Incidental Mutation 'R4736:Depdc5'
ID 359237
Institutional Source Beutler Lab
Gene Symbol Depdc5
Ensembl Gene ENSMUSG00000037426
Gene Name DEP domain containing 5
Synonyms
MMRRC Submission 041963-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4736 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 33021045-33151580 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 33132666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1237 (M1237V)
Ref Sequence ENSEMBL: ENSMUSP00000113980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087897] [ENSMUST00000119705] [ENSMUST00000120902] [ENSMUST00000124780]
AlphaFold P61460
Predicted Effect probably benign
Transcript: ENSMUST00000087897
AA Change: M1268V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085207
Gene: ENSMUSG00000037426
AA Change: M1268V

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: M1259V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113862
Gene: ENSMUSG00000037426
AA Change: M1259V

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: M1237V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113980
Gene: ENSMUSG00000037426
AA Change: M1237V

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 silent
Transcript: ENSMUST00000124780
SMART Domains Protein: ENSMUSP00000120120
Gene: ENSMUSG00000037426

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 noncoding transcript
Transcript: ENSMUST00000127560
Predicted Effect unknown
Transcript: ENSMUST00000137169
AA Change: M643V
SMART Domains Protein: ENSMUSP00000121089
Gene: ENSMUSG00000037426
AA Change: M643V

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,246 (GRCm39) I1145T probably damaging Het
Aadat T C 8: 60,993,140 (GRCm39) V360A probably benign Het
Abhd16a A T 17: 35,320,859 (GRCm39) T436S probably benign Het
Acbd5 G T 2: 22,989,596 (GRCm39) L406F probably damaging Het
Agrn G A 4: 156,256,858 (GRCm39) T1142M probably benign Het
Aig1 C A 10: 13,677,674 (GRCm39) W106L probably damaging Het
Akr1d1 T C 6: 37,534,535 (GRCm39) probably null Het
Ap1g1 G A 8: 110,581,714 (GRCm39) D658N possibly damaging Het
Arhgap45 A G 10: 79,862,006 (GRCm39) Y520C probably damaging Het
Arhgap5 A T 12: 52,565,860 (GRCm39) M944L probably benign Het
Asic5 C T 3: 81,907,116 (GRCm39) T47I possibly damaging Het
Cabp5 A G 7: 13,134,664 (GRCm39) probably null Het
Ccr6 A T 17: 8,474,896 (GRCm39) R34* probably null Het
Cdin1 A G 2: 115,412,369 (GRCm39) I2V probably benign Het
Clec4a2 T C 6: 123,117,622 (GRCm39) I180T probably damaging Het
Cmtr1 A G 17: 29,919,216 (GRCm39) E704G possibly damaging Het
Cyth3 G A 5: 143,670,234 (GRCm39) probably null Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dennd6b T C 15: 89,069,795 (GRCm39) H468R probably benign Het
Dpp6 A G 5: 27,917,657 (GRCm39) Y616C probably damaging Het
Dync2h1 A T 9: 7,006,862 (GRCm39) S3710T probably benign Het
Eif4g3 T A 4: 137,925,408 (GRCm39) S1584T probably benign Het
Emc3 G A 6: 113,508,310 (GRCm39) T45I possibly damaging Het
Esf1 T A 2: 139,966,891 (GRCm39) D685V probably damaging Het
Ezr A G 17: 7,008,975 (GRCm39) S366P probably benign Het
Gbe1 C T 16: 70,292,141 (GRCm39) A491V probably damaging Het
Haus6 A G 4: 86,518,986 (GRCm39) probably null Het
Heca G A 10: 17,790,935 (GRCm39) Q12* probably null Het
Hpdl T C 4: 116,678,221 (GRCm39) N80S probably damaging Het
Hydin A T 8: 111,249,840 (GRCm39) Q2261L probably benign Het
Itgae G T 11: 73,005,706 (GRCm39) R290L possibly damaging Het
