Mutagenetix > Incidental Mutation

Incidental Mutation 'R5594:Tuba8'

437693

Institutional Source

Beutler Lab

Gene Symbol

Tuba8

Ensembl Gene

ENSMUSG00000030137

Gene Name

tubulin, alpha 8

Synonyms

MMRRC Submission

043146-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121187655-121203813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121202863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 392 (D392G)

Ref Sequence

ENSEMBL: ENSMUSP00000032233 (fasta)

Gene Model

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

AlphaFold

Q9JJZ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032233
AA Change: D392G

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032233
Gene: ENSMUSG00000030137
AA Change: D392G

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

0.5542

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.4%

Validation Efficiency

100% (80/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,888,027 (GRCm39)	V120I	unknown	Het
4931414P19Rik	A	G	14: 54,822,441 (GRCm39)	Y399H	probably damaging	Het
Abca9	G	T	11: 110,035,688 (GRCm39)	P644Q	probably damaging	Het
Acly	T	C	11: 100,412,946 (GRCm39)		probably null	Het
Adamts14	A	T	10: 61,062,880 (GRCm39)		probably null	Het
Ankdd1a	T	C	9: 65,409,523 (GRCm39)	N471S	probably damaging	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Arhgef28	T	C	13: 98,076,000 (GRCm39)	T1345A	probably benign	Het
Arhgef40	T	A	14: 52,233,614 (GRCm39)	L820H	probably damaging	Het
Atp2b4	A	G	1: 133,658,248 (GRCm39)	V554A	probably damaging	Het
Birc7	G	A	2: 180,575,129 (GRCm39)		probably null	Het
Ccdc80	C	T	16: 44,936,626 (GRCm39)	R684C	probably benign	Het
Cdc25b	C	A	2: 131,033,538 (GRCm39)	P159Q	probably damaging	Het
Cdcp3	T	A	7: 130,841,252 (GRCm39)	D647E	probably benign	Het
Chek2	G	T	5: 111,003,700 (GRCm39)		probably null	Het
Chil6	C	T	3: 106,301,745 (GRCm39)		probably null	Het
Cr2	A	G	1: 194,839,498 (GRCm39)	I643T	probably damaging	Het
Cwf19l2	C	A	9: 3,418,773 (GRCm39)	Q187K	probably benign	Het
Cyth4	A	G	15: 78,491,275 (GRCm39)		probably null	Het
Depdc5	A	G	5: 33,058,834 (GRCm39)	T268A	possibly damaging	Het
Dnah17	G	T	11: 117,934,055 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,570,844 (GRCm39)	Y2210C	possibly damaging	Het
Elmod3	G	A	6: 72,571,799 (GRCm39)		probably benign	Het
Eogt	T	A	6: 97,092,996 (GRCm39)	T394S	probably benign	Het
Evi5	A	G	5: 107,968,317 (GRCm39)	V182A	possibly damaging	Het
Fbxo30	T	C	10: 11,166,223 (GRCm39)	I315T	probably benign	Het
Fibcd1	T	C	2: 31,728,629 (GRCm39)	N76S	probably damaging	Het
Gcc2	G	T	10: 58,123,064 (GRCm39)	R1190M	probably damaging	Het
Gfm2	T	C	13: 97,301,546 (GRCm39)	S450P	probably damaging	Het
Glg1	G	A	8: 111,914,513 (GRCm39)	R424C	probably damaging	Het
Gm11543	T	A	11: 94,719,380 (GRCm39)		noncoding transcript	Het
Hhip	G	T	8: 80,723,492 (GRCm39)	D387E	probably damaging	Het
Hif1a	T	A	12: 73,984,566 (GRCm39)	Y46*	probably null	Het
Hivep3	G	T	4: 119,980,245 (GRCm39)		probably null	Het
Kif13a	T	A	13: 46,906,338 (GRCm39)	E535V	probably damaging	Het
Lrch3	T	C	16: 32,734,554 (GRCm39)	Y15H	probably damaging	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Lyst	T	A	13: 13,933,982 (GRCm39)	V3560E	probably benign	Het
Megf11	T	C	9: 64,593,755 (GRCm39)	F613L	probably damaging	Het
Misp	G	A	10: 79,662,977 (GRCm39)	V465M	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ms4a6c	T	A	19: 11,455,537 (GRCm39)	D115E	probably benign	Het
Msh6	A	G	17: 88,293,497 (GRCm39)	T751A	probably benign	Het
Ntrk3	T	A	7: 78,101,647 (GRCm39)	T429S	probably benign	Het
Oplah	A	C	15: 76,180,837 (GRCm39)	*1289G	probably null	Het
Or14j7	T	A	17: 38,234,502 (GRCm39)	M15K	probably benign	Het
Or7e166	T	C	9: 19,624,302 (GRCm39)	Y60H	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhga6	A	T	18: 37,841,581 (GRCm39)	T434S	probably benign	Het
Pign	A	G	1: 105,574,594 (GRCm39)		probably benign	Het
Poteg	A	T	8: 27,937,996 (GRCm39)	I51F	probably benign	Het
Prrc2c	C	A	1: 162,526,600 (GRCm39)	V204F	unknown	Het
Rhbdd3	T	C	11: 5,055,710 (GRCm39)	S325P	probably damaging	Het
Rit1	T	A	3: 88,636,444 (GRCm39)	L116Q	probably damaging	Het
Rpl22	T	A	4: 152,410,259 (GRCm39)		probably benign	Het
Rttn	A	G	18: 89,108,560 (GRCm39)	E1588G	possibly damaging	Het
Sardh	A	G	2: 27,110,735 (GRCm39)	F577S	probably damaging	Het
Slc12a7	T	A	13: 73,933,258 (GRCm39)	D105E	probably benign	Het
Slc22a23	T	A	13: 34,489,240 (GRCm39)	D215V	probably damaging	Het
Slc4a8	C	A	15: 100,693,768 (GRCm39)	P438T	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Stk19	C	T	17: 35,039,538 (GRCm39)		probably benign	Het
Stx5a	T	C	19: 8,725,829 (GRCm39)	I143T	probably damaging	Het
Tep1	T	C	14: 51,067,339 (GRCm39)	H2232R	possibly damaging	Het
Trmt9b	A	G	8: 36,979,452 (GRCm39)	T352A	probably benign	Het
Ttc21b	A	G	2: 66,066,579 (GRCm39)	I358T	probably benign	Het
Vmn1r1	G	A	1: 181,984,972 (GRCm39)	P231L	probably damaging	Het
Zfp330	A	G	8: 83,493,941 (GRCm39)	W107R	probably damaging	Het
Zfp715	T	A	7: 42,949,116 (GRCm39)	Q281H	possibly damaging	Het
Zfp9	T	C	6: 118,442,000 (GRCm39)	T221A	probably damaging	Het
Zgpat	T	C	2: 181,007,420 (GRCm39)		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
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'- ACGTTGTCTTTGGCGGACTC -3'
(R):5'- AGCATGCTGTGAGTGGAAC -3'

Sequencing Primer
(F):5'- CGGACTCGTGTGTCATCCTG -3'
(R):5'- CATGCTGTGAGTGGAACCAACAC -3'

Posted On

2016-10-26