Incidental Mutation 'R1954:Dennd4a'
ID 217572
Institutional Source Beutler Lab
Gene Symbol Dennd4a
Ensembl Gene ENSMUSG00000053641
Gene Name DENN/MADD domain containing 4A
Synonyms F730015K02Rik
MMRRC Submission 039968-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.465) question?
Stock # R1954 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 64811340-64919667 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 64852467 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 285 (T285S)
Ref Sequence ENSEMBL: ENSMUSP00000037915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038890]
AlphaFold E9Q8V6
Predicted Effect probably benign
Transcript: ENSMUST00000038890
AA Change: T285S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: T285S

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: ENSMUST00000215025
Meta Mutation Damage Score 0.0649 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (101/104)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 T A 9: 30,910,708 (GRCm38) M478L probably benign Het
Akap8l T A 17: 32,336,736 (GRCm38) Y123F possibly damaging Het
Anapc4 T G 5: 52,846,625 (GRCm38) probably benign Het
Arap3 A G 18: 37,982,002 (GRCm38) V987A probably damaging Het
Atp2b4 T A 1: 133,739,992 (GRCm38) T105S probably damaging Het
Atp6v0d1 A G 8: 105,565,893 (GRCm38) L7P probably damaging Het
Atp6v1b2 T C 8: 69,105,903 (GRCm38) V341A possibly damaging Het
Baz2b C A 2: 59,968,743 (GRCm38) A346S probably benign Het
Brpf3 G A 17: 28,806,559 (GRCm38) S202N probably benign Het
Btnl4 T C 17: 34,472,930 (GRCm38) K233E possibly damaging Het
Capn7 A G 14: 31,360,150 (GRCm38) T438A probably damaging Het
Cars2 A T 8: 11,550,286 (GRCm38) Y68N probably damaging Het
Cbx2 G T 11: 119,028,340 (GRCm38) G244W probably damaging Het
Ccr4 A T 9: 114,492,685 (GRCm38) V104D probably damaging Het
Cdc5l T C 17: 45,426,516 (GRCm38) probably null Het
Cep170 A T 1: 176,756,384 (GRCm38) C810S probably benign Het
Cfap299 A T 5: 98,566,753 (GRCm38) probably benign Het
Clp1 T C 2: 84,724,051 (GRCm38) D258G probably damaging Het
Clstn3 T C 6: 124,459,298 (GRCm38) E164G possibly damaging Het
Col28a1 T C 6: 7,998,516 (GRCm38) E1131G probably damaging Het
Cps1 A G 1: 67,195,196 (GRCm38) D914G possibly damaging Het
Ctnnal1 C T 4: 56,817,242 (GRCm38) probably benign Het
Cyp2c38 A G 19: 39,404,687 (GRCm38) L312P probably damaging Het
Cytip T C 2: 58,148,253 (GRCm38) N99D possibly damaging Het
Dhx8 A G 11: 101,753,279 (GRCm38) S842G probably damaging Het
Disp1 A T 1: 183,088,543 (GRCm38) M771K probably damaging Het
Dnah17 A G 11: 118,024,731 (GRCm38) I4326T probably damaging Het
Efcab7 T C 4: 99,900,690 (GRCm38) F345L probably damaging Het
Erc1 G T 6: 119,797,305 (GRCm38) Q230K probably damaging Het
Ern1 A T 11: 106,421,974 (GRCm38) probably benign Het
Espl1 T C 15: 102,298,388 (GRCm38) Y96H probably damaging Het
Fam135a A T 1: 24,029,602 (GRCm38) L533I probably damaging Het
Fat2 G A 11: 55,311,084 (GRCm38) T388I probably benign Het
Galnt1 T G 18: 24,271,774 (GRCm38) probably benign Het
Glmn A G 5: 107,572,377 (GRCm38) F212S probably damaging Het
Gm3604 A T 13: 62,369,211 (GRCm38) N444K probably damaging Het
Gvin-ps5 A C 7: 106,329,681 (GRCm38) D336E probably damaging Het
H1f2 T C 13: 23,739,402 (GRCm38) V185A unknown Het
H1f3 A G 13: 23,555,516 (GRCm38) probably benign Het
H2-M10.3 T C 17: 36,367,498 (GRCm38) D145G probably damaging Het
Hic2 T A 16: 17,258,993 (GRCm38) L562Q probably damaging Het
Hip1r G T 5: 124,001,844 (GRCm38) E1003D probably damaging Het
Hsfy2 C T 1: 56,637,183 (GRCm38) C65Y probably benign Het
Inpp1 T C 1: 52,794,629 (GRCm38) T103A probably damaging Het
Ints5 T C 19: 8,894,896 (GRCm38) V73A probably damaging Het
