Incidental Mutation 'IGL02468:Tbc1d17'
ID294625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbc1d17
Ensembl Gene ENSMUSG00000038520
Gene NameTBC1 domain family, member 17
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.202) question?
Stock #IGL02468
Quality Score
Status
Chromosome7
Chromosomal Location44834623-44849079 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44848329 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 40 (F40L)
Ref Sequence ENSEMBL: ENSMUSP00000146935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047085] [ENSMUST00000054343] [ENSMUST00000107880] [ENSMUST00000107882] [ENSMUST00000107885] [ENSMUST00000127783] [ENSMUST00000136232] [ENSMUST00000141311] [ENSMUST00000145959] [ENSMUST00000150335] [ENSMUST00000207223] [ENSMUST00000207293] [ENSMUST00000207532] [ENSMUST00000208384]
Predicted Effect probably benign
Transcript: ENSMUST00000047085
AA Change: F45L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048260
Gene: ENSMUSG00000038520
AA Change: F45L

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: ENSMUST00000054343
SMART Domains Protein: ENSMUSP00000049764
Gene: ENSMUSG00000011096

DomainStartEndE-ValueType
low complexity region 33 60 N/A INTRINSIC
low complexity region 66 101 N/A INTRINSIC
low complexity region 102 116 N/A INTRINSIC
low complexity region 161 180 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102096
Predicted Effect probably benign
Transcript: ENSMUST00000107880
SMART Domains Protein: ENSMUSP00000103512
Gene: ENSMUSG00000011096

DomainStartEndE-ValueType
low complexity region 33 60 N/A INTRINSIC
low complexity region 66 101 N/A INTRINSIC
low complexity region 102 116 N/A INTRINSIC
low complexity region 161 180 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107882
SMART Domains Protein: ENSMUSP00000103514
Gene: ENSMUSG00000011096

DomainStartEndE-ValueType
low complexity region 59 86 N/A INTRINSIC
low complexity region 92 127 N/A INTRINSIC
low complexity region 128 142 N/A INTRINSIC
low complexity region 187 206 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107885
SMART Domains Protein: ENSMUSP00000103517
Gene: ENSMUSG00000011096

DomainStartEndE-ValueType
low complexity region 104 131 N/A INTRINSIC
low complexity region 137 172 N/A INTRINSIC
low complexity region 173 187 N/A INTRINSIC
Pfam:PRAS 199 323 1.2e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127783
SMART Domains Protein: ENSMUSP00000116149
Gene: ENSMUSG00000011096

DomainStartEndE-ValueType
low complexity region 33 60 N/A INTRINSIC
low complexity region 66 101 N/A INTRINSIC
low complexity region 102 116 N/A INTRINSIC
Pfam:PRAS 134 247 1.3e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133846
Predicted Effect probably benign
Transcript: ENSMUST00000136232
SMART Domains Protein: ENSMUSP00000116541
Gene: ENSMUSG00000011096

DomainStartEndE-ValueType
low complexity region 33 60 N/A INTRINSIC
low complexity region 66 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139947
Predicted Effect probably benign
Transcript: ENSMUST00000141311
SMART Domains Protein: ENSMUSP00000120690
Gene: ENSMUSG00000011096

DomainStartEndE-ValueType
low complexity region 40 67 N/A INTRINSIC
low complexity region 73 108 N/A INTRINSIC
low complexity region 109 123 N/A INTRINSIC
low complexity region 168 187 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142098
Predicted Effect probably benign
Transcript: ENSMUST00000142880
Predicted Effect probably benign
Transcript: ENSMUST00000145959
AA Change: F45L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121546
Gene: ENSMUSG00000038520
AA Change: F45L

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: ENSMUST00000149921
Predicted Effect probably benign
Transcript: ENSMUST00000150335
SMART Domains Protein: ENSMUSP00000122607
Gene: ENSMUSG00000011096

