Incidental Mutation 'IGL03336:Tbcel'
ID 417050
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: 0.151) question?
Stock # IGL03336
Quality Score
Status
Chromosome 9
Chromosomal Location 42323612-42383534 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 42350427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 269 (T269A)
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: T269A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000067882
Gene: ENSMUSG00000037287
AA Change: T269A

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: T287A

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000065125
Gene: ENSMUSG00000037287
AA Change: T287A

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: T269A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000114721
Gene: ENSMUSG00000037287
AA Change: T269A

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: T269A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121164
Gene: ENSMUSG00000037287
AA Change: T269A

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: T269A

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000116616
Gene: ENSMUSG00000037287
AA Change: T269A

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 59,888,251 (GRCm39) V63A probably benign Het
Ankrd11 A G 8: 123,618,582 (GRCm39) S1757P probably benign Het
Atp8a1 G T 5: 67,887,150 (GRCm39) Y629* probably null Het
Cenpf T C 1: 189,384,844 (GRCm39) K2479E probably damaging Het
Clip1 G T 5: 123,791,633 (GRCm39) S179* probably null Het
Cmya5 A G 13: 93,230,013 (GRCm39) S1692P possibly damaging Het
Cyp17a1 T C 19: 46,659,474 (GRCm39) S119G probably benign Het
Fndc5 T C 4: 129,033,711 (GRCm39) F160L probably benign Het
Muc5b T C 7: 141,418,100 (GRCm39) V3682A probably damaging Het
Myh8 G T 11: 67,175,528 (GRCm39) D328Y probably damaging Het
Or10a5 T A 7: 106,635,542 (GRCm39) M60K probably damaging Het
Or4c121 T C 2: 89,024,241 (GRCm39) T46A probably benign Het
Or51f1 C T 7: 102,505,823 (GRCm39) C222Y probably benign Het
Or51k2 T C 7: 103,596,616 (GRCm39) L281P probably damaging Het
Or6c203 T C 10: 129,010,098 (GRCm39) E264G probably benign Het
Paxbp1 T C 16: 90,831,060 (GRCm39) I439V probably benign Het
Pcdhb3 T C 18: 37,436,014 (GRCm39) V660A possibly damaging Het
Pcyt2 T C 11: 120,506,758 (GRCm39) D32G probably damaging Het
Pdzph1 A T 17: 59,281,229 (GRCm39) V351D probably benign Het
Ribc2 C T 15: 85,017,114 (GRCm39) Q51* probably null Het
Scn2a A G 2: 65,519,088 (GRCm39) E438G probably damaging Het
Slc18a3 T C 14: 32,184,785 (GRCm39) probably benign Het
Slc5a1 G A 5: 33,304,287 (GRCm39) V296I probably benign Het
Slit3 A T 11: 35,560,928 (GRCm39) T958S probably damaging Het
Spag8 C T 4: 43,652,114 (GRCm39) probably benign Het
Susd3 A C 13: 49,392,258 (GRCm39) S144R probably benign Het
Synpo2 T C 3: 122,907,828 (GRCm39) E496G possibly damaging Het
Tmem156 A G 5: 65,233,107 (GRCm39) Y152H probably benign Het
Tmem247 A G 17: 87,225,857 (GRCm39) E99G probably damaging Het
Tuba3b A G 6: 145,565,450 (GRCm39) D306G possibly damaging Het
Vps13c T A 9: 67,858,924 (GRCm39) D2791E possibly damaging Het
Ypel4 A G 2: 84,567,871 (GRCm39) Y98C probably damaging Het
Other mutations in Tbcel
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00555:Tbcel APN 9 42,354,333 (GRCm39) missense probably benign 0.03
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
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 2016-08-02