Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Tubb4a'

603372

Institutional Source

Beutler Lab

Gene Symbol

Tubb4a

Ensembl Gene

ENSMUSG00000062591

Gene Name

tubulin, beta 4A class IVA

Synonyms

Tubb4, Tubb

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57387061-57394600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 57394464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 17 (G17A)

Ref Sequence

ENSEMBL: ENSMUSP00000071135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071135] [ENSMUST00000112915]

AlphaFold

Q9D6F9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071135
AA Change: G17A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071135
Gene: ENSMUSG00000062591
AA Change: G17A

Domain	Start	End	E-Value	Type
Tubulin	47	244	4.45e-67	SMART
Tubulin_C	246	383	5.5e-49	SMART
low complexity region	428	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112915

SMART Domains

Protein: ENSMUSP00000108537
Gene: ENSMUSG00000079414

Domain	Start	End	E-Value	Type
low complexity region	66	78	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Adamts9	A	G	6: 92,920,126 (GRCm39)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,475,260 (GRCm39)		probably benign	Het
Alk	A	G	17: 72,202,931 (GRCm39)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,979 (GRCm39)		probably benign	Het
Ano3	A	C	2: 110,527,381 (GRCm39)	L609R	probably benign	Het
Bicc1	A	G	10: 70,771,660 (GRCm39)		probably null	Het
Bltp1	TTAT	TTATTATTATTATTAGTAT	3: 37,104,906 (GRCm39)		probably benign	Het
Card6	T	C	15: 5,129,624 (GRCm39)	I591V	probably benign	Het
Ccdc121rt2	T	A	5: 112,597,937 (GRCm39)	N161K	probably benign	Het
Ccdc18	A	G	5: 108,368,582 (GRCm39)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 47,047,670 (GRCm39)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,755,796 (GRCm39)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyp8b1	A	T	9: 121,744,561 (GRCm39)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,447,985 (GRCm39)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,327,751 (GRCm39)		probably benign	Het
Ercc6l2	A	T	13: 64,000,831 (GRCm39)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,522,706 (GRCm39)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Flvcr2	T	A	12: 85,793,960 (GRCm39)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,981,149 (GRCm39)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 71,314,022 (GRCm39)		probably benign	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm4884	C	A	7: 40,690,233 (GRCm39)	P43Q	probably damaging	Het
Grm8	A	G	6: 27,363,779 (GRCm39)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm39)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,479,650 (GRCm39)		probably benign	Het
Kif18b	T	C	11: 102,803,192 (GRCm39)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,019,856 (GRCm39)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,019,995 (GRCm39)		probably benign	Het
Lama1	C	A	17: 68,088,057 (GRCm39)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 122,969,059 (GRCm39)		probably null	Het
Lmna	A	G	3: 88,391,361 (GRCm39)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,295,542 (GRCm39)		probably null	Het
Mboat7	T	A	7: 3,694,856 (GRCm39)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,183,387 (GRCm39)		probably benign	Het
Morc2a	T	A	11: 3,626,191 (GRCm39)	M225K	probably benign	Het
Mpdz	G	A	4: 81,211,829 (GRCm39)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,455,924 (GRCm39)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,984 (GRCm39)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,799,565 (GRCm39)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,329,409 (GRCm39)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,342,751 (GRCm39)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,891,032 (GRCm39)		probably benign	Het
Numa1	T	C	7: 101,648,987 (GRCm39)	L906P	probably damaging	Het
Or6s1	G	A	14: 51,308,469 (GRCm39)	A127V	probably damaging	Het
Or7h8	T	C	9: 20,124,190 (GRCm39)	S182P	probably benign	Het
Otop2	G	T	11: 115,214,492 (GRCm39)	R83L	probably benign	Het
Pmm1	T	A	15: 81,842,014 (GRCm39)	Q62L	probably damaging	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,301,514 (GRCm39)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,756,800 (GRCm39)		probably benign	Het
Rps19	A	AGAAAAT	7: 24,588,605 (GRCm39)		probably benign	Het
Rsrp1	T	A	4: 134,651,266 (GRCm39)	V10E	unknown	Het
Sh2d6	C	T	6: 72,493,371 (GRCm39)		probably null	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Slc6a15	T	A	10: 103,236,077 (GRCm39)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Sost	A	T	11: 101,854,958 (GRCm39)	I117N	probably damaging	Het
Spmip5	A	G	19: 58,777,726 (GRCm39)	F28S	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,183,975 (GRCm39)		probably null	Het
Tcaf1	C	T	6: 42,656,107 (GRCm39)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,968,815 (GRCm39)		probably benign	Het
Tex55	T	C	16: 38,648,363 (GRCm39)	T249A	probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm39)	I15V	unknown	Het
Tmem241	A	T	18: 12,116,618 (GRCm39)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,032,270 (GRCm39)	V100G	probably benign	Het
Trim66	A	G	7: 109,059,960 (GRCm39)	S809P	probably damaging	Het
Txndc16	A	G	14: 45,406,795 (GRCm39)	V220A	probably benign	Het
Zan	T	A	5: 137,389,982 (GRCm39)	Q4830L	unknown	Het

