Incidental Mutation 'R5270:Tbc1d9'
ID 400207
Institutional Source Beutler Lab
Gene Symbol Tbc1d9
Ensembl Gene ENSMUSG00000031709
Gene Name TBC1 domain family, member 9
Synonyms C76116, 4933431N12Rik
MMRRC Submission 042835-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R5270 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 83891981-83999563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83960283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 179 (M179V)
Ref Sequence ENSEMBL: ENSMUSP00000091093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034145] [ENSMUST00000093393]
AlphaFold Q3UYK3
Predicted Effect probably benign
Transcript: ENSMUST00000034145
SMART Domains Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709

DomainStartEndE-ValueType
low complexity region 31 55 N/A INTRINSIC
low complexity region 192 208 N/A INTRINSIC
TBC 279 492 8.68e-56 SMART
Blast:TBC 500 587 5e-35 BLAST
PDB:1BJF|B 579 703 3e-7 PDB
low complexity region 917 937 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000093393
AA Change: M179V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: M179V

DomainStartEndE-ValueType
low complexity region 31 55 N/A INTRINSIC
GRAM 146 213 1.2e-25 SMART
low complexity region 267 278 N/A INTRINSIC
GRAM 293 361 1.37e-20 SMART
low complexity region 425 441 N/A INTRINSIC
TBC 512 725 8.68e-56 SMART
Blast:TBC 733 820 6e-35 BLAST
PDB:1BJF|B 812 936 4e-7 PDB
low complexity region 1150 1170 N/A INTRINSIC
Meta Mutation Damage Score 0.1243 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
Validation Efficiency 98% (59/60)
Allele List at MGI

All alleles(5) : Targeted, other(2) Gene trapped(3)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T C 19: 55,282,650 (GRCm39) V585A possibly damaging Het
Adam6a A T 12: 113,507,747 (GRCm39) H40L possibly damaging Het
Adamts20 G A 15: 94,180,400 (GRCm39) P1752S probably benign Het
Atp5if1 A G 4: 132,260,611 (GRCm39) F27L probably damaging Het
B230104I21Rik A G 4: 154,434,050 (GRCm39) probably benign Het
Ciz1 C A 2: 32,264,511 (GRCm39) probably null Het
Crb1 T A 1: 139,164,602 (GRCm39) Y1174F probably damaging Het
Csf2rb2 A T 15: 78,176,182 (GRCm39) probably null Het
Cyp3a25 A T 5: 145,918,312 (GRCm39) M433K probably benign Het
Dock4 A G 12: 40,783,270 (GRCm39) I735V probably benign Het
Dpp6 C T 5: 27,839,532 (GRCm39) S349L probably damaging Het
Epg5 T A 18: 78,026,778 (GRCm39) N1256K possibly damaging Het
Epha4 A G 1: 77,483,244 (GRCm39) V255A probably damaging Het
Gabrb1 A T 5: 72,265,669 (GRCm39) D155V probably damaging Het
Gpr35 A T 1: 92,910,299 (GRCm39) T4S probably benign Het
Hcrt T C 11: 100,652,823 (GRCm39) T64A probably damaging Het
Henmt1 G A 3: 108,867,530 (GRCm39) R355H probably benign Het
Hrh1 C A 6: 114,458,179 (GRCm39) R487S possibly damaging Het
Ints2 T C 11: 86,106,621 (GRCm39) S930G probably damaging Het
Irs2 G A 8: 11,056,678 (GRCm39) Q585* probably null Het
Kcns1 C A 2: 164,010,249 (GRCm39) R170L probably benign Het
Kdm3b T C 18: 34,960,467 (GRCm39) S1351P probably damaging Het
Ly9 T C 1: 171,428,730 (GRCm39) T297A probably damaging Het
M6pr G A 6: 122,292,048 (GRCm39) D127N possibly damaging Het
Macir T C 1: 97,573,720 (GRCm39) Q115R probably damaging Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Nit2 G A 16: 56,977,494 (GRCm39) P179S probably damaging Het
Per1 T C 11: 68,994,424 (GRCm39) M516T probably benign Het
