Incidental Mutation 'R2937:Depdc5'
ID 266195
Institutional Source Beutler Lab
Gene Symbol Depdc5
Ensembl Gene ENSMUSG00000037426
Gene Name DEP domain containing 5
Synonyms
MMRRC Submission 040514-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2937 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 32863701-32994236 bp(+) (GRCm38)
Type of Mutation splice site (62 bp from exon)
DNA Base Change (assembly) G to A at 32901621 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049780] [ENSMUST00000087897] [ENSMUST00000119705] [ENSMUST00000120902] [ENSMUST00000120902] [ENSMUST00000195980]
AlphaFold P61460
Predicted Effect probably null
Transcript: ENSMUST00000049780
SMART Domains Protein: ENSMUSP00000052807
Gene: ENSMUSG00000037426

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 null
Transcript: ENSMUST00000087897
SMART Domains Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426

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 null
Transcript: ENSMUST00000119705
SMART Domains Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426

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 null
Transcript: ENSMUST00000120902
SMART Domains Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426

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 null
Transcript: ENSMUST00000120902
SMART Domains Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426

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 noncoding transcript
Transcript: ENSMUST00000139098
Predicted Effect probably benign
Transcript: ENSMUST00000195980
SMART Domains Protein: ENSMUSP00000143228
Gene: ENSMUSG00000037426