Other mutations in Tubb4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00956:Tubb4a	APN	17	57,393,072 (GRCm39)	missense	probably benign	0.24
IGL02343:Tubb4a	APN	17	57,388,538 (GRCm39)	missense	probably benign
IGL02562:Tubb4a	APN	17	57,388,163 (GRCm39)	nonsense	probably null
G1citation:Tubb4a	UTSW	17	57,387,904 (GRCm39)	missense	probably damaging	0.99
P0022:Tubb4a	UTSW	17	57,388,538 (GRCm39)	missense	probably benign
R0043:Tubb4a	UTSW	17	57,388,114 (GRCm39)	missense	probably damaging	1.00
R0195:Tubb4a	UTSW	17	57,388,499 (GRCm39)	missense	probably damaging	1.00
R0309:Tubb4a	UTSW	17	57,388,182 (GRCm39)	nonsense	probably null
R0348:Tubb4a	UTSW	17	57,387,770 (GRCm39)	missense	probably damaging	0.98
R2440:Tubb4a	UTSW	17	57,393,285 (GRCm39)	missense	probably damaging	1.00
R2762:Tubb4a	UTSW	17	57,387,974 (GRCm39)	missense	probably benign
R3927:Tubb4a	UTSW	17	57,387,967 (GRCm39)	missense	probably benign	0.00
R6284:Tubb4a	UTSW	17	57,387,833 (GRCm39)	missense	probably damaging	1.00
R6351:Tubb4a	UTSW	17	57,388,016 (GRCm39)	missense	probably damaging	1.00
R6760:Tubb4a	UTSW	17	57,387,796 (GRCm39)	missense	possibly damaging	0.82
R6822:Tubb4a	UTSW	17	57,387,904 (GRCm39)	missense	probably damaging	0.99
R7381:Tubb4a	UTSW	17	57,387,698 (GRCm39)	missense	unknown
R7507:Tubb4a	UTSW	17	57,388,642 (GRCm39)	missense	probably damaging	1.00
R7892:Tubb4a	UTSW	17	57,387,880 (GRCm39)	nonsense	probably null
R8991:Tubb4a	UTSW	17	57,388,169 (GRCm39)	missense	probably benign	0.00
R9108:Tubb4a	UTSW	17	57,388,232 (GRCm39)	missense	probably benign	0.02
R9165:Tubb4a	UTSW	17	57,387,734 (GRCm39)	missense	unknown
R9215:Tubb4a	UTSW	17	57,387,769 (GRCm39)	missense	probably damaging	0.99
R9245:Tubb4a	UTSW	17	57,387,959 (GRCm39)	missense	possibly damaging	0.56
R9251:Tubb4a	UTSW	17	57,387,778 (GRCm39)	missense	possibly damaging	0.56
R9432:Tubb4a	UTSW	17	57,388,034 (GRCm39)	missense	probably benign
R9565:Tubb4a	UTSW	17	57,388,027 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCCAAGAGACATAAGGCC -3'
(R):5'- GGAGATCCCTACTTTTCCGAG -3'

Sequencing Primer
(F):5'- CAAAATTCCTGGGTGAGC -3'
(R):5'- CGTGAGTACTGCTCCGCAAATATAG -3'

Posted On

2019-12-04