Incidental Mutation 'R1938:Dennd4a'
ID 213708
Institutional Source Beutler Lab
Gene Symbol Dennd4a
Ensembl Gene ENSMUSG00000053641
Gene Name DENN/MADD domain containing 4A
Synonyms F730015K02Rik
MMRRC Submission 039956-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R1938 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 64811340-64919667 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64842490 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 121 (Q121R)
Ref Sequence ENSEMBL: ENSMUSP00000037915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038890] [ENSMUST00000213926]
AlphaFold E9Q8V6
Predicted Effect probably damaging
Transcript: ENSMUST00000038890
AA Change: Q121R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: Q121R

DomainStartEndE-ValueType
internal_repeat_1 45 93 3.26e-5 PROSPERO
uDENN 169 276 1.71e-28 SMART
DENN 309 493 2.4e-73 SMART
dDENN 559 633 4.15e-27 SMART
low complexity region 724 735 N/A INTRINSIC
low complexity region 936 950 N/A INTRINSIC
low complexity region 1176 1191 N/A INTRINSIC
low complexity region 1249 1262 N/A INTRINSIC
low complexity region 1402 1417 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213437
Predicted Effect probably benign
Transcript: ENSMUST00000213926
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215025
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.8%
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 may function as a guanine nucleotide exchange factor that specifically activates ras-related protein Rab-10. This protein also contains a interferon stimulated response element-binding domain and may be involved in regulating the v-myc avian myelocytomatosis viral (MYC) oncogene. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 133 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik T C 1: 93,152,008 (GRCm38) *453W probably null Het
Abcc8 T C 7: 46,175,371 (GRCm38) K134R possibly damaging Het
Adamts17 T C 7: 67,125,072 (GRCm38) S980P probably damaging Het
Adap2 T A 11: 80,170,682 (GRCm38) I221K probably damaging Het
Adgrv1 C T 13: 81,391,757 (GRCm38) R5681Q probably damaging Het
Adipor1 T A 1: 134,423,103 (GRCm38) L30Q probably benign Het
Agpat5 A G 8: 18,878,165 (GRCm38) T249A probably benign Het
Agxt2 G T 15: 10,391,935 (GRCm38) G329V probably damaging Het
Ankrd28 A G 14: 31,705,276 (GRCm38) V801A possibly damaging Het
Ap1g2 A G 14: 55,099,772 (GRCm38) V702A possibly damaging Het
Arid3a A G 10: 79,950,706 (GRCm38) Q429R probably damaging Het
Arsb T A 13: 93,862,150 (GRCm38) L322Q probably damaging Het
Ash1l A G 3: 88,984,422 (GRCm38) T1203A probably damaging Het
Atad2 T A 15: 58,096,705 (GRCm38) N1308Y possibly damaging Het
Atp10b A T 11: 43,230,418 (GRCm38) R969S probably benign Het
Bmp10 T C 6: 87,433,720 (GRCm38) I165T possibly damaging Het
Ccne1 A G 7: 38,106,277 (GRCm38) probably null Het
Cenpe A G 3: 135,247,479 (GRCm38) N1565D probably damaging Het
