Incidental Mutation 'IGL00555:Tbcel'
ID 332596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbcel
Ensembl Gene ENSMUSG00000037287
Gene Name tubulin folding cofactor E-like
Synonyms E130107N23Rik, Lrrc35
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # IGL00555
Quality Score
Status
Chromosome 9
Chromosomal Location 42323612-42383534 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 42354333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 165 (T165K)
Ref Sequence ENSEMBL: ENSMUSP00000116616 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066148] [ENSMUST00000066179] [ENSMUST00000125995] [ENSMUST00000128959] [ENSMUST00000138506]
AlphaFold Q8C5W3
Predicted Effect probably benign
Transcript: ENSMUST00000066148
AA Change: T165K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000067882
Gene: ENSMUSG00000037287
AA Change: T165K

DomainStartEndE-ValueType
internal_repeat_1 73 103 7.53e-6 PROSPERO
low complexity region 105 115 N/A INTRINSIC
low complexity region 147 160 N/A INTRINSIC
internal_repeat_1 173 203 7.53e-6 PROSPERO
Pfam:Ubiquitin_2 344 424 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066179
AA Change: T183K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000065125
Gene: ENSMUSG00000037287
AA Change: T183K

DomainStartEndE-ValueType
internal_repeat_1 91 121 9.76e-6 PROSPERO
low complexity region 123 133 N/A INTRINSIC
low complexity region 165 178 N/A INTRINSIC
internal_repeat_1 191 221 9.76e-6 PROSPERO
Pfam:Ubiquitin_2 362 442 1.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125995
AA Change: T165K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000114721
Gene: ENSMUSG00000037287
AA Change: T165K

DomainStartEndE-ValueType
internal_repeat_1 73 103 7.53e-6 PROSPERO
low complexity region 105 115 N/A INTRINSIC
low complexity region 147 160 N/A INTRINSIC
internal_repeat_1 173 203 7.53e-6 PROSPERO
Pfam:Ubiquitin_2 344 424 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128959
AA Change: T165K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000121164
Gene: ENSMUSG00000037287
AA Change: T165K

DomainStartEndE-ValueType
internal_repeat_1 73 103 7.53e-6 PROSPERO
low complexity region 105 115 N/A INTRINSIC
low complexity region 147 160 N/A INTRINSIC
internal_repeat_1 173 203 7.53e-6 PROSPERO
Pfam:Ubiquitin_2 344 424 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138506
AA Change: T165K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000116616
Gene: ENSMUSG00000037287
AA Change: T165K

DomainStartEndE-ValueType
internal_repeat_1 73 103 7.53e-6 PROSPERO
low complexity region 105 115 N/A INTRINSIC
low complexity region 147 160 N/A INTRINSIC
internal_repeat_1 173 203 7.53e-6 PROSPERO
Pfam:Ubiquitin_2 344 424 1.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196448
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A G 12: 21,378,110 (GRCm39) V692A probably damaging Het
Ankrd12 A G 17: 66,291,971 (GRCm39) V1154A probably benign Het
Asnsd1 T C 1: 53,385,787 (GRCm39) N529S probably damaging Het
C1ra T C 6: 124,499,250 (GRCm39) F479L probably benign Het
Cdh9 T C 15: 16,823,492 (GRCm39) F158S probably damaging Het
Etaa1 A T 11: 17,897,535 (GRCm39) M194K probably damaging Het
Flvcr2 A T 12: 85,794,097 (GRCm39) I158F possibly damaging Het
Mtss1 A G 15: 58,823,317 (GRCm39) probably null Het
Ngf A G 3: 102,427,788 (GRCm39) H179R probably damaging Het
Plbd2 A T 5: 120,623,875 (GRCm39) M549K possibly damaging Het
Shc3 A G 13: 51,615,379 (GRCm39) S193P probably damaging Het
Tat A G 8: 110,725,417 (GRCm39) T421A probably benign Het
Tesl2 A G X: 23,824,191 (GRCm39) I328T probably benign Het
Trim44 A G 2: 102,134,824 (GRCm39) *346R probably null Het
Uba6 A T 5: 86,267,266 (GRCm39) F921I possibly damaging Het
Other mutations in Tbcel
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Tbcel APN 9 42,355,817 (GRCm39) missense possibly damaging 0.79
IGL02223:Tbcel APN 9 42,363,014 (GRCm39) missense probably benign 0.14
IGL03336:Tbcel APN 9 42,350,427 (GRCm39) missense probably benign 0.17
R0346:Tbcel UTSW 9 42,348,539 (GRCm39) splice site probably benign
R0415:Tbcel UTSW 9 42,355,796 (GRCm39) missense probably benign 0.43
R0849:Tbcel UTSW 9 42,348,453 (GRCm39) missense probably damaging 1.00
R1203:Tbcel UTSW 9 42,362,947 (GRCm39) missense probably damaging 1.00
R1370:Tbcel UTSW 9 42,361,358 (GRCm39) missense probably damaging 1.00
R1617:Tbcel UTSW 9 42,372,589 (GRCm39) intron probably benign
R1995:Tbcel UTSW 9 42,362,957 (GRCm39) missense probably damaging 1.00
R3196:Tbcel UTSW 9 42,327,248 (GRCm39) missense probably damaging 0.99
R3618:Tbcel UTSW 9 42,372,591 (GRCm39) intron probably benign
R4681:Tbcel UTSW 9 42,361,268 (GRCm39) missense probably damaging 1.00
R5008:Tbcel UTSW 9 42,327,419 (GRCm39) missense probably damaging 1.00
R5497:Tbcel UTSW 9 42,363,041 (GRCm39) start codon destroyed possibly damaging 0.59
R5838:Tbcel UTSW 9 42,327,168 (GRCm39) missense probably damaging 0.98
R5976:Tbcel UTSW 9 42,350,499 (GRCm39) missense possibly damaging 0.95
R6993:Tbcel UTSW 9 42,327,413 (GRCm39) nonsense probably null
R8480:Tbcel UTSW 9 42,375,169 (GRCm39) splice site probably null
S24628:Tbcel UTSW 9 42,355,796 (GRCm39) missense probably benign 0.43
Posted On 2015-08-05