Incidental Mutation 'R6320:Tbc1d7'
ID 510117
Institutional Source Beutler Lab
Gene Symbol Tbc1d7
Ensembl Gene ENSMUSG00000021368
Gene Name TBC1 domain family, member 7
Synonyms 2610009C09Rik
MMRRC Submission 044475-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.769) question?
Stock # R6320 (G1)
Quality Score 147.008
Status Validated
Chromosome 13
Chromosomal Location 43305216-43324977 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 43306409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021797] [ENSMUST00000179852] [ENSMUST00000220787] [ENSMUST00000221352] [ENSMUST00000221795] [ENSMUST00000223000] [ENSMUST00000222160]
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 unknown
Transcript: ENSMUST00000223000
AA Change: G189D
Predicted Effect probably benign
Transcript: ENSMUST00000222160
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223076
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b G T 3: 20,369,943 (GRCm39) A221D probably benign Het
Aldh18a1 A T 19: 40,559,005 (GRCm39) D280E probably benign Het
Apob G A 12: 8,039,194 (GRCm39) D475N probably benign Het
Bmi1 C T 2: 18,689,186 (GRCm39) T290I probably benign Het
Brd8 A T 18: 34,746,292 (GRCm39) D139E possibly damaging Het
Cacna1e C A 1: 154,317,270 (GRCm39) V1467F possibly damaging Het
Cdh15 A G 8: 123,591,086 (GRCm39) D445G probably benign Het
Ceacam5 T A 7: 17,481,123 (GRCm39) L290H probably damaging Het
Celsr1 G T 15: 85,785,160 (GRCm39) Q3025K probably benign Het
Chi3l1 T A 1: 134,109,996 (GRCm39) M1K probably null Het
Crybg2 T C 4: 133,808,737 (GRCm39) S1404P probably damaging Het
Cubn C A 2: 13,285,006 (GRCm39) C3470F probably damaging Het
Cyp20a1 T C 1: 60,391,331 (GRCm39) probably null Het
Cyp24a1 G T 2: 170,328,704 (GRCm39) T408K probably benign Het
Cyp2a12 A T 7: 26,730,577 (GRCm39) I181F possibly damaging Het
Dnm1l A T 16: 16,149,952 (GRCm39) I268N probably damaging Het
Eif2a A G 3: 58,464,517 (GRCm39) probably null Het
Epg5 T C 18: 78,005,613 (GRCm39) F701S probably damaging Het
Fbxo46 T C 7: 18,870,466 (GRCm39) S362P possibly damaging Het
Fgf22 A G 10: 79,592,830 (GRCm39) probably benign Het
Fhod1 A C 8: 106,063,982 (GRCm39) probably benign Het
Flnc T A 6: 29,459,062 (GRCm39) V2448D probably damaging Het
Gm2696 G T 10: 77,671,972 (GRCm39) probably benign Het
Gmpr T C 13: 45,685,874 (GRCm39) S214P possibly damaging Het
Krt6a A G 15: 101,600,744 (GRCm39) V308A probably damaging Het
Lig3 T A 11: 82,684,833 (GRCm39) probably null Het
Lrrc37a T A 11: 103,394,877 (GRCm39) N183Y probably benign Het
Mapk8ip3 C A 17: 25,125,879 (GRCm39) G422V probably damaging Het
Mks1 T C 11: 87,746,325 (GRCm39) S97P probably benign Het
Mphosph9 A T 5: 124,463,024 (GRCm39) V7E probably damaging Het
Msh5 A G 17: 35,248,900 (GRCm39) L711P probably damaging Het
Naga T A 15: 82,216,404 (GRCm39) probably null Het
Nherf4 A G 9: 44,159,980 (GRCm39) V380A probably benign Het
Nlrp10 T A 7: 108,524,953 (GRCm39) T176S possibly damaging Het
Nqo1 T C 8: 108,115,582 (GRCm39) N232D probably benign Het
Or1j21 C G 2: 36,683,585 (GRCm39) N112K possibly damaging Het
Or2b6 T A 13: 21,823,418 (GRCm39) I92L probably damaging Het
P2ry6 A G 7: 100,587,603 (GRCm39) F252S probably damaging Het
P3h3 G A 6: 124,831,835 (GRCm39) R317W probably benign Het
Pakap T A 4: 57,710,173 (GRCm39) C373S probably damaging Het
Phkb T A 8: 86,602,327 (GRCm39) D39E probably benign Het
Psg16 G A 7: 16,822,112 (GRCm39) G23D probably damaging Het
Ptgr2 T A 12: 84,349,111 (GRCm39) I150K probably benign Het
Ptprf A G 4: 118,070,011 (GRCm39) V1457A probably benign Het
Sart3 A T 5: 113,889,301 (GRCm39) Y508N probably benign Het
Sh3bp1 C T 15: 78,795,715 (GRCm39) P615S probably damaging Het
Ska3 A T 14: 58,054,148 (GRCm39) N267K probably benign Het
Slc26a7 A G 4: 14,524,498 (GRCm39) I462T probably benign Het
Slu7 C T 11: 43,332,316 (GRCm39) A244V probably benign Het
Smarca4 C T 9: 21,548,671 (GRCm39) P319L probably damaging Het
Smg9 A G 7: 24,120,286 (GRCm39) D420G probably benign Het
Strc T A 2: 121,205,439 (GRCm39) D25V probably benign Het
Syne2 T G 12: 76,108,424 (GRCm39) V936G probably damaging Het
Terb1 C A 8: 105,173,831 (GRCm39) D751Y probably damaging Het
Trpc1 A G 9: 95,603,303 (GRCm39) Y410H probably damaging Het
Ush2a A G 1: 188,089,043 (GRCm39) N333D probably benign Het
Usp34 T C 11: 23,402,520 (GRCm39) S2438P probably damaging Het
Vps35l T C 7: 118,353,072 (GRCm39) V189A probably benign Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zfp7 G A 15: 76,774,810 (GRCm39) G284D possibly damaging Het
Zfyve26 A G 12: 79,286,776 (GRCm39) S2271P probably damaging Het
Zscan18 G A 7: 12,509,147 (GRCm39) probably benign 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
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
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'- AATTTGTTCCACTCCCAGGAGG -3'
(R):5'- TGGCATTGAACAGTGCAGAG -3'

Sequencing Primer
(F):5'- GGCTTGCATGCAGACCAAGATC -3'
(R):5'- CATTGAACAGTGCAGAGAAGATAAC -3'
Posted On 2018-04-02