Incidental Mutation 'R4914:Dennd5a'
ID 379816
Institutional Source Beutler Lab
Gene Symbol Dennd5a
Ensembl Gene ENSMUSG00000035901
Gene Name DENN domain containing 5A
Synonyms Rab6ip1, 1500012B19Rik, ORF37
MMRRC Submission 042516-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R4914 (G1)
Quality Score 147
Status Not validated
Chromosome 7
Chromosomal Location 109492987-109559677 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109500296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 943 (F943S)
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 damaging
Transcript: ENSMUST00000080437
AA Change: F943S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901
AA Change: F943S

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 possibly damaging
Transcript: ENSMUST00000106722
AA Change: F919S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901
AA Change: F919S

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: ENSMUST00000130354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134331
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156858
Meta Mutation Damage Score 0.7126 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,870,423 (GRCm39) V281M probably damaging Het
Ap1b1 C T 11: 4,974,400 (GRCm39) T363I possibly damaging Het
Apobec2 T C 17: 48,730,153 (GRCm39) E171G probably benign Het
Arhgef1 T A 7: 24,623,264 (GRCm39) L436Q probably damaging Het
Atxn2 T A 5: 121,887,159 (GRCm39) D276E probably damaging Het
AU040320 A T 4: 126,729,469 (GRCm39) K544* probably null Het
Baz2b T A 2: 59,744,387 (GRCm39) T1373S possibly damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bdp1 A G 13: 100,192,844 (GRCm39) V1330A probably benign Het
Bfsp1 C T 2: 143,669,391 (GRCm39) R396Q probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Cabs1 T C 5: 88,128,296 (GRCm39) Y316H probably damaging Het
Carmil2 A G 8: 106,420,175 (GRCm39) K908E possibly damaging Het
Ccdc188 C A 16: 18,036,083 (GRCm39) P86Q probably benign Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cemip2 G A 19: 21,786,653 (GRCm39) V472I probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dclk2 A T 3: 86,732,049 (GRCm39) probably null Het
Disp2 A T 2: 118,620,935 (GRCm39) S556C probably damaging Het
Dnai3 A G 3: 145,772,582 (GRCm39) I488T probably damaging Het
Dpp4 A T 2: 62,178,236 (GRCm39) M632K probably benign Het
E030030I06Rik G A 10: 21,990,197 (GRCm39) T192M possibly damaging Het
Ece2 C T 16: 20,462,820 (GRCm39) R582C probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Emc1 C T 4: 139,102,476 (GRCm39) R924* probably null Het
Etaa1 A T 11: 17,896,532 (GRCm39) S528R probably benign Het
Exoc2 A T 13: 31,060,796 (GRCm39) N569K probably benign Het
Fasn T G 11: 120,707,472 (GRCm39) N799T probably benign Het
Fbxo3 T G 2: 103,885,311 (GRCm39) N388K probably damaging Het
Fbxw16 C T 9: 109,267,245 (GRCm39) V329I probably benign Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fermt1 A G 2: 132,748,760 (GRCm39) V621A probably damaging Het
Fnbp4 A G 2: 90,581,513 (GRCm39) T189A probably benign Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
G6pd2 T A 5: 61,967,672 (GRCm39) Y482* probably null Het
Gfra1 A T 19: 58,255,522 (GRCm39) S308R probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gper1 A G 5: 139,412,623 (GRCm39) I323V probably benign Het
Grm5 C A 7: 87,779,337 (GRCm39) R958S probably benign Het
H2-DMb2 A G 17: 34,369,503 (GRCm39) T85A probably benign Het
Hgsnat A G 8: 26,454,866 (GRCm39) S220P probably damaging Het
Hspa12a A T 19: 58,787,884 (GRCm39) M646K probably damaging Het
