Mutagenetix > Incidental Mutation

Incidental Mutation 'R1488:Tuba4a'

165475

Institutional Source

Beutler Lab

Gene Symbol

Tuba4a

Ensembl Gene

ENSMUSG00000026202

Gene Name

tubulin, alpha 4A

Synonyms

M[a]4, Tuba4

MMRRC Submission

039540-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.389) question?

Stock #

R1488 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75190872-75196509 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75193045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 190 (T190A)

Ref Sequence

ENSEMBL: ENSMUSP00000140657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027401] [ENSMUST00000123825] [ENSMUST00000186213] [ENSMUST00000144355] [ENSMUST00000186758] [ENSMUST00000188593] [ENSMUST00000180101] [ENSMUST00000179573] [ENSMUST00000188460] [ENSMUST00000189131] [ENSMUST00000189698] [ENSMUST00000190717] [ENSMUST00000191108]

AlphaFold

P68368

Predicted Effect

probably benign
Transcript: ENSMUST00000027401

SMART Domains

Protein: ENSMUSP00000027401
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	290	3.3e-47	PFAM
Pfam:Pkinase_Tyr	21	290	3e-28	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000079464
AA Change: T218A

SMART Domains

Protein: ENSMUSP00000078429
Gene: ENSMUSG00000026202
AA Change: T218A

Domain	Start	End	E-Value	Type
Tubulin	49	246	4.34e-79	SMART
Tubulin_C	248	393	7.88e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123825

SMART Domains

Protein: ENSMUSP00000122688
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	122	9.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139627

Predicted Effect

probably benign
Transcript: ENSMUST00000186213
AA Change: T190A

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140657
Gene: ENSMUSG00000026202
AA Change: T190A

Domain	Start	End	E-Value	Type
Tubulin	49	246	4.34e-79	SMART
Tubulin_C	248	393	7.88e-59	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186492

Predicted Effect

probably benign
Transcript: ENSMUST00000144355

SMART Domains

Protein: ENSMUSP00000115964
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	122	9.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186758

SMART Domains

Protein: ENSMUSP00000140552
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Pfam:Tubulin	1	100	1.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188593

SMART Domains

Protein: ENSMUSP00000140881
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Pfam:Tubulin	2	75	2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180101

Predicted Effect

probably benign
Transcript: ENSMUST00000179573

Predicted Effect

probably benign
Transcript: ENSMUST00000188460

SMART Domains

Protein: ENSMUSP00000139998
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
S_TKc	20	172	1e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189242

Predicted Effect

probably benign
Transcript: ENSMUST00000189131

SMART Domains

Protein: ENSMUSP00000140970
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Pfam:Tubulin	1	81	3.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189698

SMART Domains

Protein: ENSMUSP00000140329
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
S_TKc	20	203	1.1e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000190717

SMART Domains

Protein: ENSMUSP00000141097
Gene: ENSMUSG00000026202

Domain	Start	End	E-Value	Type
Pfam:Tubulin	1	89	1.4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191108

SMART Domains

Protein: ENSMUSP00000139846
Gene: ENSMUSG00000026201

Domain	Start	End	E-Value	Type
Pfam:Pkinase	20	186	8.6e-29	PFAM
Pfam:Pkinase_Tyr	21	184	2.1e-14	PFAM

