Incidental Mutation 'IGL01868:Tbc1d9b'
ID 178607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d9b
Ensembl Gene ENSMUSG00000036644
Gene Name TBC1 domain family, member 9B
Synonyms 2700008N14Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.553) question?
Stock # IGL01868
Quality Score
Status
Chromosome 11
Chromosomal Location 50022223-50063612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50052460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 889 (F889S)
Ref Sequence ENSEMBL: ENSMUSP00000098828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093138] [ENSMUST00000101270]
AlphaFold Q5SVR0
Predicted Effect probably damaging
Transcript: ENSMUST00000093138
AA Change: F889S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644
AA Change: F889S

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
GRAM 142 209 1.21e-26 SMART
GRAM 288 356 3.02e-22 SMART
low complexity region 357 368 N/A INTRINSIC
low complexity region 422 447 N/A INTRINSIC
low complexity region 470 481 N/A INTRINSIC
TBC 506 719 1.18e-57 SMART
Blast:TBC 727 810 2e-28 BLAST
low complexity region 1124 1138 N/A INTRINSIC
low complexity region 1144 1155 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000101270
AA Change: F889S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644
AA Change: F889S

DomainStartEndE-ValueType
low complexity region 35 51 N/A INTRINSIC
GRAM 142 209 1.21e-26 SMART
GRAM 288 356 3.02e-22 SMART
low complexity region 357 368 N/A INTRINSIC
low complexity region 422 447 N/A INTRINSIC
low complexity region 470 481 N/A INTRINSIC
TBC 506 719 1.18e-57 SMART
Blast:TBC 727 810 3e-28 BLAST
low complexity region 970 980 N/A INTRINSIC
low complexity region 1141 1155 N/A INTRINSIC
low complexity region 1161 1172 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141520
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G A 18: 67,547,218 (GRCm39) T569M possibly damaging Het
Aldh1l1 A T 6: 90,560,212 (GRCm39) K620* probably null Het
Amdhd2 G T 17: 24,376,504 (GRCm39) T346K probably damaging Het
Arhgap44 T C 11: 64,902,904 (GRCm39) D521G probably damaging Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Ccdc187 C A 2: 26,170,960 (GRCm39) R506L probably benign Het
Cd37 T C 7: 44,885,603 (GRCm39) Q128R probably benign Het
Cdh22 T A 2: 164,999,278 (GRCm39) M185L probably damaging Het
Cib2 A T 9: 54,455,759 (GRCm39) N68K probably damaging Het
Ddx46 C T 13: 55,787,683 (GRCm39) R96* probably null Het
Dnajc13 A T 9: 104,039,944 (GRCm39) H2050Q possibly damaging Het
Drgx C A 14: 32,330,334 (GRCm39) F150L probably damaging Het
Duox1 A G 2: 122,168,888 (GRCm39) H1172R probably benign Het
Eftud2 C T 11: 102,759,953 (GRCm39) V132I probably benign Het
Fcrl5 G A 3: 87,351,014 (GRCm39) D87N possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Kat6a T C 8: 23,416,471 (GRCm39) F660L probably damaging Het
Lipo2 T C 19: 33,708,238 (GRCm39) M259V probably benign Het
