Incidental Mutation 'R8108:Depdc5'
ID 630722
Institutional Source Beutler Lab
Gene Symbol Depdc5
Ensembl Gene ENSMUSG00000037426
Gene Name DEP domain containing 5
Synonyms
MMRRC Submission 067537-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8108 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 32863701-32994236 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 32945049 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 966 (D966E)
Ref Sequence ENSEMBL: ENSMUSP00000113862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049780] [ENSMUST00000087897] [ENSMUST00000119705] [ENSMUST00000120902] [ENSMUST00000124780] [ENSMUST00000130461]
AlphaFold P61460
Predicted Effect probably benign
Transcript: ENSMUST00000049780
AA Change: D966E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426
AA Change: D966E

DomainStartEndE-ValueType
Pfam:DUF3608 100 382 3.7e-64 PFAM
low complexity region 491 508 N/A INTRINSIC
low complexity region 656 667 N/A INTRINSIC
low complexity region 690 699 N/A INTRINSIC
low complexity region 817 827 N/A INTRINSIC
low complexity region 985 997 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000087897
AA Change: D975E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: D975E

DomainStartEndE-ValueType
Pfam:DUF3608 100 382 2.3e-63 PFAM
low complexity region 491 508 N/A INTRINSIC
low complexity region 656 667 N/A INTRINSIC
low complexity region 690 699 N/A INTRINSIC
low complexity region 826 836 N/A INTRINSIC
low complexity region 994 1006 N/A INTRINSIC
low complexity region 1159 1175 N/A INTRINSIC
DEP 1184 1259 2.49e-15 SMART
low complexity region 1322 1335 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119705
AA Change: D966E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: D966E

DomainStartEndE-ValueType
Pfam:DUF3608 100 382 3e-117 PFAM
low complexity region 491 508 N/A INTRINSIC
low complexity region 656 667 N/A INTRINSIC
low complexity region 690 699 N/A INTRINSIC
low complexity region 817 827 N/A INTRINSIC
low complexity region 985 997 N/A INTRINSIC
low complexity region 1150 1166 N/A INTRINSIC
DEP 1175 1250 2.49e-15 SMART
low complexity region 1313 1326 N/A INTRINSIC
low complexity region 1511 1525 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120902
AA Change: D966E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: D966E

DomainStartEndE-ValueType
Pfam:DUF3608 100 382 3.7e-63 PFAM
low complexity region 491 508 N/A INTRINSIC
low complexity region 656 667 N/A INTRINSIC
low complexity region 690 699 N/A INTRINSIC
low complexity region 817 827 N/A INTRINSIC
low complexity region 985 997 N/A INTRINSIC
low complexity region 1128 1144 N/A INTRINSIC
DEP 1153 1228 2.49e-15 SMART
low complexity region 1291 1304 N/A INTRINSIC
low complexity region 1489 1503 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124780
AA Change: D328E

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000120120
Gene: ENSMUSG00000037426
AA Change: D328E

DomainStartEndE-ValueType
low complexity region 179 189 N/A INTRINSIC
low complexity region 347 359 N/A INTRINSIC
SCOP:d1fsha_ 519 586 1e-13 SMART
Blast:DEP 537 589 2e-24 BLAST
Predicted Effect
SMART Domains Protein: ENSMUSP00000118681
Gene: ENSMUSG00000037426
AA Change: D51E

DomainStartEndE-ValueType
low complexity region 70 82 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426
AA Change: D372E

