Incidental Mutation 'R1710:Tbc1d8'
ID 190383
Institutional Source Beutler Lab
Gene Symbol Tbc1d8
Ensembl Gene ENSMUSG00000003134
Gene Name TBC1 domain family, member 8
Synonyms GRAM domain, BUB2-like protein 1, HBLP1, AD3
MMRRC Submission 039743-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1710 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 39410573-39517836 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39445918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 91 (D91G)
Ref Sequence ENSEMBL: ENSMUSP00000049967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054462] [ENSMUST00000192531] [ENSMUST00000193823]
AlphaFold Q9Z1A9
Predicted Effect possibly damaging
Transcript: ENSMUST00000054462
AA Change: D91G

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: D91G

DomainStartEndE-ValueType
low complexity region 28 49 N/A INTRINSIC
GRAM 145 212 3.6e-20 SMART
GRAM 285 353 2.77e-21 SMART
TBC 501 714 4.51e-54 SMART
Blast:TBC 726 923 1e-120 BLAST
coiled coil region 960 991 N/A INTRINSIC
low complexity region 1030 1045 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000192531
SMART Domains Protein: ENSMUSP00000142143
Gene: ENSMUSG00000003134

DomainStartEndE-ValueType
low complexity region 28 49 N/A INTRINSIC
low complexity region 80 98 N/A INTRINSIC
low complexity region 144 152 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000193823
AA Change: D91G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: D91G

DomainStartEndE-ValueType
low complexity region 28 49 N/A INTRINSIC
GRAM 145 212 1.2e-22 SMART
GRAM 285 353 9.6e-24 SMART
TBC 501 714 2.2e-56 SMART
Blast:TBC 726 923 1e-120 BLAST
coiled coil region 960 990 N/A INTRINSIC
Meta Mutation Damage Score 0.1480 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (117/120)
Allele List at MGI
Other mutations in this stock
Total: 114 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik A T 18: 70,601,134 (GRCm39) S249R possibly damaging Het
Acadvl T A 11: 69,901,181 (GRCm39) I638F probably damaging Het
Acnat2 T A 4: 49,380,587 (GRCm39) T264S probably benign Het
Acrv1 C T 9: 36,605,551 (GRCm39) Q33* probably null Het
Actrt3 T A 3: 30,653,901 (GRCm39) N33I probably damaging Het
Alyref2 T C 1: 171,331,168 (GRCm39) probably benign Het
Ank2 C A 3: 126,726,709 (GRCm39) E3712* probably null Het
Ano7 C A 1: 93,313,346 (GRCm39) H161Q probably benign Het
Arhgap10 C A 8: 78,085,216 (GRCm39) E451* probably null Het
Arhgap29 T A 3: 121,801,729 (GRCm39) Y748N probably damaging Het
Arhgap45 C T 10: 79,853,932 (GRCm39) Q149* probably null Het
Asap2 C T 12: 21,274,393 (GRCm39) H371Y probably damaging Het
Atp6v1b1 T C 6: 83,735,372 (GRCm39) I480T probably benign Het
BC034090 T C 1: 155,101,610 (GRCm39) D218G possibly damaging Het
Brdt A T 5: 107,491,450 (GRCm39) D74V probably damaging Het
C4b A G 17: 34,962,638 (GRCm39) probably benign Het
Card11 T A 5: 140,888,660 (GRCm39) K233* probably null Het
Catip T G 1: 74,401,929 (GRCm39) F35V possibly damaging Het
Ccdc13 C T 9: 121,648,647 (GRCm39) G247R probably damaging Het
Cep97 T A 16: 55,735,385 (GRCm39) D471V probably damaging Het
Col17a1 A T 19: 47,659,370 (GRCm39) L403Q probably damaging Het
Crbn A G 6: 106,767,906 (GRCm39) S194P possibly damaging Het
Degs1l A G 1: 180,878,884 (GRCm39) M1V probably null Het
Dennd10 A G 19: 60,806,021 (GRCm39) Y102C probably damaging Het