Chd1 A T 17: 15,762,486 (GRCm38) E1404D probably benign Het
Chd7 G A 4: 8,847,200 (GRCm38) E1648K probably damaging Het
Chodl T C 16: 78,941,426 (GRCm38) I94T possibly damaging Het
Chsy3 T C 18: 59,409,512 (GRCm38) F574S probably damaging Het
Clpb A T 7: 101,763,656 (GRCm38) I317F probably damaging Het
Cnga3 T A 1: 37,261,873 (GRCm38) V558D possibly damaging Het
Col9a1 C T 1: 24,222,473 (GRCm38) P573S probably damaging Het
Crat A T 2: 30,413,061 (GRCm38) D71E probably benign Het
Cspg4 A G 9: 56,887,101 (GRCm38) T707A probably benign Het
Ctsr T A 13: 61,162,445 (GRCm38) R132S probably benign Het
Ctu2 T C 8: 122,479,285 (GRCm38) L255P probably damaging Het
Cyp2c69 T C 19: 39,849,366 (GRCm38) Y424C probably damaging Het
Ddx27 A T 2: 167,034,109 (GRCm38) K726N probably damaging Het
Dis3 A G 14: 99,097,590 (GRCm38) F192S probably benign Het
Ect2l C T 10: 18,144,635 (GRCm38) S487N probably benign Het
Eml1 T A 12: 108,521,396 (GRCm38) F524L possibly damaging Het
Espl1 T C 15: 102,305,042 (GRCm38) I601T probably benign Het
Fbxo40 C A 16: 36,969,351 (GRCm38) V466L probably damaging Het
Frmpd1 C T 4: 45,283,711 (GRCm38) T844M probably damaging Het
Frs2 T A 10: 117,081,106 (GRCm38) probably benign Het
Fuom G T 7: 140,099,608 (GRCm38) T133K probably benign Het
Garnl3 T A 2: 33,005,200 (GRCm38) H619L probably damaging Het
Gm4861 G T 3: 137,552,115 (GRCm38) N36K unknown Het
Gm6588 C A 5: 112,449,801 (GRCm38) C71* probably null Het
Gps2 G T 11: 69,915,369 (GRCm38) M153I probably benign Het
Gtf2ird1 A G 5: 134,415,245 (GRCm38) V52A probably damaging Het
Gtpbp8 A T 16: 44,745,422 (GRCm38) D137E probably benign Het
Haus4 A G 14: 54,544,276 (GRCm38) C213R probably damaging Het
Hdc T A 2: 126,606,397 (GRCm38) H142L possibly damaging Het
Hephl1 T C 9: 15,053,987 (GRCm38) D1069G possibly damaging Het
Herc6 T A 6: 57,625,941 (GRCm38) V535D probably damaging Het
Hipk3 A T 2: 104,430,188 (GRCm38) H1082Q possibly damaging Het
Hps5 A T 7: 46,773,267 (GRCm38) V513D probably damaging Het
Ifna13 T A 4: 88,644,175 (GRCm38) I71F probably damaging Het
Il1rl2 T C 1: 40,363,324 (GRCm38) I426T probably damaging Het
Irf5 A T 6: 29,536,739 (GRCm38) D483V probably benign Het
Jakmip3 A G 7: 139,020,138 (GRCm38) R256G probably damaging Het
Jazf1 T C 6: 52,777,615 (GRCm38) I159V probably damaging Het
Kmo A G 1: 175,651,588 (GRCm38) D230G possibly damaging Het
Lrrc74b A G 16: 17,553,194 (GRCm38) V213A probably benign Het
Ly6g5b T C 17: 35,114,728 (GRCm38) D36G possibly damaging Het
Macc1 T G 12: 119,445,731 (GRCm38) L78R probably damaging Het
Mettl4 A T 17: 94,747,857 (GRCm38) D51E possibly damaging Het
Mfap1a G A 2: 121,502,354 (GRCm38) L199F possibly damaging Het
Mmp17 G T 5: 129,602,126 (GRCm38) R363L probably damaging Het
Mrc1 G A 2: 14,319,241 (GRCm38) A1130T possibly damaging Het
Mrpl15 C T 1: 4,777,582 (GRCm38) A165T probably damaging Het
