Incidental Mutation 'R9432:Tubb4a'
ID 713060
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 # R9432 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 57387061-57394600 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57388034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 331 (L331I)
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

DomainStartEndE-ValueType
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: L331I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071135
Gene: ENSMUSG00000062591
AA Change: L331I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T C 5: 109,884,917 (GRCm39) R314G unknown Het
Abca13 G A 11: 9,244,559 (GRCm39) V2141M probably benign Het
Abcc10 G A 17: 46,634,710 (GRCm39) A431V possibly damaging Het
Acod1 A G 14: 103,292,414 (GRCm39) R313G probably damaging Het
Adam3 G T 8: 25,193,928 (GRCm39) S361R probably damaging Het
Ahcyl2 C T 6: 29,768,874 (GRCm39) T113M possibly damaging Het
Ano8 C A 8: 71,933,561 (GRCm39) R577L unknown Het
Arhgef7 T A 8: 11,869,646 (GRCm39) S653R probably damaging Het
Atp10a G A 7: 58,469,418 (GRCm39) V1090I possibly damaging Het
Birc6 A G 17: 74,966,216 (GRCm39) M4048V probably benign Het
C3 G A 17: 57,530,950 (GRCm39) P384S probably damaging Het
Camkk1 A T 11: 72,928,757 (GRCm39) E432V probably damaging Het
Celsr3 T A 9: 108,726,032 (GRCm39) V3087D probably benign Het
Ckap4 A G 10: 84,363,543 (GRCm39) S507P probably damaging Het
Coq6 G A 12: 84,420,464 (GRCm39) M471I probably benign Het
Csmd2 C A 4: 128,171,004 (GRCm39) H332Q Het
Cxcr1 T A 1: 74,231,231 (GRCm39) N264Y probably damaging Het
Dchs2 C A 3: 83,036,032 (GRCm39) R260S possibly damaging Het
Elmod2 C A 8: 84,057,761 (GRCm39) A41S possibly damaging Het
Emilin2 G A 17: 71,581,781 (GRCm39) T315I probably benign Het
Eml1 A G 12: 108,482,842 (GRCm39) N487S probably benign Het
Epn1 G T 7: 5,096,369 (GRCm39) R221L probably benign Het
Faah A G 4: 115,874,772 (GRCm39) V28A probably benign Het
Fbl G A 7: 27,876,689 (GRCm39) R230H probably benign Het
Fsip2 C T 2: 82,805,907 (GRCm39) S742F probably damaging Het
Gm5460 A G 14: 33,767,769 (GRCm39) D184G possibly damaging Het
Gpatch2l T C 12: 86,307,408 (GRCm39) V262A probably damaging Het
Grin2c A T 11: 115,142,052 (GRCm39) L789* probably null Het
H1f0 C T 15: 78,912,947 (GRCm39) P9L probably damaging Het
Hectd4 A G 5: 121,460,864 (GRCm39) T948A probably benign Het
Herc2 G A 7: 55,780,932 (GRCm39) G1199D probably damaging Het
Hoxb7 G T 11: 96,177,617 (GRCm39) A22S possibly damaging Het
Ifih1 T A 2: 62,439,618 (GRCm39) I519F probably damaging Het
Ifit1bl1 T A 19: 34,571,498 (GRCm39) I320F possibly damaging Het
Iqgap2 T C 13: 95,774,261 (GRCm39) T1320A probably benign Het
Kat2a A G 11: 100,602,178 (GRCm39) V192A probably damaging Het
Kat6b A C 14: 21,672,077 (GRCm39) H329P probably damaging Het
Klhl29 A G 12: 5,260,056 (GRCm39) L54P probably benign Het
Kntc1 A T 5: 123,925,112 (GRCm39) I1142F possibly damaging Het
