Mutagenetix > Incidental Mutation

Incidental Mutation 'R5505:Tuba4a'

430859

Institutional Source

Beutler Lab

Gene Symbol

Tuba4a

Ensembl Gene

ENSMUSG00000026202

Gene Name

tubulin, alpha 4A

Synonyms

M[a]4, Tuba4

MMRRC Submission

043066-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R5505 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75190872-75196509 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75193060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 185 (Y185H)

Ref Sequence

ENSEMBL: ENSMUSP00000140657 (fasta)

Gene Model

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

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: Y213H

SMART Domains

Protein: ENSMUSP00000078429
Gene: ENSMUSG00000026202
AA Change: Y213H

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 damaging
Transcript: ENSMUST00000186213
AA Change: Y185H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140657
Gene: ENSMUSG00000026202
AA Change: Y185H

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: ENSMUST00000187103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156012

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142052

Predicted Effect

probably benign
Transcript: ENSMUST00000179573

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: ENSMUST00000186971

Predicted Effect

probably benign
Transcript: ENSMUST00000180101

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: ENSMUST00000188593

SMART Domains

Protein: ENSMUSP00000140881
Gene: ENSMUSG00000026202

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189242

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

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: ENSMUST00000189131

SMART Domains

Protein: ENSMUSP00000140970
Gene: ENSMUSG00000026202

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

Meta Mutation Damage Score

0.9651

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.9%

Validation Efficiency

98% (47/48)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	T	A	5: 24,606,036 (GRCm39)	D240E	probably damaging	Het
Alpk3	G	A	7: 80,728,309 (GRCm39)	E480K	possibly damaging	Het
Arhgap20	A	G	9: 51,750,248 (GRCm39)	E372G	probably damaging	Het
Atp23	G	T	10: 126,723,499 (GRCm39)	A201D	probably damaging	Het
Bpifb1	A	G	2: 154,046,699 (GRCm39)	D73G	probably benign	Het
Ccdc7a	A	G	8: 129,706,655 (GRCm39)	S325P	possibly damaging	Het
Cckar	A	G	5: 53,860,410 (GRCm39)	Y140H	probably damaging	Het
Cd46	A	T	1: 194,767,688 (GRCm39)	D124E	possibly damaging	Het
Cep290	T	C	10: 100,335,048 (GRCm39)		probably null	Het
Cmklr1	C	G	5: 113,752,990 (GRCm39)	D4H	possibly damaging	Het
Eif2ak1	T	C	5: 143,803,745 (GRCm39)	S34P	probably benign	Het
Enah	T	A	1: 181,734,018 (GRCm39)		probably benign	Het
Gad2	C	G	2: 22,514,845 (GRCm39)	L108V	probably benign	Het
Gpr22	T	C	12: 31,759,724 (GRCm39)	I133V	probably damaging	Het
Hdac4	T	C	1: 91,903,187 (GRCm39)	T13A	probably benign	Het
Ighv1-4	A	G	12: 114,451,057 (GRCm39)	V17A	possibly damaging	Het
Ints8	T	A	4: 11,221,143 (GRCm39)	Q744L	probably benign	Het
Lrit3	C	T	3: 129,585,087 (GRCm39)	V224I	possibly damaging	Het
Mgat4a	T	C	1: 37,535,035 (GRCm39)	I108V	probably benign	Het
Mmp9	T	C	2: 164,795,528 (GRCm39)	I682T	probably benign	Het
Myh7b	G	A	2: 155,474,592 (GRCm39)	A1742T	probably benign	Het
Nlrp12	C	T	7: 3,298,015 (GRCm39)	G52D	probably damaging	Het
Or5t9	T	C	2: 86,659,845 (GRCm39)	F250L	possibly damaging	Het
Pcnx1	T	C	12: 81,996,927 (GRCm39)	L941P	probably damaging	Het
Pla2g4e	T	C	2: 120,075,256 (GRCm39)	R45G	probably benign	Het
Plcz1	C	G	6: 139,961,942 (GRCm39)	G203A	probably damaging	Het
Poldip2	A	G	11: 78,406,001 (GRCm39)	T76A	probably benign	Het
Prdm15	T	A	16: 97,618,183 (GRCm39)	H325L	possibly damaging	Het
Ralyl	A	T	3: 13,841,980 (GRCm39)	I39F	probably damaging	Het
Rnf220	A	C	4: 117,153,288 (GRCm39)		probably benign	Het
Rnpc3	T	C	3: 113,409,102 (GRCm39)	K318E	probably damaging	Het
Rsbn1	T	A	3: 103,836,259 (GRCm39)	N432K	probably damaging	Het
Sh3yl1	T	A	12: 30,992,072 (GRCm39)	Y176N	probably damaging	Het
Slc25a30	G	A	14: 76,000,789 (GRCm39)	L272F	probably damaging	Het
Spag1	T	C	15: 36,234,772 (GRCm39)	V844A	probably damaging	Het
Srsf5	T	C	12: 80,995,857 (GRCm39)		probably benign	Het
Tle2	T	A	10: 81,417,574 (GRCm39)	D223E	probably benign	Het
Tmem192	A	G	8: 65,416,898 (GRCm39)	E39G	possibly damaging	Het
Trpc6	T	A	9: 8,626,736 (GRCm39)	L362H	probably damaging	Het
Uba6	A	G	5: 86,268,405 (GRCm39)	V941A	probably benign	Het
Vmn2r35	A	T	7: 7,789,479 (GRCm39)	Y753N	probably damaging	Het
Zfp941	C	T	7: 140,391,830 (GRCm39)	V510I	probably benign	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
R1488:Tuba4a	UTSW	1	75,193,045 (GRCm39)	missense	probably benign	0.08
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
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'- CAGGTTGGTCTGGAACTCTG -3'
(R):5'- TGATCAGTGCACAGGACTTC -3'

Sequencing Primer
(F):5'- GAACTCTGTCAGGTCCACATTGAG -3'
(R):5'- ACAGGACTTCAGGGCTTCCTAG -3'

Posted On

2016-10-05