Dhx58 T A 11: 100,594,400 (GRCm39) H97L probably benign Het
Dnah8 T C 17: 31,073,914 (GRCm39) I4528T probably damaging Het
Dpyd A G 3: 118,404,092 (GRCm39) probably null Het
Entpd1 A T 19: 40,714,680 (GRCm39) Q263L probably benign Het
Entrep1 A T 19: 23,957,059 (GRCm39) I317N probably damaging Het
Esyt3 T C 9: 99,218,244 (GRCm39) I130M probably benign Het
Etv1 T C 12: 38,902,261 (GRCm39) F264S probably benign Het
Fat1 T C 8: 45,463,519 (GRCm39) S1354P probably benign Het
Fat4 C A 3: 39,005,304 (GRCm39) T1901N probably damaging Het
Fbxw13 C T 9: 109,010,586 (GRCm39) V351I probably damaging Het
Fmo3 A G 1: 162,795,356 (GRCm39) F160L possibly damaging Het
Fyb2 T A 4: 104,861,113 (GRCm39) D592E probably damaging Het
Gjb4 T C 4: 127,245,663 (GRCm39) M93V possibly damaging Het
Gm5089 C A 14: 122,673,566 (GRCm39) G52* probably null Het
Gm6401 G T 14: 41,788,840 (GRCm39) N76K probably benign Het
Gm6871 A G 7: 41,195,901 (GRCm39) S279P probably damaging Het
Gtf2ird2 T G 5: 134,240,081 (GRCm39) V301G probably benign Het
H2bw2 A C X: 135,828,216 (GRCm39) D35A unknown Het
Hfm1 A G 5: 107,028,380 (GRCm39) F817L probably damaging Het
Hfm1 T C 5: 107,043,869 (GRCm39) E589G probably damaging Het
Hivep2 A T 10: 14,005,249 (GRCm39) K616* probably null Het
Hmcn1 A T 1: 150,551,735 (GRCm39) I2623N probably damaging Het
Igf2bp3 G T 6: 49,082,565 (GRCm39) A339E probably damaging Het
Insyn2b T A 11: 34,354,263 (GRCm39) probably null Het
Irx4 T C 13: 73,415,757 (GRCm39) I182T possibly damaging Het
Jcad T C 18: 4,674,511 (GRCm39) S758P probably damaging Het
Klhdc4 A T 8: 122,526,226 (GRCm39) Y304* probably null Het
Lama1 A G 17: 68,060,786 (GRCm39) I705V probably benign Het
Mbd5 A G 2: 49,147,044 (GRCm39) N418S probably benign Het
Mmp21 C T 7: 133,279,014 (GRCm39) V279I probably damaging Het
Morc4 A C X: 138,755,279 (GRCm39) C272W probably damaging Het
Mrm1 A T 11: 84,709,518 (GRCm39) C180S probably damaging Het
Ncor1 T C 11: 62,313,831 (GRCm39) D103G probably damaging Het
Ndrg4 A G 8: 96,437,314 (GRCm39) D251G probably damaging Het
Ndufaf5 T C 2: 140,035,522 (GRCm39) V246A possibly damaging Het
Noa1 T C 5: 77,457,572 (GRCm39) E111G possibly damaging Het
Nod1 C A 6: 54,921,044 (GRCm39) V425F probably damaging Het
Nos1 A T 5: 118,033,984 (GRCm39) I369F probably damaging Het
Nsun5 C T 5: 135,400,170 (GRCm39) H98Y probably damaging Het
Optn G A 2: 5,057,941 (GRCm39) T76I possibly damaging Het
Or14c39 G A 7: 86,344,318 (GRCm39) R218H probably benign Het
Or4k15c C G 14: 50,321,827 (GRCm39) V104L probably benign Het
Or5k1b A G 16: 58,581,504 (GRCm39) F12L probably benign Het
Or8d1b A G 9: 38,887,202 (GRCm39) I77V probably damaging Het
Or8g28 T C 9: 39,169,867 (GRCm39) I37V probably benign Het
Or9g19 C T 2: 85,600,199 (GRCm39) T18I probably benign Het
Oscar C T 7: 3,614,855 (GRCm39) W22* probably null Het
Palmd T A 3: 116,717,306 (GRCm39) Y397F probably damaging Het
Plk1 A G 7: 121,768,121 (GRCm39) D447G probably damaging Het
Plscr5 T A 9: 92,087,581 (GRCm39) N183K probably damaging Het
Polk T G 13: 96,625,712 (GRCm39) D364A probably damaging Het
Polr3d T C 14: 70,680,450 (GRCm39) T36A probably benign Het
Ppp1r10 A T 17: 36,237,428 (GRCm39) R199S probably damaging Het
Prkcz C T 4: 155,346,969 (GRCm39) D388N probably damaging Het
Prrc2b T C 2: 32,102,234 (GRCm39) L769P probably damaging Het
