Incidental Mutation 'R5189:Tbc1d8'
ID 405041
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 042767-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5189 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 39410573-39517836 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 39424213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 626 (H626R)
Ref Sequence ENSEMBL: ENSMUSP00000141750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054462] [ENSMUST00000192531] [ENSMUST00000193823]
AlphaFold Q9Z1A9
Predicted Effect probably benign
Transcript: ENSMUST00000054462
AA Change: H626R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: H626R

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 benign
Transcript: ENSMUST00000193823
AA Change: H626R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: H626R

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik C T 12: 71,240,123 (GRCm39) T1311I possibly damaging Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4930505A04Rik T C 11: 30,376,169 (GRCm39) T233A probably damaging Het
Ankar T C 1: 72,697,573 (GRCm39) I859V probably benign Het
Cacnb2 G T 2: 14,990,849 (GRCm39) A644S possibly damaging Het
Gatb T C 3: 85,544,238 (GRCm39) V402A probably benign Het
Gpcpd1 T C 2: 132,395,892 (GRCm39) K153R probably damaging Het
Hip1 A G 5: 135,463,147 (GRCm39) L60S probably damaging Het
Hsf4 GCAGCACCGGGTCA G 8: 105,998,060 (GRCm39) probably null Het
Hydin A T 8: 111,139,843 (GRCm39) probably null Het
Igsf3 A T 3: 101,338,843 (GRCm39) T386S possibly damaging Het
Il12rb1 A G 8: 71,263,702 (GRCm39) T88A possibly damaging Het
Kank1 T C 19: 25,401,545 (GRCm39) S1051P probably damaging Het
Kap A G 6: 133,828,879 (GRCm39) probably null Het
Ly96 A G 1: 16,771,091 (GRCm39) E74G probably damaging Het
Map7d1 G T 4: 126,136,097 (GRCm39) probably null Het
Megf6 G T 4: 154,336,980 (GRCm39) R253L probably benign Het
Mex3b A G 7: 82,518,459 (GRCm39) D258G probably damaging Het
Mpzl3 T C 9: 44,973,408 (GRCm39) I49T possibly damaging Het
Myh15 C A 16: 48,921,870 (GRCm39) T472N probably benign Het
Nacad A G 11: 6,551,611 (GRCm39) S527P probably damaging Het
Nkx2-3 T G 19: 43,601,147 (GRCm39) S70A probably benign Het
Nkx2-6 A T 14: 69,409,342 (GRCm39) Q31L probably benign Het
Or6ae1 A G 7: 139,742,632 (GRCm39) V77A probably damaging Het
Pcdha6 A T 18: 37,101,844 (GRCm39) N346Y probably damaging Het
Pkd2 G A 5: 104,607,785 (GRCm39) D95N probably benign Het
Pkhd1l1 A G 15: 44,410,544 (GRCm39) T2684A probably damaging Het
Plin2 A G 4: 86,575,383 (GRCm39) Y389H probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc41a2 T C 10: 83,149,275 (GRCm39) probably null Het
Smg6 A G 11: 74,932,822 (GRCm39) T1038A probably damaging Het
Suds3 T C 5: 117,238,664 (GRCm39) probably benign Het
Tmem260 T A 14: 48,746,573 (GRCm39) H616Q probably benign Het
Trip10 A T 17: 57,568,288 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 A G 4: 139,137,960 (GRCm39) T1106A probably benign Het
Vmn1r84 A T 7: 12,096,385 (GRCm39) S103T probably benign Het
Vps13a G T 19: 16,662,679 (GRCm39) P1602Q 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
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
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'- TGGTACGACAAGAGAGGATTTC -3'
(R):5'- TCAAACGCAGGGCTTTTCC -3'

Sequencing Primer
(F):5'- GGATTTCCCTAAGTTAAAAGTGTGTG -3'
(R):5'- GGCTTTTCCCGTGCGTGC -3'
Posted On 2016-07-22