DomainStartEndE-ValueType
Pfam:DUF3608 100 147 4e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201802
Predicted Effect probably benign
Transcript: ENSMUST00000201836
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (73/73)
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
Acsm1 A G 7: 119,659,127 (GRCm38) E481G probably damaging Het
Anks1b C T 10: 90,077,066 (GRCm38) T351M probably damaging Het
Arhgap45 T A 10: 80,029,002 (GRCm38) M933K probably damaging Het
Asph A C 4: 9,542,314 (GRCm38) probably benign Het
Bace2 T C 16: 97,412,188 (GRCm38) probably null Het
BC051142 A T 17: 34,421,862 (GRCm38) H57L possibly damaging Het
Cacna1b A G 2: 24,606,528 (GRCm38) V125A probably benign Het
Cbarp T C 10: 80,131,769 (GRCm38) D539G probably damaging Het
Ccdc59 A T 10: 105,841,527 (GRCm38) K9M possibly damaging Het
Cdh15 G A 8: 122,862,024 (GRCm38) R279Q probably damaging Het
Cdr1 T G X: 61,185,362 (GRCm38) D66A unknown Het
Cela3b A G 4: 137,423,263 (GRCm38) I208T probably benign Het
Clca3a2 T A 3: 144,813,918 (GRCm38) T232S probably benign Het
Col1a2 A T 6: 4,520,788 (GRCm38) Q375L possibly damaging Het
Col1a2 G A 6: 4,519,882 (GRCm38) probably benign Het
Cpd T C 11: 76,811,859 (GRCm38) N561S probably damaging Het
Csn1s1 A T 5: 87,677,136 (GRCm38) Q221L possibly damaging Het
Dnah10 T C 5: 124,819,412 (GRCm38) probably null Het
Dsg2 T C 18: 20,579,128 (GRCm38) F107S probably damaging Het
Dthd1 A G 5: 62,842,957 (GRCm38) I541V probably benign Het
Eml6 G A 11: 29,833,049 (GRCm38) probably benign Het
Fermt2 A C 14: 45,504,491 (GRCm38) probably null Het
Gimap8 A T 6: 48,658,796 (GRCm38) R498S possibly damaging Het
Glis1 A G 4: 107,632,291 (GRCm38) N692D possibly damaging Het
Grtp1 G A 8: 13,189,755 (GRCm38) probably benign Het
Hecw1 G T 13: 14,245,836 (GRCm38) Q1001K possibly damaging Het
Hydin T C 8: 110,404,295 (GRCm38) V606A possibly damaging Het
Krt33b T A 11: 100,024,009 (GRCm38) N388I probably benign Het
Lipf T C 19: 33,973,038 (GRCm38) Y277H probably damaging Het
Lmod1 A G 1: 135,363,916 (GRCm38) K170E probably benign Het
Lrrtm1 A T 6: 77,243,652 (GRCm38) M31L probably benign Het
Maats1 A T 16: 38,311,038 (GRCm38) I471N possibly damaging Het
Man1c1 A G 4: 134,702,952 (GRCm38) I173T possibly damaging Het
Med17 T C 9: 15,275,891 (GRCm38) K196E probably damaging Het
Mmp25 T A 17: 23,644,791 (GRCm38) I22F probably benign Het
Nrg3 T A 14: 38,371,008 (GRCm38) N540I possibly damaging Het
Nsun5 C T 5: 135,375,463 (GRCm38) Q375* probably null Het
Olfr584 T A 7: 103,086,341 (GRCm38) H269Q probably benign Het
Olfr600 T C 7: 103,346,065 (GRCm38) M288V probably benign Het
Pcdh1 G T 18: 38,189,762 (GRCm38) A1006E probably benign Het
Pdss1 T A 2: 22,906,787 (GRCm38) probably null Het
Plaa G A 4: 94,569,459 (GRCm38) A758V probably damaging Het
Prl6a1 T A 13: 27,315,320 (GRCm38) W24R probably damaging Het
Ptk7 T C 17: 46,572,550 (GRCm38) H863R probably damaging Het
Rbm10 T C X: 20,647,695 (GRCm38) L429P possibly damaging Het
Rhou T C 8: 123,661,141 (GRCm38) I204T possibly damaging Het
Serpind1 G T 16: 17,337,108 (GRCm38) M266I probably benign Het
Sgcg A T 14: 61,229,625 (GRCm38) F175L probably damaging Het
Slc2a2 T G 3: 28,718,771 (GRCm38) C238G probably damaging Het
Slc39a8 A G 3: 135,886,823 (GRCm38) M420V probably benign Het
Slc7a9 C A 7: 35,463,742 (GRCm38) Y457* probably null Het
Smpd3 C T 8: 106,264,820 (GRCm38) R367H probably damaging Het
Sntb2 T C 8: 106,936,097 (GRCm38) V99A probably benign Het
Specc1l T G 10: 75,259,131 (GRCm38) I796R probably damaging Het
Stfa2l1 G T 16: 36,159,946 (GRCm38) V29F probably damaging Het
Synrg T C 11: 83,994,354 (GRCm38) F455S probably damaging Het
Tap2 T C 17: 34,212,354 (GRCm38) V422A possibly damaging Het
Tcf7 A T 11: 52,282,783 (GRCm38) probably null Het
Tcp10a A G 17: 7,329,774 (GRCm38) Y110C probably damaging Het
Thoc1 T A 18: 9,959,255 (GRCm38) S43R probably damaging Het
Tlr1 A G 5: 64,925,908 (GRCm38) V442A probably damaging Het
Tmub1 A G 5: 24,445,924 (GRCm38) *261Q probably null Het
Trpc3 G A 3: 36,634,383 (GRCm38) R836* probably null Het
Ube2u T C 4: 100,524,298 (GRCm38) S185P possibly damaging Het
Vamp5 A G 6: 72,369,340 (GRCm38) V91A probably benign Het
Vcp A G 4: 42,980,846 (GRCm38) Y755H probably damaging Het
Vmn1r35 A T 6: 66,678,966 (GRCm38) M73K possibly damaging Het
Vmn2r12 C T 5: 109,091,531 (GRCm38) E389K probably damaging Het
Wdfy3 A T 5: 101,944,122 (GRCm38) F450L probably benign Het
Xpo4 G T 14: 57,604,440 (GRCm38) Q473K probably benign Het
Xpo7 A G 14: 70,671,690 (GRCm38) I797T probably damaging Het
Xylt1 C A 7: 117,634,784 (GRCm38) Q513K probably benign Het
Zfp229 T C 17: 21,745,503 (GRCm38) F238S probably damaging 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
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
R8108:Depdc5 UTSW 5 32,945,049 (GRCm38) missense probably benign 0.01
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
Posted On 2015-02-05