Mutagenetix > Incidental Mutation

Incidental Mutation 'R9108:Tubb4a'

692105

Institutional Source

Beutler Lab

Gene Symbol

Tubb4a

Ensembl Gene

ENSMUSG00000062591

Gene Name

tubulin, beta 4A class IVA

Synonyms

Tubb4, Tubb

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9108 (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 57388232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 265 (F265L)

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 benign
Transcript: ENSMUST00000071135
AA Change: F265L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000071135
Gene: ENSMUSG00000062591
AA Change: F265L

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	A	18: 6,638,794 (GRCm39)	V398M	probably benign	Het
4930568D16Rik	G	A	2: 35,244,942 (GRCm39)	P137S	probably damaging	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abcg8	A	C	17: 85,000,243 (GRCm39)	I268L	probably benign	Het
Acvrl1	A	G	15: 101,039,038 (GRCm39)	Q445R	probably damaging	Het
Adam17	T	C	12: 21,380,132 (GRCm39)	N625D	probably benign	Het
Adamts9	C	T	6: 92,857,721 (GRCm39)	V856M	probably damaging	Het
Adar	T	C	3: 89,643,474 (GRCm39)	C452R	probably damaging	Het
Adgra3	G	T	5: 50,136,295 (GRCm39)	A730D	probably damaging	Het
Adnp2	C	T	18: 80,185,925 (GRCm39)	R16Q	probably damaging	Het
Aox1	T	C	1: 58,321,851 (GRCm39)	C48R	probably damaging	Het
Cabin1	T	C	10: 75,492,973 (GRCm39)	E1774G	possibly damaging	Het
Capsl	A	T	15: 9,465,910 (GRCm39)	I199F	possibly damaging	Het
Ccdc191	T	A	16: 43,718,512 (GRCm39)	D36E	possibly damaging	Het
Cep170	T	A	1: 176,616,051 (GRCm39)	K86*	probably null	Het
Cnnm1	T	C	19: 43,464,649 (GRCm39)	F736S	possibly damaging	Het
Col11a2	T	A	17: 34,276,634 (GRCm39)	V532E	probably benign	Het
Dnmt3l	T	C	10: 77,892,756 (GRCm39)		probably null	Het
Dync1h1	T	A	12: 110,622,706 (GRCm39)		probably benign	Het
Dzank1	C	A	2: 144,364,391 (GRCm39)	V69L	probably benign	Het
Epor	T	G	9: 21,870,875 (GRCm39)	E335A	probably damaging	Het
Fbxo46	A	T	7: 18,870,308 (GRCm39)	Y309F	probably damaging	Het
Fra10ac1	A	T	19: 38,202,779 (GRCm39)		probably benign	Het
Gid8	G	T	2: 180,352,132 (GRCm39)		probably benign	Het
Gm57858	T	G	3: 36,080,036 (GRCm39)	*240C	probably null	Het
Gnptab	C	T	10: 88,269,400 (GRCm39)	S701L		Het
Ifnl3	T	C	7: 28,223,704 (GRCm39)	L180P	probably benign	Het
Ikzf2	T	A	1: 69,577,956 (GRCm39)	I518F	probably damaging	Het
Ildr1	A	G	16: 36,535,919 (GRCm39)	T145A	probably benign	Het
Kiss1r	A	T	10: 79,754,336 (GRCm39)		probably benign	Het
Lhpp	A	G	7: 132,252,018 (GRCm39)	D219G	probably damaging	Het
Lrp1	A	T	10: 127,390,206 (GRCm39)	M3071K	probably damaging	Het
Map6	T	C	7: 98,986,103 (GRCm39)	L872P	probably damaging	Het
Mgst2	T	A	3: 51,589,233 (GRCm39)	L82Q	probably damaging	Het
Mier2	A	T	10: 79,377,756 (GRCm39)	V399E	probably benign	Het
Nms	T	C	1: 38,985,147 (GRCm39)	V91A	possibly damaging	Het
Nt5dc2	T	A	14: 30,857,016 (GRCm39)	Y145*	probably null	Het
Olfml2a	A	T	2: 38,831,753 (GRCm39)	M111L	probably benign	Het
Or5p63	T	C	7: 107,810,846 (GRCm39)	N297D	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,779 (GRCm39)	L172Q	unknown	Het
Plod3	T	C	5: 137,018,017 (GRCm39)	I221T	probably damaging	Het
Polm	T	C	11: 5,779,872 (GRCm39)	Q342R	probably benign	Het
Ppp2r5c	A	T	12: 110,521,303 (GRCm39)	L275F	probably damaging	Het
Prdm12	C	T	2: 31,533,929 (GRCm39)	T182M	possibly damaging	Het
Rasgrp2	G	A	19: 6,458,890 (GRCm39)	V440M	probably damaging	Het
Rnf111	C	T	9: 70,336,846 (GRCm39)	G947D	probably damaging	Het
Runx3	A	T	4: 134,882,692 (GRCm39)	M143L	probably damaging	Het
Samd9l	T	C	6: 3,373,104 (GRCm39)	S1386G	possibly damaging	Het
Saxo2	C	T	7: 82,284,082 (GRCm39)	V259I	probably benign	Het
Shroom3	T	C	5: 93,087,975 (GRCm39)	S242P	probably damaging	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Spata31d1a	A	G	13: 59,850,982 (GRCm39)	V382A	probably benign	Het
Tanc2	T	A	11: 105,810,580 (GRCm39)		probably benign	Het
Tenm3	A	T	8: 48,766,271 (GRCm39)		probably null	Het
Trip10	C	T	17: 57,560,519 (GRCm39)	A123V	probably damaging	Het
Trmt13	A	G	3: 116,375,129 (GRCm39)	S460P	probably damaging	Het
Trpd52l3	A	G	19: 29,981,329 (GRCm39)	N28S	probably benign	Het
Uba6	A	T	5: 86,282,934 (GRCm39)	C581S	possibly damaging	Het
Uckl1	A	G	2: 181,211,293 (GRCm39)	V512A	probably damaging	Het
Usp34	A	T	11: 23,320,528 (GRCm39)	M957L		Het
Vmn2r57	T	C	7: 41,078,192 (GRCm39)	I89V	possibly damaging	Het
Zfp1005	T	A	2: 150,109,969 (GRCm39)	C220S	possibly damaging	Het
Zfp322a	T	C	13: 23,541,437 (GRCm39)	I102V	probably benign	Het
Zzef1	A	G	11: 72,790,604 (GRCm39)	D2186G	probably benign	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
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'- AACGAAGTAACTGCTGTTCTTGC -3'
(R):5'- TACGACATCTGCTTCCGCAC -3'

Sequencing Primer
(F):5'- GCACACTTAACATCTGCTCG -3'
(R):5'- TGCTTCCGCACGCTCAAG -3'

Posted On

2021-12-30