Kcna10 C A 3: 107,102,808 (GRCm39) L480I probably benign Het
Kif27 T C 13: 58,476,785 (GRCm39) T622A probably benign Het
Lama2 T C 10: 27,080,925 (GRCm39) N966S probably damaging Het
Mdfic A G 6: 15,741,019 (GRCm39) K38E possibly damaging Het
Med25 G A 7: 44,541,712 (GRCm39) A26V probably damaging Het
Mrpl19 A T 6: 81,941,329 (GRCm39) S77R probably damaging Het
Mtcl2 T A 2: 156,862,474 (GRCm39) D1485V probably damaging Het
Mybpc2 T C 7: 44,161,971 (GRCm39) D493G probably damaging Het
Myh4 A G 11: 67,131,746 (GRCm39) T69A probably benign Het
Myo16 G T 8: 10,423,527 (GRCm39) G288W probably damaging Het
Myo9b T C 8: 71,809,236 (GRCm39) L1815P probably damaging Het
Myom2 T A 8: 15,131,271 (GRCm39) L323Q probably damaging Het
Naip1 T C 13: 100,581,034 (GRCm39) D71G possibly damaging Het
Nktr T A 9: 121,578,805 (GRCm39) probably benign Het
Nol10 A G 12: 17,405,288 (GRCm39) K88E probably damaging Het
Nol4 T C 18: 22,852,050 (GRCm39) D505G probably damaging Het
Nynrin T A 14: 56,101,454 (GRCm39) N374K probably damaging Het
Obscn A T 11: 58,954,362 (GRCm39) L3740Q probably damaging Het
Or5g23 T C 2: 85,438,327 (GRCm39) H309R probably benign Het
Otub2 T A 12: 103,359,103 (GRCm39) L64Q probably benign Het
Pgm5 G A 19: 24,812,169 (GRCm39) A121V probably damaging Het
Pi4ka A T 16: 17,195,039 (GRCm39) Y120N probably benign Het
Rpl36al G A 12: 69,229,732 (GRCm39) A60V possibly damaging Het
Rspo4 T C 2: 151,685,054 (GRCm39) Y21H probably benign Het
Scube2 A G 7: 109,430,412 (GRCm39) V455A probably benign Het
Serpina1f T C 12: 103,659,805 (GRCm39) D159G probably damaging Het
Sf1 A G 19: 6,415,694 (GRCm39) D11G probably damaging Het
Siglecg T C 7: 43,067,332 (GRCm39) F633S probably benign Het
Skic2 A G 17: 35,067,173 (GRCm39) S89P possibly damaging Het
Slc22a13 T C 9: 119,022,698 (GRCm39) E501G probably damaging Het
Slc44a3 A G 3: 121,303,855 (GRCm39) S294P probably damaging Het
Smad3 T G 9: 63,664,842 (GRCm39) K40Q probably damaging Het
Stt3a T A 9: 36,661,008 (GRCm39) M268L probably benign Het
Taf4 A T 2: 179,566,287 (GRCm39) V817E probably damaging Het
Tgfbr1 A G 4: 47,383,835 (GRCm39) T58A probably benign Het
Trpc6 T C 9: 8,609,871 (GRCm39) V113A probably damaging Het
Ttll13 T A 7: 79,898,024 (GRCm39) probably null Het
Uba7 T C 9: 107,857,364 (GRCm39) L742P probably benign Het
Ulk2 A G 11: 61,724,261 (GRCm39) L174P probably damaging Het
Unc5c A T 3: 141,522,692 (GRCm39) Y706F probably benign Het
Unc80 A T 1: 66,688,831 (GRCm39) probably null Het
Usp34 T A 11: 23,343,749 (GRCm39) probably null Het
Vmn1r71 A T 7: 10,481,791 (GRCm39) V233D possibly damaging Het
Xpo6 T C 7: 125,739,755 (GRCm39) K439R probably benign Het
Xrn1 G T 9: 95,915,689 (GRCm39) G1271C probably damaging Het
Yes1 A T 5: 32,818,121 (GRCm39) E386V probably damaging Het
Zfp759 C A 13: 67,287,408 (GRCm39) H320N probably damaging Het
Zfp990 A T 4: 145,263,512 (GRCm39) H170L possibly damaging Het
Other mutations in Depdc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00861:Depdc5 APN 5 33,125,158 (GRCm39) splice site probably null
IGL01019:Depdc5 APN 5 33,050,745 (GRCm39) missense probably damaging 0.96
IGL01067:Depdc5 APN 5 33,056,411 (GRCm39) splice site probably null
IGL01405:Depdc5 APN 5 33,095,033 (GRCm39) missense possibly damaging 0.90
IGL01577:Depdc5 APN 5 33,113,241 (GRCm39) missense possibly damaging 0.49
IGL01633:Depdc5 APN 5 33,081,544 (GRCm39) missense probably damaging 1.00
IGL01998:Depdc5 APN 5 33,102,495 (GRCm39) splice site probably benign