Inpp5f A T 7: 128,286,840 (GRCm39) D573V probably damaging Het
Jmjd1c A G 10: 67,054,750 (GRCm39) N344D probably damaging Het
Kif1c A G 11: 70,599,681 (GRCm39) E471G probably damaging Het
Lalba T A 15: 98,380,061 (GRCm39) N63I probably benign Het
Mcoln1 T A 8: 3,557,483 (GRCm39) L163* probably null Het
Mllt1 T C 17: 57,206,813 (GRCm39) T344A probably benign Het
Mpzl2 T A 9: 44,955,146 (GRCm39) D114E probably benign Het
Myef2 T A 2: 124,951,659 (GRCm39) K259* probably null Het
Myh8 C A 11: 67,183,510 (GRCm39) D740E probably damaging Het
Myo1b A T 1: 51,863,367 (GRCm39) probably null Het
Nfix T C 8: 85,498,458 (GRCm39) I172V probably benign Het
Or1b1 A T 2: 36,995,170 (GRCm39) I164N possibly damaging Het
Or2h2 T C 17: 37,396,883 (GRCm39) Y58C probably damaging Het
Or2w1b A T 13: 21,300,567 (GRCm39) Q235L probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Orc1 T C 4: 108,461,755 (GRCm39) F584S probably damaging Het
Osgin1 C A 8: 120,169,283 (GRCm39) A60D possibly damaging Het
Pde4dip C A 3: 97,622,644 (GRCm39) V1522L probably benign Het
Phactr1 A G 13: 43,287,439 (GRCm39) T556A possibly damaging Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Ppp1r1a A G 15: 103,446,265 (GRCm39) V14A probably damaging Het
Prkcd A T 14: 30,327,395 (GRCm39) probably null Het
Ranbp17 T C 11: 33,163,425 (GRCm39) S1082G probably benign Het
Rere T A 4: 150,703,601 (GRCm39) W1528R probably damaging Het
Rnf103 T A 6: 71,487,248 (GRCm39) F626L possibly damaging Het
Rsrc2 A G 5: 123,877,613 (GRCm39) probably benign Het
Scin T A 12: 40,119,373 (GRCm39) I552F possibly damaging Het
Scn3a T C 2: 65,291,799 (GRCm39) N1649S probably damaging Het
Slain2 T A 5: 73,115,609 (GRCm39) M448K probably benign Het
Slc25a54 T C 3: 109,018,395 (GRCm39) F292L probably benign Het
Slc4a1 A G 11: 102,243,279 (GRCm39) V784A probably damaging Het
Slco1b2 G A 6: 141,615,096 (GRCm39) V334I probably benign Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Smg8 T C 11: 86,971,536 (GRCm39) E745G probably damaging Het
Smyd1 T G 6: 71,196,321 (GRCm39) I322L probably benign Het
Snx13 G A 12: 35,182,032 (GRCm39) V694I possibly damaging Het
Sox6 T C 7: 115,076,199 (GRCm39) D814G probably damaging Het
Spag6 A T 2: 18,750,360 (GRCm39) I469F probably benign Het
Spsb2 A C 6: 124,786,711 (GRCm39) E148A probably benign Het
Srprb C A 9: 103,079,147 (GRCm39) V747L possibly damaging Het
Stam A G 2: 14,107,227 (GRCm39) E16G probably damaging Het
Taar5 A T 10: 23,847,468 (GRCm39) I289F possibly damaging Het
Tgif1 C T 17: 71,152,242 (GRCm39) R70H probably damaging Het
Top2a A T 11: 98,893,786 (GRCm39) L1036H probably damaging Het
Tph1 T A 7: 46,303,283 (GRCm39) I232F probably damaging Het
Ttn T C 2: 76,577,175 (GRCm39) T24573A probably damaging Het
Tub C T 7: 108,620,161 (GRCm39) R102* probably null Het
Ube2n T A 10: 95,377,607 (GRCm39) W129R possibly damaging Het
Usp8 A T 2: 126,562,060 (GRCm39) K85* probably null Het
Vmn2r81 A T 10: 79,106,357 (GRCm39) K445M probably null Het
Vps45 T C 3: 95,926,943 (GRCm39) T535A probably damaging Het
Zfp1007 A G 5: 109,826,396 (GRCm39) S59P probably damaging Het
Zfp157 T C 5: 138,454,557 (GRCm39) S252P possibly damaging Het
Zfp605 T A 5: 110,275,567 (GRCm39) C228* probably null Het
Zfp791 T A 8: 85,837,580 (GRCm39) I95L 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
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
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'- GTCTTAGCTACACAAAGAGACTCC -3'
(R):5'- AGATCCTAAGGAGCTCGTGG -3'

Sequencing Primer
(F):5'- AGACTCCTTCTCAAACATCAAGG -3'
(R):5'- CCCATCTACTTGTGAAAGTGAGC -3'
Posted On 2016-04-15