Incidental Mutation 'R5586:Dennd5a'
ID 438716
Institutional Source Beutler Lab
Gene Symbol Dennd5a
Ensembl Gene ENSMUSG00000035901
Gene Name DENN domain containing 5A
Synonyms Rab6ip1, 1500012B19Rik, ORF37
MMRRC Submission 043140-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R5586 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 109492987-109559677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109504928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 861 (R861G)
Ref Sequence ENSEMBL: ENSMUSP00000079295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080437] [ENSMUST00000106722]
AlphaFold Q6PAL8
PDB Structure Strucure of RAB6(GTP)-R6IP1 complex [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080437
AA Change: R861G

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901
AA Change: R861G

DomainStartEndE-ValueType
uDENN 12 138 7.71e-45 SMART
DENN 202 390 9.28e-80 SMART
dDENN 512 588 4.06e-21 SMART
low complexity region 832 844 N/A INTRINSIC
RUN 884 947 4.9e-22 SMART
Pfam:PLAT 956 1062 1e-15 PFAM
RUN 1218 1278 3.69e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106722
AA Change: R837G

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901
AA Change: R837G

DomainStartEndE-ValueType
uDENN 12 114 2.32e-39 SMART
DENN 178 366 9.28e-80 SMART
dDENN 488 564 4.06e-21 SMART
low complexity region 808 820 N/A INTRINSIC
RUN 860 923 4.9e-22 SMART
Pfam:PLAT 932 1038 2.8e-18 PFAM
RUN 1194 1254 3.69e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154002
Meta Mutation Damage Score 0.1221 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
Validation Efficiency 98% (101/103)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,277,153 (GRCm39) noncoding transcript Het
Aaas A T 15: 102,255,111 (GRCm39) probably null Het
Abcc3 G A 11: 94,255,247 (GRCm39) R600W probably damaging Het
Abhd13 A T 8: 10,038,318 (GRCm39) Q305L probably benign Het
Adcy5 A T 16: 34,977,486 (GRCm39) I340F probably damaging Het
Adgrl3 T A 5: 81,871,994 (GRCm39) I964N probably damaging Het
Anks1b T A 10: 89,912,926 (GRCm39) H316Q probably damaging Het
Ap3d1 A T 10: 80,554,964 (GRCm39) F454I possibly damaging Het
Apol7c T C 15: 77,410,599 (GRCm39) R116G possibly damaging Het
Arhgap5 A G 12: 52,566,695 (GRCm39) E1222G possibly damaging Het
AW551984 A G 9: 39,502,559 (GRCm39) V673A probably benign Het
Baiap2l1 A G 5: 144,218,949 (GRCm39) S220P probably damaging Het
Bcl6 A G 16: 23,791,926 (GRCm39) F143L probably benign Het
Calb1 A T 4: 15,900,811 (GRCm39) T165S probably benign Het
Ccdc66 C A 14: 27,228,668 (GRCm39) G6C probably damaging Het
Ccdc88a A G 11: 29,453,484 (GRCm39) I344V probably benign Het
Cdh19 T A 1: 110,857,587 (GRCm39) D249V probably damaging Het
Ces1c T A 8: 93,854,227 (GRCm39) T103S probably benign Het
Cfap54 T A 10: 92,808,473 (GRCm39) K1401* probably null Het
Copa T A 1: 171,932,789 (GRCm39) N371K probably damaging Het
