Incidental Mutation 'R6645:Tbce'
ID 526086
Institutional Source Beutler Lab
Gene Symbol Tbce
Ensembl Gene ENSMUSG00000039233
Gene Name tubulin-specific chaperone E
Synonyms 2610206D02Rik, C530005D02Rik
MMRRC Submission 044766-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6645 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 14172534-14214223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14179814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 341 (T341A)
Ref Sequence ENSEMBL: ENSMUSP00000047880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039894] [ENSMUST00000159893] [ENSMUST00000162326]
AlphaFold Q8CIV8
PDB Structure Solution structure of the C-terminal ubiquitin-like domain of mouse tubulin-specific chaperone e [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000039894
AA Change: T341A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233
AA Change: T341A

DomainStartEndE-ValueType
CAP_GLY 10 76 5.23e-32 SMART
SCOP:d1fqva2 117 345 4e-20 SMART
low complexity region 347 360 N/A INTRINSIC
Pfam:Ubiquitin_2 442 523 1.1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159427
Predicted Effect probably benign
Transcript: ENSMUST00000159893
SMART Domains Protein: ENSMUSP00000125244
Gene: ENSMUSG00000039233

DomainStartEndE-ValueType
SCOP:d1lpla_ 9 35 3e-5 SMART
Blast:CAP_GLY 10 34 2e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160553
Predicted Effect probably benign
Transcript: ENSMUST00000162326
AA Change: T341A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233
AA Change: T341A

