Incidental Mutation 'IGL02653:Tbc1d7'
ID302229
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d7
Ensembl Gene ENSMUSG00000021368
Gene NameTBC1 domain family, member 7
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.714) question?
Stock #IGL02653
Quality Score
Status
Chromosome13
Chromosomal Location43151740-43171501 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43165398 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 88 (I88V)
Ref Sequence ENSEMBL: ENSMUSP00000152208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021797] [ENSMUST00000179852] [ENSMUST00000220787] [ENSMUST00000221352] [ENSMUST00000221795] [ENSMUST00000222160] [ENSMUST00000223000]
Predicted Effect probably benign
Transcript: ENSMUST00000021797
AA Change: I88V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021797
Gene: ENSMUSG00000021368
AA Change: I88V

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: I88V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137280
Gene: ENSMUSG00000021368
AA Change: I88V

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: I88V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: I88V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 46,115,767 probably benign Het
Alox5 T A 6: 116,415,477 H361L probably benign Het
Arid2 A G 15: 96,287,702 N3S probably damaging Het
Atp1a4 T A 1: 172,251,406 I182F possibly damaging Het
Ctnna2 A T 6: 76,980,777 D496E probably benign Het
Cyp3a25 G T 5: 146,003,110 S29Y possibly damaging Het
Dglucy G A 12: 100,871,431 G611D probably benign Het
Efcab5 T C 11: 77,132,022 K622E probably damaging Het
Esyt1 T A 10: 128,511,008 I1071L probably benign Het
Fbn2 T C 18: 58,076,705 K1035E probably benign Het
Frem1 T G 4: 82,959,334 E1335D probably benign Het
Gm5900 A G 7: 104,950,133 noncoding transcript Het
Ikbke T A 1: 131,271,835 Q283L possibly damaging Het
Lepr A T 4: 101,764,944 I358F probably benign Het
Lnpk A G 2: 74,548,048 V123A probably damaging Het
Mis12 A G 11: 71,025,531 K130R probably damaging Het
Ncapg2 T A 12: 116,425,906 probably null Het
Npy6r T C 18: 44,276,627 *372Q probably null Het
Polr3d T C 14: 70,440,117 D273G probably damaging Het
Ppp2r3a A G 9: 101,211,693 V477A probably benign Het
Prpf19 T A 19: 10,902,964 probably benign Het
Pwwp2a A G 11: 43,706,035 T676A possibly damaging Het
Ralgapb T A 2: 158,443,309 I242N probably damaging Het
Scn3a A T 2: 65,461,187 S1738R probably damaging Het
Snapc1 C A 12: 73,982,487 P348Q probably benign Het
Spert T C 14: 75,583,157 D385G probably damaging Het
Tnks2 T C 19: 36,872,451 S220P probably damaging Het
Trim56 A T 5: 137,112,906 S585R probably damaging Het
Trpm2 T G 10: 77,912,669 E1389A probably benign Het
Tspear T A 10: 77,706,965 probably benign Het
Vmn1r180 T C 7: 23,953,075 I221T probably damaging Het
Vmn1r204 A C 13: 22,556,630 I144L probably benign Het
Vmn2r20 A T 6: 123,385,365 I820N probably damaging Het
Vwa3b T A 1: 37,175,565 probably benign Het
Wnt1 G A 15: 98,792,455 G222R probably damaging Het
Zadh2 T C 18: 84,095,318 V373A possibly damaging Het
Other mutations in Tbc1d7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Tbc1d7 APN 13 43159321 missense probably damaging 1.00
IGL01460:Tbc1d7 APN 13 43165359 missense probably benign 0.00
IGL03046:Tbc1d7 APN 13 43154686 splice site probably null
R0165:Tbc1d7 UTSW 13 43153202 splice site probably null
R0427:Tbc1d7 UTSW 13 43153087 missense probably benign 0.01
R0863:Tbc1d7 UTSW 13 43154685 splice site probably benign
R0930:Tbc1d7 UTSW 13 43165336 nonsense probably null
R1181:Tbc1d7 UTSW 13 43153139 missense probably damaging 1.00
R1792:Tbc1d7 UTSW 13 43165377 missense probably benign
R2113:Tbc1d7 UTSW 13 43153086 missense probably damaging 0.99
R4354:Tbc1d7 UTSW 13 43169868 missense probably damaging 1.00
R4743:Tbc1d7 UTSW 13 43169849 missense probably damaging 1.00
R5407:Tbc1d7 UTSW 13 43154702 missense probably benign 0.01
R6049:Tbc1d7 UTSW 13 43159360 missense probably damaging 0.99
R6320:Tbc1d7 UTSW 13 43152933 unclassified probably benign
R7024:Tbc1d7 UTSW 13 43154735 missense probably damaging 1.00
R7241:Tbc1d7 UTSW 13 43153017 missense probably benign 0.17
Posted On2015-04-16