Mutagenetix > Incidental Mutation

Incidental Mutation 'R8334:Tuba4a'

644495

Institutional Source

Beutler Lab

Gene Symbol

Tuba4a

Ensembl Gene

ENSMUSG00000026202

Gene Name

tubulin, alpha 4A

Synonyms

M[a]4, Tuba4

MMRRC Submission

067862-MU

Accession Numbers

Essential gene?

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

Stock #

R8334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75190872-75196509 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75193945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 74 (D74G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027401] [ENSMUST00000179573] [ENSMUST00000180101] [ENSMUST00000186213] [ENSMUST00000186758] [ENSMUST00000188460] [ENSMUST00000188593] [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

probably benign
Transcript: ENSMUST00000079464
AA Change: D74G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000078429
Gene: ENSMUSG00000026202
AA Change: D74G

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: ENSMUST00000179573

Predicted Effect

probably benign
Transcript: ENSMUST00000180101

Predicted Effect

probably benign
Transcript: ENSMUST00000186213
AA Change: D46G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140657
Gene: ENSMUSG00000026202
AA Change: D46G

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: ENSMUST00000186758
AA Change: D31G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140552
Gene: ENSMUSG00000026202
AA Change: D31G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186971
AA Change: D38G

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

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 damaging
Transcript: ENSMUST00000188593
AA Change: D45G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140881
Gene: ENSMUSG00000026202
AA Change: D45G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189131
AA Change: D31G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140970
Gene: ENSMUSG00000026202
AA Change: D31G

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
AA Change: D31G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000141097
Gene: ENSMUSG00000026202
AA Change: D31G