Cyp2b10 A T 7: 25,616,437 (GRCm39) Y348F probably damaging Het
Dhx8 T C 11: 101,623,862 (GRCm39) probably benign Het
Dido1 C T 2: 180,301,445 (GRCm39) W2153* probably null Het
Dlgap1 T A 17: 71,125,156 (GRCm39) V969D probably damaging Het
Dvl3 A G 16: 20,336,039 (GRCm39) D32G probably damaging Het
Epdr1 T C 13: 19,778,718 (GRCm39) D24G probably benign Het
Etnk2 T A 1: 133,307,043 (GRCm39) probably null Het
Fhad1 C T 4: 141,632,442 (GRCm39) M1232I probably benign Het
Gcnt2 A C 13: 41,014,429 (GRCm39) E200A probably damaging Het
Gm5174 A G 10: 86,492,409 (GRCm39) noncoding transcript Het
Gm6408 T A 5: 146,421,267 (GRCm39) F299I possibly damaging Het
Gpr85 G T 6: 13,836,000 (GRCm39) Y301* probably null Het
Gucy2e G T 11: 69,117,082 (GRCm39) P780T probably damaging Het
Icam5 A T 9: 20,946,116 (GRCm39) N316I probably damaging Het
Ifit1bl1 C T 19: 34,571,677 (GRCm39) R260Q probably damaging Het
Il1r1 A C 1: 40,264,411 (GRCm39) probably benign Het
Kif3c A T 12: 3,439,656 (GRCm39) I86F probably benign Het
Klhdc2 A G 12: 69,354,467 (GRCm39) probably null Het
Mast2 A G 4: 116,292,760 (GRCm39) L9P probably damaging Het
Mcoln1 G T 8: 3,560,389 (GRCm39) C316F probably damaging Het
Mon1a A T 9: 107,775,894 (GRCm39) D4V probably damaging Het
Ms4a18 T A 19: 10,991,038 (GRCm39) M19L probably benign Het
Nbea T C 3: 55,539,392 (GRCm39) K2790E probably benign Het
Niban1 C T 1: 151,593,307 (GRCm39) T664I probably benign Het
Noc3l C T 19: 38,803,139 (GRCm39) E167K possibly damaging Het
Nol10 G A 12: 17,466,829 (GRCm39) E570K possibly damaging Het
Nr2e3 T C 9: 59,856,484 (GRCm39) R69G probably damaging Het
Obscn G A 11: 58,892,294 (GRCm39) R1358* probably null Het
Or14j4 A T 17: 37,921,145 (GRCm39) F166I probably damaging Het
Or2b7 C A 13: 21,739,266 (GRCm39) V309F probably damaging Het
Or52e8b A G 7: 104,673,428 (GRCm39) I253T probably damaging Het
Or5b117 A T 19: 13,431,746 (GRCm39) M45K probably benign Het
Pak2 A T 16: 31,860,337 (GRCm39) D175E probably benign Het
Pccb C T 9: 100,867,856 (GRCm39) V357I possibly damaging Het
Pcdhb4 C T 18: 37,442,034 (GRCm39) P448L probably damaging Het
Pcdhb9 A G 18: 37,534,167 (GRCm39) M54V probably benign Het
Ppp3cb A G 14: 20,570,758 (GRCm39) probably benign Het
Ppp4r1 A G 17: 66,131,563 (GRCm39) D452G probably benign Het
Pramel18 T A 4: 101,767,317 (GRCm39) F189I probably benign Het
Prmt3 T A 7: 49,476,499 (GRCm39) D369E probably damaging Het
Psmd12 T A 11: 107,377,301 (GRCm39) V120D probably benign Het
Ptprb T C 10: 116,189,732 (GRCm39) L1797P probably damaging Het
Ptprm A G 17: 67,227,191 (GRCm39) S653P probably damaging Het
Pxdn T A 12: 30,053,141 (GRCm39) V926D probably damaging Het
Retreg3 T G 11: 100,997,165 (GRCm39) Q105P probably damaging Het
Sacs A T 14: 61,443,890 (GRCm39) R1979* probably null Het
Scn2a T A 2: 65,537,639 (GRCm39) L696* probably null Het
