Incidental Mutation 'IGL01460:Tbc1d7'
ID 87959
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d7
Ensembl Gene ENSMUSG00000021368
Gene Name TBC1 domain family, member 7
Synonyms 2610009C09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # IGL01460
Quality Score
Status
Chromosome 13
Chromosomal Location 43305216-43324977 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 43318835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 101 (A101T)
Ref Sequence ENSEMBL: ENSMUSP00000152208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021797] [ENSMUST00000179852] [ENSMUST00000220787] [ENSMUST00000221352] [ENSMUST00000221795] [ENSMUST00000222160] [ENSMUST00000223000]
AlphaFold Q9D0K0
Predicted Effect probably benign
Transcript: ENSMUST00000021797
AA Change: A101T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021797
Gene: ENSMUSG00000021368
AA Change: A101T

DomainStartEndE-ValueType
SCOP:d1fkma1 24 90 5e-3 SMART
Pfam:RabGAP-TBC 133 251 2.6e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179852
AA Change: A101T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137280
Gene: ENSMUSG00000021368
AA Change: A101T

DomainStartEndE-ValueType
SCOP:d1fkma1 24 90 5e-3 SMART
Pfam:RabGAP-TBC 133 251 5.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220787
AA Change: A101T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221095
Predicted Effect probably benign
Transcript: ENSMUST00000221352
Predicted Effect probably benign
Transcript: ENSMUST00000221795
Predicted Effect probably benign
Transcript: ENSMUST00000222160
AA Change: A101T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000223000
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T C 7: 75,397,594 (GRCm39) V2608A probably benign Het
Cntrl A G 2: 35,055,856 (GRCm39) K1250R probably benign Het
Ctsm T C 13: 61,686,850 (GRCm39) Q14R probably damaging Het
Dnah7b A G 1: 46,178,864 (GRCm39) N846D possibly damaging Het
Erbb2 C T 11: 98,325,365 (GRCm39) R898C probably damaging Het
Itgb3 C T 11: 104,553,220 (GRCm39) Q693* probably null Het
Kcnk18 G A 19: 59,208,289 (GRCm39) V42M probably damaging Het
Kng1 A G 16: 22,897,944 (GRCm39) H448R probably benign Het
Mtf2 C T 5: 108,228,809 (GRCm39) P42S probably damaging Het
Myo10 A T 15: 25,714,194 (GRCm39) E120V probably benign Het
Or12k5 A C 2: 36,894,648 (GRCm39) M326R probably benign Het
Or9a2 A C 6: 41,749,216 (GRCm39) S6A probably benign Het
Peli1 C T 11: 21,096,966 (GRCm39) P119S probably benign Het
Pelp1 A G 11: 70,284,790 (GRCm39) V1026A unknown Het
Pi4ka A G 16: 17,175,515 (GRCm39) F438L probably damaging Het
Postn A G 3: 54,282,579 (GRCm39) probably benign Het
Taf1b T C 12: 24,608,245 (GRCm39) L548P possibly damaging Het
Vcp C A 4: 42,996,040 (GRCm39) R53L possibly damaging Het
Other mutations in Tbc1d7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Tbc1d7 APN 13 43,312,797 (GRCm39) missense probably damaging 1.00
IGL02653:Tbc1d7 APN 13 43,318,874 (GRCm39) missense probably benign
IGL03046:Tbc1d7 APN 13 43,308,162 (GRCm39) splice site probably null
R0165:Tbc1d7 UTSW 13 43,306,678 (GRCm39) splice site probably null
R0427:Tbc1d7 UTSW 13 43,306,563 (GRCm39) missense probably benign 0.01
R0863:Tbc1d7 UTSW 13 43,308,161 (GRCm39) splice site probably benign
R0930:Tbc1d7 UTSW 13 43,318,812 (GRCm39) nonsense probably null
R1181:Tbc1d7 UTSW 13 43,306,615 (GRCm39) missense probably damaging 1.00
R1792:Tbc1d7 UTSW 13 43,318,853 (GRCm39) missense probably benign
R2113:Tbc1d7 UTSW 13 43,306,562 (GRCm39) missense probably damaging 0.99
R4354:Tbc1d7 UTSW 13 43,323,344 (GRCm39) missense probably damaging 1.00
R4743:Tbc1d7 UTSW 13 43,323,325 (GRCm39) missense probably damaging 1.00
R5407:Tbc1d7 UTSW 13 43,308,178 (GRCm39) missense probably benign 0.01
R6049:Tbc1d7 UTSW 13 43,312,836 (GRCm39) missense probably damaging 0.99
R6320:Tbc1d7 UTSW 13 43,306,409 (GRCm39) unclassified probably benign
R7024:Tbc1d7 UTSW 13 43,308,211 (GRCm39) missense probably damaging 1.00
R7241:Tbc1d7 UTSW 13 43,306,493 (GRCm39) missense probably benign 0.17
R8263:Tbc1d7 UTSW 13 43,323,340 (GRCm39) missense possibly damaging 0.86
R9013:Tbc1d7 UTSW 13 43,322,310 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-18