Incidental Mutation 'R5056:Tbc1d9'
ID 390849
Institutional Source Beutler Lab
Gene Symbol Tbc1d9
Ensembl Gene ENSMUSG00000031709
Gene Name TBC1 domain family, member 9
Synonyms C76116, 4933431N12Rik
MMRRC Submission 042646-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R5056 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 83891981-83999563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83995835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1013 (S1013P)
Ref Sequence ENSEMBL: ENSMUSP00000091093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034145] [ENSMUST00000093393]
AlphaFold Q3UYK3
Predicted Effect unknown
Transcript: ENSMUST00000034145
AA Change: S780P
SMART Domains Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: S780P

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: S1013P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: S1013P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211568
Meta Mutation Damage Score 0.0584 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.2%
Validation Efficiency 99% (73/74)
Allele List at MGI

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

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030J22Rik T A 8: 117,698,421 (GRCm39) K229* probably null Het
Adora2a T A 10: 75,161,992 (GRCm39) S44T probably damaging Het
Agap3 T C 5: 24,682,860 (GRCm39) V459A probably damaging Het
Apc2 T C 10: 80,137,148 (GRCm39) V31A probably benign Het
Asic2 T A 11: 80,862,429 (GRCm39) K189N possibly damaging Het
Bbs10 C T 10: 111,136,401 (GRCm39) P505S probably benign Het
Brd10 A T 19: 29,694,759 (GRCm39) I1578K probably benign Het
Cdh20 G T 1: 104,881,722 (GRCm39) V396L probably benign Het
Cenpb C T 2: 131,020,091 (GRCm39) probably benign Het
Chil6 T A 3: 106,301,659 (GRCm39) Y147F probably damaging Het
Cluh C T 11: 74,552,772 (GRCm39) R606C probably damaging Het
Cmtr1 A G 17: 29,909,302 (GRCm39) T404A possibly damaging Het
Cnot1 T C 8: 96,467,636 (GRCm39) N1499S probably damaging Het
Dmkn T C 7: 30,463,529 (GRCm39) S61P probably damaging Het
Dmxl1 T C 18: 50,003,990 (GRCm39) C872R probably benign Het
Dnah3 A G 7: 119,620,169 (GRCm39) Y1587H probably damaging Het
Dsc2 A T 18: 20,183,199 (GRCm39) V73D probably damaging Het
F5 A T 1: 164,019,601 (GRCm39) Y692F possibly damaging Het
Fam184a A T 10: 53,550,670 (GRCm39) L80I probably damaging Het
Foxj2 A G 6: 122,810,833 (GRCm39) H271R probably benign Het
Grm7 A G 6: 111,057,404 (GRCm39) T335A probably damaging Het
Hspa9 A G 18: 35,071,734 (GRCm39) L622P probably damaging Het
Kcna7 G A 7: 45,056,015 (GRCm39) R77H probably damaging Het
Kcnd3 T A 3: 105,574,244 (GRCm39) probably benign Het
Klhdc8b ACACGCACGCACGCACGCACGCACGCACGCACGCACGCAC ACACGCACGCACGCACGCACGCACGCACGCACGCACGCACGCAC 9: 108,326,184 (GRCm39) probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrch4 C G 5: 137,635,113 (GRCm39) N237K probably damaging Het
Lss T G 10: 76,388,760 (GRCm39) probably null Het
Map6 T C 7: 98,985,859 (GRCm39) F588L probably benign Het
Mbd6 C T 10: 127,122,310 (GRCm39) V173I probably benign Het
Med13 A T 11: 86,219,391 (GRCm39) S352T probably benign Het
Mettl16 T A 11: 74,707,766 (GRCm39) V320E probably benign Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nup188 T A 2: 30,194,143 (GRCm39) D149E probably damaging Het
Ogfrl1 A G 1: 23,418,130 (GRCm39) S83P probably damaging Het
Or52l1 T A 7: 104,829,779 (GRCm39) H262L probably damaging Het
Or5m13 T A 2: 85,748,480 (GRCm39) D70E probably damaging Het
Or8k36-ps1 T A 2: 86,437,364 (GRCm39) I184F unknown Het
Or9m1 T C 2: 87,733,915 (GRCm39) Y35C probably damaging Het
Pafah1b3 C T 7: 24,994,764 (GRCm39) R98Q probably damaging Het
Pde6b A T 5: 108,571,357 (GRCm39) K437* probably null Het
Ppp1r12b A T 1: 134,762,130 (GRCm39) probably benign Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Pramel34 T C 5: 93,786,784 (GRCm39) probably benign Het
Prdm9 T C 17: 15,782,679 (GRCm39) Q104R possibly damaging Het
Rgs22 A T 15: 36,050,391 (GRCm39) probably null Het
Rnf14 C T 18: 38,441,441 (GRCm39) P277L probably damaging Het
Robo4 T C 9: 37,316,102 (GRCm39) S258P probably benign Het
Sfrp1 T A 8: 23,907,420 (GRCm39) F207I probably damaging Het
Sgms1 A G 19: 32,137,087 (GRCm39) S160P probably damaging Het
Sil1 T C 18: 35,402,755 (GRCm39) K263R probably benign Het
St14 A G 9: 31,008,847 (GRCm39) probably null Het
Syne2 A G 12: 75,955,905 (GRCm39) probably benign Het
Tent5b C T 4: 133,207,749 (GRCm39) R47W possibly damaging Het
Tmem67 T C 4: 12,070,471 (GRCm39) S352G probably benign Het
Trib2 C A 12: 15,843,795 (GRCm39) K282N possibly damaging Het
Trnau1ap T C 4: 132,054,482 (GRCm39) probably benign Het
Trpm4 T C 7: 44,958,054 (GRCm39) D952G probably damaging Het
Unc93b1 A G 19: 3,992,762 (GRCm39) N305D possibly damaging Het
Usp32 A G 11: 84,917,621 (GRCm39) V802A probably benign Het
Vmn2r48 T A 7: 9,676,251 (GRCm39) H410L probably damaging Het
Wfs1 T C 5: 37,132,931 (GRCm39) N116S probably benign Het
Wif1 A T 10: 120,935,684 (GRCm39) H333L probably benign Het
Zfp109 T C 7: 23,928,162 (GRCm39) T416A possibly damaging Het
Zfp808 T A 13: 62,320,444 (GRCm39) C558S probably damaging Het
Zpbp T C 11: 11,409,734 (GRCm39) D116G possibly 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
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
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'- TTCGTCACAGTGAGCCTGAAG -3'
(R):5'- AGTCTCAGATCCGAGTACTTTG -3'

Sequencing Primer
(F):5'- GCAGGACAGAGGTACAGATGTC -3'
(R):5'- TGAAGTCCAGGGTTCAACTC -3'
Posted On 2016-06-06