IGL02025:Depdc5 APN 5 33,103,976 (GRCm39) critical splice acceptor site probably null
IGL02167:Depdc5 APN 5 33,061,145 (GRCm39) missense probably damaging 1.00
IGL02537:Depdc5 APN 5 33,125,131 (GRCm39) missense probably damaging 1.00
IGL02812:Depdc5 APN 5 33,050,712 (GRCm39) splice site probably benign
IGL03001:Depdc5 APN 5 33,102,434 (GRCm39) missense possibly damaging 0.74
IGL03253:Depdc5 APN 5 33,026,157 (GRCm39) unclassified probably benign
alligator UTSW 5 33,121,851 (GRCm39) splice site probably null
lagarto UTSW 5 33,136,852 (GRCm39) missense probably damaging 1.00
sauros UTSW 5 33,144,310 (GRCm39) missense possibly damaging 0.92
IGL02988:Depdc5 UTSW 5 33,113,511 (GRCm39) splice site probably null
R0038:Depdc5 UTSW 5 33,026,197 (GRCm39) missense probably benign 0.01
R0038:Depdc5 UTSW 5 33,026,197 (GRCm39) missense probably benign 0.01
R0153:Depdc5 UTSW 5 33,091,281 (GRCm39) splice site probably benign
R0179:Depdc5 UTSW 5 33,058,918 (GRCm39) unclassified probably benign
R0212:Depdc5 UTSW 5 33,069,586 (GRCm39) missense probably benign 0.00
R0239:Depdc5 UTSW 5 33,100,584 (GRCm39) missense probably damaging 1.00
R0239:Depdc5 UTSW 5 33,100,584 (GRCm39) missense probably damaging 1.00
R0302:Depdc5 UTSW 5 33,061,890 (GRCm39) critical splice donor site probably benign
R0511:Depdc5 UTSW 5 33,102,372 (GRCm39) nonsense probably null
R0677:Depdc5 UTSW 5 33,058,814 (GRCm39) missense probably damaging 1.00
R0884:Depdc5 UTSW 5 33,075,322 (GRCm39) missense possibly damaging 0.94
R0973:Depdc5 UTSW 5 33,144,310 (GRCm39) missense possibly damaging 0.92
R1314:Depdc5 UTSW 5 33,034,418 (GRCm39) missense probably damaging 1.00
R1611:Depdc5 UTSW 5 33,148,297 (GRCm39) missense probably damaging 1.00
R1687:Depdc5 UTSW 5 33,067,751 (GRCm39) critical splice acceptor site probably benign
R1748:Depdc5 UTSW 5 33,075,286 (GRCm39) missense probably benign 0.24
R1903:Depdc5 UTSW 5 33,067,751 (GRCm39) critical splice acceptor site probably benign
R1956:Depdc5 UTSW 5 33,061,175 (GRCm39) missense probably damaging 1.00
R1997:Depdc5 UTSW 5 33,059,250 (GRCm39) critical splice donor site probably null
R2079:Depdc5 UTSW 5 33,104,018 (GRCm39) missense possibly damaging 0.75
R2131:Depdc5 UTSW 5 33,148,125 (GRCm39) nonsense probably null
R2291:Depdc5 UTSW 5 33,136,746 (GRCm39) missense probably damaging 1.00
R2422:Depdc5 UTSW 5 33,148,379 (GRCm39) missense probably damaging 1.00
R2851:Depdc5 UTSW 5 33,081,515 (GRCm39) missense probably damaging 0.96
R2852:Depdc5 UTSW 5 33,081,515 (GRCm39) missense probably damaging 0.96
R2937:Depdc5 UTSW 5 33,058,965 (GRCm39) splice site probably null
R2938:Depdc5 UTSW 5 33,058,965 (GRCm39) splice site probably null
R2974:Depdc5 UTSW 5 33,091,361 (GRCm39) critical splice donor site probably null
R3884:Depdc5 UTSW 5 33,101,421 (GRCm39) missense probably damaging 1.00
R3967:Depdc5 UTSW 5 33,101,459 (GRCm39) nonsense probably null
R4118:Depdc5 UTSW 5 33,121,979 (GRCm39) missense probably damaging 1.00
R4197:Depdc5 UTSW 5 33,148,547 (GRCm39) missense possibly damaging 0.93
R4407:Depdc5 UTSW 5 33,061,878 (GRCm39) critical splice donor site probably null
R4534:Depdc5 UTSW 5 33,067,751 (GRCm39) critical splice acceptor site probably benign
R4535:Depdc5 UTSW 5 33,067,751 (GRCm39) critical splice acceptor site probably benign
R4538:Depdc5 UTSW 5 33,141,290 (GRCm39) missense probably damaging 1.00
R4613:Depdc5 UTSW 5 33,132,790 (GRCm39) missense probably damaging 1.00