Lipo3 A G 19: 33,533,864 (GRCm39) Y323H probably damaging Het
Lmtk3 G A 7: 45,441,994 (GRCm39) V351I probably damaging Het
Lrrc8b T C 5: 105,633,888 (GRCm39) S787P probably benign Het
Magi1 A G 6: 93,660,058 (GRCm39) I1179T probably damaging Het
Mapk11 T C 15: 89,028,631 (GRCm39) D269G probably benign Het
Mfsd13a T G 19: 46,354,868 (GRCm39) I15R probably benign Het
Myo1h G A 5: 114,499,366 (GRCm39) V143I possibly damaging Het
Naaladl1 T C 19: 6,156,917 (GRCm39) I187T possibly damaging Het
Nos1 G A 5: 118,034,871 (GRCm39) V416M probably damaging Het
Or14a256 G A 7: 86,265,065 (GRCm39) R263C possibly damaging Het
Or14j8 A G 17: 38,263,559 (GRCm39) S119P probably damaging Het
Or8k30 T G 2: 86,338,914 (GRCm39) I37S probably benign Het
Pcdh15 A G 10: 74,460,170 (GRCm39) T1373A probably damaging Het
Pcdh18 T G 3: 49,699,667 (GRCm39) M932L probably damaging Het
Pcdhb15 T A 18: 37,608,683 (GRCm39) H638Q probably benign Het
Pcdhb19 A G 18: 37,630,628 (GRCm39) E141G possibly damaging Het
Pds5b T G 5: 150,693,256 (GRCm39) L656R probably damaging Het
Plcl1 T C 1: 55,445,587 (GRCm39) L14P probably benign Het
Pzp A T 6: 128,499,128 (GRCm39) I173N Het
Rnf123 C T 9: 107,937,008 (GRCm39) R849H probably damaging Het
Sfrp5 T C 19: 42,188,225 (GRCm39) D198G probably damaging Het
Sftpb G C 6: 72,283,843 (GRCm39) A147P probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc30a6 A G 17: 74,719,699 (GRCm39) T220A possibly damaging Het
Slc5a3 T A 16: 91,874,615 (GRCm39) V224D probably benign Het
Smad5 T A 13: 56,875,417 (GRCm39) Y202N probably benign Het
Smok2b A G 17: 13,453,881 (GRCm39) I14V probably damaging Het
Tas2r108 T A 6: 40,471,121 (GRCm39) I199K probably damaging Het
Tcea2 A G 2: 181,322,227 (GRCm39) I10V probably damaging Het
Tfg G A 16: 56,524,868 (GRCm39) R113* probably null Het
Ugt2b37 A G 5: 87,402,046 (GRCm39) V195A probably damaging Het
Umad1 A G 6: 8,401,096 (GRCm39) H55R unknown Het
Vmn1r176 A T 7: 23,534,743 (GRCm39) Y137N probably damaging Het
Vmn1r44 T A 6: 89,870,473 (GRCm39) M73K possibly damaging Het
Vmn2r112 A G 17: 22,821,233 (GRCm39) T69A Het
Vmn2r59 A T 7: 41,696,254 (GRCm39) Y163N probably damaging Het
Vps13c T A 9: 67,830,137 (GRCm39) D1514E probably benign Het
Vsir A G 10: 60,193,732 (GRCm39) D65G possibly damaging Het
Ypel3 A T 7: 126,379,262 (GRCm39) M112L probably benign Het
Zfp26 T A 9: 20,347,830 (GRCm39) K911N probably damaging Het
Zfp362 C T 4: 128,670,980 (GRCm39) R346Q probably damaging Het
Zfp595 A T 13: 67,465,407 (GRCm39) Y288* probably null Het
Zfyve28 G T 5: 34,400,633 (GRCm39) Q22K possibly damaging Het
Zswim4 T G 8: 84,963,539 (GRCm39) D32A 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
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
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'- TCTGAACATGGCGGTGAACTG -3'
(R):5'- TGAATATGGTGCCATTCCCC -3'

Sequencing Primer
(F):5'- TGAACTGCTCCGAGATGC -3'
(R):5'- TCATGCCAGGATTCGCAC -3'
Posted On 2022-05-16