Incidental Mutation 'R0574:Tbc1d17'
ID 46572
Institutional Source Beutler Lab
Gene Symbol Tbc1d17
Ensembl Gene ENSMUSG00000038520
Gene Name TBC1 domain family, member 17
Synonyms
MMRRC Submission 038764-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R0574 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44490200-44498503 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 44492547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000033015] [ENSMUST00000047085] [ENSMUST00000118125] [ENSMUST00000145959] [ENSMUST00000207532] [ENSMUST00000207293]
AlphaFold Q8BYH7
Predicted Effect probably benign
Transcript: ENSMUST00000033015
SMART Domains Protein: ENSMUSP00000033015
Gene: ENSMUSG00000074141

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:AlaDh_PNT_C 42 93 1.3e-9 PFAM
Pfam:Thi4 53 100 1.8e-8 PFAM
Pfam:FAD_binding_3 59 94 1.4e-7 PFAM
Pfam:HI0933_like 59 161 1.3e-8 PFAM
Pfam:FAD_binding_2 60 100 1.5e-8 PFAM
Pfam:Pyr_redox 60 100 1.9e-8 PFAM
Pfam:Pyr_redox_2 60 125 7.3e-8 PFAM
Pfam:DAO 60 140 2.8e-9 PFAM
Pfam:NAD_binding_8 63 130 3.6e-17 PFAM
Pfam:Amino_oxidase 68 503 9.9e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047085
SMART Domains Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520

DomainStartEndE-ValueType
Pfam:DUF3548 3 217 8.2e-93 PFAM
low complexity region 249 259 N/A INTRINSIC
TBC 307 545 3.93e-54 SMART
Blast:TBC 554 594 1e-6 BLAST
low complexity region 597 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118125
SMART Domains Protein: ENSMUSP00000113726
Gene: ENSMUSG00000074141

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:AlaDh_PNT_C 47 111 6.6e-9 PFAM
Pfam:Pyr_redox_2 47 111 2e-9 PFAM
Pfam:HI0933_like 67 169 1.8e-8 PFAM
Pfam:FAD_binding_2 68 108 5e-8 PFAM
Pfam:Pyr_redox 68 109 8.5e-8 PFAM
Pfam:DAO 68 159 5.6e-8 PFAM
Pfam:NAD_binding_8 71 138 1.2e-15 PFAM
Pfam:Amino_oxidase 76 511 5.9e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130081
Predicted Effect probably benign
Transcript: ENSMUST00000133279
SMART Domains Protein: ENSMUSP00000133613
Gene: ENSMUSG00000074141

DomainStartEndE-ValueType
PDB:1TDO|A 2 44 1e-8 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000145959
SMART Domains Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520

