Incidental Mutation 'R9104:Dennd5a'
ID 691887
Institutional Source Beutler Lab
Gene Symbol Dennd5a
Ensembl Gene ENSMUSG00000035901
Gene Name DENN domain containing 5A
Synonyms Rab6ip1, 1500012B19Rik, ORF37
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R9104 (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 109497713 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (69/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,023,108 (GRCm39) N127K probably damaging Het
Adgrl3 C T 5: 81,457,912 (GRCm39) A14V probably benign Het
Adra2b A G 2: 127,205,858 (GRCm39) Y125C probably damaging Het
Ahnak T A 19: 8,987,711 (GRCm39) H2998Q probably benign Het
B3galt1 C A 2: 67,948,406 (GRCm39) H40Q probably benign Het
Best3 T G 10: 116,860,680 (GRCm39) L647V probably benign Het
Brip1 T A 11: 86,077,897 (GRCm39) E177V possibly damaging Het
C1qtnf6 T C 15: 78,409,109 (GRCm39) D246G probably benign Het
C4b G A 17: 34,948,233 (GRCm39) T1622M probably benign Het
Catip G A 1: 74,401,682 (GRCm39) probably null Het
Ccdc138 T C 10: 58,348,982 (GRCm39) V176A probably benign Het
Ccdc85a T C 11: 28,526,879 (GRCm39) H243R probably damaging Het
Cep19 C T 16: 31,925,883 (GRCm39) T97M probably damaging Het
Copz2 G A 11: 96,747,514 (GRCm39) D166N possibly damaging Het
Dedd C T 1: 171,168,572 (GRCm39) L253F probably damaging Het
Dpp10 A T 1: 123,339,484 (GRCm39) S348T probably damaging Het
Eci3 A G 13: 35,144,382 (GRCm39) probably null Het
Egr4 A G 6: 85,490,337 (GRCm39) S15P probably benign Het
Elp6 A G 9: 110,134,397 (GRCm39) T12A probably benign Het
Ewsr1 G T 11: 5,041,367 (GRCm39) P113T unknown Het
Exosc10 T G 4: 148,664,859 (GRCm39) L789R probably benign Het
Flt4 A G 11: 49,525,161 (GRCm39) Y669C probably damaging Het
Foxred2 A T 15: 77,836,517 (GRCm39) F333I probably damaging Het
Frs2 G T 10: 116,910,070 (GRCm39) H431N probably benign Het
Gm10800 AAGAAAACTGAAAATCAT A 2: 98,497,379 (GRCm39) probably benign Het
Gm19410 T C 8: 36,247,621 (GRCm39) Y478H probably damaging Het
Gm3629 G A 14: 17,834,542 (GRCm39) R150C Het
Grik4 A C 9: 42,571,168 (GRCm39) L179R probably damaging Het
Gsdmc3 C T 15: 63,730,941 (GRCm39) probably null Het
Il20ra T A 10: 19,635,364 (GRCm39) M535K probably benign Het
Il9 A G 13: 56,628,401 (GRCm39) V96A possibly damaging Het
Itgal A G 7: 126,910,794 (GRCm39) D592G probably damaging Het
Klk1b11 C T 7: 43,427,875 (GRCm39) probably benign Het
Klk1b27 G A 7: 43,705,310 (GRCm39) W159* probably null Het
Mapk9 T C 11: 49,760,000 (GRCm39) Y105H probably damaging Het
Mmp7 A G 9: 7,697,947 (GRCm39) probably benign Het
Muc2 T C 7: 141,286,224 (GRCm39) I118T probably damaging Het
N4bp2l2 T C 5: 150,566,724 (GRCm39) N131D unknown Het
Nbea A C 3: 55,862,809 (GRCm39) S1814R probably benign Het
Nlrp9c G T 7: 26,081,837 (GRCm39) L630I probably benign Het
Or1j8 T C 2: 36,191,956 (GRCm39) V135A Het
Or6c76 T C 10: 129,612,521 (GRCm39) V261A probably damaging Het
Or8g27 G A 9: 39,128,831 (GRCm39) M59I probably damaging Het
Pbx3 C A 2: 34,114,629 (GRCm39) D102Y probably damaging Het
Pdia6 G A 12: 17,320,492 (GRCm39) V44I probably benign Het
Pkdcc G A 17: 83,528,471 (GRCm39) R280H probably damaging Het
Ppm1h A G 10: 122,638,264 (GRCm39) E178G probably benign Het
Prom1 C T 5: 44,172,161 (GRCm39) S619N probably benign Het
Prtg A C 9: 72,755,607 (GRCm39) I270L probably damaging Het
Rfx6 A T 10: 51,599,106 (GRCm39) H487L probably damaging Het
Rpl18a A C 8: 71,348,788 (GRCm39) Y63D probably benign Het
Rtl1 T A 12: 109,560,718 (GRCm39) M374L probably benign Het
Scaper A G 9: 55,819,400 (GRCm39) L105P unknown Het
Slc16a13 T A 11: 70,111,530 (GRCm39) probably benign Het
Slc6a13 A G 6: 121,313,044 (GRCm39) K487R probably benign Het
Slc7a11 T A 3: 50,332,082 (GRCm39) T459S probably benign Het
Smarcad1 A G 6: 65,075,649 (GRCm39) Q708R probably benign Het
Stat2 T C 10: 128,117,111 (GRCm39) probably null Het
Syde1 T C 10: 78,421,670 (GRCm39) H627R probably benign Het
Tas2r113 G A 6: 132,870,116 (GRCm39) R48H probably benign Het
Tbc1d16 T C 11: 119,038,626 (GRCm39) Y690C probably damaging Het
Tchh A T 3: 93,354,610 (GRCm39) H1350L unknown Het
Tex15 T A 8: 34,060,950 (GRCm39) Y127N possibly damaging Het
Thsd4 T C 9: 59,964,179 (GRCm39) T438A possibly damaging Het
Tubg1 A G 11: 101,015,099 (GRCm39) D216G probably benign Het
Tyk2 T C 9: 21,026,762 (GRCm39) D642G possibly damaging Het
Uqcc1 C T 2: 155,743,217 (GRCm39) probably null Het
Uvssa A C 5: 33,571,404 (GRCm39) K683Q probably damaging Het
Vmn1r59 A T 7: 5,457,166 (GRCm39) M198K probably benign Het
Zfp772 T A 7: 7,207,190 (GRCm39) H167L 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
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
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'- ATCACCAGTGTCCTTCCAAG -3'
(R):5'- TGCTGGAGGAATGAGTAGCC -3'

Sequencing Primer
(F):5'- AGTGTCCTTCCAAGTCTCCAAAG -3'
(R):5'- ACAGGCCTTTGTTTACCTCTAGG -3'
Posted On 2021-12-30