Incidental Mutation 'R5897:Tbc1d8'
ID 457566
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 044096-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5897 (G1)
Quality Score 205
Status Not validated
Chromosome 1
Chromosomal Location 39410573-39517836 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39431190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 394 (V394A)
Ref Sequence ENSEMBL: ENSMUSP00000141750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054462] [ENSMUST00000192531] [ENSMUST00000193823]
AlphaFold Q9Z1A9
Predicted Effect possibly damaging
Transcript: ENSMUST00000054462
AA Change: V394A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000049967
Gene: ENSMUSG00000003134
AA Change: V394A

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: V394A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141750
Gene: ENSMUSG00000003134
AA Change: V394A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195854
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.0%
  • 20x: 90.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,425,032 (GRCm39) T489A possibly damaging Het
Adam3 T C 8: 25,187,244 (GRCm39) T416A probably benign Het
Agbl3 A G 6: 34,780,508 (GRCm39) I494V probably benign Het
Akap9 T C 5: 4,127,904 (GRCm39) S3747P probably benign Het
Arhgef18 G T 8: 3,489,682 (GRCm39) R338L probably damaging Het
Atg16l1 G T 1: 87,713,719 (GRCm39) probably null Het
BC024139 A G 15: 76,010,339 (GRCm39) S56P possibly damaging Het
Ccdc121 T C 5: 31,643,308 (GRCm39) probably benign Het
Ccdc175 T A 12: 72,206,578 (GRCm39) I223L probably benign Het
Cdcp3 A T 7: 130,798,280 (GRCm39) probably null Het
Cep76 T A 18: 67,771,398 (GRCm39) Q78L probably benign Het
Cyp20a1 A C 1: 60,392,220 (GRCm39) N92T probably damaging Het
Cyp2c68 T C 19: 39,700,975 (GRCm39) D281G probably benign Het
Cyp2j12 T C 4: 95,990,279 (GRCm39) N429S probably damaging Het
Dchs2 G A 3: 83,192,717 (GRCm39) V1721I possibly damaging Het
Elovl4 G A 9: 83,672,157 (GRCm39) T54M possibly damaging Het
Fam13b A G 18: 34,587,134 (GRCm39) V542A possibly damaging Het
Gje1 A T 10: 14,592,467 (GRCm39) I105N probably damaging Het
Grm4 G T 17: 27,654,137 (GRCm39) F349L probably benign Het
Hsd17b3 A G 13: 64,236,799 (GRCm39) probably null Het
Khdrbs1 A T 4: 129,614,448 (GRCm39) D368E probably benign Het
Klra10 T A 6: 130,258,792 (GRCm39) R32* probably null Het
Lrrc7 T A 3: 157,869,990 (GRCm39) I644F probably damaging Het
Or2i1 A T 17: 37,508,151 (GRCm39) L161Q probably damaging Het
Or2t1 G T 14: 14,328,120 (GRCm38) G3V probably benign Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Pbx3 A T 2: 34,261,920 (GRCm39) S5T probably benign Het
Pcdhb13 T A 18: 37,576,264 (GRCm39) V214E probably benign Het
Pkd1l1 T C 11: 8,829,176 (GRCm39) D1022G probably benign Het
Pla2g4a T A 1: 149,740,899 (GRCm39) K380I probably damaging Het
Prl3b1 A G 13: 27,429,858 (GRCm39) T99A probably benign Het
Prr12 C T 7: 44,692,808 (GRCm39) V1575I probably damaging Het
Ptpn5 C T 7: 46,729,262 (GRCm39) V451I probably benign Het
Rab1a C T 11: 20,168,867 (GRCm39) R51* probably null Het
Skint9 A G 4: 112,271,113 (GRCm39) I99T possibly damaging Het
Tcf20 A T 15: 82,735,984 (GRCm39) C1822* probably null Het
Tdrd6 T A 17: 43,935,768 (GRCm39) D1760V probably damaging Het
Tinag C A 9: 76,952,726 (GRCm39) C86F probably damaging Het
Tmtc2 A T 10: 105,249,459 (GRCm39) N91K probably damaging Het
Tmub1 G A 5: 24,651,925 (GRCm39) T13M probably benign Het
Txn2 G A 15: 77,808,726 (GRCm39) A135V probably benign Het
Ush2a G A 1: 188,553,935 (GRCm39) G3475R probably damaging Het
Usp38 T C 8: 81,732,082 (GRCm39) D276G probably benign Het
Vax1 T A 19: 59,158,233 (GRCm39) I77F unknown Het
Vmn2r108 C T 17: 20,691,580 (GRCm39) M314I probably benign Het
Vmn2r4 C A 3: 64,322,687 (GRCm39) G11* probably null Het
Zcchc14 T C 8: 122,331,899 (GRCm39) 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
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
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
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'- TGACATCACACTAATGCACGG -3'
(R):5'- ATGATCACACACCTGCCAGG -3'

Sequencing Primer
(F):5'- TAATGCACGGCCCAGCC -3'
(R):5'- GCCAGGCTCCTGTCTTG -3'
Posted On 2017-02-15