Incidental Mutation 'R0863:Tbc1d7'
ID 82214
Institutional Source Beutler Lab
Gene Symbol Tbc1d7
Ensembl Gene ENSMUSG00000021368
Gene Name TBC1 domain family, member 7
Synonyms 2610009C09Rik
MMRRC Submission 039037-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # R0863 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 43305216-43324977 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 43308161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021797] [ENSMUST00000179852] [ENSMUST00000220787] [ENSMUST00000221352] [ENSMUST00000221795] [ENSMUST00000222160] [ENSMUST00000223000]
AlphaFold Q9D0K0
Predicted Effect probably benign
Transcript: ENSMUST00000021797
SMART Domains Protein: ENSMUSP00000021797
Gene: ENSMUSG00000021368

DomainStartEndE-ValueType
SCOP:d1fkma1 24 90 5e-3 SMART
Pfam:RabGAP-TBC 133 251 2.6e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179852
SMART Domains Protein: ENSMUSP00000137280
Gene: ENSMUSG00000021368

DomainStartEndE-ValueType
SCOP:d1fkma1 24 90 5e-3 SMART
Pfam:RabGAP-TBC 133 251 5.5e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220579
Predicted Effect probably benign
Transcript: ENSMUST00000220787
Predicted Effect probably benign
Transcript: ENSMUST00000221352
Predicted Effect probably benign
Transcript: ENSMUST00000221795
Predicted Effect probably benign
Transcript: ENSMUST00000222160
Predicted Effect probably benign
Transcript: ENSMUST00000223000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223076
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 94% (59/63)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310016G11Rik A G 7: 44,327,232 (GRCm39) noncoding transcript Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abca14 A T 7: 119,815,453 (GRCm39) T234S probably benign Het
Acap1 C A 11: 69,777,882 (GRCm39) V119L probably damaging Het
Actr2 C T 11: 20,030,760 (GRCm39) V163I probably benign Het
Adcy4 T C 14: 56,021,056 (GRCm39) Y27C probably damaging Het
Arnt2 T A 7: 83,914,792 (GRCm39) K524M probably damaging Het
Brca1 T C 11: 101,415,596 (GRCm39) Y846C probably benign Het
Capn7 T A 14: 31,091,714 (GRCm39) C704S possibly damaging Het
Cep350 T A 1: 155,737,981 (GRCm39) I2621L probably benign Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
Cul9 T C 17: 46,848,748 (GRCm39) probably null Het
Erc2 A C 14: 27,747,105 (GRCm39) N345T probably benign Het
Fank1 A G 7: 133,482,352 (GRCm39) R73G possibly damaging Het
Fes A T 7: 80,030,634 (GRCm39) W552R probably damaging Het
Fsd2 A G 7: 81,191,913 (GRCm39) V488A possibly damaging Het
Gfm1 T C 3: 67,381,928 (GRCm39) S705P probably damaging Het
Gm9493 A T 19: 23,597,173 (GRCm39) Q23L probably benign Het
Gucy1b2 T C 14: 62,656,511 (GRCm39) D282G probably benign Het
H2-Ab1 T C 17: 34,486,328 (GRCm39) I129T probably damaging Het
H2-M10.3 T A 17: 36,677,582 (GRCm39) Y232F probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Lonp1 T C 17: 56,925,331 (GRCm39) K487R probably damaging Het
Ltbp1 A G 17: 75,559,381 (GRCm39) Y290C probably damaging Het
Ms4a10 C T 19: 10,945,957 (GRCm39) G58D probably damaging Het
Muc5b A G 7: 141,421,454 (GRCm39) S4315G probably benign Het
Nlrp1b T A 11: 71,072,173 (GRCm39) T557S probably benign Het
Nlrp3 A G 11: 59,456,676 (GRCm39) D946G probably benign Het
Obscn T C 11: 58,886,241 (GRCm39) probably benign Het
Oga C T 19: 45,771,425 (GRCm39) A49T probably benign Het
Or10ab5 A G 7: 108,244,865 (GRCm39) I306T probably benign Het
Or5p50 T C 7: 107,422,581 (GRCm39) S32G probably benign Het
Or7e173 A T 9: 19,938,509 (GRCm39) S242T probably damaging Het
Pask A T 1: 93,242,061 (GRCm39) F1219I probably damaging Het
Pcdhb2 G A 18: 37,428,710 (GRCm39) V228I possibly damaging Het
Phf1 T C 17: 27,156,114 (GRCm39) probably benign Het
Plec G A 15: 76,058,280 (GRCm39) Q3751* probably null Het
Plscr1l1 A T 9: 92,233,140 (GRCm39) I88L possibly damaging Het
Ppp1r12c G T 7: 4,489,365 (GRCm39) Q240K probably damaging Het
Ralgapa1 A T 12: 55,809,466 (GRCm39) Y436* probably null Het
Ralgapa1 C A 12: 55,829,562 (GRCm39) probably benign Het
Scel T A 14: 103,823,916 (GRCm39) S381R possibly damaging Het
Sema4a C T 3: 88,355,456 (GRCm39) probably benign Het
Sltm A G 9: 70,469,190 (GRCm39) T150A probably benign Het
Spag1 G T 15: 36,192,193 (GRCm39) K217N probably damaging Het
Ssh1 C T 5: 114,104,792 (GRCm39) R9H probably damaging Het
St3gal4 C A 9: 34,964,744 (GRCm39) V155F probably damaging Het
Stxbp5 C T 10: 9,684,784 (GRCm39) E539K possibly damaging Het
Thnsl2 A T 6: 71,111,208 (GRCm39) L220* probably null Het
Tinf2 G A 14: 55,917,566 (GRCm39) P308S probably benign Het
Tnf T C 17: 35,420,120 (GRCm39) probably benign Het
Ttc21b T C 2: 66,073,117 (GRCm39) I190V probably benign Het
Ttn T C 2: 76,537,391 (GRCm39) T34846A probably benign Het
Ube4a A G 9: 44,861,114 (GRCm39) V232A possibly damaging Het
Uri1 A T 7: 37,669,100 (GRCm39) D122E probably damaging Het
Vmn2r94 T G 17: 18,477,973 (GRCm39) Q146P probably damaging Het
Zan T A 5: 137,456,901 (GRCm39) E1278D unknown Het
Zfhx4 T A 3: 5,310,375 (GRCm39) S919R possibly damaging Het
Other mutations in Tbc1d7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Tbc1d7 APN 13 43,312,797 (GRCm39) missense probably damaging 1.00
IGL01460:Tbc1d7 APN 13 43,318,835 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGAGACCCAGGCTACAGTTACAG -3'
(R):5'- TTGAGCACAGAGAGTCCTGCAACC -3'

Sequencing Primer
(F):5'- GGCTACAGTTACAGAAACTGC -3'
(R):5'- AGGACTGACTTGATGCTTCTCAC -3'
Posted On 2013-11-08