Mrpl45 G A 11: 97,315,944 (GRCm38) probably null Het
Ms4a3 C T 19: 11,635,840 (GRCm38) A85T possibly damaging Het
Mttp A T 3: 138,125,121 (GRCm38) D77E probably benign Het
Muc6 A G 7: 141,637,098 (GRCm38) L2489P probably damaging Het
Myl3 G A 9: 110,766,734 (GRCm38) E100K probably damaging Het
Nbea T A 3: 56,085,322 (GRCm38) N288Y probably damaging Het
Ncoa7 A G 10: 30,698,170 (GRCm38) V181A probably benign Het
Oat C T 7: 132,558,205 (GRCm38) V429M probably benign Het
Olfr1152 G A 2: 87,868,461 (GRCm38) V157I probably benign Het
Olfr1163 A T 2: 88,070,956 (GRCm38) L142Q probably damaging Het
Olfr1269 T G 2: 90,119,083 (GRCm38) I172L probably damaging Het
Olfr285 T A 15: 98,313,380 (GRCm38) M57L probably damaging Het
Olfr319 A T 11: 58,702,623 (GRCm38) *307C probably null Het
Olfr508 T C 7: 108,630,838 (GRCm38) I282T probably benign Het
Olfr524 A G 7: 140,202,231 (GRCm38) F180L probably benign Het
Olfr810 T A 10: 129,790,890 (GRCm38) K233M probably damaging Het
Olfr922 A G 9: 38,815,850 (GRCm38) T116A probably benign Het
Oraov1 A G 7: 144,916,468 (GRCm38) S45G probably damaging Het
Otof A G 5: 30,376,369 (GRCm38) S1464P probably benign Het
Otogl A T 10: 107,777,575 (GRCm38) Y2010N probably damaging Het
Pgap3 C T 11: 98,400,214 (GRCm38) probably null Het
Pgbd5 T A 8: 124,374,249 (GRCm38) K332* probably null Het
Pgs1 C T 11: 118,005,727 (GRCm38) P410L probably damaging Het
Pkhd1l1 G A 15: 44,500,038 (GRCm38) S618N probably benign Het
Plcb1 A T 2: 135,386,302 (GRCm38) D1073V probably damaging Het
Pola2 T A 19: 5,951,180 (GRCm38) T309S probably benign Het
Polg2 T A 11: 106,778,961 (GRCm38) H161L probably damaging Het
Postn T A 3: 54,377,612 (GRCm38) probably null Het
Ppt1 G T 4: 122,845,991 (GRCm38) C128F probably damaging Het
Ptpn12 G A 5: 20,993,263 (GRCm38) P678S probably damaging Het
Rcan3 A T 4: 135,412,501 (GRCm38) probably null Het
Rgs22 T C 15: 36,101,804 (GRCm38) N216S probably benign Het
Rgs7bp T A 13: 104,951,582 (GRCm38) D228V probably damaging Het
Rhobtb2 A T 14: 69,796,613 (GRCm38) S388T probably benign Het
Rnps1 C T 17: 24,420,390 (GRCm38) R138C unknown Het
Rpl38 T C 11: 114,671,776 (GRCm38) V36A probably benign Het
Rps7 G T 12: 28,631,753 (GRCm38) H126Q possibly damaging Het
Sec24b G T 3: 129,991,361 (GRCm38) Q999K possibly damaging Het
Slc19a3 A G 1: 83,019,368 (GRCm38) V373A possibly damaging Het
Spats2l T A 1: 57,885,782 (GRCm38) V113E probably benign Het
Ss18l1 A T 2: 180,063,345 (GRCm38) T377S unknown Het
Surf1 A G 2: 26,915,970 (GRCm38) F38L probably benign Het
Ticrr G A 7: 79,675,394 (GRCm38) R556H probably damaging Het
Tmem184b A G 15: 79,365,814 (GRCm38) S254P probably damaging Het
Tnfrsf4 G T 4: 156,016,235 (GRCm38) R237L possibly damaging Het
Tnk2 C A 16: 32,663,742 (GRCm38) probably benign Het
Tnks A T 8: 34,838,530 (GRCm38) D1191E probably damaging Het
Tnr C A 1: 159,895,037 (GRCm38) Y1017* probably null Het