Sema3c A T 5: 17,916,422 (GRCm39) N465Y probably damaging Het
Slc25a32 A T 15: 38,963,308 (GRCm39) V171E possibly damaging Het
Slc30a7 C T 3: 115,783,700 (GRCm39) V158I probably benign Het
Slc44a5 G A 3: 153,975,802 (GRCm39) probably benign Het
Slc4a8 A G 15: 100,685,045 (GRCm39) D140G probably damaging Het
Slc7a11 G A 3: 50,397,532 (GRCm39) S60L possibly damaging Het
Spryd3 A T 15: 102,040,372 (GRCm39) H59Q probably benign Het
Sqstm1 T C 11: 50,093,849 (GRCm39) D256G probably damaging Het
Sst A T 16: 23,708,487 (GRCm39) S115T probably damaging Het
Stimate A G 14: 30,592,776 (GRCm39) K166E probably damaging Het
Surf1 T C 2: 26,805,963 (GRCm39) probably benign Het
Synj1 A T 16: 90,806,865 (GRCm39) probably benign Het
Tet1 C A 10: 62,714,073 (GRCm39) C574F probably damaging Het
Thnsl1 T A 2: 21,217,201 (GRCm39) Y318* probably null Het
Tomm70a A G 16: 56,942,493 (GRCm39) E90G probably damaging Het
Treml4 A G 17: 48,571,927 (GRCm39) D110G probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Txnl1 C T 18: 63,797,396 (GRCm39) G283D probably damaging Het
Uba6 T C 5: 86,282,906 (GRCm39) D559G probably damaging Het
Usp4 T C 9: 108,233,661 (GRCm39) V94A possibly damaging Het
Vmn2r25 A C 6: 123,802,255 (GRCm39) C549W probably damaging Het
Vmn2r59 G T 7: 41,695,105 (GRCm39) Q436K probably benign Het
Wdr70 A T 15: 7,913,769 (GRCm39) Y627N possibly damaging Het
Xpr1 T C 1: 155,188,609 (GRCm39) I344V probably benign Het
Zfp423 T A 8: 88,585,968 (GRCm39) Q61L possibly damaging Het
Other mutations in Dennd5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Dennd5a APN 7 109,507,579 (GRCm39) missense probably benign
IGL01338:Dennd5a APN 7 109,518,611 (GRCm39) missense possibly damaging 0.92
IGL01618:Dennd5a APN 7 109,533,302 (GRCm39) missense probably damaging 1.00
IGL02047:Dennd5a APN 7 109,533,991 (GRCm39) missense possibly damaging 0.92
IGL02277:Dennd5a APN 7 109,497,176 (GRCm39) missense possibly damaging 0.61
IGL02492:Dennd5a APN 7 109,532,844 (GRCm39) missense probably benign
IGL02697:Dennd5a APN 7 109,493,988 (GRCm39) missense probably damaging 1.00
IGL02935:Dennd5a APN 7 109,520,514 (GRCm39) missense possibly damaging 0.80
IGL02986:Dennd5a APN 7 109,534,731 (GRCm39) missense probably benign
IGL03088:Dennd5a APN 7 109,507,588 (GRCm39) missense probably damaging 1.00
IGL03156:Dennd5a APN 7 109,518,462 (GRCm39) splice site probably benign
IGL03181:Dennd5a APN 7 109,532,865 (GRCm39) missense probably damaging 1.00
big_pal UTSW 7 109,518,630 (GRCm39) nonsense probably null
Celestial UTSW 7 109,500,296 (GRCm39) missense probably damaging 1.00
PIT4434001:Dennd5a UTSW 7 109,532,831 (GRCm39) missense probably damaging 1.00
R0055:Dennd5a UTSW 7 109,498,998 (GRCm39) missense possibly damaging 0.72
R0055:Dennd5a UTSW 7 109,498,998 (GRCm39) missense possibly damaging 0.72
R0092:Dennd5a UTSW 7 109,499,013 (GRCm39) missense possibly damaging 0.95
