Incidental Mutation 'R7838:Dennd5a'
ID 606102
Institutional Source Beutler Lab
Gene Symbol Dennd5a
Ensembl Gene ENSMUSG00000035901
Gene Name DENN domain containing 5A
Synonyms Rab6ip1, 1500012B19Rik, ORF37
MMRRC Submission 045892-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R7838 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 109492987-109559677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 109533196 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 191 (F191L)
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 probably benign
Transcript: ENSMUST00000080437
AA Change: F191L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901
AA Change: F191L

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: F167L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901
AA Change: F167L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (64/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik G A 10: 87,042,061 (GRCm39) probably null Het
4930522H14Rik G A 4: 109,362,776 (GRCm39) A181V probably damaging Het
Alk A T 17: 72,274,549 (GRCm39) H587Q possibly damaging Het
Ascc3 A G 10: 50,604,393 (GRCm39) Y1371C probably benign Het
Asxl1 T C 2: 153,238,733 (GRCm39) F354S probably damaging Het
Cachd1 A T 4: 100,824,211 (GRCm39) I551F possibly damaging Het
Cacna1e T C 1: 154,347,149 (GRCm39) E1068G probably benign Het
Cdc27 A T 11: 104,403,830 (GRCm39) M644K probably damaging Het
Chl1 T C 6: 103,668,635 (GRCm39) V456A probably benign Het
Ctxn1 A G 8: 4,308,461 (GRCm39) Y57H probably damaging Het
Cyp2c54 A G 19: 40,058,688 (GRCm39) I248T probably benign Het
Dchs2 A G 3: 83,211,834 (GRCm39) T1878A probably benign Het
Ddi2 A G 4: 141,412,561 (GRCm39) V117A probably benign Het
Dnm3 C T 1: 161,819,619 (GRCm39) R851H possibly damaging Het
Eif3l G A 15: 78,973,799 (GRCm39) D405N possibly damaging Het
Espn T A 4: 152,215,738 (GRCm39) D507V possibly damaging Het
Fam83f A T 15: 80,576,704 (GRCm39) S452C possibly damaging Het
Fbxo22 A C 9: 55,125,651 (GRCm39) E171D probably damaging Het
Fgl2 T C 5: 21,577,752 (GRCm39) V13A probably benign Het
Fsip2 A G 2: 82,807,044 (GRCm39) H1121R probably benign Het
G0s2 A T 1: 192,955,081 (GRCm39) M1K probably null Het
Gnptab G A 10: 88,276,254 (GRCm39) probably null Het
Grm1 G A 10: 10,956,096 (GRCm39) P63S probably benign Het
Grsf1 G A 5: 88,823,523 (GRCm39) probably benign Het
Hcfc1r1 G A 17: 23,892,985 (GRCm39) G10D probably damaging Het
Hdac1-ps A C 17: 78,799,447 (GRCm39) E146A probably damaging Het
Igsf11 T C 16: 38,827,565 (GRCm39) V41A possibly damaging Het
Il17a C A 1: 20,802,351 (GRCm39) A20E probably benign Het
Kcnv2 A G 19: 27,300,332 (GRCm39) Y61C probably damaging Het
Kmt2c A G 5: 25,499,697 (GRCm39) M481T possibly damaging Het
Krt40 A T 11: 99,430,961 (GRCm39) C263S possibly damaging Het
Larp1 T C 11: 57,938,540 (GRCm39) V441A possibly damaging Het
Lrwd1 T C 5: 136,160,983 (GRCm39) E300G probably damaging Het
Mcoln3 G T 3: 145,845,230 (GRCm39) W475C probably damaging Het
Mdga1 A G 17: 30,058,796 (GRCm39) I30T probably benign Het
Mmd T A 11: 90,158,433 (GRCm39) V181D probably benign Het
Muc4 T A 16: 32,752,558 (GRCm38) L812* probably null Het
Mycbp2 T C 14: 103,414,729 (GRCm39) D2561G probably benign Het
Myh11 T A 16: 14,027,481 (GRCm39) E1251V Het
Myl12a G T 17: 71,303,166 (GRCm39) N95K probably benign Het
Myo1h A G 5: 114,466,872 (GRCm39) probably null Het
Myrf G A 19: 10,196,983 (GRCm39) P266S possibly damaging Het
Ncf1 A G 5: 134,250,949 (GRCm39) V330A possibly damaging Het
Nfasc T C 1: 132,533,287 (GRCm39) D638G probably damaging Het
Nkapl T C 13: 21,651,437 (GRCm39) K392R possibly damaging Het
Or2y3 A G 17: 38,393,293 (GRCm39) V192A probably benign Het
Or6a2 A T 7: 106,600,514 (GRCm39) C184* probably null Het
Or8b50 A G 9: 38,517,708 (GRCm39) probably benign Het
Pelo T A 13: 115,226,184 (GRCm39) N91I probably damaging Het
Ptk2b T C 14: 66,395,850 (GRCm39) N836D probably benign Het
Pwp2 A T 10: 78,018,778 (GRCm39) probably null Het
Slc44a1 G A 4: 53,517,657 (GRCm39) V127I probably benign Het
Snx13 A G 12: 35,155,174 (GRCm39) T413A probably benign Het
Spaca7 C T 8: 12,635,696 (GRCm39) P71S probably damaging Het
Spef2 A T 15: 9,609,637 (GRCm39) M1296K possibly damaging Het
Suco G A 1: 161,656,890 (GRCm39) A978V probably benign Het
Tcerg1 A G 18: 42,670,002 (GRCm39) E494G probably benign Het
Tenm2 A G 11: 35,997,626 (GRCm39) V821A probably benign Het
Tg T A 15: 66,565,112 (GRCm39) D1151E probably benign Het
Trp53bp2 A G 1: 182,283,384 (GRCm39) E1040G probably damaging Het
Ubap2 A T 4: 41,233,655 (GRCm39) N79K probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Yars2 T G 16: 16,122,385 (GRCm39) probably null Het
Ylpm1 A G 12: 85,095,640 (GRCm39) I1847V 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
R5586:Dennd5a UTSW 7 109,504,928 (GRCm39) missense possibly damaging 0.72
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
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'- TGGAAGTGGCACCTCATAGAG -3'
(R):5'- TTATCACAAGGGAGGATGGTTCTC -3'

Sequencing Primer
(F):5'- GGCACCTCATAGAGTACGTTG -3'
(R):5'- CGGACATTTGGGTTTGCTCTTACC -3'
Posted On 2019-12-20