R4738:Depdc5 UTSW 5 33,132,666 (GRCm39) missense probably benign
R4765:Depdc5 UTSW 5 33,094,979 (GRCm39) missense probably damaging 1.00
R5021:Depdc5 UTSW 5 33,136,758 (GRCm39) missense probably damaging 1.00
R5259:Depdc5 UTSW 5 33,095,635 (GRCm39) missense probably damaging 1.00
R5261:Depdc5 UTSW 5 33,095,635 (GRCm39) missense probably damaging 1.00
R5541:Depdc5 UTSW 5 33,021,973 (GRCm39) utr 5 prime probably benign
R5594:Depdc5 UTSW 5 33,058,834 (GRCm39) missense possibly damaging 0.46
R5929:Depdc5 UTSW 5 33,132,850 (GRCm39) nonsense probably null
R6132:Depdc5 UTSW 5 33,067,811 (GRCm39) missense probably damaging 0.99
R6146:Depdc5 UTSW 5 33,126,075 (GRCm39) missense probably benign 0.01
R6336:Depdc5 UTSW 5 33,121,851 (GRCm39) splice site probably null
R6468:Depdc5 UTSW 5 33,069,575 (GRCm39) missense probably benign 0.02
R6911:Depdc5 UTSW 5 33,081,536 (GRCm39) missense probably damaging 1.00
R6969:Depdc5 UTSW 5 33,141,204 (GRCm39) missense probably damaging 1.00
R7002:Depdc5 UTSW 5 33,034,502 (GRCm39) splice site probably null
R7066:Depdc5 UTSW 5 33,059,192 (GRCm39) missense probably benign 0.08
R7231:Depdc5 UTSW 5 33,059,209 (GRCm39) missense possibly damaging 0.92
R7264:Depdc5 UTSW 5 33,125,089 (GRCm39) missense probably benign
R7302:Depdc5 UTSW 5 33,136,852 (GRCm39) missense probably damaging 1.00
R7386:Depdc5 UTSW 5 33,085,280 (GRCm39) missense probably benign
R7564:Depdc5 UTSW 5 33,058,854 (GRCm39) missense probably damaging 1.00
R7636:Depdc5 UTSW 5 33,075,327 (GRCm39) missense probably benign
R7795:Depdc5 UTSW 5 33,101,447 (GRCm39) missense probably damaging 1.00
R7845:Depdc5 UTSW 5 33,061,259 (GRCm39) splice site probably null
R8013:Depdc5 UTSW 5 33,131,186 (GRCm39) missense probably benign 0.01
R8037:Depdc5 UTSW 5 33,116,692 (GRCm39) critical splice donor site probably null
R8038:Depdc5 UTSW 5 33,116,692 (GRCm39) critical splice donor site probably null
R8065:Depdc5 UTSW 5 33,053,252 (GRCm39) missense possibly damaging 0.89
R8067:Depdc5 UTSW 5 33,053,252 (GRCm39) missense possibly damaging 0.89
R8108:Depdc5 UTSW 5 33,102,393 (GRCm39) missense probably benign 0.01
R8112:Depdc5 UTSW 5 33,126,050 (GRCm39) missense possibly damaging 0.67
R8213:Depdc5 UTSW 5 33,094,981 (GRCm39) missense probably damaging 1.00
R8382:Depdc5 UTSW 5 33,085,242 (GRCm39) missense probably benign 0.00
R8680:Depdc5 UTSW 5 33,101,382 (GRCm39) missense possibly damaging 0.48
R8743:Depdc5 UTSW 5 33,081,587 (GRCm39) missense probably benign 0.10
R8754:Depdc5 UTSW 5 33,136,881 (GRCm39) missense probably benign 0.00
R9157:Depdc5 UTSW 5 33,102,452 (GRCm39) missense probably damaging 0.98
R9364:Depdc5 UTSW 5 33,122,076 (GRCm39) missense probably benign
R9441:Depdc5 UTSW 5 33,095,042 (GRCm39) missense probably benign 0.03
R9450:Depdc5 UTSW 5 33,091,354 (GRCm39) missense probably benign
R9459:Depdc5 UTSW 5 33,148,117 (GRCm39) missense probably damaging 0.99
R9554:Depdc5 UTSW 5 33,122,076 (GRCm39) missense probably benign
R9569:Depdc5 UTSW 5 33,025,321 (GRCm39) missense probably damaging 0.98
R9647:Depdc5 UTSW 5 33,081,567 (GRCm39) missense possibly damaging 0.94
R9688:Depdc5 UTSW 5 33,055,276 (GRCm39) nonsense probably null
X0027:Depdc5 UTSW 5 33,061,636 (GRCm39) missense probably damaging 1.00
Z1176:Depdc5 UTSW 5 33,100,626 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- GCAGTATTGAACAACCACTACTTC -3'
(R):5'- CTGCTTGCATAAGAGGCTGG -3'

Sequencing Primer
(F):5'- CTCACTGTGTAAGCACTAGTAGC -3'
(R):5'- ATAAGAGGCTGGCCGGC -3'
Posted On 2015-11-11