Incidental Mutation 'R5122:Tbc1d9'
ID 393351
Institutional Source Beutler Lab
Gene Symbol Tbc1d9
Ensembl Gene ENSMUSG00000031709
Gene Name TBC1 domain family, member 9
Synonyms C76116, 4933431N12Rik
MMRRC Submission 042710-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R5122 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 83891981-83999563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 83963172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 295 (Y295N)
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 damaging
Transcript: ENSMUST00000093393
AA Change: Y295N

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: Y295N

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,750,409 (GRCm39) S1727P probably damaging Het
Actr8 A T 14: 29,704,672 (GRCm39) K57N possibly damaging Het
Bcan G T 3: 87,901,514 (GRCm39) S396Y probably damaging Het
Bltp1 A G 3: 37,088,906 (GRCm39) probably null Het
Bmp2k A G 5: 97,234,874 (GRCm39) probably benign Het
Cd274 A G 19: 29,357,965 (GRCm39) H219R possibly damaging Het
Cdc16 A T 8: 13,814,570 (GRCm39) Y118F probably damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Chchd3 T C 6: 32,945,240 (GRCm39) R89G probably benign Het
Clstn2 C T 9: 97,343,474 (GRCm39) V658M probably damaging Het
Cpt1b A G 15: 89,308,226 (GRCm39) S160P probably benign Het
Crym T C 7: 119,794,718 (GRCm39) N167S probably benign Het
Dhx16 T A 17: 36,194,202 (GRCm39) Y438N probably damaging Het
Dnah12 A G 14: 26,439,155 (GRCm39) R536G probably benign Het
Dnajc11 A G 4: 152,061,454 (GRCm39) D382G possibly damaging Het
Dync1h1 G A 12: 110,596,114 (GRCm39) G1547D probably damaging Het
Eml3 T A 19: 8,915,060 (GRCm39) probably null Het
Ep400 G A 5: 110,816,036 (GRCm39) P2799S probably damaging Het
Ephb6 T C 6: 41,590,338 (GRCm39) V30A probably benign Het
Fam53b T A 7: 132,380,991 (GRCm39) probably benign Het
Fcrl1 A G 3: 87,293,081 (GRCm39) K246R probably benign Het
Focad G A 4: 88,325,602 (GRCm39) probably null Het
Glipr1l2 T C 10: 111,942,961 (GRCm39) I272T possibly damaging Het
Gm8104 A G 14: 42,966,550 (GRCm39) I101V probably benign Het
Grm5 A G 7: 87,724,028 (GRCm39) I773V probably damaging Het
Hyal1 A T 9: 107,455,268 (GRCm39) T193S probably benign Het
Igkv10-94 C A 6: 68,681,655 (GRCm39) G62* probably null Het
Itsn1 A G 16: 91,690,732 (GRCm39) probably benign Het
Kank4 A G 4: 98,644,804 (GRCm39) S983P probably damaging Het
Krtap16-1 C A 11: 99,876,523 (GRCm39) V294F probably damaging Het
Lama3 T G 18: 12,672,823 (GRCm39) V866G possibly damaging Het
Lrba C T 3: 86,256,461 (GRCm39) R1268* probably null Het
Lrriq1 C T 10: 103,023,314 (GRCm39) V984I probably damaging Het
Macf1 A C 4: 123,346,085 (GRCm39) V4136G probably damaging Het
Mdn1 A T 4: 32,670,593 (GRCm39) E419D probably damaging Het
Nedd4l A G 18: 65,324,518 (GRCm39) Y473C probably damaging Het
Nod2 G T 8: 89,390,748 (GRCm39) D330Y probably damaging Het
Nt5c2 C T 19: 46,878,360 (GRCm39) C458Y probably damaging Het
Numa1 T C 7: 101,662,976 (GRCm39) I681T probably damaging Het
Or10a5 C A 7: 106,636,055 (GRCm39) S231* probably null Het
Papolg C T 11: 23,817,501 (GRCm39) probably null Het
Parn A G 16: 13,472,311 (GRCm39) probably null Het
Pgap2 T C 7: 101,880,598 (GRCm39) F42S probably damaging Het
Phf11d A T 14: 59,590,793 (GRCm39) M188K possibly damaging Het
Pofut2 G C 10: 77,104,399 (GRCm39) R392P probably damaging Het
Prpf18 T C 2: 4,648,520 (GRCm39) D102G probably damaging Het
Rreb1 T A 13: 38,114,744 (GRCm39) I701N probably benign Het
Slc26a5 T C 5: 22,052,194 (GRCm39) K45R probably damaging Het
Slc8a3 A G 12: 81,361,032 (GRCm39) probably null Het
Slf1 T A 13: 77,198,106 (GRCm39) M723L probably benign Het
Spata31e5 A G 1: 28,819,141 (GRCm39) S47P probably benign Het
Sra1 T C 18: 36,800,647 (GRCm39) T187A probably benign Het
Stk17b A C 1: 53,815,717 (GRCm39) N27K probably damaging Het
Tubgcp6 A G 15: 89,000,306 (GRCm39) V353A probably damaging Het
Unc80 A T 1: 66,718,749 (GRCm39) T2991S possibly damaging Het
Urb1 G A 16: 90,548,983 (GRCm39) R2242* probably null Het
Vasp T C 7: 18,998,697 (GRCm39) N20S probably benign Het
Zfp263 A G 16: 3,567,719 (GRCm39) H390R probably damaging 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
R5270:Tbc1d9 UTSW 8 83,960,283 (GRCm39) missense probably benign
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'- CTGTAGTAAAATTATGTGCTCAGGGG -3'
(R):5'- AATCGATCCCAGGTTTCCAC -3'

Sequencing Primer
(F):5'- GGGGTTGAAGCTCCACCAATAC -3'
(R):5'- CACTTACTTCCCGGAGTGGAATTATG -3'
Posted On 2016-06-15