Pkdrej A T 15: 85,702,528 (GRCm39) I1136N probably damaging Het
Pramel27 A G 4: 143,578,468 (GRCm39) M243V probably damaging Het
Prdm9 G T 17: 15,773,625 (GRCm39) T257K probably benign Het
Prkdc T C 16: 15,552,819 (GRCm39) L2085P probably damaging Het
Rasgrf1 A C 9: 89,908,747 (GRCm39) E1240D probably benign Het
Rrh T C 3: 129,606,998 (GRCm39) I142V probably benign Het
Saal1 G T 7: 46,351,157 (GRCm39) probably benign Het
Sdcbp2 A G 2: 151,426,812 (GRCm39) I70V probably benign Het
Skida1 C A 2: 18,052,460 (GRCm39) A231S probably benign Het
Smtnl2 T A 11: 72,290,743 (GRCm39) T401S probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Spag4 G T 2: 155,907,853 (GRCm39) probably benign Het
Tm9sf1 G T 14: 55,873,938 (GRCm39) T520N probably damaging Het
Tmem163 G A 1: 127,419,289 (GRCm39) probably benign Het
Vmn1r47 A T 6: 89,999,525 (GRCm39) Q219L probably damaging Het
Vmn2r104 A T 17: 20,258,528 (GRCm39) C539S probably damaging Het
Wdr17 G T 8: 55,096,221 (GRCm39) S1024R probably benign Het
Zc3h4 A G 7: 16,168,440 (GRCm39) T850A unknown Het
Zfa-ps A G 10: 52,419,552 (GRCm39) noncoding transcript Het
Zfp146 G T 7: 29,861,900 (GRCm39) N47K probably benign Het
Zfp353-ps G T 8: 42,534,572 (GRCm39) noncoding transcript Het
Zfp607a A T 7: 27,577,730 (GRCm39) K267* probably null Het
Other mutations in Tbc1d9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Tbc1d9 APN 8 83,960,791 (GRCm39) missense probably damaging 1.00
IGL01443:Tbc1d9 APN 8 83,966,560 (GRCm39) missense probably damaging 1.00
IGL01536:Tbc1d9 APN 8 83,987,621 (GRCm39) missense probably damaging 1.00
IGL01811:Tbc1d9 APN 8 83,960,307 (GRCm39) missense probably damaging 1.00
IGL02068:Tbc1d9 APN 8 83,966,497 (GRCm39) missense probably damaging 1.00
IGL02938:Tbc1d9 APN 8 83,995,696 (GRCm39) splice site probably benign
IGL02995:Tbc1d9 APN 8 83,995,688 (GRCm39) critical splice donor site probably null
IGL03127:Tbc1d9 APN 8 83,976,102 (GRCm39) missense probably damaging 1.00
IGL03128:Tbc1d9 APN 8 83,892,714 (GRCm39) missense probably benign 0.01
H9600:Tbc1d9 UTSW 8 83,937,090 (GRCm39) missense probably damaging 1.00
R0067:Tbc1d9 UTSW 8 83,960,872 (GRCm39) missense probably damaging 1.00
R0067:Tbc1d9 UTSW 8 83,960,872 (GRCm39) missense probably damaging 1.00
R0112:Tbc1d9 UTSW 8 83,991,466 (GRCm39) splice site probably benign
R0525:Tbc1d9 UTSW 8 83,995,614 (GRCm39) missense probably benign 0.08
R0528:Tbc1d9 UTSW 8 83,937,085 (GRCm39) missense probably damaging 1.00
R0737:Tbc1d9 UTSW 8 83,985,942 (GRCm39) missense probably damaging 1.00
R1144:Tbc1d9 UTSW 8 83,963,200 (GRCm39) missense possibly damaging 0.93
R1354:Tbc1d9 UTSW 8 83,995,610 (GRCm39) critical splice acceptor site probably null
R1551:Tbc1d9 UTSW 8 83,992,787 (GRCm39) missense probably benign 0.03
R1620:Tbc1d9 UTSW 8 83,976,224 (GRCm39) missense probably damaging 1.00
R1971:Tbc1d9 UTSW 8 83,976,139 (GRCm39) missense probably damaging 1.00
R1990:Tbc1d9 UTSW 8 83,997,932 (GRCm39) missense probably damaging 1.00
R2082:Tbc1d9 UTSW 8 83,997,616 (GRCm39) missense probably damaging 1.00
R2149:Tbc1d9 UTSW 8 83,998,078 (GRCm39) missense probably damaging 1.00
R2442:Tbc1d9 UTSW 8 83,892,705 (GRCm39) start codon destroyed probably null 0.08
R2920:Tbc1d9 UTSW 8 83,937,098 (GRCm39) missense probably benign 0.00
R3832:Tbc1d9 UTSW 8 83,960,292 (GRCm39) missense probably damaging 1.00
