Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02159:Tuba3b'

282350

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tuba3b

Ensembl Gene

ENSMUSG00000067338

Gene Name

tubulin, alpha 3B

Synonyms

M[a]7, Tuba7

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

IGL02159

Quality Score

Status

Chromosome

Chromosomal Location

145615757-145621479 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 145619666 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 287 (S287A)

Ref Sequence

ENSEMBL: ENSMUSP00000084713 (fasta)

Gene Model

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

AlphaFold

P05214

Predicted Effect

probably benign
Transcript: ENSMUST00000087445
AA Change: S287A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000084713
Gene: ENSMUSG00000067338
AA Change: S287A

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	C	10: 100,610,665	L257S	probably damaging	Het
2210010C04Rik	T	C	6: 41,032,957	T148A	probably benign	Het
Abca13	A	G	11: 9,314,545	S2976G	probably benign	Het
Afmid	T	C	11: 117,836,426	W267R	probably damaging	Het
Ahi1	A	G	10: 21,058,177	K969R	probably benign	Het
Aldh1l1	A	G	6: 90,594,656		probably benign	Het
Ank3	A	G	10: 69,808,892	H62R	probably damaging	Het
Arid2	T	C	15: 96,358,912		probably benign	Het
BC030867	G	A	11: 102,260,165		probably null	Het
Caps2	G	A	10: 112,204,023	V457M	probably benign	Het
Capza1	T	C	3: 104,864,371	D3G	possibly damaging	Het
Cav1	T	A	6: 17,307,972	V41E	possibly damaging	Het
Celf2	G	T	2: 6,604,177	C264*	probably null	Het
Clec4a2	C	T	6: 123,139,326	S150L	probably benign	Het
D7Ertd443e	A	T	7: 134,349,400	D181E	possibly damaging	Het
Epyc	A	G	10: 97,670,631	E100G	probably benign	Het
Hdac11	A	G	6: 91,173,102	I294M	probably damaging	Het
Hsdl1	A	G	8: 119,566,414	V73A	probably benign	Het
Kmt2c	A	T	5: 25,311,343	S2501T	probably benign	Het
Lrrc41	T	A	4: 116,088,486	F133I	probably benign	Het
Map3k19	C	A	1: 127,823,170	G815C	probably benign	Het
Muc13	C	A	16: 33,799,479	T199K	unknown	Het
Nif3l1	G	T	1: 58,447,946		probably null	Het
Nlrp12	A	T	7: 3,249,545		probably benign	Het
Nup205	T	C	6: 35,189,178	S244P	probably damaging	Het
Olfr1353	A	T	10: 78,969,901	N84I	probably damaging	Het
Parl	G	A	16: 20,280,088		probably benign	Het
Pax8	A	G	2: 24,440,788	I211T	possibly damaging	Het
Pglyrp4	A	G	3: 90,730,853	E158G	possibly damaging	Het
Plekhm1	A	G	11: 103,380,231	L478P	probably benign	Het
Serpina1a	C	T	12: 103,854,706	G338R	probably damaging	Het
Serpina5	T	C	12: 104,105,298	L388P	possibly damaging	Het
Sorbs1	A	G	19: 40,327,596	V367A	probably damaging	Het
Srgap2	A	G	1: 131,319,666		probably benign	Het
Surf1	A	G	2: 26,915,651	L26P	probably damaging	Het
Taf4	A	G	2: 179,938,470	S486P	probably benign	Het
Tdrd6	A	T	17: 43,628,390	V589E	probably damaging	Het
Txnrd3	G	A	6: 89,669,324	R295H	probably damaging	Het
Ubr5	G	T	15: 37,991,379		probably benign	Het
Unc45b	C	T	11: 82,940,181		probably benign	Het
Usp32	A	G	11: 85,005,802		probably null	Het
Utp23	G	A	15: 51,882,365	R87K	probably benign	Het
Vps8	T	C	16: 21,466,484	I405T	possibly damaging	Het

Other mutations in Tuba3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03027:Tuba3b	APN	6	145619391	missense	probably damaging	1.00
IGL03336:Tuba3b	APN	6	145619724	missense	possibly damaging	0.90
R0086:Tuba3b	UTSW	6	145621160	missense	probably damaging	1.00
R0454:Tuba3b	UTSW	6	145618269	missense	probably benign	0.13
R0631:Tuba3b	UTSW	6	145619576	missense	probably damaging	0.99
R1376:Tuba3b	UTSW	6	145618774	missense	possibly damaging	0.86
R1376:Tuba3b	UTSW	6	145618774	missense	possibly damaging	0.86
R1476:Tuba3b	UTSW	6	145618453	missense	possibly damaging	0.61
R2137:Tuba3b	UTSW	6	145618833	missense	probably benign
R4993:Tuba3b	UTSW	6	145621273	missense	possibly damaging	0.79
R5796:Tuba3b	UTSW	6	145619682	missense	probably damaging	1.00
R5945:Tuba3b	UTSW	6	145619745	missense	probably damaging	0.99
R6045:Tuba3b	UTSW	6	145621174	missense	probably damaging	1.00
R6768:Tuba3b	UTSW	6	145618729	splice site	probably null
R7055:Tuba3b	UTSW	6	145621209	missense	possibly damaging	0.54
R7815:Tuba3b	UTSW	6	145621121	missense	possibly damaging	0.91
R8997:Tuba3b	UTSW	6	145621228	missense	possibly damaging	0.92
R9006:Tuba3b	UTSW	6	145619838	missense	possibly damaging	0.55
R9026:Tuba3b	UTSW	6	145618270	missense	possibly damaging	0.80
R9786:Tuba3b	UTSW	6	145618756	missense	probably benign	0.19
X0023:Tuba3b	UTSW	6	145621174	missense	probably damaging	1.00
Z1177:Tuba3b	UTSW	6	145621292	missense	probably damaging	1.00

Posted On

2015-04-16