Mutagenetix > Incidental Mutation

Incidental Mutation 'R0453:Tuba4a'

39731

Institutional Source

Beutler Lab

Gene Symbol

Tuba4a

Ensembl Gene

ENSMUSG00000026202

Gene Name

tubulin, alpha 4A

Synonyms

M[a]4, Tuba4

MMRRC Submission

038653-MU

Accession Numbers

Essential gene?

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

Stock #

R0453 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

75190872-75196509 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 75192502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 371 (V371L)

Ref Sequence

ENSEMBL: ENSMUSP00000140657 (fasta)

Gene Model

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

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: V399L

SMART Domains

Protein: ENSMUSP00000078429
Gene: ENSMUSG00000026202
AA Change: V399L

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: V371L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140657
Gene: ENSMUSG00000026202
AA Change: V371L

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: ENSMUST00000186492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186350

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156012

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: 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

probably benign
Transcript: ENSMUST00000180101

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

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: 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: ENSMUST00000190717

SMART Domains

Protein: ENSMUSP00000141097
Gene: ENSMUSG00000026202

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

Meta Mutation Damage Score

0.3085

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (97/98)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,765,445 (GRCm39)	K843*	probably null	Het
Adam26b	T	C	8: 43,973,387 (GRCm39)	I538M	probably benign	Het
Adamtsl1	T	C	4: 86,150,852 (GRCm39)	Y337H	probably damaging	Het
Ak7	T	C	12: 105,682,307 (GRCm39)	M156T	probably damaging	Het
Aldh3a1	A	G	11: 61,106,338 (GRCm39)	M238V	probably benign	Het
Asic4	T	A	1: 75,450,155 (GRCm39)		probably benign	Het
AW551984	A	G	9: 39,511,937 (GRCm39)	S25P	probably damaging	Het
Bbs7	T	A	3: 36,661,818 (GRCm39)	Y127F	possibly damaging	Het
Bco1	G	A	8: 117,835,516 (GRCm39)	E156K	possibly damaging	Het
Becn1	T	C	11: 101,181,275 (GRCm39)	D342G	probably damaging	Het
Birc6	T	A	17: 74,956,749 (GRCm39)	I3575N	probably damaging	Het
Brd10	T	C	19: 29,731,068 (GRCm39)	Y715C	probably damaging	Het
Cc2d2a	A	T	5: 43,860,636 (GRCm39)	M522L	probably benign	Het
Cerkl	A	G	2: 79,172,795 (GRCm39)	F293L	probably benign	Het
Chil3	T	G	3: 106,056,221 (GRCm39)	N311T	probably benign	Het
Cpeb2	T	A	5: 43,443,056 (GRCm39)		probably benign	Het
Cpxm2	A	G	7: 131,730,134 (GRCm39)	S162P	probably damaging	Het
Cracr2b	A	C	7: 141,044,176 (GRCm39)	E136A	probably damaging	Het
Cyp2a4	T	A	7: 26,012,258 (GRCm39)	M347K	probably benign	Het
Dicer1	C	A	12: 104,668,889 (GRCm39)	R1264S	probably benign	Het
Dlgap1	T	A	17: 71,068,341 (GRCm39)	N609K	probably benign	Het
Dnhd1	A	G	7: 105,323,651 (GRCm39)	T641A	probably benign	Het
Egfl8	T	C	17: 34,833,856 (GRCm39)	Y74C	probably damaging	Het
Esyt1	A	G	10: 128,348,078 (GRCm39)	S901P	probably benign	Het
Fam83e	A	T	7: 45,373,372 (GRCm39)	D246V	probably damaging	Het
Galnt2	T	C	8: 125,065,323 (GRCm39)		probably benign	Het
Hdc	A	G	2: 126,436,871 (GRCm39)		probably benign	Het
Herc1	A	C	9: 66,307,054 (GRCm39)	Q958P	probably benign	Het
Iqcg	T	A	16: 32,870,213 (GRCm39)		probably benign	Het
Iqub	A	T	6: 24,450,829 (GRCm39)	F590Y	probably damaging	Het
Jak2	T	C	19: 29,289,238 (GRCm39)	I1130T	probably benign	Het
Kbtbd11	G	A	8: 15,077,499 (GRCm39)	A33T	probably benign	Het
Kcnip4	A	G	5: 48,667,054 (GRCm39)	L37P	probably damaging	Het
Klk6	A	G	7: 43,477,963 (GRCm39)	N112D	probably damaging	Het
Kmt2c	G	A	5: 25,559,745 (GRCm39)	T1011I	probably damaging	Het
Knl1	A	T	2: 118,898,869 (GRCm39)	K190M	probably damaging	Het
