Incidental Mutation 'R0179:Depdc5'
ID 23029
Institutional Source Beutler Lab
Gene Symbol Depdc5
Ensembl Gene ENSMUSG00000037426
Gene Name DEP domain containing 5
Synonyms
MMRRC Submission 038447-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0179 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 32863701-32994236 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 32901574 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000049780] [ENSMUST00000087897] [ENSMUST00000119705] [ENSMUST00000120902] [ENSMUST00000195980]
AlphaFold P61460
Predicted Effect probably benign
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 benign
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 benign
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 benign
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: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 98% (81/83)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,972,214 (GRCm38) S516P probably benign Het
4932431P20Rik A G 7: 29,535,940 (GRCm38) noncoding transcript Het
Adamts1 C T 16: 85,795,465 (GRCm38) S948N probably benign Het
Adck1 A T 12: 88,459,172 (GRCm38) M457L possibly damaging Het
Adprm A T 11: 67,038,225 (GRCm38) H313Q possibly damaging Het
Adssl1 T C 12: 112,632,269 (GRCm38) I104T probably benign Het
Agxt2 A C 15: 10,399,048 (GRCm38) Q435P possibly damaging Het
Amotl1 G A 9: 14,548,773 (GRCm38) A890V probably benign Het
Ankrd50 A G 3: 38,455,314 (GRCm38) V968A possibly damaging Het
Brf2 T C 8: 27,125,868 (GRCm38) D163G possibly damaging Het
Cd226 C A 18: 89,207,139 (GRCm38) N53K probably benign Het
Cdc42ep2 T C 19: 5,918,608 (GRCm38) D23G probably benign Het
Cdc7 T C 5: 106,965,039 (GRCm38) S8P probably benign Het
Cdh8 C T 8: 99,111,712 (GRCm38) E499K possibly damaging Het
Chd7 T A 4: 8,862,516 (GRCm38) F2534L probably benign Het
Ckb T C 12: 111,670,176 (GRCm38) T255A probably benign Het
Cntnap5c G T 17: 57,769,625 (GRCm38) W19L probably benign Het
Cntrl A G 2: 35,167,859 (GRCm38) E1854G probably benign Het
Colec12 C T 18: 9,858,921 (GRCm38) P568L unknown Het
Cop1 A G 1: 159,250,066 (GRCm38) D157G probably benign Het
Csf2rb A C 15: 78,336,372 (GRCm38) Q38P possibly damaging Het
Ctla2b T C 13: 60,896,293 (GRCm38) D52G possibly damaging Het
Dcaf7 A T 11: 106,051,797 (GRCm38) D190V probably damaging Het
Dgkq A G 5: 108,658,200 (GRCm38) probably benign Het
Dhrs2 A G 14: 55,240,476 (GRCm38) T222A probably damaging Het
Dock1 G A 7: 135,098,837 (GRCm38) D1109N probably damaging Het
E4f1 G C 17: 24,451,437 (GRCm38) T92S possibly damaging Het
Ep400 A T 5: 110,668,649 (GRCm38) S2669T probably damaging Het
Eprs T G 1: 185,413,547 (GRCm38) D1184E probably benign Het
Fpr-rs4 A T 17: 18,022,027 (GRCm38) K99* probably null Het
Fzr1 A T 10: 81,369,070 (GRCm38) probably benign Het
Gcc2 C T 10: 58,276,650 (GRCm38) R1001C probably benign Het
Gm4884 A G 7: 41,043,828 (GRCm38) D407G probably benign Het
Golga4 A T 9: 118,560,740 (GRCm38) probably null Het
Gp2 T G 7: 119,452,317 (GRCm38) D225A possibly damaging Het