Lrrcc1 T A 3: 14,619,417 (GRCm39) L90* probably null Het
Lsm1 G A 8: 26,283,821 (GRCm39) probably null Het
Luzp1 T C 4: 136,270,048 (GRCm39) I757T probably damaging Het
Micall1 A G 15: 78,999,260 (GRCm39) I76V probably benign Het
Mmp21 A T 7: 133,277,643 (GRCm39) D394E probably damaging Het
Mtfr1l T C 4: 134,258,018 (GRCm39) D68G probably null Het
Necab2 A G 8: 120,189,315 (GRCm39) S162G probably benign Het
Or11a4 A T 17: 37,536,043 (GRCm39) Q9L probably benign Het
Or4c100 T C 2: 88,356,059 (GRCm39) V44A possibly damaging Het
Or51b17 G A 7: 103,542,583 (GRCm39) R120* probably null Het
Or6n1 C T 1: 173,916,936 (GRCm39) T110I possibly damaging Het
Pde7b A T 10: 20,282,911 (GRCm39) C376* probably null Het
Pira12 G A 7: 3,900,174 (GRCm39) Q143* probably null Het
Plcb2 A G 2: 118,540,071 (GRCm39) L1074P probably damaging Het
Plcb2 G T 2: 118,541,868 (GRCm39) T914N probably benign Het
Prph C A 15: 98,954,224 (GRCm39) D207E probably damaging Het
Rbp4 C A 19: 38,112,968 (GRCm39) R37L probably damaging Het
Ryr3 T C 2: 112,633,503 (GRCm39) probably benign Het
Sardh T G 2: 27,117,159 (GRCm39) Q496P probably benign Het
Serpina1f T A 12: 103,659,704 (GRCm39) N193Y probably benign Het
Slc10a7 G A 8: 79,423,965 (GRCm39) probably null Het
Spg7 T C 8: 123,816,975 (GRCm39) probably null Het
Sphkap T C 1: 83,258,120 (GRCm39) probably null Het
Tas2r121 T A 6: 132,677,235 (GRCm39) I246L probably benign Het
Tcp10a T C 17: 7,597,263 (GRCm39) M140T possibly damaging Het
Tctn2 G A 5: 124,754,591 (GRCm39) noncoding transcript Het
Tfap2b G T 1: 19,284,506 (GRCm39) R138L probably damaging Het
Tnrc18 T C 5: 142,757,567 (GRCm39) T985A unknown Het
Treml1 G A 17: 48,673,035 (GRCm39) V211I probably benign Het
Ubr4 C T 4: 139,139,989 (GRCm39) Q1191* probably null Het
Vim G A 2: 13,583,249 (GRCm39) R217H possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r77 A G 7: 86,452,224 (GRCm39) D468G probably benign Het
Vmn2r98 G T 17: 19,286,548 (GRCm39) V349F probably benign Het
Vwa7 A T 17: 35,240,235 (GRCm39) E401V probably null Het
Zfp119b C A 17: 56,246,866 (GRCm39) V75L possibly damaging Het
Zfp287 C T 11: 62,606,083 (GRCm39) E275K probably benign Het
Other mutations in Tbc1d9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01870:Tbc1d9b APN 11 50,052,915 (GRCm39) missense probably damaging 1.00
IGL02082:Tbc1d9b APN 11 50,054,709 (GRCm39) missense probably benign 0.00
IGL02105:Tbc1d9b APN 11 50,040,653 (GRCm39) missense probably damaging 0.96
IGL02264:Tbc1d9b APN 11 50,040,584 (GRCm39) missense probably damaging 0.98
IGL02801:Tbc1d9b APN 11 50,043,657 (GRCm39) missense probably damaging 1.00
IGL03111:Tbc1d9b APN 11 50,049,369 (GRCm39) missense probably damaging 1.00
IGL02988:Tbc1d9b UTSW 11 50,042,773 (GRCm39) missense possibly damaging 0.80
R0102:Tbc1d9b UTSW 11 50,026,676 (GRCm39) missense probably damaging 1.00
R0109:Tbc1d9b UTSW 11 50,049,261 (GRCm39) missense probably benign 0.02
