Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03336:Tuba3b'

417030

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tuba3b

Ensembl Gene

ENSMUSG00000067338

Gene Name

tubulin, alpha 3B

Synonyms

Tuba7, M[a]7

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

IGL03336

Quality Score

Status

Chromosome

Chromosomal Location

145561689-145567203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145565450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 306 (D306G)

Ref Sequence

ENSEMBL: ENSMUSP00000084713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087445]

AlphaFold

P05214

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087445
AA Change: D306G

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084713
Gene: ENSMUSG00000067338
AA Change: D306G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	G	15: 59,888,251 (GRCm39)	V63A	probably benign	Het
Ankrd11	A	G	8: 123,618,582 (GRCm39)	S1757P	probably benign	Het
Atp8a1	G	T	5: 67,887,150 (GRCm39)	Y629*	probably null	Het
Cenpf	T	C	1: 189,384,844 (GRCm39)	K2479E	probably damaging	Het
Clip1	G	T	5: 123,791,633 (GRCm39)	S179*	probably null	Het
Cmya5	A	G	13: 93,230,013 (GRCm39)	S1692P	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,474 (GRCm39)	S119G	probably benign	Het
Fndc5	T	C	4: 129,033,711 (GRCm39)	F160L	probably benign	Het
Muc5b	T	C	7: 141,418,100 (GRCm39)	V3682A	probably damaging	Het
Myh8	G	T	11: 67,175,528 (GRCm39)	D328Y	probably damaging	Het
Or10a5	T	A	7: 106,635,542 (GRCm39)	M60K	probably damaging	Het
Or4c121	T	C	2: 89,024,241 (GRCm39)	T46A	probably benign	Het
Or51f1	C	T	7: 102,505,823 (GRCm39)	C222Y	probably benign	Het
Or51k2	T	C	7: 103,596,616 (GRCm39)	L281P	probably damaging	Het
Or6c203	T	C	10: 129,010,098 (GRCm39)	E264G	probably benign	Het
Paxbp1	T	C	16: 90,831,060 (GRCm39)	I439V	probably benign	Het
Pcdhb3	T	C	18: 37,436,014 (GRCm39)	V660A	possibly damaging	Het
Pcyt2	T	C	11: 120,506,758 (GRCm39)	D32G	probably damaging	Het
Pdzph1	A	T	17: 59,281,229 (GRCm39)	V351D	probably benign	Het
Ribc2	C	T	15: 85,017,114 (GRCm39)	Q51*	probably null	Het
Scn2a	A	G	2: 65,519,088 (GRCm39)	E438G	probably damaging	Het
Slc18a3	T	C	14: 32,184,785 (GRCm39)		probably benign	Het
Slc5a1	G	A	5: 33,304,287 (GRCm39)	V296I	probably benign	Het
Slit3	A	T	11: 35,560,928 (GRCm39)	T958S	probably damaging	Het
Spag8	C	T	4: 43,652,114 (GRCm39)		probably benign	Het
Susd3	A	C	13: 49,392,258 (GRCm39)	S144R	probably benign	Het
Synpo2	T	C	3: 122,907,828 (GRCm39)	E496G	possibly damaging	Het
Tbcel	T	C	9: 42,350,427 (GRCm39)	T269A	probably benign	Het
Tmem156	A	G	5: 65,233,107 (GRCm39)	Y152H	probably benign	Het
Tmem247	A	G	17: 87,225,857 (GRCm39)	E99G	probably damaging	Het
Vps13c	T	A	9: 67,858,924 (GRCm39)	D2791E	possibly damaging	Het
Ypel4	A	G	2: 84,567,871 (GRCm39)	Y98C	probably damaging	Het

Other mutations in Tuba3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02159:Tuba3b	APN	6	145,565,392 (GRCm39)	missense	probably benign	0.01
IGL03027:Tuba3b	APN	6	145,565,117 (GRCm39)	missense	probably damaging	1.00
R0086:Tuba3b	UTSW	6	145,566,886 (GRCm39)	missense	probably damaging	1.00
R0454:Tuba3b	UTSW	6	145,563,995 (GRCm39)	missense	probably benign	0.13
R0631:Tuba3b	UTSW	6	145,565,302 (GRCm39)	missense	probably damaging	0.99
R1376:Tuba3b	UTSW	6	145,564,500 (GRCm39)	missense	possibly damaging	0.86
R1376:Tuba3b	UTSW	6	145,564,500 (GRCm39)	missense	possibly damaging	0.86
R1476:Tuba3b	UTSW	6	145,564,179 (GRCm39)	missense	possibly damaging	0.61
R2137:Tuba3b	UTSW	6	145,564,559 (GRCm39)	missense	probably benign
R4993:Tuba3b	UTSW	6	145,566,999 (GRCm39)	missense	possibly damaging	0.79
R5796:Tuba3b	UTSW	6	145,565,408 (GRCm39)	missense	probably damaging	1.00
R5945:Tuba3b	UTSW	6	145,565,471 (GRCm39)	missense	probably damaging	0.99
R6045:Tuba3b	UTSW	6	145,566,900 (GRCm39)	missense	probably damaging	1.00
R6768:Tuba3b	UTSW	6	145,564,455 (GRCm39)	splice site	probably null
R7055:Tuba3b	UTSW	6	145,566,935 (GRCm39)	missense	possibly damaging	0.54
R7815:Tuba3b	UTSW	6	145,566,847 (GRCm39)	missense	possibly damaging	0.91
R8997:Tuba3b	UTSW	6	145,566,954 (GRCm39)	missense	possibly damaging	0.92
R9006:Tuba3b	UTSW	6	145,565,564 (GRCm39)	missense	possibly damaging	0.55
R9026:Tuba3b	UTSW	6	145,563,996 (GRCm39)	missense	possibly damaging	0.80
R9786:Tuba3b	UTSW	6	145,564,482 (GRCm39)	missense	probably benign	0.19
X0023:Tuba3b	UTSW	6	145,566,900 (GRCm39)	missense	probably damaging	1.00
Z1177:Tuba3b	UTSW	6	145,567,018 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02