DomainStartEndE-ValueType
low complexity region 54 65 N/A INTRINSIC
low complexity region 88 97 N/A INTRINSIC
low complexity region 224 234 N/A INTRINSIC
low complexity region 392 404 N/A INTRINSIC
low complexity region 535 551 N/A INTRINSIC
DEP 560 635 2.49e-15 SMART
low complexity region 698 711 N/A INTRINSIC
low complexity region 896 910 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 97.3%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit preweaning lethality. Mice homozygous for a conditional allele activated in neurons exhibit reduced body weight, limb grasping, premature death, spontaneous seizure, increased brain size due to neuron hypertrophy and increased PTZ seizure susceptibility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T A 12: 84,017,361 (GRCm38) H414Q probably benign Het
Actrt2 A T 4: 154,667,036 (GRCm38) D214E probably benign Het
Ccdc7a T C 8: 128,980,153 (GRCm38) T332A unknown Het
Chd9 C T 8: 90,933,224 (GRCm38) H271Y unknown Het
Dolpp1 A G 2: 30,396,246 (GRCm38) Y119C probably benign Het
Dscam G C 16: 96,643,879 (GRCm38) D1537E probably benign Het
Dusp16 A G 6: 134,739,873 (GRCm38) I157T probably benign Het
Dyrk2 T C 10: 118,859,829 (GRCm38) D508G probably benign Het
Endov T C 11: 119,507,411 (GRCm38) V334A probably benign Het
Ep400 A T 5: 110,687,883 (GRCm38) V1956E unknown Het
Erich3 A T 3: 154,720,115 (GRCm38) Y83F possibly damaging Het
Fbrsl1 T C 5: 110,378,379 (GRCm38) probably null Het
Gm1110 T C 9: 26,920,661 (GRCm38) I65V probably damaging Het
Gm28374 A G 19: 6,082,200 (GRCm38) V19A Het
Gm436 A T 4: 144,670,669 (GRCm38) N164K probably benign Het
Gpr107 C A 2: 31,184,869 (GRCm38) H336Q probably damaging Het
Gpr137b T C 13: 13,359,406 (GRCm38) Y355C Het
Grm1 C A 10: 10,720,132 (GRCm38) R584L probably benign Het
Gse1 T C 8: 120,229,810 (GRCm38) S347P unknown Het
Ier3ip1 T A 18: 76,940,525 (GRCm38) I69K possibly damaging Het
Impact T G 18: 12,984,331 (GRCm38) L154V probably benign Het
Katnb1 T C 8: 95,093,945 (GRCm38) F141S possibly damaging Het
Kifap3 T A 1: 163,797,362 (GRCm38) N162K probably damaging Het
Klhl5 A G 5: 65,148,587 (GRCm38) probably null Het
Klre1 A G 6: 129,584,222 (GRCm38) D182G probably benign Het
Krt42 T A 11: 100,266,957 (GRCm38) Y227F probably benign Het
Lhcgr T A 17: 88,742,050 (GRCm38) K683* probably null Het
Lrrc37a G A 11: 103,503,057 (GRCm38) S514F probably benign Het
Lrrc9 G T 12: 72,454,059 (GRCm38) L186F probably damaging Het
Metrn A G 17: 25,795,030 (GRCm38) V274A probably benign Het
Mettl25 A T 10: 105,823,179 (GRCm38) F414L possibly damaging Het
Mixl1 A G 1: 180,696,702 (GRCm38) V104A probably damaging Het
Myo9b T A 8: 71,348,342 (GRCm38) M1047K probably damaging Het
Nbea G A 3: 55,819,315 (GRCm38) A2081V probably benign Het
Ndufs1 A T 1: 63,150,012 (GRCm38) D551E possibly damaging Het
Nectin3 T C 16: 46,464,121 (GRCm38) T67A possibly damaging Het
Nme8 C T 13: 19,650,960 (GRCm38) V519I probably benign Het
Npat G T 9: 53,571,129 (GRCm38) G1379V probably benign Het
Obscn T A 11: 59,061,634 (GRCm38) T3870S probably benign Het
Olfr1000 T C 2: 85,608,749 (GRCm38) R54G possibly damaging Het