R0111:Dennd5a UTSW 7 109,533,961 (GRCm39) missense probably damaging 1.00
R0517:Dennd5a UTSW 7 109,533,968 (GRCm39) missense probably damaging 1.00
R0546:Dennd5a UTSW 7 109,520,633 (GRCm39) missense probably benign 0.01
R0811:Dennd5a UTSW 7 109,532,820 (GRCm39) missense possibly damaging 0.93
R0812:Dennd5a UTSW 7 109,532,820 (GRCm39) missense possibly damaging 0.93
R0827:Dennd5a UTSW 7 109,498,938 (GRCm39) missense probably damaging 1.00
R0831:Dennd5a UTSW 7 109,533,961 (GRCm39) missense probably damaging 1.00
R1075:Dennd5a UTSW 7 109,517,808 (GRCm39) missense probably benign
R1115:Dennd5a UTSW 7 109,517,968 (GRCm39) missense probably damaging 1.00
R1128:Dennd5a UTSW 7 109,520,541 (GRCm39) nonsense probably null
R1300:Dennd5a UTSW 7 109,518,614 (GRCm39) missense probably benign
R1698:Dennd5a UTSW 7 109,516,587 (GRCm39) splice site probably null
R1711:Dennd5a UTSW 7 109,517,919 (GRCm39) missense probably benign 0.00
R1771:Dennd5a UTSW 7 109,517,893 (GRCm39) missense probably damaging 0.98
R1803:Dennd5a UTSW 7 109,497,820 (GRCm39) missense probably benign 0.00
R2064:Dennd5a UTSW 7 109,497,900 (GRCm39) splice site probably benign
R2176:Dennd5a UTSW 7 109,504,327 (GRCm39) splice site probably null
R2182:Dennd5a UTSW 7 109,533,201 (GRCm39) missense probably benign 0.03
R2852:Dennd5a UTSW 7 109,532,878 (GRCm39) missense probably damaging 1.00
R2853:Dennd5a UTSW 7 109,532,878 (GRCm39) missense probably damaging 1.00
R3035:Dennd5a UTSW 7 109,520,559 (GRCm39) missense probably benign 0.00
R3835:Dennd5a UTSW 7 109,533,449 (GRCm39) missense probably benign 0.00
R3953:Dennd5a UTSW 7 109,504,906 (GRCm39) missense probably benign 0.44
R3954:Dennd5a UTSW 7 109,504,906 (GRCm39) missense probably benign 0.44
R3955:Dennd5a UTSW 7 109,504,906 (GRCm39) missense probably benign 0.44
R3957:Dennd5a UTSW 7 109,504,906 (GRCm39) missense probably benign 0.44
R4014:Dennd5a UTSW 7 109,534,688 (GRCm39) critical splice donor site probably null
R4166:Dennd5a UTSW 7 109,526,032 (GRCm39) critical splice donor site probably null
R4362:Dennd5a UTSW 7 109,495,550 (GRCm39) missense probably damaging 1.00
R4567:Dennd5a UTSW 7 109,498,942 (GRCm39) missense probably benign 0.06
R4700:Dennd5a UTSW 7 109,520,405 (GRCm39) missense probably benign 0.01
R4734:Dennd5a UTSW 7 109,495,543 (GRCm39) missense probably damaging 0.96
R4914:Dennd5a UTSW 7 109,500,296 (GRCm39) missense probably damaging 1.00
R4915:Dennd5a UTSW 7 109,500,296 (GRCm39) missense probably damaging 1.00
R4918:Dennd5a UTSW 7 109,500,296 (GRCm39) missense probably damaging 1.00
R4992:Dennd5a UTSW 7 109,493,919 (GRCm39) missense probably damaging 0.98
R5011:Dennd5a UTSW 7 109,513,983 (GRCm39) missense possibly damaging 0.89
R5013:Dennd5a UTSW 7 109,513,983 (GRCm39) missense possibly damaging 0.89
R5034:Dennd5a UTSW 7 109,499,004 (GRCm39) missense probably damaging 0.98
R5194:Dennd5a UTSW 7 109,532,936 (GRCm39) missense probably damaging 1.00