R3953:Tbc1d9 UTSW 8 83,960,161 (GRCm39) missense probably damaging 1.00
R3955:Tbc1d9 UTSW 8 83,960,161 (GRCm39) missense probably damaging 1.00
R3956:Tbc1d9 UTSW 8 83,960,161 (GRCm39) missense probably damaging 1.00
R3957:Tbc1d9 UTSW 8 83,960,161 (GRCm39) missense probably damaging 1.00
R4117:Tbc1d9 UTSW 8 83,992,776 (GRCm39) missense possibly damaging 0.93
R4467:Tbc1d9 UTSW 8 83,937,107 (GRCm39) missense probably damaging 1.00
R4533:Tbc1d9 UTSW 8 83,997,547 (GRCm39) missense probably damaging 1.00
R4568:Tbc1d9 UTSW 8 83,997,806 (GRCm39) missense probably benign 0.00
R4694:Tbc1d9 UTSW 8 83,960,875 (GRCm39) missense probably damaging 1.00
R4804:Tbc1d9 UTSW 8 83,982,554 (GRCm39) critical splice donor site probably null
R5056:Tbc1d9 UTSW 8 83,995,835 (GRCm39) missense probably benign
R5073:Tbc1d9 UTSW 8 83,960,176 (GRCm39) missense probably damaging 1.00
R5122:Tbc1d9 UTSW 8 83,963,172 (GRCm39) missense probably damaging 0.98
R5618:Tbc1d9 UTSW 8 83,969,221 (GRCm39) missense probably damaging 1.00
R5738:Tbc1d9 UTSW 8 83,997,655 (GRCm39) missense probably benign
R5793:Tbc1d9 UTSW 8 83,998,069 (GRCm39) missense probably damaging 0.96
R5908:Tbc1d9 UTSW 8 83,976,174 (GRCm39) missense probably benign 0.05
R6258:Tbc1d9 UTSW 8 83,937,145 (GRCm39) missense probably damaging 1.00
R6584:Tbc1d9 UTSW 8 83,987,629 (GRCm39) missense probably damaging 0.98
R6888:Tbc1d9 UTSW 8 83,998,217 (GRCm39) missense possibly damaging 0.92
R6897:Tbc1d9 UTSW 8 83,892,809 (GRCm39) missense probably damaging 1.00
R6969:Tbc1d9 UTSW 8 83,968,171 (GRCm39) missense probably damaging 0.99
R7026:Tbc1d9 UTSW 8 83,968,192 (GRCm39) missense probably benign 0.06
R7072:Tbc1d9 UTSW 8 83,991,494 (GRCm39) missense probably damaging 0.97
R7099:Tbc1d9 UTSW 8 83,981,520 (GRCm39) missense probably damaging 1.00
R7138:Tbc1d9 UTSW 8 83,937,113 (GRCm39) missense probably damaging 1.00
R7172:Tbc1d9 UTSW 8 83,981,390 (GRCm39) missense probably damaging 0.96
R7267:Tbc1d9 UTSW 8 83,997,957 (GRCm39) missense probably damaging 1.00
R7371:Tbc1d9 UTSW 8 83,997,890 (GRCm39) missense probably damaging 0.96
R7457:Tbc1d9 UTSW 8 83,963,309 (GRCm39) missense probably damaging 0.99
R7552:Tbc1d9 UTSW 8 83,966,560 (GRCm39) missense probably damaging 1.00
R7645:Tbc1d9 UTSW 8 83,969,182 (GRCm39) missense probably damaging 1.00
R7728:Tbc1d9 UTSW 8 83,985,979 (GRCm39) missense probably damaging 0.99
R7804:Tbc1d9 UTSW 8 83,963,341 (GRCm39) missense possibly damaging 0.85
R7978:Tbc1d9 UTSW 8 83,966,583 (GRCm39) missense probably damaging 0.98
R8150:Tbc1d9 UTSW 8 83,982,519 (GRCm39) missense probably damaging 1.00
R8325:Tbc1d9 UTSW 8 83,966,667 (GRCm39) critical splice donor site probably null
R8940:Tbc1d9 UTSW 8 83,981,452 (GRCm39) missense probably damaging 1.00
R8995:Tbc1d9 UTSW 8 83,998,180 (GRCm39) missense probably benign
R9075:Tbc1d9 UTSW 8 83,982,501 (GRCm39) missense probably benign 0.06
R9291:Tbc1d9 UTSW 8 83,987,750 (GRCm39) missense probably damaging 1.00
R9335:Tbc1d9 UTSW 8 83,937,160 (GRCm39) missense possibly damaging 0.86
R9749:Tbc1d9 UTSW 8 83,968,339 (GRCm39) critical splice donor site probably null
X0062:Tbc1d9 UTSW 8 83,960,331 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- AGGTGCTTCACTCCTCTGTG -3'
(R):5'- GAAACAGTCTTGACTCCCCTC -3'

Sequencing Primer
(F):5'- TGTTCCGCTGCAGGCATAAC -3'
(R):5'- GACTCCCCTCTGTATTCATGG -3'
Posted On 2016-07-06