Olfr1288 T C 2: 111,479,234 (GRCm38) V150A possibly damaging Het
Olfr177 T C 16: 58,872,236 (GRCm38) M305V probably benign Het
Olfr379-ps1 T A 11: 73,433,854 (GRCm38) H124L unknown Het
Olfr871 T A 9: 20,212,451 (GRCm38) M34K possibly damaging Het
Olfr910 A G 9: 38,539,410 (GRCm38) N172D probably damaging Het
Parp8 A T 13: 116,867,073 (GRCm38) Y769* probably null Het
Pcnx C T 12: 81,918,819 (GRCm38) R59* probably null Het
Pdzd2 G A 15: 12,373,506 (GRCm38) S2181L probably benign Het
Phldb1 T C 9: 44,711,161 (GRCm38) E65G probably damaging Het
Ppif C T 14: 25,698,326 (GRCm38) T157M probably damaging Het
Ppp3ca T A 3: 136,932,225 (GRCm38) probably null Het
Proser1 T A 3: 53,472,088 (GRCm38) probably null Het
Reg3d T A 6: 78,376,079 (GRCm38) K174* probably null Het
Rubcn A T 16: 32,856,950 (GRCm38) L55Q probably damaging Het
Sec14l3 T C 11: 4,066,198 (GRCm38) L39P probably damaging Het
Ska3 A G 14: 57,826,102 (GRCm38) I4T probably damaging Het
Slc30a10 A G 1: 185,464,154 (GRCm38) I338V possibly damaging Het
Slc35g1 T A 19: 38,402,831 (GRCm38) L187H probably damaging Het
Slc35g1 C G 19: 38,402,829 (GRCm38) S186R probably damaging Het
Spata5 T C 3: 37,431,782 (GRCm38) S218P probably benign Het
Tbc1d5 T C 17: 50,742,086 (GRCm38) I659V probably benign Het
Tbl3 G T 17: 24,700,916 (GRCm38) D751E probably benign Het
Tdrd3 T A 14: 87,486,266 (GRCm38) D311E possibly damaging Het
Tenm4 T C 7: 96,854,728 (GRCm38) F1335S probably benign Het
Tm2d1 A T 4: 98,375,023 (GRCm38) C83S probably damaging Het
Tnfrsf22 A T 7: 143,638,373 (GRCm38) V192D unknown Het
Trpm6 A G 19: 18,811,790 (GRCm38) T575A probably damaging Het
Uri1 T C 7: 37,981,673 (GRCm38) D102G possibly damaging Het
Vmn2r1 T A 3: 64,103,050 (GRCm38) C570S probably damaging Het
Vps13a C T 19: 16,640,787 (GRCm38) V2906I probably damaging Het
Zfp472 T C 17: 32,978,003 (GRCm38) Y351H possibly damaging Het
Zfp874a G T 13: 67,443,234 (GRCm38) Y110* probably null Het
Zfp986 T A 4: 145,899,305 (GRCm38) N178K probably benign Het
Other mutations in Depdc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Depdc5 APN 5 32,967,814 (GRCm38) splice site probably null
IGL01019:Depdc5 APN 5 32,893,401 (GRCm38) missense probably damaging 0.96
IGL01067:Depdc5 APN 5 32,899,067 (GRCm38) splice site probably null
IGL01405:Depdc5 APN 5 32,937,689 (GRCm38) missense possibly damaging 0.90
IGL01577:Depdc5 APN 5 32,955,897 (GRCm38) missense possibly damaging 0.49
IGL01633:Depdc5 APN 5 32,924,200 (GRCm38) missense probably damaging 1.00
IGL01998:Depdc5 APN 5 32,945,151 (GRCm38) splice site probably benign
IGL02025:Depdc5 APN 5 32,946,632 (GRCm38) critical splice acceptor site probably null
IGL02167:Depdc5 APN 5 32,903,801 (GRCm38) missense probably damaging 1.00
IGL02537:Depdc5 APN 5 32,967,787 (GRCm38) missense probably damaging 1.00
IGL02812:Depdc5 APN 5 32,893,368 (GRCm38) splice site probably benign
IGL03001:Depdc5 APN 5 32,945,090 (GRCm38) missense possibly damaging 0.74
IGL03253:Depdc5 APN 5 32,868,813 (GRCm38) unclassified probably benign
alligator UTSW 5 32,964,507 (GRCm38) splice site probably null
lagarto UTSW 5 32,979,508 (GRCm38) missense probably damaging 1.00
