Incidental Mutation 'R8560:Dennd5a'
ID 660989
Institutional Source Beutler Lab
Gene Symbol Dennd5a
Ensembl Gene ENSMUSG00000035901
Gene Name DENN domain containing 5A
Synonyms Rab6ip1, 1500012B19Rik, ORF37
MMRRC Submission 068523-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R8560 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 109492987-109559677 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 109533898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000080437
SMART Domains Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901

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
SMART Domains Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901

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
Meta Mutation Damage Score 0.9596 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,958,374 (GRCm39) V819A unknown Het
Ahi1 T C 10: 20,835,814 (GRCm39) V49A probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Ccdc87 C T 19: 4,891,901 (GRCm39) R798W probably damaging Het
Cd163 T C 6: 124,294,360 (GRCm39) L506S possibly damaging Het
Chsy3 T C 18: 59,543,130 (GRCm39) V756A possibly damaging Het
Cisd3 G T 11: 97,576,689 (GRCm39) W5L possibly damaging Het
Coro1c A T 5: 113,984,249 (GRCm39) H339Q probably damaging Het
Cybc1 G T 11: 121,115,041 (GRCm39) A154D probably damaging Het
D630045J12Rik T A 6: 38,126,649 (GRCm39) I1454F probably damaging Het
Dab2ip T C 2: 35,603,144 (GRCm39) S448P probably damaging Het
Depdc1a A G 3: 159,219,912 (GRCm39) K139E probably damaging Het
Dock6 T C 9: 21,714,132 (GRCm39) K1874R probably benign Het
Dst A G 1: 34,307,970 (GRCm39) H4229R probably damaging Het
Esyt3 T C 9: 99,202,375 (GRCm39) D512G probably damaging Het
Fastkd5 T A 2: 130,457,865 (GRCm39) I242L probably benign Het
Foxo3 G A 10: 42,151,278 (GRCm39) T51M possibly damaging Het
Gcfc2 T C 6: 81,900,863 (GRCm39) V59A possibly damaging Het
Gm14410 C A 2: 176,885,445 (GRCm39) C273F probably damaging Het
Gucy1b1 G T 3: 81,942,685 (GRCm39) P486T probably damaging Het
Hydin A G 8: 111,265,106 (GRCm39) N2763S probably benign Het
Ifna2 C A 4: 88,601,502 (GRCm39) W172L possibly damaging Het
Igkv6-29 T C 6: 70,115,651 (GRCm39) N48D probably benign Het
Il17ra C A 6: 120,459,226 (GRCm39) D792E possibly damaging Het
Kcnh5 G T 12: 75,023,379 (GRCm39) A563E probably damaging Het
Klra4 C A 6: 130,042,235 (GRCm39) V11L probably benign Het
Krt13 T C 11: 100,009,676 (GRCm39) E368G possibly damaging Het
Lrpprc T A 17: 85,047,495 (GRCm39) probably benign Het
Mal2 T C 15: 54,461,826 (GRCm39) I107T probably benign Het
Mc4r T C 18: 66,992,166 (GRCm39) I316V possibly damaging Het
Mdn1 T A 4: 32,743,830 (GRCm39) V4022E probably benign Het
Med12l A G 3: 58,945,026 (GRCm39) N84D probably damaging Het
Mx1 T G 16: 97,253,987 (GRCm39) T298P probably damaging Het
Myh7 T C 14: 55,213,405 (GRCm39) E1367G possibly damaging Het
Myh7b A G 2: 155,465,124 (GRCm39) E660G possibly damaging Het
Nbeal1 T A 1: 60,274,316 (GRCm39) N242K probably benign Het
Nsun5 A G 5: 135,404,743 (GRCm39) T435A probably benign Het
Or14j4 C T 17: 37,920,949 (GRCm39) S231N possibly damaging Het
Or4q3 T A 14: 50,583,794 (GRCm39) D4V probably benign Het
Or5b109 T C 19: 13,211,656 (GRCm39) L14P possibly damaging Het
Pcdhb17 C T 18: 37,619,206 (GRCm39) T332M possibly damaging Het
Pi4k2a C T 19: 42,089,151 (GRCm39) Q171* probably null Het
Plb1 T C 5: 32,460,023 (GRCm39) V421A possibly damaging Het
Prkag2 TTTTTTTTTTTTA T 5: 25,071,063 (GRCm39) probably benign Het
Prlhr A G 19: 60,456,635 (GRCm39) probably benign Het
Prpf8 T A 11: 75,382,600 (GRCm39) C435* probably null Het
Rnf183 T A 4: 62,346,735 (GRCm39) N21I probably damaging Het
Rnf41 T A 10: 128,274,222 (GRCm39) C291* probably null Het
Shd T C 17: 56,278,616 (GRCm39) S60P probably benign Het
Slc16a5 A G 11: 115,360,545 (GRCm39) T243A probably benign Het
Slc33a1 A T 3: 63,850,773 (GRCm39) I517N possibly damaging Het
Slc4a1 A C 11: 102,244,083 (GRCm39) M682R possibly damaging Het
Sphk2 A T 7: 45,361,514 (GRCm39) N245K probably damaging Het
Stx7 T C 10: 24,057,454 (GRCm39) I160T possibly damaging Het
Thbs4 T C 13: 92,891,608 (GRCm39) I836V probably damaging Het
Tmc5 A T 7: 118,268,514 (GRCm39) N861Y probably damaging Het
Trappc5 T A 8: 3,729,303 (GRCm39) W94R probably damaging Het
Trmt44 T C 5: 35,715,295 (GRCm39) I673V probably benign Het
Ttn T C 2: 76,571,615 (GRCm39) Y26426C probably damaging Het
Wdr81 C T 11: 75,336,260 (GRCm39) G591R Het
Zfp236 G A 18: 82,664,340 (GRCm39) R482W probably damaging Het
Zfp51 T A 17: 21,685,635 (GRCm39) M750K probably benign 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
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
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'- AAGAACTACTGGTGTTGGGTATACC -3'
(R):5'- CTGGCATACTAACCCCTTGC -3'

Sequencing Primer
(F):5'- ACCTCAATGATGTGTTGATCCAC -3'
(R):5'- CAAGTCTAAGGTCCTTGC -3'
Posted On 2021-03-08