Incidental Mutation 'IGL01536:Tbc1d9'
ID 89957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d9
Ensembl Gene ENSMUSG00000031709
Gene Name TBC1 domain family, member 9
Synonyms C76116, 4933431N12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # IGL01536
Quality Score
Status
Chromosome 8
Chromosomal Location 83891981-83999563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83987621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 860 (Y860C)
Ref Sequence ENSEMBL: ENSMUSP00000091093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034145] [ENSMUST00000093393]
AlphaFold Q3UYK3
Predicted Effect probably damaging
Transcript: ENSMUST00000034145
AA Change: Y627C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034145
Gene: ENSMUSG00000031709
AA Change: Y627C

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: Y860C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091093
Gene: ENSMUSG00000031709
AA Change: Y860C

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI

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

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5f1a T C 18: 77,868,012 (GRCm39) probably benign Het
Ccnc A G 4: 21,732,505 (GRCm39) I81V probably benign Het
Cep112 A G 11: 108,422,237 (GRCm39) D560G probably null Het
Dis3 A G 14: 99,316,859 (GRCm39) Y826H probably damaging Het
Dtx2 A G 5: 136,038,940 (GRCm39) probably benign Het
Enpp4 T C 17: 44,410,494 (GRCm39) K361E possibly damaging Het
Erap1 A T 13: 74,810,542 (GRCm39) K294* probably null Het
Erbb4 T A 1: 68,329,441 (GRCm39) Y636F probably benign Het
Fads1 C A 19: 10,171,394 (GRCm39) Q342K probably benign Het
Fntb A T 12: 76,966,904 (GRCm39) T447S probably benign Het
Hdac4 A G 1: 91,857,868 (GRCm39) probably benign Het
Kcnh2 A G 5: 24,531,522 (GRCm39) I463T probably damaging Het
Kif13a G T 13: 46,905,765 (GRCm39) T726K probably damaging Het
Lcmt1 T C 7: 123,021,966 (GRCm39) S275P possibly damaging Het
Lmnb1 T C 18: 56,873,868 (GRCm39) S425P probably benign Het
Lrp1b T C 2: 41,000,895 (GRCm39) I2224V probably benign Het
Lrrc45 A T 11: 120,606,410 (GRCm39) T173S probably benign Het
Muc4 T C 16: 32,584,340 (GRCm39) Y2590H possibly damaging Het
Myo18a C T 11: 77,711,677 (GRCm39) P676L probably damaging Het
Or5m10 T C 2: 85,717,944 (GRCm39) S267P probably damaging Het
Pcdhb15 T C 18: 37,608,046 (GRCm39) M426T probably benign Het
Pik3cd A G 4: 149,737,123 (GRCm39) V891A probably damaging Het
Polr1b A G 2: 128,967,475 (GRCm39) N956S probably benign Het
Ppil3 T C 1: 58,483,750 (GRCm39) M1V probably null Het
Rad1 T A 15: 10,493,286 (GRCm39) S238T possibly damaging Het
Shc3 A C 13: 51,670,595 (GRCm39) S51A probably damaging Het
Slc9c1 T C 16: 45,409,992 (GRCm39) probably null Het
Smg5 A G 3: 88,256,552 (GRCm39) K273E possibly damaging Het
Sntg1 C T 1: 8,653,424 (GRCm39) probably null Het
Sstr4 T C 2: 148,237,800 (GRCm39) L137P probably damaging Het
Taar8b C T 10: 23,967,493 (GRCm39) V234I probably benign Het
Tll1 A T 8: 64,527,323 (GRCm39) S399R probably damaging Het
Tns1 T C 1: 73,958,807 (GRCm39) probably benign Het
Trim10 T A 17: 37,188,180 (GRCm39) probably null Het
Ttn C T 2: 76,562,695 (GRCm39) probably null Het
Usp43 T C 11: 67,746,764 (GRCm39) D981G probably benign Het
Vmn2r108 A T 17: 20,683,543 (GRCm39) C554S probably damaging Het
Vmn2r112 T A 17: 22,824,136 (GRCm39) Y464N probably damaging Het
Vmn2r31 T C 7: 7,387,847 (GRCm39) K575E probably damaging Het
Vmn2r50 C T 7: 9,771,610 (GRCm39) C697Y probably damaging Het
Zcchc8 A C 5: 123,858,782 (GRCm39) 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
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
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
Posted On 2013-12-03