DomainStartEndE-ValueType
Pfam:DUF3548 3 217 5.8e-93 PFAM
low complexity region 249 259 N/A INTRINSIC
TBC 307 544 3.91e-40 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139947
Predicted Effect probably benign
Transcript: ENSMUST00000208714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153161
Predicted Effect probably benign
Transcript: ENSMUST00000208890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142098
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149921
Predicted Effect probably benign
Transcript: ENSMUST00000207532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149686
Predicted Effect probably benign
Transcript: ENSMUST00000207293
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700099C18Rik T C 17: 95,068,919 (GRCm39) noncoding transcript Het
Abca14 A G 7: 119,823,720 (GRCm39) I416V probably damaging Het
Actrt3 T C 3: 30,653,829 (GRCm39) E57G probably benign Het
Adamts5 A G 16: 85,696,372 (GRCm39) S262P probably damaging Het
Aldh1a2 T C 9: 71,188,990 (GRCm39) probably null Het
Arhgap29 A G 3: 121,801,274 (GRCm39) I670V probably benign Het
Bptf T C 11: 106,967,353 (GRCm39) D1009G probably damaging Het
Ddr2 G T 1: 169,809,532 (GRCm39) probably benign Het
Ift140 T A 17: 25,270,734 (GRCm39) probably null Het
Itga1 A C 13: 115,103,097 (GRCm39) S1111R probably damaging Het
Klk1b27 T A 7: 43,705,525 (GRCm39) L199Q probably damaging Het
Lhx3 T C 2: 26,091,323 (GRCm39) S329G probably benign Het
Man2b1 T G 8: 85,823,405 (GRCm39) M913R probably benign Het
Mmp15 G A 8: 96,092,029 (GRCm39) A80T possibly damaging Het
Mpo A T 11: 87,686,902 (GRCm39) Y177F probably damaging Het
Mynn T C 3: 30,670,888 (GRCm39) S587P probably benign Het
Nfkbib C T 7: 28,461,213 (GRCm39) V145I probably benign Het
Or1o3 G T 17: 37,573,772 (GRCm39) S261Y probably damaging Het
Or4k15 A T 14: 50,364,139 (GRCm39) Y35F probably damaging Het
Or6k8-ps1 T C 1: 173,979,132 (GRCm39) F17L probably benign Het
Pole2 G A 12: 69,258,231 (GRCm39) probably benign Het
Ppargc1b C T 18: 61,435,810 (GRCm39) G906D probably benign Het
Prl8a2 T A 13: 27,532,883 (GRCm39) C32S probably damaging Het
Rhno1 A T 6: 128,335,113 (GRCm39) probably null Het
Rprd2 T C 3: 95,681,669 (GRCm39) E408G possibly damaging Het
Ryr2 T A 13: 11,746,555 (GRCm39) H1999L probably benign Het
Shprh T C 10: 11,038,821 (GRCm39) probably benign Het
Snx3 T A 10: 42,378,383 (GRCm39) N19K probably benign Het
Stx8 C T 11: 67,864,078 (GRCm39) T46M probably damaging Het
Ush1c A G 7: 45,846,228 (GRCm39) S855P possibly damaging Het
Usp54 A G 14: 20,606,322 (GRCm39) V1338A probably benign Het
Vmn1r214 A G 13: 23,218,663 (GRCm39) I52M probably benign Het
Other mutations in Tbc1d17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Tbc1d17 APN 7 44,492,509 (GRCm39) missense probably benign 0.00
IGL00791:Tbc1d17 APN 7 44,494,737 (GRCm39) missense probably benign 0.04
IGL01865:Tbc1d17 APN 7 44,492,113 (GRCm39) missense possibly damaging 0.90
IGL02468:Tbc1d17 APN 7 44,497,753 (GRCm39) missense probably benign
IGL02829:Tbc1d17 APN 7 44,498,296 (GRCm39) unclassified probably benign
PIT4431001:Tbc1d17 UTSW 7 44,494,498 (GRCm39) missense probably benign
R0035:Tbc1d17 UTSW 7 44,490,832 (GRCm39) missense probably benign 0.09
R0035:Tbc1d17 UTSW 7 44,490,832 (GRCm39) missense probably benign 0.09
R0066:Tbc1d17 UTSW 7 44,493,495 (GRCm39) unclassified probably benign
R0066:Tbc1d17 UTSW 7 44,493,495 (GRCm39) unclassified probably benign
R0414:Tbc1d17 UTSW 7 44,495,483 (GRCm39) missense probably benign 0.00
R0626:Tbc1d17 UTSW 7 44,492,509 (GRCm39) missense probably benign 0.00
R0960:Tbc1d17 UTSW 7 44,497,852 (GRCm39) splice site probably benign
R1203:Tbc1d17 UTSW 7 44,492,895 (GRCm39) missense probably damaging 1.00
R1244:Tbc1d17 UTSW 7 44,493,822 (GRCm39) missense probably damaging 0.99
R1730:Tbc1d17 UTSW 7 44,494,555 (GRCm39) missense probably damaging 0.99
R1783:Tbc1d17 UTSW 7 44,494,555 (GRCm39) missense probably damaging 0.99
R1899:Tbc1d17 UTSW 7 44,491,057 (GRCm39) unclassified probably benign
R1953:Tbc1d17 UTSW 7 44,490,822 (GRCm39) splice site probably null
R2106:Tbc1d17 UTSW 7 44,497,692 (GRCm39) critical splice donor site probably null
R3889:Tbc1d17 UTSW 7 44,495,362 (GRCm39) missense probably damaging 1.00
R4240:Tbc1d17 UTSW 7 44,496,250 (GRCm39) missense probably damaging 1.00
R4547:Tbc1d17 UTSW 7 44,490,771 (GRCm39) missense probably benign
R4787:Tbc1d17 UTSW 7 44,492,488 (GRCm39) missense probably benign 0.02
R5422:Tbc1d17 UTSW 7 44,498,292 (GRCm39) start codon destroyed probably null 0.98
R5569:Tbc1d17 UTSW 7 44,497,755 (GRCm39) missense probably damaging 1.00
R5933:Tbc1d17 UTSW 7 44,494,761 (GRCm39) missense probably damaging 0.96
R6502:Tbc1d17 UTSW 7 44,491,049 (GRCm39) missense probably benign 0.30
R6838:Tbc1d17 UTSW 7 44,493,738 (GRCm39) missense probably damaging 0.97
R7543:Tbc1d17 UTSW 7 44,495,503 (GRCm39) missense probably benign 0.00
R8118:Tbc1d17 UTSW 7 44,492,426 (GRCm39) missense probably benign 0.10
R8899:Tbc1d17 UTSW 7 44,492,328 (GRCm39) missense probably damaging 1.00
R9391:Tbc1d17 UTSW 7 44,494,683 (GRCm39) missense probably damaging 1.00
R9776:Tbc1d17 UTSW 7 44,490,696 (GRCm39) missense probably damaging 1.00
Z1177:Tbc1d17 UTSW 7 44,492,095 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCACTCATACCCTGAACGTAGCCTG -3'
(R):5'- TGCATGGATACCGAAGCCTCATTG -3'

Sequencing Primer
(F):5'- CGTAGCCTGAGGGAACAC -3'
(R):5'- AGATTGGGTGGCCTTACCTC -3'
Posted On 2013-06-11