Incidental Mutation 'IGL01666:Deptor'
ID103312
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Deptor
Ensembl Gene ENSMUSG00000022419
Gene NameDEP domain containing MTOR-interacting protein
SynonymsD15Ertd597e, D15Ertd336e, 4731402B04Rik, 9130412E02Rik, Depdc6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL01666
Quality Score
Status
Chromosome15
Chromosomal Location55112317-55259271 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 55149379 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 54 (R54Q)
Ref Sequence ENSEMBL: ENSMUSP00000098225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023056] [ENSMUST00000096433] [ENSMUST00000100660] [ENSMUST00000226687]
Predicted Effect probably damaging
Transcript: ENSMUST00000023056
AA Change: R42Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023056
Gene: ENSMUSG00000022419
AA Change: R42Q

DomainStartEndE-ValueType
DEP 33 107 3.86e-21 SMART
DEP 134 207 1.37e-17 SMART
low complexity region 262 287 N/A INTRINSIC
PDZ 326 395 8.28e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000096433
AA Change: R54Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000094167
Gene: ENSMUSG00000022419
AA Change: R54Q

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
DEP 45 119 3.86e-21 SMART
DEP 146 219 1.37e-17 SMART
low complexity region 274 299 N/A INTRINSIC
PDZ 338 407 8.28e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100660
AA Change: R54Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098225
Gene: ENSMUSG00000022419
AA Change: R54Q

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
DEP 45 119 3.86e-21 SMART
DEP 146 219 1.37e-17 SMART
low complexity region 274 299 N/A INTRINSIC
Blast:PDZ 338 367 7e-14 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000226687
AA Change: R42Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,153,292 V1335M probably damaging Het
9530077C05Rik A G 9: 22,431,698 D163G probably benign Het
Adgrb3 C A 1: 25,460,751 A664S probably damaging Het
Ankrd61 T A 5: 143,891,136 L297F probably damaging Het
Chrnd A T 1: 87,198,736 S513C possibly damaging Het
Col24a1 G A 3: 145,344,686 V645M possibly damaging Het
Csn3 T C 5: 87,930,157 V174A unknown Het
D630039A03Rik C T 4: 57,910,570 V81I possibly damaging Het
Ell A G 8: 70,585,813 H400R probably benign Het
Itga2 A G 13: 114,837,091 probably null Het
Itpr3 A G 17: 27,117,178 I2293V probably benign Het
Mrps27 A G 13: 99,409,816 E241G probably damaging Het
Mut T C 17: 40,958,811 L687P probably damaging Het
Myh9 C T 15: 77,761,931 A1951T probably benign Het
Oca2 G A 7: 56,314,811 probably null Het
Olfr135 C T 17: 38,208,889 L215F probably benign Het
Olfr215 T A 6: 116,582,335 I204F possibly damaging Het
Ptgdr2 T C 19: 10,940,910 F264L probably benign Het
Ptpn23 T C 9: 110,386,545 T1384A possibly damaging Het
Rasgrf2 A T 13: 92,038,210 D170E probably damaging Het
Rnf20 C T 4: 49,654,486 Q848* probably null Het
Other mutations in Deptor
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02374:Deptor APN 15 55180961 missense probably damaging 1.00
R1199:Deptor UTSW 15 55252010 missense probably benign 0.00
R1659:Deptor UTSW 15 55218274 critical splice donor site probably null
R4061:Deptor UTSW 15 55208781 missense probably benign
R4688:Deptor UTSW 15 55208781 missense probably benign 0.01
R4731:Deptor UTSW 15 55181010 missense probably benign 0.00
R4732:Deptor UTSW 15 55181010 missense probably benign 0.00
R4733:Deptor UTSW 15 55181010 missense probably benign 0.00
R4757:Deptor UTSW 15 55212278 missense probably damaging 1.00
R5622:Deptor UTSW 15 55181032 missense probably damaging 1.00
R7940:Deptor UTSW 15 55208848 missense probably benign 0.03
Z1177:Deptor UTSW 15 55133459 start gained probably benign
Posted On2014-01-21