Mutagenetix > Incidental Mutation

Incidental Mutation 'R0348:Tubb4a'

36031

Institutional Source

Beutler Lab

Gene Symbol

Tubb4a

Ensembl Gene

ENSMUSG00000062591

Gene Name

tubulin, beta 4A class IVA

Synonyms

Tubb4, Tubb

MMRRC Submission

038555-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57387061-57394600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 57387770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 419 (V419M)

Ref Sequence

ENSEMBL: ENSMUSP00000071135 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011623] [ENSMUST00000071135]

AlphaFold

Q9D6F9

Predicted Effect

probably benign
Transcript: ENSMUST00000011623

SMART Domains

Protein: ENSMUSP00000011623
Gene: ENSMUSG00000002668

Domain	Start	End	E-Value	Type
uDENN	9	89	1.18e-22	SMART
DENN	90	293	3.95e-74	SMART
low complexity region	312	318	N/A	INTRINSIC
dDENN	324	391	2.39e-18	SMART
low complexity region	560	579	N/A	INTRINSIC
low complexity region	657	675	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000071135
AA Change: V419M

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071135
Gene: ENSMUSG00000062591
AA Change: V419M

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.5%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	C	11: 3,844,987 (GRCm39)	D34G	probably benign	Het
Adam6a	T	C	12: 113,508,337 (GRCm39)	S237P	probably damaging	Het
Adamts13	A	C	2: 26,871,092 (GRCm39)	D235A	probably benign	Het
Adgb	T	A	10: 10,233,623 (GRCm39)	M1259L	probably benign	Het
Apbb1	T	C	7: 105,214,510 (GRCm39)	Q529R	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Camta1	T	C	4: 151,670,888 (GRCm39)	T96A	possibly damaging	Het
Ccdc148	A	T	2: 58,894,084 (GRCm39)		probably null	Het
Cep170b	T	C	12: 112,703,240 (GRCm39)	Y568H	probably damaging	Het
Clca4b	A	T	3: 144,627,741 (GRCm39)	I410N	probably damaging	Het
Cnot10	G	A	9: 114,427,838 (GRCm39)	T592I	probably benign	Het
Col6a3	C	T	1: 90,755,771 (GRCm39)	A173T	probably damaging	Het
Ctcf	T	A	8: 106,402,789 (GRCm39)	C560*	probably null	Het
Daglb	G	A	5: 143,472,951 (GRCm39)	V369I	probably benign	Het
Defb19	G	A	2: 152,422,146 (GRCm39)	L8F	unknown	Het
Emcn	G	T	3: 137,078,608 (GRCm39)	E65*	probably null	Het
Etl4	G	T	2: 20,782,940 (GRCm39)	R753L	probably damaging	Het
Fam151b	T	C	13: 92,586,689 (GRCm39)	Y248C	probably benign	Het
Fmo1	T	C	1: 162,663,704 (GRCm39)	D275G	probably benign	Het
Gjd4	A	G	18: 9,280,964 (GRCm39)	V38A	possibly damaging	Het
Hivep1	T	C	13: 42,311,855 (GRCm39)	V1365A	possibly damaging	Het
Hivep2	T	C	10: 14,005,702 (GRCm39)	S767P	possibly damaging	Het
Hoxa6	T	C	6: 52,183,548 (GRCm39)	T166A	possibly damaging	Het
Ift80	G	T	3: 68,843,232 (GRCm39)	L367I	probably benign	Het
Igf2bp1	T	C	11: 95,859,719 (GRCm39)	N369S	possibly damaging	Het
Igsf11	C	A	16: 38,829,179 (GRCm39)	D24E	probably benign	Het