Meta Mutation Damage Score

0.1586

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes and they are highly conserved among and between species. This gene encodes an alpha tubulin that is a highly conserved homolog of a rat testis-specific alpha tubulin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	G	6: 48,910,381 (GRCm39)	N691S	possibly damaging	Het
Arhgap23	A	G	11: 97,391,685 (GRCm39)	S1401G	possibly damaging	Het
Art2b	A	C	7: 101,229,414 (GRCm39)	F162V	probably damaging	Het
Atg4c	T	A	4: 99,109,479 (GRCm39)	W149R	probably damaging	Het
Atxn1l	A	G	8: 110,460,049 (GRCm39)	I71T	probably benign	Het
Axdnd1	T	A	1: 156,176,530 (GRCm39)	L748F	probably damaging	Het
Bdh2	A	G	3: 135,002,602 (GRCm39)	Y157C	probably damaging	Het
C2cd4a	G	T	9: 67,738,990 (GRCm39)	R18S	probably benign	Het
Catsperb	A	G	12: 101,560,526 (GRCm39)	H839R	probably damaging	Het
Ccdc24	C	A	4: 117,727,765 (GRCm39)	S134I	possibly damaging	Het
Cd55	G	T	1: 130,376,115 (GRCm39)	T70K	probably damaging	Het
Cdh10	A	T	15: 19,013,349 (GRCm39)	I650F	probably damaging	Het
Clca3a2	T	A	3: 144,789,925 (GRCm39)	K470N	possibly damaging	Het
Csn2	G	A	5: 87,842,755 (GRCm39)	Q91*	probably null	Het
Ctsh	G	A	9: 89,953,944 (GRCm39)	D218N	possibly damaging	Het
Cyb5r4	C	G	9: 86,911,591 (GRCm39)	Y88*	probably null	Het
Dgkq	A	G	5: 108,798,743 (GRCm39)	F601S	probably damaging	Het
Eci2	A	G	13: 35,161,916 (GRCm39)	V352A	probably benign	Het
Krt28	T	C	11: 99,255,997 (GRCm39)	T421A	probably benign	Het
Lamp5	T	C	2: 135,911,011 (GRCm39)	V248A	probably benign	Het
Lin9	T	A	1: 180,515,850 (GRCm39)	L483Q	possibly damaging	Het
Lrp1b	C	A	2: 41,392,036 (GRCm39)	M509I	probably benign	Het
Lrrfip1	T	C	1: 91,042,354 (GRCm39)	V253A	probably damaging	Het
Mpdz	C	A	4: 81,266,945 (GRCm39)	E981*	probably null	Het
Mpo	A	C	11: 87,688,256 (GRCm39)	N305T	probably damaging	Het
Or2y1	A	G	11: 49,385,945 (GRCm39)	E195G	probably benign	Het
Or51a24	T	C	7: 103,733,859 (GRCm39)	I143V	probably benign	Het
Or5p79	A	T	7: 108,221,696 (GRCm39)	I226F	probably damaging	Het
Papss2	T	C	19: 32,614,490 (GRCm39)	S69P	probably benign	Het
Pcdhb22	A	G	18: 37,652,941 (GRCm39)	T470A	possibly damaging	Het
Plce1	A	G	19: 38,705,247 (GRCm39)	D884G	possibly damaging	Het
Prex2	T	A	1: 11,263,752 (GRCm39)	I1239K	probably benign	Het
Prkd2	T	A	7: 16,592,364 (GRCm39)	F625I	probably damaging	Het
Rab20	A	T	8: 11,504,268 (GRCm39)	V144E	probably benign	Het
Rnf213	A	G	11: 119,371,715 (GRCm39)	N4840S	probably benign	Het
Scaf8	T	G	17: 3,247,872 (GRCm39)	M1065R	probably damaging	Het
Slco3a1	A	G	7: 73,996,449 (GRCm39)	L319P	possibly damaging	Het
Slit1	A	G	19: 41,596,824 (GRCm39)	C1092R	probably damaging	Het
Tlr4	A	G	4: 66,757,786 (GRCm39)	D193G	probably damaging	Het
Tmem145	T	A	7: 25,006,860 (GRCm39)		probably null	Het
Tmem184a	T	A	5: 139,793,395 (GRCm39)	K235N	probably benign	Het
Tnpo1	A	T	13: 98,993,415 (GRCm39)	D590E	probably damaging	Het
Trio	C	A	15: 27,741,053 (GRCm39)	G2724V	probably damaging	Het
Ttc6	A	T	12: 57,696,301 (GRCm39)	Y34F	possibly damaging	Het
Tubgcp4	T	G	2: 121,007,031 (GRCm39)	V136G	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r74	T	C	7: 11,581,510 (GRCm39)	I270T	probably benign	Het
Vmn2r103	A	T	17: 20,013,922 (GRCm39)	E238V	probably damaging	Het
Vmn2r60	T	A	7: 41,786,137 (GRCm39)	F313L	probably benign	Het
Zfp710	T	C	7: 79,731,752 (GRCm39)	Y310H	probably damaging	Het

Other mutations in Tuba4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01346:Tuba4a	APN	1	75,193,921 (GRCm39)	missense	probably damaging	1.00
andropov	UTSW	1	75,194,038 (GRCm39)	missense	probably damaging	1.00
R0453:Tuba4a	UTSW	1	75,192,502 (GRCm39)	missense	probably damaging	1.00
R0573:Tuba4a	UTSW	1	75,193,017 (GRCm39)	missense	probably benign	0.01
R1660:Tuba4a	UTSW	1	75,192,547 (GRCm39)	missense	probably benign	0.35
R1836:Tuba4a	UTSW	1	75,192,754 (GRCm39)	missense	probably benign	0.20
R2012:Tuba4a	UTSW	1	75,192,983 (GRCm39)	nonsense	probably null
R2437:Tuba4a	UTSW	1	75,194,069 (GRCm39)	missense	possibly damaging	0.47
R4180:Tuba4a	UTSW	1	75,192,426 (GRCm39)	missense	probably benign	0.33
R5505:Tuba4a	UTSW	1	75,193,060 (GRCm39)	missense	probably damaging	1.00
R6137:Tuba4a	UTSW	1	75,192,699 (GRCm39)	missense	probably damaging	1.00
R6189:Tuba4a	UTSW	1	75,193,518 (GRCm39)	missense	probably benign	0.34
R6566:Tuba4a	UTSW	1	75,193,930 (GRCm39)	missense	probably damaging	1.00
R6837:Tuba4a	UTSW	1	75,194,038 (GRCm39)	missense	probably damaging	1.00
R6883:Tuba4a	UTSW	1	75,194,066 (GRCm39)	missense	probably damaging	1.00
R7213:Tuba4a	UTSW	1	75,192,341 (GRCm39)	missense	possibly damaging	0.86
R7765:Tuba4a	UTSW	1	75,193,003 (GRCm39)	missense	probably benign	0.25
R8071:Tuba4a	UTSW	1	75,193,595 (GRCm39)	missense
R8326:Tuba4a	UTSW	1	75,195,265 (GRCm39)	missense
R8334:Tuba4a	UTSW	1	75,193,945 (GRCm39)	missense	probably benign	0.00
R8941:Tuba4a	UTSW	1	75,193,945 (GRCm39)	missense	probably benign	0.00
R9428:Tuba4a	UTSW	1	75,192,686 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GCAGCATTCACATCTTTGGGCAC -3'
(R):5'- TCAGGGCTTCCTAGTATTCCACAGC -3'

Sequencing Primer
(F):5'- AACTCTGTCAGGTCCACATTGAG -3'
(R):5'- CCTAGTATTCCACAGCTTTGGAGG -3'

Posted On

2014-03-28