: 17,714,695 (GRCm39)	T376A	probably damaging	Het
Usp34	A	G	11: 23,314,103 (GRCm39)	T663A	probably benign	Het
Vmn2r26	T	A	6: 124,038,431 (GRCm39)	F669I	probably damaging	Het
Wdr95	G	A	5: 149,518,861 (GRCm39)		probably null	Het
Wfdc8	T	G	2: 164,450,789 (GRCm39)		probably benign	Het
Zfp64	A	C	2: 168,768,238 (GRCm39)	V458G	probably benign	Het
Zfp868	C	T	8: 70,064,519 (GRCm39)	G272D	probably damaging	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
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'- TGTCCGTTTGGGCATTAACCACTTC -3'
(R):5'- AGTTGTAAGGCTCCACCACTGCTG -3'

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

Posted On

2014-05-23