Tomm34 A G 2: 164,061,006 (GRCm38) I128T probably benign Het
Trim2 G A 3: 84,177,792 (GRCm38) S540F possibly damaging Het
Trio A T 15: 27,732,891 (GRCm38) I2968N probably damaging Het
Ttc24 T C 3: 88,074,874 (GRCm38) E17G probably benign Het
Ttc41 A G 10: 86,776,214 (GRCm38) H1117R probably benign Het
Ttn A T 2: 76,762,386 (GRCm38) S20801T possibly damaging Het
Ttn A T 2: 76,735,408 (GRCm38) V28200D probably damaging Het
Ube2cbp C T 9: 86,448,787 (GRCm38) C114Y probably damaging Het
Ugt2b37 A C 5: 87,240,857 (GRCm38) L499R probably damaging Het
Vmn1r81 T C 7: 12,260,662 (GRCm38) I6M possibly damaging Het
Vmn2r97 A T 17: 18,929,331 (GRCm38) Y327F probably benign Het
Vps13b T C 15: 35,709,507 (GRCm38) S1867P probably damaging Het
Wdr11 T C 7: 129,606,607 (GRCm38) V362A probably benign Het
Zan T A 5: 137,388,939 (GRCm38) M4951L unknown Het
Zcwpw1 T A 5: 137,811,622 (GRCm38) L337Q probably damaging Het
Zfp2 A T 11: 50,899,982 (GRCm38) D411E possibly damaging Het
Zfp628 C T 7: 4,920,768 (GRCm38) T663I probably benign Het
Zfpm1 T A 8: 122,334,924 (GRCm38) probably null Het
Zfyve19 T C 2: 119,211,212 (GRCm38) S87P probably benign Het
Zswim9 T A 7: 13,260,214 (GRCm38) K672* probably null Het
Other mutations in Dennd4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Dennd4a APN 9 64,911,762 (GRCm38) missense probably damaging 1.00
IGL01610:Dennd4a APN 9 64,906,884 (GRCm38) missense probably damaging 0.99
IGL01788:Dennd4a APN 9 64,842,621 (GRCm38) missense probably benign 0.00
IGL01827:Dennd4a APN 9 64,842,561 (GRCm38) nonsense probably null
IGL01828:Dennd4a APN 9 64,842,561 (GRCm38) nonsense probably null
IGL01829:Dennd4a APN 9 64,842,561 (GRCm38) nonsense probably null
IGL01979:Dennd4a APN 9 64,894,409 (GRCm38) missense probably benign 0.00
IGL02100:Dennd4a APN 9 64,909,706 (GRCm38) splice site probably benign
IGL02339:Dennd4a APN 9 64,842,561 (GRCm38) nonsense probably null
IGL02341:Dennd4a APN 9 64,842,561 (GRCm38) nonsense probably null
IGL02584:Dennd4a APN 9 64,851,298 (GRCm38) missense probably damaging 1.00
IGL02607:Dennd4a APN 9 64,862,327 (GRCm38) missense probably damaging 0.99
IGL02654:Dennd4a APN 9 64,910,191 (GRCm38) splice site probably benign
IGL02701:Dennd4a APN 9 64,897,353 (GRCm38) missense possibly damaging 0.50
IGL03051:Dennd4a APN 9 64,862,414 (GRCm38) missense probably damaging 1.00
IGL03257:Dennd4a APN 9 64,871,874 (GRCm38) missense possibly damaging 0.93
IGL03346:Dennd4a APN 9 64,888,526 (GRCm38) missense possibly damaging 0.47
IGL03349:Dennd4a APN 9 64,888,974 (GRCm38) missense probably damaging 1.00
IGL03398:Dennd4a APN 9 64,871,882 (GRCm38) missense probably benign 0.32
R0010:Dennd4a UTSW 9 64,896,715 (GRCm38) missense probably benign 0.00
R0010:Dennd4a UTSW 9 64,896,715 (GRCm38) missense probably benign 0.00
R0129:Dennd4a UTSW 9 64,893,294 (GRCm38) missense probably damaging 1.00
