Incidental Mutation 'IGL03142:Tbce'
ID 410735
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbce
Ensembl Gene ENSMUSG00000039233
Gene Name tubulin-specific chaperone E
Synonyms 2610206D02Rik, C530005D02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03142
Quality Score
Status
Chromosome 13
Chromosomal Location 14172534-14214223 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14194449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 70 (V70A)
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 possibly damaging
Transcript: ENSMUST00000039894
AA Change: V70A

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047880
Gene: ENSMUSG00000039233
AA Change: V70A

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 unknown
Transcript: ENSMUST00000159893
AA Change: F42L
SMART Domains Protein: ENSMUSP00000125244
Gene: ENSMUSG00000039233
AA Change: F42L

DomainStartEndE-ValueType
SCOP:d1lpla_ 9 35 3e-5 SMART
Blast:CAP_GLY 10 34 2e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160304
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160776
Predicted Effect possibly damaging
Transcript: ENSMUST00000162326
AA Change: V70A

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125613
Gene: ENSMUSG00000039233
AA Change: V70A

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
Coding Region Coverage
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,913,457 (GRCm39) S523G probably damaging Het
Ccnb1 A T 13: 100,920,039 (GRCm39) D157E probably damaging Het
Cep43 T A 17: 8,411,041 (GRCm39) S331R probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Frmpd4 T A X: 166,262,479 (GRCm39) D550V possibly damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Has2 A T 15: 56,545,491 (GRCm39) I37N possibly damaging Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Klhl29 T A 12: 5,187,603 (GRCm39) N254Y probably damaging Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mgat5 A C 1: 127,339,960 (GRCm39) Q447P probably damaging Het
Mlh3 C A 12: 85,297,075 (GRCm39) probably null Het
Mrpl45 T C 11: 97,206,751 (GRCm39) W18R probably benign Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Mylk4 A T 13: 32,904,582 (GRCm39) V415E probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Or4d11 A T 19: 12,013,752 (GRCm39) M118K probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pkn1 A G 8: 84,397,652 (GRCm39) F824L possibly damaging Het
Pspn C T 17: 57,306,566 (GRCm39) R121Q probably benign Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G possibly damaging 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
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
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
Posted On 2016-08-02