Incidental Mutation 'R4051:Tbc1d9b'
ID 314172
Institutional Source Beutler Lab
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 # R4051 ()
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 50022223-50063612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50062070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 1210 (C1210R)
Ref Sequence ENSEMBL: ENSMUSP00000098828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020647] [ENSMUST00000093138] [ENSMUST00000101270] [ENSMUST00000123164]
AlphaFold Q5SVR0
Predicted Effect probably benign
Transcript: ENSMUST00000020647
Predicted Effect probably benign
Transcript: ENSMUST00000093138
AA Change: C1193R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644
AA Change: C1193R

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 benign
Transcript: ENSMUST00000101270
AA Change: C1210R

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644
AA Change: C1210R

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 probably benign
Transcript: ENSMUST00000123164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143480
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A C 7: 45,635,987 (GRCm39) L1020R probably damaging Het
Ahnak A C 19: 8,991,691 (GRCm39) D4325A probably damaging Het
Chtf18 A G 17: 25,938,168 (GRCm39) V955A probably damaging Het
Dclk2 A G 3: 86,738,129 (GRCm39) probably null Het
Disc1 A G 8: 125,875,164 (GRCm39) T547A possibly damaging Het
Eif4b A G 15: 101,995,039 (GRCm39) Y211C probably benign Het
Fli1 T G 9: 32,363,458 (GRCm39) D176A probably benign Het
Hcn2 A C 10: 79,569,521 (GRCm39) probably null Het
Ice1 A G 13: 70,751,646 (GRCm39) V1480A probably damaging Het
Ier5l A C 2: 30,363,324 (GRCm39) S234A probably benign Het
Ino80b G C 6: 83,099,314 (GRCm39) P178R probably damaging Het
Itga11 C T 9: 62,662,933 (GRCm39) Q550* probably null Het
Kdr T A 5: 76,129,068 (GRCm39) M193L probably benign Het
Kif3b G A 2: 153,165,477 (GRCm39) R628Q probably damaging Het
Ldlrad3 C T 2: 101,783,507 (GRCm39) D240N probably damaging Het
Met T C 6: 17,548,728 (GRCm39) V924A possibly damaging Het
Or52m1 T C 7: 102,290,233 (GRCm39) V260A possibly damaging Het
Peg10 T C 6: 4,754,534 (GRCm39) L105P probably benign Het
Phtf1 A G 3: 103,912,824 (GRCm39) T717A possibly damaging Het
Ptafr T C 4: 132,307,305 (GRCm39) W232R probably benign Het
Rnase4 A G 14: 51,342,462 (GRCm39) K62R probably benign Het
Slamf7 T C 1: 171,464,951 (GRCm39) K261E possibly damaging Het
Slc9c1 T A 16: 45,363,593 (GRCm39) Y120N probably damaging Het
Sstr2 A C 11: 113,515,482 (GRCm39) T134P probably damaging Het
Steap4 A G 5: 8,030,404 (GRCm39) Y420C probably damaging Het
Tnfsf10 T A 3: 27,389,503 (GRCm39) I188N probably damaging Het
Trav7-3 A G 14: 53,681,203 (GRCm39) T82A probably benign Het
Usp46 T C 5: 74,163,416 (GRCm39) N283S probably benign Het
Vmn2r84 T G 10: 130,226,767 (GRCm39) N357T probably damaging Het
Zfp217 T C 2: 169,954,536 (GRCm39) probably null Het
Other mutations in Tbc1d9b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Tbc1d9b APN 11 50,052,460 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TCTCGGGAAAGCATTGCAGG -3'
(R):5'- CCATTTCACAGTTCAGCCCAAG -3'

Sequencing Primer
(F):5'- CATTGCAGGATAGTCATGTGATAG -3'
(R):5'- GTTCAGCCCAAGACCCCAGG -3'
Posted On 2015-04-30