R5359:Dennd5a UTSW 7 109,497,169 (GRCm39) missense probably damaging 1.00
R5430:Dennd5a UTSW 7 109,533,447 (GRCm39) missense probably damaging 1.00
R5607:Dennd5a UTSW 7 109,518,630 (GRCm39) nonsense probably null
R5608:Dennd5a UTSW 7 109,518,630 (GRCm39) nonsense probably null
R5783:Dennd5a UTSW 7 109,493,843 (GRCm39) missense probably damaging 0.97
R5866:Dennd5a UTSW 7 109,518,567 (GRCm39) missense probably benign 0.00
R5890:Dennd5a UTSW 7 109,533,428 (GRCm39) missense probably benign 0.00
R6053:Dennd5a UTSW 7 109,532,952 (GRCm39) missense probably damaging 1.00
R6247:Dennd5a UTSW 7 109,497,889 (GRCm39) missense probably damaging 1.00
R6362:Dennd5a UTSW 7 109,533,472 (GRCm39) nonsense probably null
R6446:Dennd5a UTSW 7 109,493,873 (GRCm39) missense probably damaging 1.00
R6894:Dennd5a UTSW 7 109,500,325 (GRCm39) missense probably damaging 1.00
R7061:Dennd5a UTSW 7 109,504,386 (GRCm39) missense probably benign 0.19
R7115:Dennd5a UTSW 7 109,493,961 (GRCm39) missense probably damaging 1.00
R7133:Dennd5a UTSW 7 109,495,449 (GRCm39) critical splice donor site probably null
R7302:Dennd5a UTSW 7 109,504,906 (GRCm39) missense probably damaging 0.98
R7339:Dennd5a UTSW 7 109,500,366 (GRCm39) missense probably damaging 1.00
R7704:Dennd5a UTSW 7 109,496,174 (GRCm39) missense possibly damaging 0.85
R7756:Dennd5a UTSW 7 109,520,714 (GRCm39) missense possibly damaging 0.95
R7838:Dennd5a UTSW 7 109,533,196 (GRCm39) missense probably benign
R7873:Dennd5a UTSW 7 109,526,141 (GRCm39) missense probably damaging 1.00
R8124:Dennd5a UTSW 7 109,497,142 (GRCm39) missense probably damaging 1.00
R8309:Dennd5a UTSW 7 109,500,332 (GRCm39) missense probably damaging 1.00
R8345:Dennd5a UTSW 7 109,504,477 (GRCm39) missense possibly damaging 0.55
R8560:Dennd5a UTSW 7 109,533,898 (GRCm39) critical splice donor site probably null
R9104:Dennd5a UTSW 7 109,497,713 (GRCm39) critical splice donor site probably null
R9218:Dennd5a UTSW 7 109,507,592 (GRCm39) missense probably damaging 1.00
R9348:Dennd5a UTSW 7 109,498,942 (GRCm39) missense probably benign 0.00
R9348:Dennd5a UTSW 7 109,498,930 (GRCm39) critical splice donor site probably null
R9566:Dennd5a UTSW 7 109,533,254 (GRCm39) missense probably benign 0.01
R9608:Dennd5a UTSW 7 109,520,713 (GRCm39) missense probably damaging 1.00
R9756:Dennd5a UTSW 7 109,496,174 (GRCm39) missense possibly damaging 0.85
R9800:Dennd5a UTSW 7 109,500,374 (GRCm39) missense probably benign 0.40
Z1088:Dennd5a UTSW 7 109,504,480 (GRCm39) missense probably damaging 1.00
Z1088:Dennd5a UTSW 7 109,493,954 (GRCm39) missense possibly damaging 0.73
Z1177:Dennd5a UTSW 7 109,533,231 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCTATGCTCTTTCTCCTGGTAGAG -3'
(R):5'- TGATGGAGCCAATTGTTTGC -3'

Sequencing Primer
(F):5'- CTCCTGGTAGAGTCTGCAAAATG -3'
(R):5'- AGCCAATTGTTTGCTGTAGC -3'
Posted On 2016-10-26