DomainStartEndE-ValueType
CAP_GLY 10 76 5.23e-32 SMART
SCOP:d1fqva2 117 345 4e-21 SMART
low complexity region 347 360 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162440
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162241
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a tubulin binding cofactor that participates in microtubule dynamics. A mouse model of progressive motor neuropathy (pmn) was discovered to harbor a single amino acid deletion in this gene. Mice that are homozygous for pmn allele exhibit progressive atrophy and premature death due to respiratory failure. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit progressive caudal-cranial motor neuron degeneration, beginning around 3 weeks and culminating in death due to respiratory paralysis by 7 weeks. The sciatic and phrenic nerves are especially affected. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anp32e T A 3: 95,844,414 (GRCm39) F95I probably damaging Het
Arap1 A G 7: 101,057,318 (GRCm39) K628R possibly damaging Het
Arid4b A T 13: 14,294,737 (GRCm39) E6D probably damaging Het
Atxn10 G T 15: 85,260,904 (GRCm39) probably null Het
Ccdc170 A G 10: 4,510,974 (GRCm39) I678V possibly damaging Het
Ccdc18 T A 5: 108,286,796 (GRCm39) V110D probably benign Het
Cep85l C T 10: 53,177,768 (GRCm39) E322K probably benign Het
Cilp A T 9: 65,186,587 (GRCm39) Y894F possibly damaging Het
Ddx4 A G 13: 112,777,708 (GRCm39) S62P possibly damaging Het
Dph7 T C 2: 24,855,663 (GRCm39) V154A probably benign Het
Ephb6 T C 6: 41,594,206 (GRCm39) S579P probably benign Het
Fam53a G T 5: 33,758,128 (GRCm39) Q332K probably benign Het
Fancm A G 12: 65,152,874 (GRCm39) D1110G probably damaging Het
Fh1 A T 1: 175,442,442 (GRCm39) V136E possibly damaging Het
Greb1 G T 12: 16,748,580 (GRCm39) H1132Q probably benign Het
Jph1 A G 1: 17,161,985 (GRCm39) S226P probably damaging Het
Kbtbd8 C T 6: 95,103,730 (GRCm39) R460* probably null Het
Lama5 T A 2: 179,821,463 (GRCm39) N3059Y probably damaging Het
Lipc G A 9: 70,711,030 (GRCm39) T289I probably damaging Het
Lrrc2 T C 9: 110,799,175 (GRCm39) W241R probably damaging Het
Mfn2 T A 4: 147,979,069 (GRCm39) I88F probably damaging Het
Mms19 G C 19: 41,943,630 (GRCm39) N366K probably benign Het
Myo15a A G 11: 60,368,118 (GRCm39) T293A probably benign Het
Ndfip2 T A 14: 105,529,707 (GRCm39) Y179N probably damaging Het
Notch4 A G 17: 34,806,790 (GRCm39) D1909G probably benign Het
Obscn C T 11: 58,976,088 (GRCm39) S2013N probably damaging Het
Oca2 G T 7: 55,964,522 (GRCm39) A357S probably benign Het
Or8b43 T C 9: 38,360,219 (GRCm39) L17S probably damaging Het
Or8g35 T A 9: 39,381,562 (GRCm39) L153F probably benign Het
Pde7b C A 10: 20,486,312 (GRCm39) probably null Het
Ppef2 T C 5: 92,378,320 (GRCm39) N625S probably benign Het
Prom1 A T 5: 44,204,856 (GRCm39) L192Q probably damaging Het
Satb2 T C 1: 56,836,166 (GRCm39) I542V possibly damaging Het
Sgpp2 C T 1: 78,336,799 (GRCm39) T59M probably damaging Het
Skint6 T C 4: 112,749,235 (GRCm39) T782A possibly damaging Het
Slc13a4 G T 6: 35,245,774 (GRCm39) Q624K probably benign Het
Slc9a3 T A 13: 74,312,291 (GRCm39) H629Q probably damaging Het
Slitrk3 G T 3: 72,957,194 (GRCm39) A526E probably benign Het
Spata31e2 T A 1: 26,722,198 (GRCm39) D994V probably benign Het
Sptssa T C 12: 54,693,275 (GRCm39) Y53C probably damaging Het
Srsf10 T C 4: 135,590,874 (GRCm39) S159P possibly damaging Het
Tdrd6 A G 17: 43,935,423 (GRCm39) L1875P probably benign Het
Tkt G A 14: 30,292,168 (GRCm39) G425R probably damaging Het
Tmprss7 T C 16: 45,511,326 (GRCm39) I17M possibly damaging Het
Ttc21b T C 2: 66,066,721 (GRCm39) S311G probably benign Het
Ubr5 A G 15: 38,029,750 (GRCm39) Y492H probably damaging Het
Ush2a T C 1: 188,255,528 (GRCm39) I1535T probably damaging Het
Vmn2r17 A T 5: 109,576,247 (GRCm39) N373Y probably damaging Het
Vmn2r6 A T 3: 64,464,297 (GRCm39) V179E probably damaging Het
Vps13b A G 15: 35,910,451 (GRCm39) E3405G probably benign Het
Wac A T 18: 7,973,523 (GRCm39) Q212H probably damaging Het
Washc4 C T 10: 83,408,059 (GRCm39) R555* probably null Het
Zmat4 G A 8: 24,287,417 (GRCm39) probably null Het
Other mutations in Tbce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01291:Tbce APN 13 14,184,325 (GRCm39) splice site probably benign
IGL01405:Tbce APN 13 14,178,280 (GRCm39) missense probably damaging 1.00
IGL03142:Tbce APN 13 14,194,449 (GRCm39) missense possibly damaging 0.90
R0362:Tbce UTSW 13 14,172,747 (GRCm39) missense probably benign 0.12
R1736:Tbce UTSW 13 14,184,227 (GRCm39) missense possibly damaging 0.64
R1845:Tbce UTSW 13 14,194,294 (GRCm39) missense probably benign 0.22
R4445:Tbce UTSW 13 14,172,980 (GRCm39) missense possibly damaging 0.82
R4803:Tbce UTSW 13 14,194,446 (GRCm39) missense probably damaging 1.00
R4860:Tbce UTSW 13 14,194,380 (GRCm39) missense probably damaging 0.97
R4860:Tbce UTSW 13 14,194,380 (GRCm39) missense probably damaging 0.97
R4862:Tbce UTSW 13 14,173,004 (GRCm39) missense possibly damaging 0.94
R5096:Tbce UTSW 13 14,203,990 (GRCm39) splice site probably benign
R5391:Tbce UTSW 13 14,180,550 (GRCm39) missense probably damaging 0.99
R6050:Tbce UTSW 13 14,173,019 (GRCm39) missense possibly damaging 0.82
R6179:Tbce UTSW 13 14,194,362 (GRCm39) missense probably benign
R7062:Tbce UTSW 13 14,194,380 (GRCm39) missense possibly damaging 0.89
R7222:Tbce UTSW 13 14,172,735 (GRCm39) missense probably damaging 1.00
R7572:Tbce UTSW 13 14,185,172 (GRCm39) missense probably benign
R7587:Tbce UTSW 13 14,194,327 (GRCm39) missense probably damaging 1.00
R7726:Tbce UTSW 13 14,203,875 (GRCm39) missense probably damaging 1.00
R7747:Tbce UTSW 13 14,181,063 (GRCm39) missense possibly damaging 0.93
R8846:Tbce UTSW 13 14,194,285 (GRCm39) critical splice donor site probably null
R9185:Tbce UTSW 13 14,173,027 (GRCm39) missense probably damaging 1.00
R9299:Tbce UTSW 13 14,194,398 (GRCm39) missense probably benign 0.00
R9337:Tbce UTSW 13 14,194,398 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAATGCTCCTGTTCGCCAC -3'
(R):5'- AGTCCTTCCAGGTAGGGTTG -3'

Sequencing Primer
(F):5'- AGGGCATTGGATCCCATTAC -3'
(R):5'- GGTTGGTATATGATGTATCTTACACC -3'
Posted On 2018-06-22