Iqch A T 9: 63,548,016 (GRCm38) D166E probably benign Het
Klhdc3 A T 17: 46,677,975 (GRCm38) N96K probably damaging Het
Klk1b8 C T 7: 43,953,848 (GRCm38) probably benign Het
Klrb1 T C 6: 128,723,073 (GRCm38) probably null Het
Krt71 C A 15: 101,735,466 (GRCm38) G446* probably null Het
Lars1 G A 18: 42,210,050 (GRCm38) R1101C probably damaging Het
Lemd3 G T 10: 120,978,940 (GRCm38) S129R probably damaging Het
Lrp1b A G 2: 40,858,441 (GRCm38) L3015P probably damaging Het
Mdga2 T C 12: 66,486,708 (GRCm38) probably benign Het
Mlst8 A T 17: 24,477,221 (GRCm38) I178N probably damaging Het
Mon2 A T 10: 123,038,483 (GRCm38) I320N probably damaging Het
Morc2b T C 17: 33,137,490 (GRCm38) Y436C probably damaging Het
Moxd1 T A 10: 24,279,883 (GRCm38) M295K probably benign Het
Mrps5 T A 2: 127,596,897 (GRCm38) probably null Het
Mtor C A 4: 148,468,273 (GRCm38) S744R probably damaging Het
Myo3a T A 2: 22,241,226 (GRCm38) D61E probably damaging Het
Nars1 C T 18: 64,500,564 (GRCm38) R545Q probably damaging Het
Ncoa6 A G 2: 155,406,821 (GRCm38) V1521A possibly damaging Het
Ndor1 T C 2: 25,255,293 (GRCm38) E20G possibly damaging Het
Nipsnap3b T C 4: 53,017,213 (GRCm38) probably benign Het
Notch3 G T 17: 32,166,678 (GRCm38) A39E probably benign Het
Olfr237-ps1 T C 6: 43,153,977 (GRCm38) I224T possibly damaging Het
Or1j16 A G 2: 36,640,215 (GRCm38) M59V possibly damaging Het
Or6z3 G T 7: 6,461,145 (GRCm38) W212L probably benign Het
Otud3 T C 4: 138,898,032 (GRCm38) K237R possibly damaging Het
Papola T A 12: 105,828,273 (GRCm38) probably null Het
Parl T A 16: 20,302,327 (GRCm38) M1L possibly damaging Het
Parp14 G T 16: 35,858,301 (GRCm38) N432K probably benign Het
Patz1 T G 11: 3,291,088 (GRCm38) S159A probably damaging Het
Prpf6 T G 2: 181,632,077 (GRCm38) M338R probably benign Het
Psd3 A G 8: 67,697,075 (GRCm38) L343P probably damaging Het
Ptpn23 A T 9: 110,386,325 (GRCm38) N1422K probably damaging Het
Rab19 A T 6: 39,384,082 (GRCm38) T55S probably benign Het
Sh3yl1 A G 12: 30,922,333 (GRCm38) K34E possibly damaging Het
Skint8 T A 4: 111,950,081 (GRCm38) F321L possibly damaging Het
Slc25a46 A T 18: 31,600,241 (GRCm38) probably null Het
Slc26a3 T C 12: 31,450,816 (GRCm38) L184S probably damaging Het
Slc39a10 A T 1: 46,835,174 (GRCm38) S323T possibly damaging Het
Sorbs2 G T 8: 45,745,738 (GRCm38) R20L probably benign Het
Stk32a A T 18: 43,212,025 (GRCm38) D13V probably benign Het
Tab2 T C 10: 7,919,330 (GRCm38) T463A probably damaging Het
Tenm2 T A 11: 36,047,547 (GRCm38) N1433I possibly damaging Het
Tmem200c A T 17: 68,840,961 (GRCm38) I180F probably damaging Het
Tmem232 G T 17: 65,484,487 (GRCm38) H129N probably benign Het
Tmem242 T C 17: 5,439,579 (GRCm38) T47A possibly damaging Het
Ube2d1 A T 10: 71,285,123 (GRCm38) M1K probably null Het
Ube2frt A G 12: 36,090,596 (GRCm38) probably benign Het
Uckl1 T C 2: 181,570,527 (GRCm38) Q332R probably benign Het
Unc5b T C 10: 60,769,265 (GRCm38) probably benign Het
Vmn2r114 T C 17: 23,311,112 (GRCm38) Y107C probably benign Het
Vmn2r82 A T 10: 79,396,056 (GRCm38) S630C probably damaging Het
Wdr25 T A 12: 108,898,541 (GRCm38) V204E probably damaging Het
Xab2 T A 8: 3,616,094 (GRCm38) D227V probably damaging Het
Zfp286 A G 11: 62,783,708 (GRCm38) S104P possibly damaging Het
Zfp345 T C 2: 150,474,821 (GRCm38) D22G probably damaging 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
R1938:Dennd4a UTSW 9 64,842,490 (GRCm38) missense probably damaging 1.00
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'- GTGTTCCTAGTCCCTGACAC -3'
(R):5'- CATCTTGGATTGTCAATGCTTTCTG -3'

Sequencing Primer
(F):5'- AGTCCCTGACACCTCACCTG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2014-08-01