Incidental Mutation 'R7563:Tbc1d2b'
ID 585267
Institutional Source Beutler Lab
Gene Symbol Tbc1d2b
Ensembl Gene ENSMUSG00000037410
Gene Name TBC1 domain family, member 2B
Synonyms 1810061M12Rik
MMRRC Submission 045655-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7563 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 90084100-90152861 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 90101063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 642 (Y642*)
Ref Sequence ENSEMBL: ENSMUSP00000045413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041767]
AlphaFold Q3U0J8
Predicted Effect probably null
Transcript: ENSMUST00000041767
AA Change: Y642*
SMART Domains Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: Y642*

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
Meta Mutation Damage Score 0.9705 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,184,464 (GRCm39) I98T probably damaging Het
Ahnak T C 19: 8,988,529 (GRCm39) I3271T probably damaging Het
Aox1 G A 1: 58,086,304 (GRCm39) V70I probably benign Het
Ap1g2 A G 14: 55,337,206 (GRCm39) S710P probably damaging Het
Bhlhe40 TG TGG 6: 108,641,818 (GRCm39) 254 probably null Het
Cacna1e T C 1: 154,347,162 (GRCm39) K1064E probably benign Het
Capn11 T A 17: 45,944,891 (GRCm39) I459F probably damaging Het
Ccnc A G 4: 21,732,220 (GRCm39) I48V probably damaging Het
Ces1d T A 8: 93,904,667 (GRCm39) I358F probably benign Het
Clgn A T 8: 84,147,185 (GRCm39) N379I probably damaging Het
Cym T C 3: 107,121,548 (GRCm39) Y248C probably damaging Het
Epha8 T C 4: 136,666,100 (GRCm39) D352G possibly damaging Het
Eya2 T C 2: 165,558,050 (GRCm39) probably null Het
Fam219a A C 4: 41,569,208 (GRCm39) V10G probably benign Het
Fbxl5 C T 5: 43,978,891 (GRCm39) V20I probably benign Het
Fbxl9 A G 8: 106,042,388 (GRCm39) C147R probably benign Het
Fscb T C 12: 64,520,059 (GRCm39) E469G possibly damaging Het
Glt8d2 A T 10: 82,496,659 (GRCm39) probably null Het
Grep1 A T 17: 23,936,302 (GRCm39) F8L probably benign Het
Helt T C 8: 46,746,630 (GRCm39) probably benign Het
Igkv8-27 G T 6: 70,148,887 (GRCm39) T89K probably benign Het
Ipo5 T A 14: 121,183,567 (GRCm39) H1048Q probably benign Het
Kalrn T C 16: 34,212,464 (GRCm39) D28G probably damaging Het
Kcnh4 G A 11: 100,632,680 (GRCm39) P936S probably benign Het
Klrd1 A G 6: 129,570,701 (GRCm39) I37M possibly damaging Het
Kmt2e T C 5: 23,705,271 (GRCm39) V1267A probably damaging Het
Marchf1 A T 8: 66,920,965 (GRCm39) Q214L probably damaging Het
Mlip G T 9: 77,020,279 (GRCm39) H52N probably damaging Het
Oas1e T C 5: 120,927,021 (GRCm39) R229G probably benign Het
Ogfr T A 2: 180,234,300 (GRCm39) probably null Het
Or4g16 T C 2: 111,137,134 (GRCm39) F195L probably benign Het
Or5m10 T A 2: 85,717,482 (GRCm39) Y113N probably damaging Het
Pde4d T C 13: 110,087,541 (GRCm39) I636T probably benign Het
Pex5l C T 3: 33,008,625 (GRCm39) V426I probably damaging Het
Pmfbp1 A G 8: 110,252,006 (GRCm39) K384E possibly damaging Het
Pramel22 A T 4: 143,380,675 (GRCm39) Y449* probably null Het
Prl6a1 T G 13: 27,498,221 (GRCm39) probably null Het
Prss23 A T 7: 89,159,038 (GRCm39) W344R probably damaging Het
Ptar1 T A 19: 23,697,680 (GRCm39) D397E probably benign Het
Qrsl1 G A 10: 43,752,513 (GRCm39) R437C probably damaging Het
Rab6a G T 7: 100,257,404 (GRCm39) probably benign Het
Samd14 C A 11: 94,912,239 (GRCm39) S205R probably benign Het
Sel1l3 T C 5: 53,343,326 (GRCm39) Y322C probably damaging Het
Slc30a5 A T 13: 100,940,480 (GRCm39) L669I probably benign Het
Ssc4d A G 5: 135,991,887 (GRCm39) L419P probably damaging Het
Top2a T C 11: 98,907,005 (GRCm39) D212G probably damaging Het
Trim39 A T 17: 36,571,807 (GRCm39) V317E probably damaging Het
Uncx G A 5: 139,530,261 (GRCm39) R113H probably damaging Het
Usp4 A G 9: 108,256,543 (GRCm39) S655G probably benign Het
Vmn2r114 C T 17: 23,510,000 (GRCm39) V827I probably benign Het
Vmn2r28 T A 7: 5,491,200 (GRCm39) N349I probably benign Het
Vmn2r3 A G 3: 64,182,770 (GRCm39) W310R possibly damaging Het
Xirp2 T C 2: 67,340,245 (GRCm39) W829R probably damaging Het
Zfp574 C A 7: 24,780,777 (GRCm39) H600N possibly damaging 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
IGL02799:Tbc1d2b APN 9 90,105,487 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCAGCAAGGTCTGGAAGTAGTC -3'
(R):5'- GCTTCATGGTCTGAATAGGTCC -3'

Sequencing Primer
(F):5'- GAAGTAGTCTGGCTCCATGC -3'
(R):5'- TTTGCCAAGACCATGCCG -3'
Posted On 2019-10-17