Incidental Mutation 'IGL02799:Tbc1d2b'
ID 360117
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d2b
Ensembl Gene ENSMUSG00000037410
Gene Name TBC1 domain family, member 2B
Synonyms 1810061M12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02799 (G1)
Quality Score
Status
Chromosome 9
Chromosomal Location 90084100-90152861 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 90105487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041767]
AlphaFold Q3U0J8
Predicted Effect probably benign
Transcript: ENSMUST00000041767
SMART Domains Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410

DomainStartEndE-ValueType
PH 35 141 2.66e-9 SMART
low complexity region 324 334 N/A INTRINSIC
low complexity region 343 356 N/A INTRINSIC
Blast:TBC 358 601 2e-25 BLAST
TBC 661 881 3.75e-60 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120385
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G probably benign Het
Other mutations in Tbc1d2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Tbc1d2b APN 9 90,108,262 (GRCm39) missense probably benign
IGL00791:Tbc1d2b APN 9 90,109,481 (GRCm39) missense probably benign 0.18
IGL01457:Tbc1d2b APN 9 90,087,144 (GRCm39) missense probably damaging 1.00
IGL01535:Tbc1d2b APN 9 90,097,526 (GRCm39) splice site probably benign
IGL02089:Tbc1d2b APN 9 90,104,412 (GRCm39) missense possibly damaging 0.80
IGL02409:Tbc1d2b APN 9 90,104,405 (GRCm39) missense probably benign 0.00
IGL03198:Tbc1d2b APN 9 90,104,510 (GRCm39) missense probably damaging 1.00
Leone UTSW 9 90,089,940 (GRCm39) missense probably damaging 1.00
ocelot UTSW 9 90,089,937 (GRCm39) missense probably damaging 1.00
panthera UTSW 9 90,108,301 (GRCm39) missense probably benign
pardo UTSW 9 90,101,197 (GRCm39) missense probably benign 0.13
pardus UTSW 9 90,101,063 (GRCm39) nonsense probably null
roar UTSW 9 90,100,975 (GRCm39) nonsense probably null
R0062:Tbc1d2b UTSW 9 90,104,355 (GRCm39) splice site probably benign
R0062:Tbc1d2b UTSW 9 90,104,355 (GRCm39) splice site probably benign
R0671:Tbc1d2b UTSW 9 90,104,558 (GRCm39) splice site probably benign
R0682:Tbc1d2b UTSW 9 90,131,915 (GRCm39) missense probably benign 0.01
R1074:Tbc1d2b UTSW 9 90,104,393 (GRCm39) missense possibly damaging 0.68
R1075:Tbc1d2b UTSW 9 90,104,393 (GRCm39) missense possibly damaging 0.68
R1140:Tbc1d2b UTSW 9 90,108,429 (GRCm39) missense possibly damaging 0.91
R1892:Tbc1d2b UTSW 9 90,100,996 (GRCm39) missense probably damaging 0.98
R4064:Tbc1d2b UTSW 9 90,100,975 (GRCm39) nonsense probably null
R4541:Tbc1d2b UTSW 9 90,087,222 (GRCm39) missense probably damaging 1.00
R4590:Tbc1d2b UTSW 9 90,152,553 (GRCm39) missense possibly damaging 0.81
R4651:Tbc1d2b UTSW 9 90,089,940 (GRCm39) missense probably damaging 1.00
R4652:Tbc1d2b UTSW 9 90,089,940 (GRCm39) missense probably damaging 1.00
R4971:Tbc1d2b UTSW 9 90,100,923 (GRCm39) missense probably benign 0.00
R5086:Tbc1d2b UTSW 9 90,109,510 (GRCm39) missense probably benign
R5131:Tbc1d2b UTSW 9 90,091,812 (GRCm39) missense probably damaging 1.00
R5205:Tbc1d2b UTSW 9 90,089,863 (GRCm39) missense probably damaging 1.00
R5502:Tbc1d2b UTSW 9 90,109,496 (GRCm39) missense probably benign
R5509:Tbc1d2b UTSW 9 90,101,022 (GRCm39) missense probably damaging 1.00
R5534:Tbc1d2b UTSW 9 90,109,559 (GRCm39) missense possibly damaging 0.89
R5729:Tbc1d2b UTSW 9 90,089,925 (GRCm39) missense probably benign 0.22
R5735:Tbc1d2b UTSW 9 90,104,462 (GRCm39) missense possibly damaging 0.71
R5847:Tbc1d2b UTSW 9 90,091,777 (GRCm39) missense probably damaging 1.00
R5928:Tbc1d2b UTSW 9 90,101,197 (GRCm39) missense probably benign 0.13
R6595:Tbc1d2b UTSW 9 90,108,145 (GRCm39) missense probably benign 0.02
R6766:Tbc1d2b UTSW 9 90,108,262 (GRCm39) missense probably benign
R7563:Tbc1d2b UTSW 9 90,108,301 (GRCm39) missense probably benign
R7563:Tbc1d2b UTSW 9 90,101,063 (GRCm39) nonsense probably null
R8126:Tbc1d2b UTSW 9 90,104,369 (GRCm39) missense probably benign 0.00
R8162:Tbc1d2b UTSW 9 90,089,937 (GRCm39) missense probably damaging 1.00
R8928:Tbc1d2b UTSW 9 90,108,190 (GRCm39) missense probably damaging 1.00
R9182:Tbc1d2b UTSW 9 90,152,652 (GRCm39) missense probably damaging 0.99
R9210:Tbc1d2b UTSW 9 90,087,183 (GRCm39) missense possibly damaging 0.74
R9212:Tbc1d2b UTSW 9 90,087,183 (GRCm39) missense possibly damaging 0.74
R9381:Tbc1d2b UTSW 9 90,101,139 (GRCm39) missense possibly damaging 0.63
R9494:Tbc1d2b UTSW 9 90,152,563 (GRCm39) missense probably damaging 1.00
X0066:Tbc1d2b UTSW 9 90,100,711 (GRCm39) critical splice donor site probably null
Posted On 2015-12-18