DomainStartEndE-ValueType
low complexity region 33 60 N/A INTRINSIC
low complexity region 66 101 N/A INTRINSIC
low complexity region 102 116 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152091
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153161
Predicted Effect probably benign
Transcript: ENSMUST00000207223
Predicted Effect probably benign
Transcript: ENSMUST00000207293
AA Change: F45L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207532
AA Change: F40L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208384
Predicted Effect silent
Transcript: ENSMUST00000208890
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930404N11Rik G T 10: 81,365,729 L20I possibly damaging Het
Adgrl2 A T 3: 148,890,480 D73E probably damaging Het
Aspm A G 1: 139,480,950 Y2525C probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep89 T G 7: 35,403,152 S97A probably benign Het
Clec16a T A 16: 10,741,878 I1005N probably benign Het
Cog5 T C 12: 31,837,358 probably null Het
Crybg2 T C 4: 134,082,587 S1217P probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cytip A T 2: 58,134,013 M265K probably benign Het
Ddx60 T G 8: 61,958,642 S509R probably damaging Het
Fat4 T C 3: 38,983,046 S3616P probably benign Het
Galnt9 T C 5: 110,614,223 F409S possibly damaging Het
Hrh2 T C 13: 54,214,809 V268A probably benign Het
Ifi47 T A 11: 49,095,983 S192R probably damaging Het
Igdcc4 T C 9: 65,126,832 Y596H probably damaging Het
Lamb2 T C 9: 108,487,149 C1096R probably damaging Het
March1 A G 8: 66,418,911 Q109R probably damaging Het
Olfr1389 A T 11: 49,431,114 I213F probably damaging Het
Olfr39 T C 9: 20,286,278 L201P probably damaging Het
Olfr851 G T 9: 19,497,177 C143F probably benign Het
Patl1 T A 19: 11,932,210 V500D probably damaging Het
Pbx3 A T 2: 34,224,577 L57H probably damaging Het
Pcdhb1 T C 18: 37,266,178 V394A probably benign Het
Pogz A G 3: 94,879,083 N994S probably damaging Het
Prom1 T A 5: 44,029,698 M406L probably benign Het
Psg26 T C 7: 18,478,462 S323G probably damaging Het
Ptprm T C 17: 66,814,509 T854A probably benign Het
Puf60 A C 15: 76,075,836 probably benign Het
Six2 C T 17: 85,685,503 E191K possibly damaging Het
Thsd7a A G 6: 12,318,171 V1600A probably damaging Het
Tm4sf19 C A 16: 32,407,715 probably benign Het
Tnfrsf1a A G 6: 125,357,861 T33A probably benign Het
Troap A T 15: 99,075,361 T3S possibly damaging Het
Wdfy4 T A 14: 32,966,432 I3074L probably benign Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Tbc1d17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Tbc1d17 APN 7 44843085 missense probably benign 0.00
IGL00791:Tbc1d17 APN 7 44845313 missense probably benign 0.04
IGL01865:Tbc1d17 APN 7 44842689 missense possibly damaging 0.90
IGL02829:Tbc1d17 APN 7 44848872 unclassified probably benign
PIT4431001:Tbc1d17 UTSW 7 44845074 missense probably benign
R0035:Tbc1d17 UTSW 7 44841408 missense probably benign 0.09
R0035:Tbc1d17 UTSW 7 44841408 missense probably benign 0.09
R0066:Tbc1d17 UTSW 7 44844071 unclassified probably benign
R0066:Tbc1d17 UTSW 7 44844071 unclassified probably benign
R0414:Tbc1d17 UTSW 7 44846059 missense probably benign 0.00
R0574:Tbc1d17 UTSW 7 44843123 unclassified probably benign
R0626:Tbc1d17 UTSW 7 44843085 missense probably benign 0.00
R0960:Tbc1d17 UTSW 7 44848428 splice site probably benign
R1203:Tbc1d17 UTSW 7 44843471 missense probably damaging 1.00
R1244:Tbc1d17 UTSW 7 44844398 missense probably damaging 0.99
R1730:Tbc1d17 UTSW 7 44845131 missense probably damaging 0.99
R1783:Tbc1d17 UTSW 7 44845131 missense probably damaging 0.99
R1899:Tbc1d17 UTSW 7 44841633 unclassified probably benign
R1953:Tbc1d17 UTSW 7 44841398 unclassified probably null
R2106:Tbc1d17 UTSW 7 44848268 critical splice donor site probably null
R3889:Tbc1d17 UTSW 7 44845938 missense probably damaging 1.00
R4240:Tbc1d17 UTSW 7 44846826 missense probably damaging 1.00
R4547:Tbc1d17 UTSW 7 44841347 missense probably benign
R4787:Tbc1d17 UTSW 7 44843064 missense probably benign 0.02
R5422:Tbc1d17 UTSW 7 44848868 start codon destroyed probably null 0.98
R5569:Tbc1d17 UTSW 7 44848331 missense probably damaging 1.00
R5933:Tbc1d17 UTSW 7 44845337 missense probably damaging 0.96
R6502:Tbc1d17 UTSW 7 44841625 missense probably benign 0.30
R6838:Tbc1d17 UTSW 7 44844314 missense probably damaging 0.97
R7543:Tbc1d17 UTSW 7 44846079 missense probably benign 0.00
Z1177:Tbc1d17 UTSW 7 44842671 missense probably benign 0.00
Posted On2015-04-16