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

Tuba7, M[a]7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.233) question?

Stock #

IGL02159

Quality Score

Status

Chromosome

Chromosomal Location

145561689-145567203 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 145565392 bp (GRCm39)

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: 100,446,527 (GRCm39)	L257S	probably damaging	Het
Abca13	A	G	11: 9,264,545 (GRCm39)	S2976G	probably benign	Het
Afmid	T	C	11: 117,727,252 (GRCm39)	W267R	probably damaging	Het
Ahi1	A	G	10: 20,934,076 (GRCm39)	K969R	probably benign	Het
Aldh1l1	A	G	6: 90,571,638 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,644,722 (GRCm39)	H62R	probably damaging	Het
Arid2	T	C	15: 96,256,793 (GRCm39)		probably benign	Het
Caps2	G	A	10: 112,039,928 (GRCm39)	V457M	probably benign	Het
Capza1	T	C	3: 104,771,687 (GRCm39)	D3G	possibly damaging	Het
Cav1	T	A	6: 17,307,971 (GRCm39)	V41E	possibly damaging	Het
Celf2	G	T	2: 6,608,988 (GRCm39)	C264*	probably null	Het
Clec4a2	C	T	6: 123,116,285 (GRCm39)	S150L	probably benign	Het
D7Ertd443e	A	T	7: 133,951,129 (GRCm39)	D181E	possibly damaging	Het
Epyc	A	G	10: 97,506,493 (GRCm39)	E100G	probably benign	Het
Hdac11	A	G	6: 91,150,084 (GRCm39)	I294M	probably damaging	Het
Hrob	G	A	11: 102,150,991 (GRCm39)		probably null	Het
Hsdl1	A	G	8: 120,293,153 (GRCm39)	V73A	probably benign	Het
Kmt2c	A	T	5: 25,516,341 (GRCm39)	S2501T	probably benign	Het
Lrrc41	T	A	4: 115,945,683 (GRCm39)	F133I	probably benign	Het
Map3k19	C	A	1: 127,750,907 (GRCm39)	G815C	probably benign	Het
Muc13	C	A	16: 33,619,849 (GRCm39)	T199K	unknown	Het
Nif3l1	G	T	1: 58,487,105 (GRCm39)		probably null	Het
Nlrp12	A	T	7: 3,298,175 (GRCm39)		probably benign	Het
Nup205	T	C	6: 35,166,113 (GRCm39)	S244P	probably damaging	Het
Or7a37	A	T	10: 78,805,735 (GRCm39)	N84I	probably damaging	Het
Parl	G	A	16: 20,098,838 (GRCm39)		probably benign	Het
Pax8	A	G	2: 24,330,800 (GRCm39)	I211T	possibly damaging	Het
Pglyrp4	A	G	3: 90,638,160 (GRCm39)	E158G	possibly damaging	Het
Plekhm1	A	G	11: 103,271,057 (GRCm39)	L478P	probably benign	Het
Prss3b	T	C	6: 41,009,891 (GRCm39)	T148A	probably benign	Het
Serpina1a	C	T	12: 103,820,965 (GRCm39)	G338R	probably damaging	Het
Serpina5	T	C	12: 104,071,557 (GRCm39)	L388P	possibly damaging	Het
Sorbs1	A	G	19: 40,316,040 (GRCm39)	V367A	probably damaging	Het
Srgap2	A	G	1: 131,247,404 (GRCm39)		probably benign	Het
Surf1	A	G	2: 26,805,663 (GRCm39)	L26P	probably damaging	Het
Taf4	A	G	2: 179,580,263 (GRCm39)	S486P	probably benign	Het
Tdrd6	A	T	17: 43,939,281 (GRCm39)	V589E	probably damaging	Het
Txnrd3	G	A	6: 89,646,306 (GRCm39)	R295H	probably damaging	Het
Ubr5	G	T	15: 37,991,623 (GRCm39)		probably benign	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Usp32	A	G	11: 84,896,628 (GRCm39)		probably null	Het
Utp23	G	A	15: 51,745,761 (GRCm39)	R87K	probably benign	Het
Vps8	T	C	16: 21,285,234 (GRCm39)	I405T	possibly damaging	Het

Other mutations in Tuba3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03027:Tuba3b	APN	6	145,565,117 (GRCm39)	missense	probably damaging	1.00
IGL03336:Tuba3b	APN	6	145,565,450 (GRCm39)	missense	possibly damaging	0.90
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

2015-04-16