Incidental Mutation 'R2440:Tubb4a'
ID 249770
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 # R2440 (G1)
Quality Score 162
Status Not validated
Chromosome 17
Chromosomal Location 57387061-57394600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57393285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 38 (G38W)
Ref Sequence ENSEMBL: ENSMUSP00000071135 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071135]
AlphaFold Q9D6F9
Predicted Effect probably damaging
Transcript: ENSMUST00000071135
AA Change: G38W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071135
Gene: ENSMUSG00000062591
AA Change: G38W

DomainStartEndE-ValueType
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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T C 15: 59,888,129 (GRCm39) T104A probably benign Het
Adar A G 3: 89,642,161 (GRCm39) H14R possibly damaging Het
Albfm1 A G 5: 90,720,548 (GRCm39) probably null Het
Alcam T A 16: 52,125,976 (GRCm39) M114L probably damaging Het
Ccn4 T A 15: 66,784,706 (GRCm39) D126E possibly damaging Het
Cntn5 A G 9: 10,171,960 (GRCm39) Y75H possibly damaging Het
Coch T C 12: 51,643,345 (GRCm39) S122P probably damaging Het
Cyp2c69 T C 19: 39,864,738 (GRCm39) K247E probably benign Het
Gm1527 A G 3: 28,949,764 (GRCm39) D8G probably damaging Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Itga8 G A 2: 12,183,491 (GRCm39) T751I possibly damaging Het
Kif5a A G 10: 127,067,205 (GRCm39) V904A probably benign Het
Lpgat1 A G 1: 191,492,321 (GRCm39) E269G probably benign Het
Or12j5 T A 7: 140,083,465 (GRCm39) K302N probably benign Het
Pde4d A G 13: 110,063,731 (GRCm39) probably benign Het
Rita1 T C 5: 120,748,004 (GRCm39) Y98C probably damaging Het
Surf1 A G 2: 26,803,919 (GRCm39) probably null Het
Sv2c A G 13: 96,185,084 (GRCm39) Y198H probably damaging Het
Svs3a T C 2: 164,131,551 (GRCm39) F41L possibly damaging Het
Tigd2 A G 6: 59,186,980 (GRCm39) probably benign Het
Tyrp1 G A 4: 80,764,843 (GRCm39) V7I probably benign Het
Unc45a A G 7: 79,978,805 (GRCm39) Y615H probably damaging Het
Other mutations in Tubb4a
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CACGGCTCTGGGAACATAGTTTC -3'
(R):5'- TGACAACAGGAGCATGCATATG -3'

Sequencing Primer
(F):5'- ACCTGTGGGGATGGCAG -3'
(R):5'- TATGAATGCACACACACAGAAAATGG -3'
Posted On 2014-11-12