Gramd1a T A 7: 31,142,418 (GRCm38) T120S probably damaging Het
Hbb-bh2 T A 7: 103,839,227 (GRCm38) N121I probably benign Het
Htr6 A T 4: 139,062,126 (GRCm38) L276Q probably damaging Het
Itga9 A T 9: 118,661,386 (GRCm38) I262F probably benign Het
Lamc3 A G 2: 31,915,084 (GRCm38) probably benign Het
Large1 T C 8: 73,098,846 (GRCm38) N200S probably benign Het
Lct C T 1: 128,327,685 (GRCm38) V207I probably benign Het
Marf1 C A 16: 14,151,176 (GRCm38) L144F probably damaging Het
Morc2b A T 17: 33,136,982 (GRCm38) Y605* probably null Het
Mtus1 G T 8: 41,002,361 (GRCm38) L87I possibly damaging Het
Muc2 A G 7: 141,748,971 (GRCm38) Y17C probably damaging Het
Myf5 T C 10: 107,485,918 (GRCm38) D5G possibly damaging Het
Nasp C T 4: 116,602,157 (GRCm38) V375M probably damaging Het
Nr1h2 A T 7: 44,552,265 (GRCm38) probably null Het
Nrg2 T C 18: 36,022,415 (GRCm38) Q447R probably benign Het
Ntn5 G A 7: 45,686,313 (GRCm38) G56D probably damaging Het
Oasl2 A G 5: 114,910,912 (GRCm38) R138G probably benign Het
Olfr1209 A T 2: 88,909,893 (GRCm38) C167S possibly damaging Het
Olfr1489 T A 19: 13,633,140 (GRCm38) F10I probably damaging Het
Olfr827 T C 10: 130,210,338 (GRCm38) Y264C probably damaging Het
Pcdhb5 G A 18: 37,322,559 (GRCm38) G664D probably damaging Het
Ppp1r15a T C 7: 45,525,000 (GRCm38) E128G probably damaging Het
Prpf19 T C 19: 10,897,808 (GRCm38) probably benign Het
Ptpn3 T A 4: 57,270,118 (GRCm38) T15S probably benign Het
R3hdm2 G A 10: 127,495,106 (GRCm38) C818Y probably damaging Het
Rad51d A G 11: 82,889,998 (GRCm38) V39A possibly damaging Het
Rptor A T 11: 119,872,367 (GRCm38) T926S probably benign Het
Rwdd4a G A 8: 47,542,707 (GRCm38) D41N probably damaging Het
Sephs1 A G 2: 4,899,560 (GRCm38) T250A probably benign Het
Ssbp3 T C 4: 107,046,388 (GRCm38) S334P probably damaging Het
Suco A G 1: 161,876,305 (GRCm38) probably benign Het
Synj1 T C 16: 90,964,631 (GRCm38) K649R possibly damaging Het
Tdp2 C T 13: 24,840,448 (GRCm38) H243Y possibly damaging Het
Tinag A G 9: 76,996,882 (GRCm38) probably benign Het
Trerf1 T C 17: 47,316,662 (GRCm38) noncoding transcript Het
Trip10 T C 17: 57,262,349 (GRCm38) probably benign Het
Tsen54 A T 11: 115,822,030 (GRCm38) S131C probably damaging Het
Unc5c A T 3: 141,818,067 (GRCm38) R794* probably null Het
Vmn2r59 A T 7: 42,047,008 (GRCm38) Y103* probably null Het
Washc5 A G 15: 59,352,530 (GRCm38) V460A probably benign Het
Whamm A G 7: 81,594,015 (GRCm38) T358A probably benign Het
Xlr4b C T X: 73,218,671 (GRCm38) probably benign Het
Zbbx C T 3: 75,085,562 (GRCm38) probably benign Het
Zdhhc23 G A 16: 43,973,703 (GRCm38) P203S probably benign Het
Zfp27 T A 7: 29,896,425 (GRCm38) E38D possibly 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
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
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 PCR Primer
(F):5'- CCTCTCTTGAAACTTTGTCATGAGCCTG -3'
(R):5'- CCTTGTGCTGAGGTAGAATTGTCTCC -3'

Sequencing Primer
(F):5'- ACTTTGTCATGAGCCTGATAGC -3'
(R):5'- gctaggtggtggaggctc -3'
Posted On 2013-04-16