Ints5	C	T	19: 8,873,114 (GRCm39)	L358F	probably damaging	Het
Kbtbd3	A	G	9: 4,330,519 (GRCm39)	T298A	possibly damaging	Het
Kif28	C	A	1: 179,558,818 (GRCm39)	V297F	probably damaging	Het
Krt12	T	C	11: 99,308,771 (GRCm39)	Y422C	probably damaging	Het
Lig1	T	A	7: 13,043,122 (GRCm39)	W856R	probably damaging	Het
Liph	C	T	16: 21,786,730 (GRCm39)		probably null	Het
Lrig3	T	A	10: 125,849,317 (GRCm39)	C1012*	probably null	Het
Lrit1	A	G	14: 36,782,182 (GRCm39)	E285G	probably damaging	Het
Lrrc31	A	G	3: 30,743,377 (GRCm39)	V196A	probably benign	Het
Lrrn4	T	C	2: 132,712,363 (GRCm39)	T487A	probably benign	Het
Mllt10	T	C	2: 18,167,424 (GRCm39)	Y372H	probably damaging	Het
Mrpl50	A	T	4: 49,514,515 (GRCm39)	V52E	probably damaging	Het
Mthfd1l	T	C	10: 4,006,766 (GRCm39)	V676A	probably damaging	Het
Ncl	C	T	1: 86,284,362 (GRCm39)	D245N	possibly damaging	Het
Neil1	A	T	9: 57,054,065 (GRCm39)		probably null	Het
Nfatc3	A	G	8: 106,818,827 (GRCm39)	E515G	probably damaging	Het
Nlrp4b	A	G	7: 10,449,108 (GRCm39)	E70G	possibly damaging	Het
Nme3	A	T	17: 25,115,491 (GRCm39)	I2F	possibly damaging	Het
Nup210	G	A	6: 91,051,292 (GRCm39)	H364Y	probably benign	Het
Nxpe3	T	A	16: 55,686,898 (GRCm39)	T37S	probably benign	Het
Olfm1	T	A	2: 28,102,554 (GRCm39)	M76K	probably benign	Het
Pgbd5	A	T	8: 125,160,771 (GRCm39)	V32E	probably damaging	Het
Plcb4	T	C	2: 135,810,339 (GRCm39)	M646T	probably damaging	Het
Plekha7	G	A	7: 115,757,255 (GRCm39)	P565L	probably damaging	Het
Poc5	A	G	13: 96,535,374 (GRCm39)	D213G	probably null	Het
Poli	A	G	18: 70,656,452 (GRCm39)	I125T	probably benign	Het
Ppm1f	T	C	16: 16,721,254 (GRCm39)	M1T	probably null	Het
Psmd7	T	C	8: 108,307,523 (GRCm39)	K320R	unknown	Het
Rabggtb	A	G	3: 153,615,954 (GRCm39)	V128A	probably damaging	Het
Rasa2	A	T	9: 96,454,012 (GRCm39)	L308H	probably damaging	Het
Serpina1d	C	T	12: 103,730,034 (GRCm39)	V383M	probably benign	Het
Sipa1l1	T	C	12: 82,431,530 (GRCm39)		probably null	Het
Sos1	T	C	17: 80,715,740 (GRCm39)	T1006A	probably benign	Het
Sugp1	T	A	8: 70,522,658 (GRCm39)	Y453N	probably damaging	Het
Taf3	A	T	2: 10,047,455 (GRCm39)	D64E	probably benign	Het
Tcf19	A	T	17: 35,826,801 (GRCm39)		probably null	Het
Trim60	T	A	8: 65,453,868 (GRCm39)	H127L	probably damaging	Het
Vmn2r22	G	T	6: 123,614,684 (GRCm39)	T302K	probably damaging	Het
Vmn2r68	T	G	7: 84,870,884 (GRCm39)	T800P	possibly damaging	Het
Zfhx2	A	C	14: 55,300,965 (GRCm39)	V2262G	probably damaging	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
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
RF013:Tubb4a	UTSW	17	57,394,464 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TTGGCCCTCATGGTGAAGATGCTC -3'
(R):5'- CAAGACAGCCGTATGTGACATCCC -3'

Sequencing Primer
(F):5'- AATGAGGCAACTAGGTGCAG -3'
(R):5'- GTATGTGACATCCCACCCCG -3'

Posted On

2013-05-09