Mutagenetix > Incidental Mutation

Incidental Mutation 'R9251:Tubb4a'

701573

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 #

R9251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57387061-57394600 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57387778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 416 (N416I)

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

possibly damaging
Transcript: ENSMUST00000071135
AA Change: N416I

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000071135
Gene: ENSMUSG00000062591
AA Change: N416I

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

0.2921

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	G	T	16: 38,423,218 (GRCm39)	N949K	probably benign	Het
Arv1	T	A	8: 125,452,062 (GRCm39)	I76N	probably damaging	Het
Cfap44	G	A	16: 44,229,276 (GRCm39)	A189T	probably damaging	Het
Ch25h	T	C	19: 34,451,769 (GRCm39)	Y253C	probably damaging	Het
Cnot11	T	C	1: 39,581,587 (GRCm39)	M376T	probably damaging	Het
Cnot7	T	C	8: 40,964,622 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 118,012,618 (GRCm39)	S481F	probably benign	Het
Dnah2	C	T	11: 69,406,619 (GRCm39)	R541Q	probably damaging	Het
Dnah7a	C	T	1: 53,621,671 (GRCm39)	M1151I	probably damaging	Het
Dpf2	T	C	19: 5,957,166 (GRCm39)	D19G	probably damaging	Het
Eefsec	A	T	6: 88,332,574 (GRCm39)	M212K	probably damaging	Het
Elp6	G	A	9: 110,134,666 (GRCm39)	V12I	unknown	Het
Enox1	G	A	14: 77,852,997 (GRCm39)		probably null	Het
Epha1	G	T	6: 42,341,777 (GRCm39)	N424K	probably damaging	Het
Fam171a1	T	C	2: 3,226,525 (GRCm39)	S553P	probably benign	Het
Fbxw21	A	G	9: 108,974,687 (GRCm39)	S278P	probably damaging	Het
Gm45861	T	C	8: 28,032,589 (GRCm39)		probably null	Het
Gm4846	T	A	1: 166,311,307 (GRCm39)	R517S	probably benign	Het
Gnrhr	A	G	5: 86,345,221 (GRCm39)	L155P	possibly damaging	Het
Igfn1	C	T	1: 135,894,409 (GRCm39)		probably benign	Het
Ik	T	A	18: 36,880,495 (GRCm39)		probably null	Het
Insrr	A	T	3: 87,717,391 (GRCm39)	Q763L	probably benign	Het
Klf5	G	T	14: 99,538,824 (GRCm39)	C79F	possibly damaging	Het
Lrrcc1	A	T	3: 14,623,454 (GRCm39)	R760S	probably damaging	Het
Map3k7	T	A	4: 32,002,080 (GRCm39)		probably benign	Het
Mapkbp1	C	T	2: 119,853,671 (GRCm39)	A1159V	probably benign	Het
Mgst3	C	T	1: 167,205,860 (GRCm39)		probably null	Het
Mtch2	T	A	2: 90,679,980 (GRCm39)	F71I	probably damaging	Het
Myo1e	A	G	9: 70,276,076 (GRCm39)	I764V	probably benign	Het
Myo3b	T	A	2: 70,088,425 (GRCm39)	L896*	probably null	Het
Ndufs5	T	G	4: 123,606,628 (GRCm39)	E103A	probably benign	Het
Nfe2l1	G	A	11: 96,710,421 (GRCm39)	P603S	probably damaging	Het
Or6c211	T	A	10: 129,505,980 (GRCm39)	N136I	possibly damaging	Het
Or8g34	A	T	9: 39,373,668 (GRCm39)	M311L	probably benign	Het
Piezo1	T	C	8: 123,219,354 (GRCm39)	N1093S		Het
Pitpnb	G	A	5: 111,533,390 (GRCm39)	R258H	probably benign	Het
Pla2g4d	T	C	2: 120,099,378 (GRCm39)	E708G	possibly damaging	Het
Plppr4	T	A	3: 117,115,608 (GRCm39)	T750S	probably benign	Het
Prrg4	T	G	2: 104,675,399 (GRCm39)	E68A	probably damaging	Het
Rcan2	C	T	17: 44,328,701 (GRCm39)	T90M	possibly damaging	Het
Rlbp1	T	C	7: 79,027,093 (GRCm39)	E189G	probably damaging	Het
Satb1	A	G	17: 52,112,293 (GRCm39)	F107S	probably damaging	Het
Sdc3	A	T	4: 130,548,513 (GRCm39)		probably benign	Het
Slc22a3	A	T	17: 12,726,093 (GRCm39)	V40D	probably damaging	Het
Slc35d1	A	G	4: 103,048,027 (GRCm39)		probably null	Het
Slfn1	T	C	11: 83,012,121 (GRCm39)	F79S	probably damaging	Het
Snrpg	G	T	6: 86,353,557 (GRCm39)	V46L	probably benign	Het
Tbl1xr1	G	A	3: 22,264,569 (GRCm39)	C508Y	probably benign	Het
Thada	A	T	17: 84,538,564 (GRCm39)	D1481E	probably benign	Het
Tnfsf8	A	G	4: 63,779,217 (GRCm39)	V27A	probably benign	Het
Tns1	T	C	1: 74,030,855 (GRCm39)	H300R	probably damaging	Het
Ttc13	C	A	8: 125,401,992 (GRCm39)	G589V	probably benign	Het
Ttc28	A	G	5: 111,040,698 (GRCm39)	I29V	possibly damaging	Het
Ubr4	T	A	4: 139,177,636 (GRCm39)	I1884N		Het
Usp16	A	G	16: 87,266,640 (GRCm39)	K175E	probably benign	Het
Usp24	A	G	4: 106,217,715 (GRCm39)	I479M	probably benign	Het
Utrn	T	C	10: 12,512,531 (GRCm39)	T2313A	probably benign	Het
Ythdc2	T	C	18: 44,974,442 (GRCm39)	V368A	probably benign	Het
Zfp628	T	C	7: 4,923,880 (GRCm39)	S701P	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
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
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'- GAAGATGCTCATGGGGTCCTAG -3'
(R):5'- ATGTCAAGACAGCCGTATGTG -3'

Sequencing Primer
(F):5'- CTCATGGGGTCCTAGGGAATGAG -3'
(R):5'- GTCAAGACAGCCGTATGTGACATC -3'

Posted On

2022-03-25