Incidental Mutation 'R2915:Tbc1d9b'
ID 254856
Institutional Source Beutler Lab
Gene Symbol Tbc1d9b
Ensembl Gene ENSMUSG00000036644
Gene Name TBC1 domain family, member 9B
Synonyms 2700008N14Rik
MMRRC Submission 040502-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.553) question?
Stock # R2915 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50022223-50063612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50040563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 360 (V360D)
Ref Sequence ENSEMBL: ENSMUSP00000098828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093138] [ENSMUST00000101270]
AlphaFold Q5SVR0
Predicted Effect possibly damaging
Transcript: ENSMUST00000093138
AA Change: V360D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000090825
Gene: ENSMUSG00000036644
AA Change: V360D

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 possibly damaging
Transcript: ENSMUST00000101270
AA Change: V360D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098828
Gene: ENSMUSG00000036644
AA Change: V360D

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: ENSMUST00000124605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137852
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148887
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap11a A G 2: 113,663,853 (GRCm39) V810A probably damaging Het
B3gnt6 T C 7: 97,842,800 (GRCm39) N387D probably benign Het
Col5a2 C G 1: 45,452,656 (GRCm39) G358R probably damaging Het
Cracr2a A G 6: 127,588,468 (GRCm39) K209R probably damaging Het
Dmkn A G 7: 30,464,741 (GRCm39) N32S unknown Het
Dusp13b T A 14: 21,790,205 (GRCm39) N47I probably damaging Het
Elmo2 A G 2: 165,139,573 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,172 (GRCm39) F110L probably damaging Het
Gabrb2 T A 11: 42,482,734 (GRCm39) N197K probably benign Het
Gdnf T A 15: 7,845,130 (GRCm39) V41E possibly damaging Het
Gm21915 A G 9: 40,582,083 (GRCm39) I59V possibly damaging Het
Gprin2 C T 14: 33,917,038 (GRCm39) G244D possibly damaging Het
Grin2d T C 7: 45,482,781 (GRCm39) probably benign Het
Ice2 A G 9: 69,318,122 (GRCm39) D241G probably benign Het
Mios C T 6: 8,214,935 (GRCm39) R44C possibly damaging Het
Nlrp5-ps T C 7: 14,320,636 (GRCm39) noncoding transcript Het
Nyap2 C T 1: 81,065,188 (GRCm39) R67* probably null Het
Or4d6 G A 19: 12,085,989 (GRCm39) P81L probably benign Het
Or4f14 G T 2: 111,743,064 (GRCm39) D70E probably damaging Het
Or5m8 T A 2: 85,822,389 (GRCm39) V76E probably damaging Het
Or5t9 T C 2: 86,659,570 (GRCm39) I158T probably benign Het
Or8g19 G T 9: 39,055,762 (GRCm39) R122L possibly damaging Het
Otop2 G A 11: 115,219,972 (GRCm39) A271T probably benign Het
Otulin A G 15: 27,619,716 (GRCm39) probably benign Het
Pax1 A G 2: 147,210,348 (GRCm39) Y361C probably damaging Het
Pcdhb12 A T 18: 37,570,693 (GRCm39) N613I probably damaging Het
Plekha5 A G 6: 140,534,925 (GRCm39) K173E probably damaging Het
Plin4 T A 17: 56,411,389 (GRCm39) T881S probably damaging Het
Poli A G 18: 70,655,771 (GRCm39) probably null Het
Prex2 T A 1: 11,240,077 (GRCm39) F898I probably damaging Het
Prr14l A T 5: 32,987,112 (GRCm39) H794Q probably benign Het
Prss1 A T 6: 41,439,545 (GRCm39) I93F probably benign Het
Ptpro C T 6: 137,391,239 (GRCm39) probably benign Het
Rad1 T C 15: 10,486,728 (GRCm39) C42R probably damaging Het
Rnf20 A G 4: 49,638,769 (GRCm39) E197G probably benign Het
Setx A G 2: 29,062,336 (GRCm39) E2260G probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Six2 A G 17: 85,992,616 (GRCm39) S296P probably damaging Het
Smg1 T A 7: 117,810,102 (GRCm39) probably benign Het
Spred2 T C 11: 19,948,215 (GRCm39) V41A probably damaging Het
Ssu2 A T 6: 112,354,566 (GRCm39) C219* probably null Het
Tdrd9 G A 12: 112,006,895 (GRCm39) D920N probably damaging Het
Tyrp1 A G 4: 80,755,692 (GRCm39) T154A possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wac A C 18: 7,926,131 (GRCm39) M596L possibly damaging Het
Zfhx2 G T 14: 55,302,014 (GRCm39) P1990Q probably damaging Het
Zfp853 T C 5: 143,275,332 (GRCm39) E96G unknown Het
Zzef1 G A 11: 72,801,152 (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
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
Predicted Primers PCR Primer
(F):5'- ACATCATCTTCCCAGAGCCTG -3'
(R):5'- GTCTGAAACACTGGCCTTTG -3'

Sequencing Primer
(F):5'- GTGCAGCTCACACGCAAG -3'
(R):5'- GAAACACTGGCCTTTGTTCCC -3'
Posted On 2014-12-29