R0220:Dennd4a UTSW 9 64,852,445 (GRCm38) missense probably damaging 1.00
R0396:Dennd4a UTSW 9 64,862,391 (GRCm38) missense probably damaging 1.00
R0881:Dennd4a UTSW 9 64,851,383 (GRCm38) critical splice donor site probably null
R1225:Dennd4a UTSW 9 64,911,675 (GRCm38) missense probably benign 0.03
R1311:Dennd4a UTSW 9 64,910,004 (GRCm38) missense probably benign 0.34
R1448:Dennd4a UTSW 9 64,906,045 (GRCm38) missense possibly damaging 0.95
R1450:Dennd4a UTSW 9 64,911,665 (GRCm38) missense probably benign 0.03
R1630:Dennd4a UTSW 9 64,871,882 (GRCm38) missense probably benign 0.32
R1709:Dennd4a UTSW 9 64,889,605 (GRCm38) missense possibly damaging 0.92
R1824:Dennd4a UTSW 9 64,859,358 (GRCm38) critical splice donor site probably null
R1851:Dennd4a UTSW 9 64,862,030 (GRCm38) missense probably damaging 1.00
R1870:Dennd4a UTSW 9 64,897,234 (GRCm38) missense probably benign 0.00
R1900:Dennd4a UTSW 9 64,897,336 (GRCm38) missense probably damaging 0.99
R1911:Dennd4a UTSW 9 64,889,086 (GRCm38) missense probably damaging 1.00
R1954:Dennd4a UTSW 9 64,852,467 (GRCm38) missense probably benign 0.02
R1955:Dennd4a UTSW 9 64,852,467 (GRCm38) missense probably benign 0.02
R2049:Dennd4a UTSW 9 64,889,605 (GRCm38) missense possibly damaging 0.92
R2129:Dennd4a UTSW 9 64,905,974 (GRCm38) splice site probably null
R2138:Dennd4a UTSW 9 64,889,337 (GRCm38) missense probably damaging 1.00
R2929:Dennd4a UTSW 9 64,852,417 (GRCm38) missense possibly damaging 0.85
R3083:Dennd4a UTSW 9 64,906,081 (GRCm38) missense probably benign 0.03
R3108:Dennd4a UTSW 9 64,912,387 (GRCm38) missense probably benign 0.23
R3176:Dennd4a UTSW 9 64,888,993 (GRCm38) missense probably damaging 1.00
R3177:Dennd4a UTSW 9 64,888,993 (GRCm38) missense probably damaging 1.00
R3276:Dennd4a UTSW 9 64,888,993 (GRCm38) missense probably damaging 1.00
R3277:Dennd4a UTSW 9 64,888,993 (GRCm38) missense probably damaging 1.00
R3890:Dennd4a UTSW 9 64,872,028 (GRCm38) missense probably damaging 1.00
R3953:Dennd4a UTSW 9 64,852,575 (GRCm38) missense probably damaging 1.00
R3963:Dennd4a UTSW 9 64,862,331 (GRCm38) missense probably damaging 1.00
R4059:Dennd4a UTSW 9 64,911,892 (GRCm38) missense possibly damaging 0.92
R4499:Dennd4a UTSW 9 64,910,123 (GRCm38) missense possibly damaging 0.78
R4500:Dennd4a UTSW 9 64,910,123 (GRCm38) missense possibly damaging 0.78
R4501:Dennd4a UTSW 9 64,910,123 (GRCm38) missense possibly damaging 0.78
R4671:Dennd4a UTSW 9 64,894,407 (GRCm38) missense probably benign
R4701:Dennd4a UTSW 9 64,897,357 (GRCm38) missense possibly damaging 0.91
R4821:Dennd4a UTSW 9 64,897,249 (GRCm38) missense possibly damaging 0.92
R4829:Dennd4a UTSW 9 64,889,056 (GRCm38) missense probably damaging 1.00
R4876:Dennd4a UTSW 9 64,896,590 (GRCm38) missense probably benign
R4881:Dennd4a UTSW 9 64,838,844 (GRCm38) missense possibly damaging 0.77
R4962:Dennd4a UTSW 9 64,906,003 (GRCm38) missense probably benign 0.00
