Incidental Mutation 'R2437:Tbc1d8'
ID 249613
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 040398-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2437 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 39410573-39517836 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 39444368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054462] [ENSMUST00000192531] [ENSMUST00000193823]
AlphaFold Q9Z1A9
Predicted Effect probably null
Transcript: ENSMUST00000054462
SMART Domains Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134

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 probably null
Transcript: ENSMUST00000193823
SMART Domains Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik A G 4: 148,031,075 (GRCm39) *635W probably null Het
Anxa2 A G 9: 69,397,046 (GRCm39) Y317C probably damaging Het
Arhgef26 T C 3: 62,340,002 (GRCm39) S675P probably damaging Het
Bltp1 T A 3: 37,012,834 (GRCm39) probably null Het
Camk2d A G 3: 126,628,277 (GRCm39) N53S probably damaging Het
Carns1 A T 19: 4,215,782 (GRCm39) M800K possibly damaging Het
Ces1f A T 8: 93,996,767 (GRCm39) probably null Het
Chrne T A 11: 70,506,086 (GRCm39) D426V possibly damaging Het
Cntfr T C 4: 41,671,035 (GRCm39) T43A probably damaging Het
Cntn5 A T 9: 10,048,758 (GRCm39) C63* probably null Het
Col12a1 G A 9: 79,599,501 (GRCm39) T884I probably damaging Het
Dnah5 T C 15: 28,307,537 (GRCm39) probably null Het
Dnajc2 A T 5: 21,965,389 (GRCm39) S537R probably benign Het
Dnajc25 T C 4: 59,020,234 (GRCm39) I100T probably damaging Het
Ephx1 C A 1: 180,823,661 (GRCm39) G149C probably damaging Het
Fam163b G T 2: 27,002,698 (GRCm39) P100T probably damaging Het
Fbxl9 A G 8: 106,039,675 (GRCm39) probably null Het
Fgd5 A T 6: 92,039,850 (GRCm39) R1017* probably null Het
Fibin A T 2: 110,192,848 (GRCm39) L98Q probably damaging Het
Fndc3b A T 3: 27,505,481 (GRCm39) L929H probably damaging Het
Frem1 T A 4: 82,918,410 (GRCm39) S512C probably damaging Het
Gm4922 T A 10: 18,659,829 (GRCm39) M298L probably benign Het
Gstm2 G A 3: 107,891,369 (GRCm39) probably benign Het
Gtf3c2 A G 5: 31,317,042 (GRCm39) probably null Het
Ibtk A C 9: 85,590,178 (GRCm39) L1026V probably benign Het
Il9 T A 13: 56,629,684 (GRCm39) probably benign Het
Inpp4a T C 1: 37,432,037 (GRCm39) S146P probably damaging Het
Kcnab1 G T 3: 65,264,435 (GRCm39) probably benign Het
Mgat4c T C 10: 102,224,436 (GRCm39) S217P probably damaging Het
Mr1 T C 1: 155,008,277 (GRCm39) M233V probably benign Het
Ncoa2 G A 1: 13,218,584 (GRCm39) T1415I probably damaging Het
Oasl2 G A 5: 115,049,357 (GRCm39) D486N probably benign Het
Or1j14 A T 2: 36,418,258 (GRCm39) Y278F probably damaging Het
Or9a7 G A 6: 40,521,856 (GRCm39) T19I probably benign Het
Or9s27 T C 1: 92,516,688 (GRCm39) I212T possibly damaging Het
Pcnx4 T C 12: 72,588,587 (GRCm39) F132L probably damaging Het
Pde5a T A 3: 122,636,702 (GRCm39) L717Q probably damaging Het
Peli2 A T 14: 48,465,389 (GRCm39) probably benign Het
Phf14 A G 6: 11,962,657 (GRCm39) S435G probably damaging Het
Plekhg1 T A 10: 3,913,564 (GRCm39) H1095Q probably damaging Het
Plekhh2 A G 17: 84,893,907 (GRCm39) probably null Het
Plekho1 T G 3: 95,899,497 (GRCm39) N99H probably damaging Het
Plxnc1 T A 10: 94,742,395 (GRCm39) K457N probably benign Het
Ppp1r3a T C 6: 14,718,322 (GRCm39) E864G probably benign Het
Prkab2 T A 3: 97,574,715 (GRCm39) L237Q probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptger3 T A 3: 157,273,207 (GRCm39) C185S probably damaging Het
Ptprk T C 10: 28,230,709 (GRCm39) Y267H probably damaging Het
Pum2 A G 12: 8,794,654 (GRCm39) I715V probably benign Het
R3hdm1 T C 1: 128,114,573 (GRCm39) V518A probably damaging Het
Rab3d T C 9: 21,827,147 (GRCm39) I28V probably damaging Het
Rad54b T C 4: 11,606,272 (GRCm39) L560P probably damaging Het
Rgs20 A G 1: 5,140,370 (GRCm39) probably null Het
Sesn1 T A 10: 41,781,315 (GRCm39) L460H probably damaging Het
Slc39a14 A G 14: 70,553,885 (GRCm39) probably null Het
Slco6c1 T A 1: 96,990,201 (GRCm39) H663L probably benign Het
Snx13 T A 12: 35,132,926 (GRCm39) C63S probably benign Het
Spmip4 T A 6: 50,560,959 (GRCm39) D212V probably damaging Het
Strip2 T C 6: 29,941,940 (GRCm39) probably null Het
Syncrip A G 9: 88,361,620 (GRCm39) probably benign Het
Taf15 A G 11: 83,395,579 (GRCm39) probably benign Het
Tgm4 T A 9: 122,877,614 (GRCm39) C205* probably null Het
Tmem212 A T 3: 27,940,628 (GRCm39) L63Q possibly damaging Het
Tmem63a G A 1: 180,790,054 (GRCm39) probably null Het
Trpm5 C A 7: 142,636,298 (GRCm39) V525L probably benign Het
Ttn A G 2: 76,537,171 (GRCm39) L34919P probably damaging Het
Ttn T C 2: 76,694,619 (GRCm39) probably benign Het
Tuba4a T C 1: 75,194,069 (GRCm39) I4V possibly damaging Het
Ubr4 A G 4: 139,200,853 (GRCm39) D4679G possibly damaging Het
Usp2 T G 9: 44,003,445 (GRCm39) V448G probably damaging Het
Usp3 A G 9: 66,453,024 (GRCm39) probably null Het
Zfp341 T A 2: 154,470,721 (GRCm39) V246E probably damaging 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
R1710:Tbc1d8 UTSW 1 39,445,918 (GRCm39) missense possibly damaging 0.89
R2419:Tbc1d8 UTSW 1 39,415,983 (GRCm39) missense probably damaging 1.00
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'- CTCCTTGGAGAAGCAGCCTATG -3'
(R):5'- AAGTGTCTTTCTGTCCTCAGGC -3'

Sequencing Primer
(F):5'- GCAGCCTATGTAATTAAGCAAAAGTG -3'
(R):5'- TCTGATCGCAGAGGAGACC -3'
Posted On 2014-11-12