Incidental Mutation 'R8320:Tubb3'
ID 641914
Institutional Source Beutler Lab
Gene Symbol Tubb3
Ensembl Gene ENSMUSG00000062380
Gene Name tubulin, beta 3 class III
Synonyms 3200002H15Rik, betaIII-tubulin, Tuj1
MMRRC Submission 067722-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8320 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 124138292-124148754 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124147594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 176 (S176P)
Ref Sequence ENSEMBL: ENSMUSP00000071134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071134] [ENSMUST00000127664] [ENSMUST00000212743] [ENSMUST00000212883]
AlphaFold Q9ERD7
Predicted Effect possibly damaging
Transcript: ENSMUST00000071134
AA Change: S176P

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000071134
Gene: ENSMUSG00000062380
AA Change: S176P

DomainStartEndE-ValueType
Tubulin 47 244 8.63e-65 SMART
Tubulin_C 246 383 1.35e-48 SMART
low complexity region 427 446 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000212743
Predicted Effect probably benign
Transcript: ENSMUST00000212883
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit neonatal lethality associated with respiratory distress, abnormal corpus callosum morphology, abnormal cranial nerves, and defective axon guidance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asb10 A G 5: 24,742,626 (GRCm39) probably null Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Clec3a T C 8: 115,152,369 (GRCm39) V125A probably benign Het
Clspn A G 4: 126,457,743 (GRCm39) D258G possibly damaging Het
Cnn3 T G 3: 121,243,635 (GRCm39) L32R probably damaging Het
Cntnap5a T C 1: 116,374,466 (GRCm39) F993L possibly damaging Het
Cobl A G 11: 12,217,001 (GRCm39) S496P probably damaging Het
Dmxl2 A G 9: 54,291,043 (GRCm39) V2469A probably benign Het
Egfr T C 11: 16,841,251 (GRCm39) F714S probably damaging Het
Erap1 G C 13: 74,814,668 (GRCm39) E465Q probably benign Het
Ercc6 T C 14: 32,242,972 (GRCm39) V204A probably benign Het
Fbln2 C T 6: 91,234,749 (GRCm39) T689I possibly damaging Het
Fbxw13 G T 9: 109,012,134 (GRCm39) T311K probably benign Het
Foxj2 T A 6: 122,810,649 (GRCm39) S210T probably benign Het
Gnl1 A G 17: 36,293,490 (GRCm39) N225S probably damaging Het
Grid2 T C 6: 63,233,917 (GRCm39) I26T probably benign Het
Gzmd A G 14: 56,367,190 (GRCm39) I234T probably benign Het
Igkv2-137 GA GAA 6: 67,533,154 (GRCm39) probably null Het
Kif26b T C 1: 178,711,641 (GRCm39) probably null Het
Klk1b1 C T 7: 43,619,767 (GRCm39) R109C possibly damaging Het
Klra10 A G 6: 130,246,211 (GRCm39) C255R probably damaging Het
Lgi4 T C 7: 30,768,366 (GRCm39) V455A probably benign Het
Mucl3 T C 17: 35,954,530 (GRCm39) T11A probably benign Het
Neb C A 2: 52,186,343 (GRCm39) V910L probably benign Het
Pigg G A 5: 108,495,717 (GRCm39) R918H probably benign Het
Poln A G 5: 34,307,171 (GRCm39) V10A possibly damaging Het
Polr1a T A 6: 71,918,368 (GRCm39) M642K probably damaging Het
Rasal1 C T 5: 120,804,420 (GRCm39) R431C probably benign Het
Rfc1 A T 5: 65,460,379 (GRCm39) Y167* probably null Het
Rnf17 TG T 14: 56,661,999 (GRCm39) 132 probably null Het
Sars2 C T 7: 28,446,293 (GRCm39) T174I probably damaging Het
Septin4 T C 11: 87,480,560 (GRCm39) V398A possibly damaging Het
Slc6a2 C T 8: 93,719,476 (GRCm39) T397I probably benign Het
Smarca4 G T 9: 21,588,798 (GRCm39) R1200L probably benign Het
Stx7 G T 10: 24,055,046 (GRCm39) A63S probably damaging Het
Sval3 G A 6: 41,949,458 (GRCm39) V99I probably benign Het
Syna A G 5: 134,588,574 (GRCm39) I125T possibly damaging Het
Syne2 T C 12: 76,150,604 (GRCm39) S1827P probably damaging Het
Taf4b T C 18: 14,916,749 (GRCm39) V33A possibly damaging Het
Tpcn2 C T 7: 144,820,359 (GRCm39) R373H possibly damaging Het
Trpm1 A G 7: 63,918,541 (GRCm39) D1511G possibly damaging Het
Ttc3 C A 16: 94,219,535 (GRCm39) R487S probably damaging Het
Zfp189 C G 4: 49,530,180 (GRCm39) Q428E probably benign Het
Zscan4d C T 7: 10,799,942 (GRCm39) V316M probably benign Het
Other mutations in Tubb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01534:Tubb3 APN 8 124,147,705 (GRCm39) missense probably benign 0.20
IGL02208:Tubb3 APN 8 124,147,603 (GRCm39) missense probably damaging 1.00
IGL02253:Tubb3 APN 8 124,147,559 (GRCm39) missense probably benign 0.17
IGL02669:Tubb3 APN 8 124,147,856 (GRCm39) missense probably damaging 0.98
F5770:Tubb3 UTSW 8 124,138,414 (GRCm39) splice site probably benign
PIT4810001:Tubb3 UTSW 8 124,148,396 (GRCm39) missense possibly damaging 0.72
R1164:Tubb3 UTSW 8 124,148,186 (GRCm39) missense probably damaging 1.00
R2074:Tubb3 UTSW 8 124,148,009 (GRCm39) missense probably damaging 1.00
R2075:Tubb3 UTSW 8 124,148,009 (GRCm39) missense probably damaging 1.00
R2091:Tubb3 UTSW 8 124,148,417 (GRCm39) splice site probably null
R3012:Tubb3 UTSW 8 124,147,975 (GRCm39) missense probably damaging 1.00
R3913:Tubb3 UTSW 8 124,147,748 (GRCm39) missense possibly damaging 0.94
R3951:Tubb3 UTSW 8 124,148,003 (GRCm39) missense probably damaging 0.99
R4609:Tubb3 UTSW 8 124,147,658 (GRCm39) missense probably damaging 1.00
R5054:Tubb3 UTSW 8 124,147,607 (GRCm39) missense probably damaging 0.99
R5256:Tubb3 UTSW 8 124,148,391 (GRCm39) missense probably benign
R5690:Tubb3 UTSW 8 124,148,045 (GRCm39) missense probably benign 0.14
R7638:Tubb3 UTSW 8 124,147,900 (GRCm39) missense probably benign 0.04
R8263:Tubb3 UTSW 8 124,147,868 (GRCm39) missense possibly damaging 0.90
R8503:Tubb3 UTSW 8 124,147,768 (GRCm39) missense probably damaging 0.99
R9030:Tubb3 UTSW 8 124,145,696 (GRCm39) missense probably damaging 1.00
Z1088:Tubb3 UTSW 8 124,148,273 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTCAGTCCTAGATGTCGTGC -3'
(R):5'- TTGAGCTGACCAGGGAATCG -3'

Sequencing Primer
(F):5'- TCCTAGATGTCGTGCGGAAAG -3'
(R):5'- TCGAAGGGAGGTGGTGACTC -3'
Posted On 2020-07-28