sauros UTSW 5 32,986,966 (GRCm38) missense possibly damaging 0.92
IGL02988:Depdc5 UTSW 5 32,956,167 (GRCm38) splice site probably null
R0038:Depdc5 UTSW 5 32,868,853 (GRCm38) missense probably benign 0.01
R0038:Depdc5 UTSW 5 32,868,853 (GRCm38) missense probably benign 0.01
R0153:Depdc5 UTSW 5 32,933,937 (GRCm38) splice site probably benign
R0179:Depdc5 UTSW 5 32,901,574 (GRCm38) unclassified probably benign
R0212:Depdc5 UTSW 5 32,912,242 (GRCm38) missense probably benign 0.00
R0239:Depdc5 UTSW 5 32,943,240 (GRCm38) missense probably damaging 1.00
R0239:Depdc5 UTSW 5 32,943,240 (GRCm38) missense probably damaging 1.00
R0302:Depdc5 UTSW 5 32,904,546 (GRCm38) critical splice donor site probably benign
R0511:Depdc5 UTSW 5 32,945,028 (GRCm38) nonsense probably null
R0677:Depdc5 UTSW 5 32,901,470 (GRCm38) missense probably damaging 1.00
R0884:Depdc5 UTSW 5 32,917,978 (GRCm38) missense possibly damaging 0.94
R0973:Depdc5 UTSW 5 32,986,966 (GRCm38) missense possibly damaging 0.92
R1314:Depdc5 UTSW 5 32,877,074 (GRCm38) missense probably damaging 1.00
R1611:Depdc5 UTSW 5 32,990,953 (GRCm38) missense probably damaging 1.00
R1687:Depdc5 UTSW 5 32,910,407 (GRCm38) critical splice acceptor site probably benign
R1748:Depdc5 UTSW 5 32,917,942 (GRCm38) missense probably benign 0.24
R1903:Depdc5 UTSW 5 32,910,407 (GRCm38) critical splice acceptor site probably benign
R1956:Depdc5 UTSW 5 32,903,831 (GRCm38) missense probably damaging 1.00
R1997:Depdc5 UTSW 5 32,901,906 (GRCm38) critical splice donor site probably null
R2079:Depdc5 UTSW 5 32,946,674 (GRCm38) missense possibly damaging 0.75
R2131:Depdc5 UTSW 5 32,990,781 (GRCm38) nonsense probably null
R2291:Depdc5 UTSW 5 32,979,402 (GRCm38) missense probably damaging 1.00
R2422:Depdc5 UTSW 5 32,991,035 (GRCm38) missense probably damaging 1.00
R2851:Depdc5 UTSW 5 32,924,171 (GRCm38) missense probably damaging 0.96
R2852:Depdc5 UTSW 5 32,924,171 (GRCm38) missense probably damaging 0.96
R2937:Depdc5 UTSW 5 32,901,621 (GRCm38) splice site probably null
R2938:Depdc5 UTSW 5 32,901,621 (GRCm38) splice site probably null
R2974:Depdc5 UTSW 5 32,934,017 (GRCm38) critical splice donor site probably null
R3884:Depdc5 UTSW 5 32,944,077 (GRCm38) missense probably damaging 1.00
R3967:Depdc5 UTSW 5 32,944,115 (GRCm38) nonsense probably null
R4118:Depdc5 UTSW 5 32,964,635 (GRCm38) missense probably damaging 1.00
R4197:Depdc5 UTSW 5 32,991,203 (GRCm38) missense possibly damaging 0.93
R4407:Depdc5 UTSW 5 32,904,534 (GRCm38) critical splice donor site probably null
R4534:Depdc5 UTSW 5 32,910,407 (GRCm38) critical splice acceptor site probably benign
R4535:Depdc5 UTSW 5 32,910,407 (GRCm38) critical splice acceptor site probably benign
R4538:Depdc5 UTSW 5 32,983,946 (GRCm38) missense probably damaging 1.00
R4613:Depdc5 UTSW 5 32,975,446 (GRCm38) missense probably damaging 1.00
R4736:Depdc5 UTSW 5 32,975,322 (GRCm38) missense probably benign
R4738:Depdc5 UTSW 5 32,975,322 (GRCm38) missense probably benign
R4765:Depdc5 UTSW 5 32,937,635 (GRCm38) missense probably damaging 1.00
R5021:Depdc5 UTSW 5 32,979,414 (GRCm38) missense probably damaging 1.00
R5259:Depdc5 UTSW 5 32,938,291 (GRCm38) missense probably damaging 1.00
