Mutagenetix > Incidental Mutation

Incidental Mutation 'R6284:Tubb4a'

508137

Institutional Source

Beutler Lab

Gene Symbol

Tubb4a

Ensembl Gene

ENSMUSG00000062591

Gene Name

tubulin, beta 4A class IVA

Synonyms

Tubb4, Tubb

MMRRC Submission

044454-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57387061-57394600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57387833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 398 (Y398H)

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: Y398H

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

SMART Domains

Protein: ENSMUSP00000071135
Gene: ENSMUSG00000062591
AA Change: Y398H

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

Meta Mutation Damage Score

0.8917

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (64/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,324,437 (GRCm39)	G16C	probably damaging	Het
Abca7	G	A	10: 79,840,244 (GRCm39)	V801I	probably benign	Het
Adgrl2	A	T	3: 148,532,143 (GRCm39)	L1030Q	probably damaging	Het
Akap1	T	C	11: 88,735,394 (GRCm39)	T423A	possibly damaging	Het
Anpep	T	A	7: 79,475,550 (GRCm39)	D111V	probably damaging	Het
Atm	T	A	9: 53,356,676 (GRCm39)		probably null	Het
Atp5f1a	T	A	18: 77,866,168 (GRCm39)	S106T	probably benign	Het
Atp5me	T	C	5: 108,581,925 (GRCm39)	I20V	probably benign	Het
Atp6v0d2	T	A	4: 19,922,605 (GRCm39)		probably null	Het
Bclaf1	T	G	10: 20,197,906 (GRCm39)		probably null	Het
Bod1l	A	G	5: 41,976,130 (GRCm39)	V1728A	probably benign	Het
Braf	A	G	6: 39,665,216 (GRCm39)	F51L	possibly damaging	Het
Camsap2	A	G	1: 136,232,175 (GRCm39)	I140T	possibly damaging	Het
Ccdc24	A	T	4: 117,726,850 (GRCm39)		probably null	Het
Cdh26	G	C	2: 178,091,677 (GRCm39)	G79R	probably damaging	Het
Cenpf	A	G	1: 189,384,939 (GRCm39)	L2447P	probably damaging	Het
Cfap74	T	C	4: 155,536,253 (GRCm39)	F863L	probably damaging	Het
Clstn2	C	T	9: 97,336,727 (GRCm39)	G917S	probably benign	Het
Col6a6	A	T	9: 105,604,426 (GRCm39)		probably null	Het
Cul5	G	A	9: 53,535,035 (GRCm39)	P596L	probably damaging	Het
Dst	A	T	1: 34,268,166 (GRCm39)	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,971,384 (GRCm39)	E69G	possibly damaging	Het
Elp1	A	T	4: 56,762,281 (GRCm39)	I1106K	probably damaging	Het
Erich2	T	A	2: 70,370,028 (GRCm39)	I402N	probably damaging	Het
Fam162b	T	C	10: 51,461,598 (GRCm39)	K155R	probably damaging	Het
Fhip1a	G	A	3: 85,579,995 (GRCm39)	P737S	probably benign	Het
Glb1l2	A	T	9: 26,678,744 (GRCm39)	S466T	probably benign	Het
Kazn	G	A	4: 141,844,508 (GRCm39)	L402F	probably benign	Het
Kcnj13	A	T	1: 87,314,608 (GRCm39)	S205T	probably damaging	Het
Lama1	T	A	17: 68,117,091 (GRCm39)	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,563,411 (GRCm39)	C41G	unknown	Het
Lyar	T	A	5: 38,383,339 (GRCm39)	W77R	probably damaging	Het
Marchf11	G	A	15: 26,409,432 (GRCm39)	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,185,561 (GRCm39)	F869L	probably benign	Het
Myom1	T	A	17: 71,329,887 (GRCm39)	Y6*	probably null	Het
Myzap	T	C	9: 71,466,207 (GRCm39)	I150V	probably benign	Het
Nop14	C	T	5: 34,798,835 (GRCm39)		probably null	Het
Oprl1	T	A	2: 181,359,784 (GRCm39)		probably benign	Het
Pacsin1	T	C	17: 27,927,478 (GRCm39)	L432P	probably damaging	Het
Peak1	A	G	9: 56,167,580 (GRCm39)	L116P	probably benign	Het
Plcb2	C	T	2: 118,547,782 (GRCm39)	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,723,416 (GRCm39)	I269N	probably damaging	Het
Pnpla7	C	A	2: 24,906,630 (GRCm39)	D664E	possibly damaging	Het
Ppa2	G	A	3: 133,076,178 (GRCm39)	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,211,186 (GRCm39)	T113K	probably benign	Het
Rrp7a	A	T	15: 83,006,061 (GRCm39)	I63N	probably damaging	Het
Slc29a1	A	G	17: 45,900,847 (GRCm39)		probably null	Het
Slco1a7	T	C	6: 141,671,119 (GRCm39)	D451G	probably damaging	Het
Stxbp5	C	A	10: 9,642,931 (GRCm39)	G1056V	probably damaging	Het
Stxbp5	A	C	10: 9,642,923 (GRCm39)	S1059A	probably benign	Het
Taldo1	T	A	7: 140,978,496 (GRCm39)	S149T	possibly damaging	Het
Tlr1	T	C	5: 65,084,442 (GRCm39)	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 122,770,558 (GRCm39)	S783P	probably damaging	Het
Trap1	A	G	16: 3,878,673 (GRCm39)	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,601 (GRCm39)	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,773,028 (GRCm39)	E235G	probably damaging	Het
Ube2z	A	G	11: 95,941,233 (GRCm39)	F303S	probably damaging	Het
Vmn1r211	A	G	13: 23,036,254 (GRCm39)	S138P	probably damaging	Het
Zfp1002	T	A	2: 150,097,198 (GRCm39)	Y77F	possibly damaging	Het
Zfp93	T	A	7: 23,975,054 (GRCm39)	C346*	probably null	Het
Zfp938	A	T	10: 82,063,400 (GRCm39)	S52R	possibly damaging	Het
Zp1	A	T	19: 10,893,867 (GRCm39)	L446Q	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
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
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'- TCAAAGCTTTGCTGGTGGGC -3'
(R):5'- GACGAGCAGATGTTAAGTGTGC -3'

Sequencing Primer
(F):5'- CCCCAGGGACAGAGTGATG -3'
(R):5'- GCAAGAACAGCAGTTACTTCGTTG -3'

Posted On

2018-03-15