R0131:Tbc1d9b UTSW 11 50,026,751 (GRCm39) missense probably benign
R0463:Tbc1d9b UTSW 11 50,035,894 (GRCm39) missense probably benign 0.00
R0472:Tbc1d9b UTSW 11 50,059,055 (GRCm39) splice site probably null
R0846:Tbc1d9b UTSW 11 50,062,148 (GRCm39) missense probably benign 0.01
R1099:Tbc1d9b UTSW 11 50,037,135 (GRCm39) missense probably benign 0.04
R1276:Tbc1d9b UTSW 11 50,043,476 (GRCm39) missense possibly damaging 0.87
R1642:Tbc1d9b UTSW 11 50,040,659 (GRCm39) missense probably damaging 0.98
R2679:Tbc1d9b UTSW 11 50,052,528 (GRCm39) splice site probably null
R2915:Tbc1d9b UTSW 11 50,040,563 (GRCm39) missense possibly damaging 0.95
R3825:Tbc1d9b UTSW 11 50,061,954 (GRCm39) missense possibly damaging 0.85
R3964:Tbc1d9b UTSW 11 50,059,523 (GRCm39) missense possibly damaging 0.50
R4051:Tbc1d9b UTSW 11 50,062,070 (GRCm39) missense probably benign 0.09
R4705:Tbc1d9b UTSW 11 50,031,289 (GRCm39) missense probably benign 0.33
R4783:Tbc1d9b UTSW 11 50,062,125 (GRCm39) missense probably benign 0.00
R5330:Tbc1d9b UTSW 11 50,037,140 (GRCm39) missense probably benign
R5331:Tbc1d9b UTSW 11 50,037,140 (GRCm39) missense probably benign
R5888:Tbc1d9b UTSW 11 50,031,311 (GRCm39) missense probably benign 0.15
R5949:Tbc1d9b UTSW 11 50,038,876 (GRCm39) missense probably benign
R6144:Tbc1d9b UTSW 11 50,037,155 (GRCm39) missense probably benign
R6166:Tbc1d9b UTSW 11 50,026,673 (GRCm39) missense probably damaging 1.00
R6331:Tbc1d9b UTSW 11 50,022,324 (GRCm39) missense possibly damaging 0.95
R6432:Tbc1d9b UTSW 11 50,037,155 (GRCm39) missense probably benign
R6856:Tbc1d9b UTSW 11 50,059,573 (GRCm39) missense probably benign 0.11
R7110:Tbc1d9b UTSW 11 50,054,657 (GRCm39) missense probably benign 0.09
R7134:Tbc1d9b UTSW 11 50,043,519 (GRCm39) missense possibly damaging 0.55
R7372:Tbc1d9b UTSW 11 50,059,515 (GRCm39) splice site probably null
R7464:Tbc1d9b UTSW 11 50,022,312 (GRCm39) missense probably damaging 1.00
R7508:Tbc1d9b UTSW 11 50,035,947 (GRCm39) missense probably damaging 0.97
R7584:Tbc1d9b UTSW 11 50,061,543 (GRCm39) missense probably damaging 1.00
R7730:Tbc1d9b UTSW 11 50,026,742 (GRCm39) missense possibly damaging 0.89
R7747:Tbc1d9b UTSW 11 50,052,447 (GRCm39) missense probably benign 0.39
R8260:Tbc1d9b UTSW 11 50,055,013 (GRCm39) missense probably benign 0.26
R8345:Tbc1d9b UTSW 11 50,040,659 (GRCm39) missense probably damaging 0.98
R8711:Tbc1d9b UTSW 11 50,047,578 (GRCm39) missense probably damaging 1.00
R8979:Tbc1d9b UTSW 11 50,061,809 (GRCm39) missense probably benign 0.00
R9012:Tbc1d9b UTSW 11 50,040,688 (GRCm39) missense probably benign 0.00
R9300:Tbc1d9b UTSW 11 50,054,714 (GRCm39) missense probably benign 0.00
R9655:Tbc1d9b UTSW 11 50,059,610 (GRCm39) missense possibly damaging 0.93
R9794:Tbc1d9b UTSW 11 50,062,005 (GRCm39) missense probably benign 0.28
X0065:Tbc1d9b UTSW 11 50,059,010 (GRCm39) nonsense probably null
Posted On 2014-05-07