R5225:Dennd4a UTSW 9 64,888,928 (GRCm38) missense possibly damaging 0.94
R5557:Dennd4a UTSW 9 64,904,227 (GRCm38) missense probably benign 0.07
R5649:Dennd4a UTSW 9 64,851,209 (GRCm38) splice site probably null
R5868:Dennd4a UTSW 9 64,896,729 (GRCm38) missense probably benign 0.02
R5876:Dennd4a UTSW 9 64,911,755 (GRCm38) missense probably damaging 1.00
R6052:Dennd4a UTSW 9 64,886,945 (GRCm38) missense probably damaging 1.00
R6411:Dennd4a UTSW 9 64,871,899 (GRCm38) missense probably benign 0.04
R6596:Dennd4a UTSW 9 64,852,420 (GRCm38) missense probably damaging 1.00
R6668:Dennd4a UTSW 9 64,886,965 (GRCm38) missense probably damaging 1.00
R6915:Dennd4a UTSW 9 64,852,489 (GRCm38) nonsense probably null
R7056:Dennd4a UTSW 9 64,906,923 (GRCm38) missense possibly damaging 0.89
R7107:Dennd4a UTSW 9 64,894,399 (GRCm38) missense possibly damaging 0.79
R7203:Dennd4a UTSW 9 64,896,474 (GRCm38) missense probably benign 0.05
R7238:Dennd4a UTSW 9 64,861,956 (GRCm38) missense probably damaging 1.00
R7373:Dennd4a UTSW 9 64,897,269 (GRCm38) missense probably benign 0.01
R7454:Dennd4a UTSW 9 64,852,570 (GRCm38) missense probably damaging 1.00
R7546:Dennd4a UTSW 9 64,873,044 (GRCm38) missense probably damaging 1.00
R7590:Dennd4a UTSW 9 64,888,587 (GRCm38) missense probably benign 0.01
R7662:Dennd4a UTSW 9 64,852,431 (GRCm38) missense probably damaging 1.00
R7782:Dennd4a UTSW 9 64,906,920 (GRCm38) missense probably damaging 0.98
R7909:Dennd4a UTSW 9 64,872,993 (GRCm38) critical splice acceptor site probably null
R7976:Dennd4a UTSW 9 64,852,512 (GRCm38) missense possibly damaging 0.95
R8026:Dennd4a UTSW 9 64,873,030 (GRCm38) missense probably damaging 1.00
R8034:Dennd4a UTSW 9 64,888,568 (GRCm38) missense probably benign 0.01
R8089:Dennd4a UTSW 9 64,849,175 (GRCm38) missense probably damaging 1.00
R8298:Dennd4a UTSW 9 64,906,875 (GRCm38) missense probably benign 0.00
R8397:Dennd4a UTSW 9 64,889,109 (GRCm38) missense probably benign
R8425:Dennd4a UTSW 9 64,838,974 (GRCm38) missense probably damaging 1.00
R8495:Dennd4a UTSW 9 64,886,879 (GRCm38) missense probably damaging 1.00
R8855:Dennd4a UTSW 9 64,912,390 (GRCm38) missense probably benign
R9219:Dennd4a UTSW 9 64,889,094 (GRCm38) missense probably damaging 0.96
R9275:Dennd4a UTSW 9 64,842,624 (GRCm38) missense probably damaging 1.00
R9376:Dennd4a UTSW 9 64,912,692 (GRCm38) missense probably benign 0.00
R9485:Dennd4a UTSW 9 64,907,106 (GRCm38) nonsense probably null
R9672:Dennd4a UTSW 9 64,893,358 (GRCm38) missense probably benign
R9746:Dennd4a UTSW 9 64,894,511 (GRCm38) missense probably benign
X0026:Dennd4a UTSW 9 64,897,320 (GRCm38) missense possibly damaging 0.67
Z1088:Dennd4a UTSW 9 64,872,022 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACCCAACTCTTTTGCAGAAG -3'
(R):5'- GTCGACCTTGCAGAATGTGTG -3'

Sequencing Primer
(F):5'- CCCAACTCTTTTGCAGAAGATGGAG -3'
(R):5'- GTGGTGGGCTCTCTCCTTTAC -3'
Posted On 2014-07-14