Incidental Mutation 'R7222:Tbce'
ID 561898
Institutional Source Beutler Lab
Gene Symbol Tbce
Ensembl Gene ENSMUSG00000039233
Gene Name tubulin-specific chaperone E
Synonyms 2610206D02Rik, C530005D02Rik
MMRRC Submission 045294-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7222 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 14172534-14214223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14172735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 505 (D505G)
Ref Sequence ENSEMBL: ENSMUSP00000047880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039894] [ENSMUST00000099747] [ENSMUST00000159893] [ENSMUST00000162326] [ENSMUST00000220681] [ENSMUST00000221300] [ENSMUST00000221974] [ENSMUST00000223483]
AlphaFold Q8CIV8
PDB Structure Solution structure of the C-terminal ubiquitin-like domain of mouse tubulin-specific chaperone e [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000039894
AA Change: D505G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233
AA Change: D505G

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 probably benign
Transcript: ENSMUST00000099747
SMART Domains Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Galactosyl_T 300 460 2.9e-26 PFAM
low complexity region 481 492 N/A INTRINSIC
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 probably benign
Transcript: ENSMUST00000162326
SMART Domains Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233

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 probably benign
Transcript: ENSMUST00000220681
Predicted Effect probably benign
Transcript: ENSMUST00000221300
Predicted Effect probably benign
Transcript: ENSMUST00000221974
Predicted Effect probably benign
Transcript: ENSMUST00000222420
Predicted Effect probably benign
Transcript: ENSMUST00000223483
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (49/50)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,082,519 (GRCm39) N1151K probably benign Het
Add3 T C 19: 53,205,277 (GRCm39) V9A unknown Het
Ankar A G 1: 72,705,514 (GRCm39) I832T probably damaging Het
Arhgef10l C A 4: 140,248,580 (GRCm39) W785L probably damaging Het
Atp7b G A 8: 22,512,394 (GRCm39) Q490* probably null Het
Chrna5 A G 9: 54,905,347 (GRCm39) D53G probably benign Het
Clip1 T A 5: 123,749,904 (GRCm39) N993I probably damaging Het
Cyp3a59 A T 5: 146,033,385 (GRCm39) probably null Het
Dnah3 T A 7: 119,670,746 (GRCm39) N651Y probably benign Het
Dop1a T C 9: 86,404,929 (GRCm39) probably null Het
Eva1c AGGGTGTCCTGTACGAAGGACTTCCGGG AGGG 16: 90,701,072 (GRCm39) probably benign Het
Flg T A 3: 93,195,621 (GRCm39) S74T unknown Het
Fras1 T C 5: 96,784,045 (GRCm39) Y850H probably damaging Het
Fras1 A T 5: 96,784,668 (GRCm39) T884S probably benign Het
Fsip2 A G 2: 82,814,015 (GRCm39) T3445A probably benign Het
Herc1 C A 9: 66,374,781 (GRCm39) P3237H probably damaging Het
Ifi35 A G 11: 101,348,341 (GRCm39) N123S probably benign Het
Igkv1-117 A T 6: 68,098,733 (GRCm39) D94V probably damaging Het
Kif1b T C 4: 149,309,614 (GRCm39) D764G probably damaging Het
Lztr1 A G 16: 17,341,996 (GRCm39) E657G possibly damaging Het
Mmd2 G T 5: 142,553,682 (GRCm39) L160I probably benign Het
Muc2 A T 7: 141,290,758 (GRCm39) T15S Het
Muc6 T A 7: 141,214,428 (GRCm39) H2835L unknown Het
Myo1h G A 5: 114,493,322 (GRCm39) probably null Het
Or10v5 C A 19: 11,806,021 (GRCm39) R123L probably damaging Het
Or51ag1 A G 7: 103,155,664 (GRCm39) V163A possibly damaging Het
Or52n4 T C 7: 104,293,937 (GRCm39) D214G probably damaging Het
Or5d43 T A 2: 88,104,809 (GRCm39) M195L probably benign Het
Or5p72 A G 7: 108,021,844 (GRCm39) D22G probably benign Het
Or6c219 A G 10: 129,781,758 (GRCm39) Y58H probably damaging Het
Or7g32 A T 9: 19,388,763 (GRCm39) V261E probably damaging Het
Osbpl7 A G 11: 96,951,364 (GRCm39) T684A probably damaging Het
P2ry14 T C 3: 59,022,803 (GRCm39) K219R probably benign Het
Pde4d A T 13: 109,894,113 (GRCm39) H156L probably damaging Het
Polq G T 16: 36,906,995 (GRCm39) E2319* probably null Het
Ranbp3 T G 17: 57,017,211 (GRCm39) V409G probably damaging Het
Sart3 T C 5: 113,884,717 (GRCm39) D629G probably benign Het
Selenon T A 4: 134,275,288 (GRCm39) T137S possibly damaging Het
Setd2 T A 9: 110,380,530 (GRCm39) D55E Het
Slamf8 G A 1: 172,411,775 (GRCm39) T240I possibly damaging Het
Slc39a10 A G 1: 46,858,452 (GRCm39) L615P possibly damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tenm3 C T 8: 48,754,004 (GRCm39) G800R probably damaging Het
Terf2ip T C 8: 112,738,547 (GRCm39) V145A possibly damaging Het
Tmprss7 T C 16: 45,511,256 (GRCm39) I41V probably benign Het
Traj49 A T 14: 54,406,160 (GRCm39) N6I Het
Trim30a T C 7: 104,070,639 (GRCm39) probably null Het
Ubr4 T A 4: 139,190,684 (GRCm39) S905T unknown Het
Unc93a2 A G 17: 7,643,866 (GRCm39) S148P probably damaging Het
Zfp948 T A 17: 21,808,102 (GRCm39) H431Q probably damaging Het
Zfyve1 A G 12: 83,601,779 (GRCm39) F525L probably benign 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
R6645:Tbce UTSW 13 14,179,814 (GRCm39) missense probably benign 0.04
R7062:Tbce UTSW 13 14,194,380 (GRCm39) missense possibly damaging 0.89
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'- TCACATAGTGAATGCAGTAAGGTG -3'
(R):5'- TCCTCTACAGTACTGTGAGCC -3'

Sequencing Primer
(F):5'- TAGTGAATGCAGTAAGGTGTGAAAAC -3'
(R):5'- GTACTGTGAGCCATACATAACAGGC -3'
Posted On 2019-06-26