Psg26 A G 7: 18,213,966 (GRCm39) V232A probably damaging Het
Pth2r T C 1: 65,375,997 (GRCm39) V85A possibly damaging Het
Rbpms2 T C 9: 65,566,494 (GRCm39) probably benign Het
Reps1 A T 10: 17,994,698 (GRCm39) D514V possibly damaging Het
Riok3 G T 18: 12,276,018 (GRCm39) R238L probably benign Het
Rnf19a T C 15: 36,244,353 (GRCm39) Q569R probably damaging Het
Rorb G A 19: 18,937,865 (GRCm39) T267I probably damaging Het
Rrm2b A T 15: 37,929,340 (GRCm39) M70K probably damaging Het
Rsf1 A T 7: 97,311,556 (GRCm39) E762V possibly damaging Het
S100a2 G A 3: 90,498,699 (GRCm39) V67I probably benign Het
Skp1 T A 11: 52,133,442 (GRCm39) D42E probably benign Het
Slc22a4 A T 11: 53,918,801 (GRCm39) M1K probably null Het
Slc2a9 T A 5: 38,539,387 (GRCm39) Q371L probably damaging Het
Slc4a9 A G 18: 36,665,075 (GRCm39) T475A probably benign Het
Slc8b1 A G 5: 120,657,717 (GRCm39) N60S probably damaging Het
Slx4 A C 16: 3,817,022 (GRCm39) D66E probably benign Het
Smg8 A T 11: 86,977,113 (GRCm39) I156N probably damaging Het
Snx25 A T 8: 46,569,244 (GRCm39) C218S possibly damaging Het
Sulf2 T C 2: 165,920,992 (GRCm39) I784V probably benign Het
Tatdn2 G T 6: 113,674,888 (GRCm39) R72L possibly damaging Het
Tifab C A 13: 56,324,433 (GRCm39) R3S probably benign Het
Tm4sf1 A T 3: 57,200,304 (GRCm39) S104T probably damaging Het
Tmem132e T A 11: 82,334,343 (GRCm39) I618N probably damaging Het
Ttc7b A T 12: 100,369,667 (GRCm39) D367E probably damaging Het
Txlnb A G 10: 17,719,203 (GRCm39) D678G possibly damaging Het
Vgll4 A G 6: 114,934,895 (GRCm39) probably null Het
Vmn2r124 A T 17: 18,282,187 (GRCm39) probably benign Het
Vmn2r2 T C 3: 64,024,820 (GRCm39) D587G probably benign Het
Vmn2r84 G A 10: 130,226,968 (GRCm39) A290V probably benign Het
Vps13c T A 9: 67,818,811 (GRCm39) S1077R probably benign Het
Vsig10 C T 5: 117,489,719 (GRCm39) A495V probably benign Het
Vwa3a A T 7: 120,403,254 (GRCm39) probably null Het
Zfhx2 C A 14: 55,303,455 (GRCm39) A1510S possibly damaging Het
Zfp142 T A 1: 74,611,389 (GRCm39) D601V probably damaging Het
Zfp62 T C 11: 49,108,510 (GRCm39) I867T probably benign Het
Other mutations in Tbc1d8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Tbc1d8 APN 1 39,433,210 (GRCm39) missense probably damaging 0.96
IGL01501:Tbc1d8 APN 1 39,428,416 (GRCm39) missense probably damaging 1.00
IGL01548:Tbc1d8 APN 1 39,420,385 (GRCm39) missense probably damaging 0.96
IGL01884:Tbc1d8 APN 1 39,415,526 (GRCm39) missense probably damaging 1.00
IGL01919:Tbc1d8 APN 1 39,431,334 (GRCm39) missense probably damaging 1.00
IGL02123:Tbc1d8 APN 1 39,419,317 (GRCm39) missense probably damaging 0.98
IGL02123:Tbc1d8 APN 1 39,415,988 (GRCm39) missense possibly damaging 0.54
IGL02135:Tbc1d8 APN 1 39,441,891 (GRCm39) missense probably damaging 1.00
IGL02317:Tbc1d8 APN 1 39,415,985 (GRCm39) missense probably benign 0.00
IGL02325:Tbc1d8 APN 1 39,433,321 (GRCm39) missense probably damaging 0.99
IGL02607:Tbc1d8 APN 1 39,418,592 (GRCm39) missense probably benign 0.05
R0533:Tbc1d8 UTSW 1 39,411,855 (GRCm39) missense possibly damaging 0.82
R0604:Tbc1d8 UTSW 1 39,444,407 (GRCm39) missense probably damaging 1.00
R0612:Tbc1d8 UTSW 1 39,411,596 (GRCm39) missense possibly damaging 0.92
R0639:Tbc1d8 UTSW 1 39,430,290 (GRCm39) missense probably benign 0.00
R0976:Tbc1d8 UTSW 1 39,445,882 (GRCm39) missense probably damaging 1.00