Lama3	T	A	18: 12,598,535 (GRCm39)	S981T	possibly damaging	Het
Lrrc18	T	C	14: 32,730,608 (GRCm39)	L49P	probably damaging	Het
Lrrc31	T	C	3: 30,741,674 (GRCm39)	E245G	probably damaging	Het
Lypd10	T	A	7: 24,413,712 (GRCm39)	S243T	probably benign	Het
Macf1	T	C	4: 123,338,737 (GRCm39)	I2456M	probably benign	Het
Mcm6	T	A	1: 128,261,292 (GRCm39)	T771S	probably benign	Het
Met	A	C	6: 17,534,197 (GRCm39)	Y680S	possibly damaging	Het
Mixl1	T	A	1: 180,524,211 (GRCm39)	T123S	probably damaging	Het
Myh8	A	T	11: 67,183,731 (GRCm39)	I787F	probably benign	Het
Myocd	A	G	11: 65,087,051 (GRCm39)	F292S	probably damaging	Het
Neb	T	C	2: 52,203,902 (GRCm39)		probably null	Het
Nfe2l1	A	G	11: 96,718,194 (GRCm39)	S114P	probably damaging	Het
Nrxn2	T	C	19: 6,541,551 (GRCm39)	S986P	probably damaging	Het
Oprl1	T	C	2: 181,360,527 (GRCm39)		probably null	Het
Or11h6	T	C	14: 50,880,461 (GRCm39)	V241A	possibly damaging	Het
Or4a73	A	T	2: 89,421,095 (GRCm39)	Y121*	probably null	Het
Or5b101	T	G	19: 13,005,295 (GRCm39)	T133P	probably damaging	Het
Or6c8	A	G	10: 128,915,640 (GRCm39)	F64S	probably damaging	Het
Or8b53	G	A	9: 38,667,425 (GRCm39)	G147D	probably damaging	Het
Or8c9	A	T	9: 38,241,467 (GRCm39)	T195S	probably benign	Het
Panx2	T	A	15: 88,952,610 (GRCm39)	I359N	probably damaging	Het
Pik3c2b	T	A	1: 133,005,134 (GRCm39)	V545E	probably damaging	Het
Piwil4	T	C	9: 14,638,748 (GRCm39)	N259S	probably benign	Het
Plcxd2	A	T	16: 45,800,919 (GRCm39)	F102I	probably damaging	Het
Pld5	A	T	1: 175,917,522 (GRCm39)	M75K	possibly damaging	Het
Pmp22	T	A	11: 63,041,929 (GRCm39)		probably benign	Het
Polr2a	A	G	11: 69,631,845 (GRCm39)	S1074P	possibly damaging	Het
Pop1	T	A	15: 34,526,352 (GRCm39)	V649E	possibly damaging	Het
Prc1	A	G	7: 79,962,850 (GRCm39)	N548S	probably damaging	Het
Prss51	T	C	14: 64,334,588 (GRCm39)	L202P	probably damaging	Het
Rhpn1	T	C	15: 75,585,428 (GRCm39)	S576P	possibly damaging	Het
Rictor	A	G	15: 6,738,123 (GRCm39)	D20G	probably benign	Het
Rpl13a-ps1	A	T	19: 50,018,645 (GRCm39)	L177*	probably null	Het
Rpl23a-ps1	T	G	1: 46,021,087 (GRCm39)		noncoding transcript	Het
Saa2	A	G	7: 46,402,902 (GRCm39)	D51G	probably damaging	Het
Sec31a	A	T	5: 100,551,977 (GRCm39)		probably benign	Het
Secisbp2	G	A	13: 51,837,361 (GRCm39)	E841K	possibly damaging	Het
Serinc1	A	G	10: 57,393,306 (GRCm39)	Y437H	probably damaging	Het
Slc39a12	A	T	2: 14,440,492 (GRCm39)	H481L	probably benign	Het
Suz12	T	A	11: 79,920,859 (GRCm39)	N586K	probably damaging	Het
Synm	T	C	7: 67,386,630 (GRCm39)	Y344C	possibly damaging	Het
Tas2r104	A	G	6: 131,662,304 (GRCm39)	V135A	probably benign	Het
Tdrd9	T	C	12: 112,034,673 (GRCm39)	S1371P	probably benign	Het
Tg	T	A	15: 66,700,382 (GRCm39)	D893E	probably benign	Het
Thoc5	C	A	11: 4,868,217 (GRCm39)	D423E	possibly damaging	Het
Trim11	G	A	11: 58,881,361 (GRCm39)	R418H	probably damaging	Het
Trim52	T	G	14: 106,344,399 (GRCm39)	V19G	probably damaging	Het
Ugt8a	A	G	3: 125,708,606 (GRCm39)	V168A	probably benign	Het
Ulk1	C	T	5: 110,938,951 (GRCm39)	G496R	probably damaging	Het
Usp40	A	G	1: 87,874,320 (GRCm39)	*1236Q	probably null	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r24	A	G	6: 123,757,350 (GRCm39)		probably null	Het
Vmn2r53	A	G	7: 12,316,338 (GRCm39)	Y494H	probably damaging	Het
Vmn2r65	T	A	7: 84,595,442 (GRCm39)	D414V	probably benign	Het
Wdr26	A	T	1: 181,010,444 (GRCm39)	L519*	probably null	Het
Wnk1	A	G	6: 119,940,112 (GRCm39)	V173A	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp318	T	C	17: 46,707,634 (GRCm39)	S231P	probably damaging	Het
Zfp398	T	C	6: 47,842,782 (GRCm39)	V146A	probably benign	Het
Zfp410	T	C	12: 84,378,486 (GRCm39)	M270T	probably damaging	Het
Zfp445	A	T	9: 122,682,578 (GRCm39)	H454Q	possibly 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
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
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'- ACAGTGAACAGGCTCCAAGTAGCG -3'
(R):5'- ATGGTGAAATGTGACCCTCGGC -3'

Sequencing Primer
(F):5'- CTCATAGGAGTCGATGCCTAC -3'
(R):5'- CAAGTACATGGCCTGCTGC -3'

Posted On

2013-05-23