Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01065:Tuba3a'

51241

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tuba3a

Ensembl Gene

ENSMUSG00000067702

Gene Name

tubulin, alpha 3A

Synonyms

Tuba3, M[a]3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01065

Quality Score

Status

Chromosome

Chromosomal Location

125255237-125263005 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125259920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 9 (V9M)

Ref Sequence

ENSEMBL: ENSMUSP00000085580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088246]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088246
AA Change: V9M

PolyPhen 2 Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000085580
Gene: ENSMUSG00000067702
AA Change: V9M

Domain	Start	End	E-Value	Type
Tubulin	49	246	4.47e-81	SMART
Tubulin_C	248	393	8.44e-59	SMART
low complexity region	433	449	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204911

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Apob	A	G	12: 8,053,299 (GRCm39)	Y1247C	probably damaging	Het
Atg16l1	A	T	1: 87,713,653 (GRCm39)	N401I	probably damaging	Het
Bcam	T	C	7: 19,490,724 (GRCm39)	H591R	probably benign	Het
Bcat1	T	C	6: 144,946,015 (GRCm39)	S446G	possibly damaging	Het
C2cd5	A	G	6: 143,024,005 (GRCm39)	S262P	probably damaging	Het
Clrn1	T	C	3: 58,792,446 (GRCm39)	K6E	probably damaging	Het
D17H6S53E	A	T	17: 35,346,259 (GRCm39)	K57*	probably null	Het
Dennd1a	T	A	2: 37,734,917 (GRCm39)	I17F	probably benign	Het
Depdc7	A	C	2: 104,552,426 (GRCm39)	Y460*	probably null	Het
Disp3	T	C	4: 148,345,640 (GRCm39)	Y400C	probably damaging	Het
Edem3	T	C	1: 151,653,302 (GRCm39)	Y203H	probably damaging	Het
Fbxl5	A	G	5: 43,902,676 (GRCm39)	C679R	probably damaging	Het
Fhad1	T	C	4: 141,632,923 (GRCm39)	T1194A	probably benign	Het
Garin4	T	C	1: 190,895,224 (GRCm39)	D473G	probably benign	Het
Gipc2	A	G	3: 151,808,294 (GRCm39)	L253P	possibly damaging	Het
Gpr26	T	C	7: 131,569,230 (GRCm39)	Y192H	probably damaging	Het
Hoxb6	A	G	11: 96,191,635 (GRCm39)	T186A	probably damaging	Het
Kif24	A	G	4: 41,423,639 (GRCm39)		probably benign	Het
Lonp1	T	C	17: 56,922,500 (GRCm39)		probably benign	Het
Lrp1	A	G	10: 127,410,907 (GRCm39)	I1427T	probably benign	Het
Lrp2	C	T	2: 69,299,780 (GRCm39)	E3091K	possibly damaging	Het
Lzts1	T	C	8: 69,588,744 (GRCm39)	N404S	probably benign	Het
Map3k4	A	T	17: 12,451,877 (GRCm39)	D1470E	probably damaging	Het
Med30	A	T	15: 52,584,456 (GRCm39)	N125Y	probably benign	Het
Mgam	G	A	6: 40,639,644 (GRCm39)		probably null	Het
Mrps33	G	A	6: 39,779,447 (GRCm39)	R83*	probably null	Het
Notch3	A	T	17: 32,365,390 (GRCm39)	Y1107*	probably null	Het
Rc3h2	T	A	2: 37,267,856 (GRCm39)		probably benign	Het
Rev1	T	C	1: 38,138,090 (GRCm39)	E65G	possibly damaging	Het
Rgl1	T	C	1: 152,394,893 (GRCm39)	N760S	probably damaging	Het
Slc16a4	T	C	3: 107,210,416 (GRCm39)	I362T	possibly damaging	Het
Slc25a24	G	A	3: 109,065,967 (GRCm39)		probably benign	Het
Slc2a4	G	T	11: 69,836,782 (GRCm39)		probably benign	Het
Slc39a13	T	A	2: 90,894,051 (GRCm39)	I256F	probably damaging	Het
Spdya	A	T	17: 71,863,320 (GRCm39)	N23I	possibly damaging	Het
Srpra	T	A	9: 35,124,734 (GRCm39)	W112R	probably damaging	Het
Tbc1d4	A	C	14: 101,686,629 (GRCm39)		probably benign	Het
Ttc39d	G	A	17: 80,523,703 (GRCm39)	G121R	probably damaging	Het
Upf2	A	G	2: 5,966,111 (GRCm39)	K244E	unknown	Het
Usp39	T	C	6: 72,316,958 (GRCm39)	Y141C	probably damaging	Het

Other mutations in Tuba3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01020:Tuba3a	APN	6	125,258,303 (GRCm39)	missense	probably damaging	1.00
IGL01610:Tuba3a	APN	6	125,255,529 (GRCm39)	missense	possibly damaging	0.91
IGL01731:Tuba3a	APN	6	125,259,721 (GRCm39)	missense	possibly damaging	0.61
IGL03152:Tuba3a	APN	6	125,258,300 (GRCm39)	missense	probably damaging	0.97
R1989:Tuba3a	UTSW	6	125,258,216 (GRCm39)	missense	probably damaging	1.00
R4434:Tuba3a	UTSW	6	125,258,506 (GRCm39)	nonsense	probably null
R4655:Tuba3a	UTSW	6	125,258,130 (GRCm39)	missense	possibly damaging	0.87
R5104:Tuba3a	UTSW	6	125,259,347 (GRCm39)	missense	probably benign	0.27
R5297:Tuba3a	UTSW	6	125,258,303 (GRCm39)	missense	probably damaging	1.00
R5307:Tuba3a	UTSW	6	125,258,273 (GRCm39)	missense	probably damaging	1.00
R5404:Tuba3a	UTSW	6	125,258,555 (GRCm39)	missense	possibly damaging	0.68
R6732:Tuba3a	UTSW	6	125,258,608 (GRCm39)	missense	probably benign
R8070:Tuba3a	UTSW	6	125,255,433 (GRCm39)	missense	probably damaging	1.00
R8747:Tuba3a	UTSW	6	125,258,018 (GRCm39)	missense	probably damaging	1.00
Z1176:Tuba3a	UTSW	6	125,255,356 (GRCm39)	missense	unknown
Z1177:Tuba3a	UTSW	6	125,259,941 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21