R5261:Depdc5 UTSW 5 32,938,291 (GRCm38) missense probably damaging 1.00
R5541:Depdc5 UTSW 5 32,864,629 (GRCm38) utr 5 prime probably benign
R5594:Depdc5 UTSW 5 32,901,490 (GRCm38) missense possibly damaging 0.46
R5929:Depdc5 UTSW 5 32,975,506 (GRCm38) nonsense probably null
R6132:Depdc5 UTSW 5 32,910,467 (GRCm38) missense probably damaging 0.99
R6146:Depdc5 UTSW 5 32,968,731 (GRCm38) missense probably benign 0.01
R6336:Depdc5 UTSW 5 32,964,507 (GRCm38) splice site probably null
R6468:Depdc5 UTSW 5 32,912,231 (GRCm38) missense probably benign 0.02
R6911:Depdc5 UTSW 5 32,924,192 (GRCm38) missense probably damaging 1.00
R6969:Depdc5 UTSW 5 32,983,860 (GRCm38) missense probably damaging 1.00
R7002:Depdc5 UTSW 5 32,877,158 (GRCm38) splice site probably null
R7066:Depdc5 UTSW 5 32,901,848 (GRCm38) missense probably benign 0.08
R7231:Depdc5 UTSW 5 32,901,865 (GRCm38) missense possibly damaging 0.92
R7264:Depdc5 UTSW 5 32,967,745 (GRCm38) missense probably benign
R7302:Depdc5 UTSW 5 32,979,508 (GRCm38) missense probably damaging 1.00
R7386:Depdc5 UTSW 5 32,927,936 (GRCm38) missense probably benign
R7564:Depdc5 UTSW 5 32,901,510 (GRCm38) missense probably damaging 1.00
R7636:Depdc5 UTSW 5 32,917,983 (GRCm38) missense probably benign
R7795:Depdc5 UTSW 5 32,944,103 (GRCm38) missense probably damaging 1.00
R7845:Depdc5 UTSW 5 32,903,915 (GRCm38) splice site probably null
R8013:Depdc5 UTSW 5 32,973,842 (GRCm38) missense probably benign 0.01
R8037:Depdc5 UTSW 5 32,959,348 (GRCm38) critical splice donor site probably null
R8038:Depdc5 UTSW 5 32,959,348 (GRCm38) critical splice donor site probably null
R8065:Depdc5 UTSW 5 32,895,908 (GRCm38) missense possibly damaging 0.89
R8067:Depdc5 UTSW 5 32,895,908 (GRCm38) missense possibly damaging 0.89
R8112:Depdc5 UTSW 5 32,968,706 (GRCm38) missense possibly damaging 0.67
R8213:Depdc5 UTSW 5 32,937,637 (GRCm38) missense probably damaging 1.00
R8382:Depdc5 UTSW 5 32,927,898 (GRCm38) missense probably benign 0.00
R8680:Depdc5 UTSW 5 32,944,038 (GRCm38) missense possibly damaging 0.48
R8743:Depdc5 UTSW 5 32,924,243 (GRCm38) missense probably benign 0.10
R8754:Depdc5 UTSW 5 32,979,537 (GRCm38) missense probably benign 0.00
R9157:Depdc5 UTSW 5 32,945,108 (GRCm38) missense probably damaging 0.98
R9364:Depdc5 UTSW 5 32,964,732 (GRCm38) missense probably benign
R9441:Depdc5 UTSW 5 32,937,698 (GRCm38) missense probably benign 0.03
R9450:Depdc5 UTSW 5 32,934,010 (GRCm38) missense probably benign
R9459:Depdc5 UTSW 5 32,990,773 (GRCm38) missense probably damaging 0.99
R9554:Depdc5 UTSW 5 32,964,732 (GRCm38) missense probably benign
R9569:Depdc5 UTSW 5 32,867,977 (GRCm38) missense probably damaging 0.98
R9647:Depdc5 UTSW 5 32,924,223 (GRCm38) missense possibly damaging 0.94
R9688:Depdc5 UTSW 5 32,897,932 (GRCm38) nonsense probably null
X0027:Depdc5 UTSW 5 32,904,292 (GRCm38) missense probably damaging 1.00
Z1176:Depdc5 UTSW 5 32,943,282 (GRCm38) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- CTTGCACCAGCTTCAGAGAG -3'
(R):5'- GGGTAGTCATGGGATACATCAC -3'

Sequencing Primer
(F):5'- GAGCTCCCTGGAAGGACTCTTATTAC -3'
(R):5'- TAGTCATGGGATACATCACCTGGC -3'
Posted On 2020-06-30