R1051:Tbc1d8 UTSW 1 39,420,534 (GRCm39) nonsense probably null
R1605:Tbc1d8 UTSW 1 39,430,206 (GRCm39) missense probably benign 0.38
R1622:Tbc1d8 UTSW 1 39,419,317 (GRCm39) missense probably benign 0.00
R2419:Tbc1d8 UTSW 1 39,415,983 (GRCm39) missense probably damaging 1.00
R2437:Tbc1d8 UTSW 1 39,444,368 (GRCm39) splice site probably null
R2862:Tbc1d8 UTSW 1 39,441,777 (GRCm39) nonsense probably null
R2870:Tbc1d8 UTSW 1 39,444,398 (GRCm39) missense probably damaging 1.00
R2870:Tbc1d8 UTSW 1 39,444,398 (GRCm39) missense probably damaging 1.00
R2872:Tbc1d8 UTSW 1 39,444,398 (GRCm39) missense probably damaging 1.00
R2872:Tbc1d8 UTSW 1 39,444,398 (GRCm39) missense probably damaging 1.00
R2873:Tbc1d8 UTSW 1 39,444,398 (GRCm39) missense probably damaging 1.00
R2874:Tbc1d8 UTSW 1 39,444,398 (GRCm39) missense probably damaging 1.00
R3759:Tbc1d8 UTSW 1 39,415,546 (GRCm39) missense probably damaging 1.00
R4127:Tbc1d8 UTSW 1 39,411,512 (GRCm39) missense probably benign 0.05
R4154:Tbc1d8 UTSW 1 39,425,216 (GRCm39) missense probably damaging 0.99
R4613:Tbc1d8 UTSW 1 39,411,789 (GRCm39) missense probably damaging 0.98
R4737:Tbc1d8 UTSW 1 39,441,959 (GRCm39) missense possibly damaging 0.63
R4738:Tbc1d8 UTSW 1 39,441,959 (GRCm39) missense possibly damaging 0.63
R4739:Tbc1d8 UTSW 1 39,441,959 (GRCm39) missense possibly damaging 0.63
R4740:Tbc1d8 UTSW 1 39,441,959 (GRCm39) missense possibly damaging 0.63
R5189:Tbc1d8 UTSW 1 39,424,213 (GRCm39) missense probably benign 0.00
R5271:Tbc1d8 UTSW 1 39,412,848 (GRCm39) missense probably damaging 0.97
R5308:Tbc1d8 UTSW 1 39,428,490 (GRCm39) missense probably damaging 1.00
R5393:Tbc1d8 UTSW 1 39,465,169 (GRCm39) missense probably damaging 0.99
R5529:Tbc1d8 UTSW 1 39,411,836 (GRCm39) missense probably benign 0.42
R5897:Tbc1d8 UTSW 1 39,431,190 (GRCm39) missense possibly damaging 0.95
R6160:Tbc1d8 UTSW 1 39,411,484 (GRCm39) missense probably damaging 0.98
R6408:Tbc1d8 UTSW 1 39,441,980 (GRCm39) missense probably damaging 0.99
R6409:Tbc1d8 UTSW 1 39,411,669 (GRCm39) missense probably benign 0.00
R6554:Tbc1d8 UTSW 1 39,445,903 (GRCm39) missense probably damaging 1.00
R6841:Tbc1d8 UTSW 1 39,428,455 (GRCm39) missense possibly damaging 0.68
R7282:Tbc1d8 UTSW 1 39,411,614 (GRCm39) missense probably benign 0.00
R7294:Tbc1d8 UTSW 1 39,445,843 (GRCm39) missense probably damaging 1.00
R7384:Tbc1d8 UTSW 1 39,433,179 (GRCm39) missense probably benign 0.00
R7718:Tbc1d8 UTSW 1 39,416,061 (GRCm39) missense probably benign 0.00
R7881:Tbc1d8 UTSW 1 39,425,104 (GRCm39) missense probably damaging 0.98
R7918:Tbc1d8 UTSW 1 39,441,809 (GRCm39) missense probably damaging 1.00
R7972:Tbc1d8 UTSW 1 39,431,250 (GRCm39) missense probably damaging 1.00
R8269:Tbc1d8 UTSW 1 39,465,169 (GRCm39) missense probably benign 0.00
R8352:Tbc1d8 UTSW 1 39,444,438 (GRCm39) missense probably damaging 1.00
R8425:Tbc1d8 UTSW 1 39,420,490 (GRCm39) missense probably damaging 1.00
R8452:Tbc1d8 UTSW 1 39,444,438 (GRCm39) missense probably damaging 1.00
R9159:Tbc1d8 UTSW 1 39,444,474 (GRCm39) missense
R9712:Tbc1d8 UTSW 1 39,424,313 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTGACAGAGCATGTAGCCAAAGTG -3'
(R):5'- CAGGACTTTACAACAGGCTCTTCCAC -3'

Sequencing Primer
(F):5'- CCTTCACCTTCCCTTTGACAAAG -3'
(R):5'- GAACTTGGCCTTTCAGAGCAC -3'
Posted On 2014-05-14