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

0.2282

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,959,650 (GRCm39)	S696T	probably damaging	Het
Abhd12	T	C	2: 150,700,373 (GRCm39)	I75V	probably benign	Het
Adamts9	T	C	6: 92,914,225 (GRCm39)		probably null	Het
Ap2a1	C	T	7: 44,554,135 (GRCm39)	V499I	possibly damaging	Het
Arhgef16	T	A	4: 154,367,224 (GRCm39)	K394*	probably null	Het
Armc2	A	G	10: 41,799,761 (GRCm39)	F699S	probably damaging	Het
Atat1	C	T	17: 36,220,150 (GRCm39)		probably null	Het
Atm	A	G	9: 53,433,573 (GRCm39)	S226P	probably benign	Het
Bcas3	A	G	11: 85,467,637 (GRCm39)	T687A	possibly damaging	Het
Bmp2k	T	C	5: 97,175,753 (GRCm39)	M78T	possibly damaging	Het
Brinp3	T	A	1: 146,777,791 (GRCm39)	L746H	probably damaging	Het
Capn8	G	A	1: 182,438,670 (GRCm39)		probably null	Het
Ccdc154	T	A	17: 25,390,581 (GRCm39)	F602I	probably damaging	Het
Celsr3	CGGGG	CGGGGG	9: 108,718,471 (GRCm39)		probably null	Het
Chd3	A	G	11: 69,241,622 (GRCm39)	F1504L	probably damaging	Het
Cpsf1	A	T	15: 76,487,787 (GRCm39)	N77K	probably benign	Het
Crybb3	T	A	5: 113,223,845 (GRCm39)	Q188L	possibly damaging	Het
Dnah8	T	A	17: 30,988,805 (GRCm39)	H3258Q	probably benign	Het
Dnajb6	C	T	5: 29,986,238 (GRCm39)	R269W	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Ech1	A	G	7: 28,531,248 (GRCm39)	I279V	probably benign	Het
Ehbp1	C	A	11: 21,957,170 (GRCm39)	R1173L	probably damaging	Het
Ehd4	T	C	2: 119,967,545 (GRCm39)	E83G	probably damaging	Het
Epha7	A	G	4: 28,938,777 (GRCm39)	E544G	probably benign	Het
Esp23	A	G	17: 39,384,795 (GRCm39)	V67A	possibly damaging	Het
Etl4	T	C	2: 20,785,857 (GRCm39)	V726A	probably damaging	Het
Fbxo39	G	A	11: 72,208,470 (GRCm39)	W274*	probably null	Het
Filip1l	T	C	16: 57,390,510 (GRCm39)	I366T	probably benign	Het
Gm4841	T	C	18: 60,404,054 (GRCm39)	D13G	probably benign	Het
Gtpbp2	T	A	17: 46,477,368 (GRCm39)	F411Y	possibly damaging	Het
Kmt5b	G	T	19: 3,864,795 (GRCm39)	V620L	probably benign	Het
Lrrc24	T	C	15: 76,600,200 (GRCm39)	Q313R	probably benign	Het
Lsm1	A	G	8: 26,292,047 (GRCm39)	E108G	probably benign	Het
Macf1	T	C	4: 123,325,901 (GRCm39)	K5201E	possibly damaging	Het
Matcap2	A	G	9: 22,355,414 (GRCm39)	E483G	probably benign	Het
Mettl25b	C	T	3: 87,835,056 (GRCm39)	V31I	possibly damaging	Het
Mki67	G	T	7: 135,298,245 (GRCm39)	T2263K	probably damaging	Het
Mroh1	G	A	15: 76,330,756 (GRCm39)	G1156S	probably benign	Het
Ncor1	A	T	11: 62,274,070 (GRCm39)	M190K	probably damaging	Het
Nsmce3	A	G	7: 64,522,467 (GRCm39)	V67A	probably damaging	Het
Nuggc	T	C	14: 65,882,478 (GRCm39)	V741A	probably benign	Het
Olfm3	G	T	3: 114,916,206 (GRCm39)	L379F	probably damaging	Het
Or4x13	T	C	2: 90,231,277 (GRCm39)	S91P	probably benign	Het
Or8g21	T	A	9: 38,905,889 (GRCm39)	I281F	probably benign	Het
Pcdhb13	A	G	18: 37,577,853 (GRCm39)	T744A	probably damaging	Het
Plek	T	C	11: 16,933,220 (GRCm39)	T298A	probably benign	Het
Pou5f2	A	G	13: 78,173,392 (GRCm39)	I111M	probably benign	Het
Pou6f2	C	T	13: 18,299,991 (GRCm39)	R556H	probably damaging	Het
Pramel58	T	G	5: 94,830,635 (GRCm39)	N44K	probably benign	Het
Rcor1	G	A	12: 111,059,529 (GRCm39)	A148T		Het
Rnh1	A	G	7: 140,748,544 (GRCm39)	V11A	probably benign	Het
Slc35f1	T	C	10: 52,984,244 (GRCm39)	F335L	possibly damaging	Het
Srrm2	T	C	17: 24,027,330 (GRCm39)	V22A	unknown	Het
St7	A	T	6: 17,934,220 (GRCm39)	H534L	probably damaging	Het
Swi5	T	A	2: 32,170,463 (GRCm39)		probably benign	Het
Syf2	T	A	4: 134,658,586 (GRCm39)	H40Q	probably benign	Het
Tgtp2	G	A	11: 48,949,721 (GRCm39)	L284F	probably benign	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Trbc1	A	C	6: 41,516,046 (GRCm39)		probably benign	Het
Trim33	A	T	3: 103,261,145 (GRCm39)	T1115S	probably benign	Het
Ttc22	C	A	4: 106,496,115 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,638,374 (GRCm39)	A13969T	probably damaging	Het
Ube3c	T	A	5: 29,795,882 (GRCm39)	D90E	probably benign	Het
Ubr7	T	C	12: 102,724,397 (GRCm39)	V37A	probably damaging	Het
Vmn2r28	A	C	7: 5,487,059 (GRCm39)	C535G	probably damaging	Het
Wdr36	A	G	18: 32,992,346 (GRCm39)	T628A	possibly damaging	Het
Whrn	C	T	4: 63,413,047 (GRCm39)	V142M	probably damaging	Het
Wnk2	A	T	13: 49,203,958 (GRCm39)		probably null	Het
Xkr7	C	T	2: 152,896,883 (GRCm39)	T579I	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
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
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'- AAGAGCTAGCTCATCCTTCTGC -3'
(R):5'- AGGACTTATGCTGTGACCTTC -3'

Sequencing Primer
(F):5'- TCTTCAGCTTCAAATAAACCAAGAGG -3'
(R):5'- CTCTGTATCCCTCAGCGCGAG -3'

Posted On

2020-09-02