Incidental Mutation 'R1900:Dennd4a'
ID 214205
Institutional Source Beutler Lab
Gene Symbol Dennd4a
Ensembl Gene ENSMUSG00000053641
Gene Name DENN/MADD domain containing 4A
Synonyms F730015K02Rik
MMRRC Submission 039920-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R1900 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 64811340-64919667 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64897336 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1319 (V1319A)
Ref Sequence ENSEMBL: ENSMUSP00000037915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038890]
AlphaFold E9Q8V6
Predicted Effect probably damaging
Transcript: ENSMUST00000038890
AA Change: V1319A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: V1319A

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: ENSMUST00000216098
Meta Mutation Damage Score 0.1705 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 96% (100/104)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,770,583 (GRCm38) T478A probably damaging Het
6330409D20Rik T C 2: 32,740,547 (GRCm38) probably benign Het
Ago4 T C 4: 126,516,936 (GRCm38) I221V probably benign Het
Ankfy1 C T 11: 72,754,407 (GRCm38) Q771* probably null Het
Ankrd50 T C 3: 38,455,387 (GRCm38) T944A probably damaging Het
AU040320 A C 4: 126,853,280 (GRCm38) probably null Het
Axdnd1 A G 1: 156,380,774 (GRCm38) probably null Het
Cdadc1 A T 14: 59,586,532 (GRCm38) D170E probably damaging Het
Cep164 C A 9: 45,809,825 (GRCm38) R93L probably damaging Het
Cep250 T C 2: 155,985,374 (GRCm38) probably null Het
Cfdp1 G A 8: 111,768,729 (GRCm38) R286* probably null Het
Chrdl2 A G 7: 100,033,664 (GRCm38) I377V possibly damaging Het
Cntrob A T 11: 69,308,054 (GRCm38) S623T probably benign Het
Col6a5 C T 9: 105,931,213 (GRCm38) G879S unknown Het
Cyp2c38 T A 19: 39,438,312 (GRCm38) I182F probably benign Het
Dysf T G 6: 84,039,567 (GRCm38) V70G probably damaging Het
Edn3 A G 2: 174,761,605 (GRCm38) T49A possibly damaging Het
Elac1 C G 18: 73,739,245 (GRCm38) L226F probably damaging Het
Eps8l3 A G 3: 107,890,952 (GRCm38) D445G probably benign Het
Fam71a T A 1: 191,164,434 (GRCm38) K4M possibly damaging Het
Fgf11 G T 11: 69,801,453 (GRCm38) T58K probably benign Het
Fstl5 T A 3: 76,708,160 (GRCm38) W843R probably damaging Het
Fyb2 A G 4: 104,945,455 (GRCm38) R185G probably benign Het
Gal3st2c G A 1: 94,009,044 (GRCm38) R237H probably damaging Het
Galnt15 G T 14: 32,049,865 (GRCm38) R289L probably damaging Het
Gdf5 T A 2: 155,942,081 (GRCm38) D317V probably damaging Het
Gm10436 A C 12: 88,177,260 (GRCm38) L261R probably benign Het
Gm7808 A G 9: 19,928,114 (GRCm38) probably benign Het
Hcn3 T C 3: 89,148,263 (GRCm38) E559G probably benign Het
Hdlbp A T 1: 93,422,237 (GRCm38) probably benign Het
Hhip T C 8: 79,975,046 (GRCm38) T620A probably benign Het
Hs3st3a1 T C 11: 64,520,442 (GRCm38) S269P probably damaging Het
Il17ra A T 6: 120,477,394 (GRCm38) probably null Het
Kif2a T C 13: 106,976,995 (GRCm38) N417S possibly damaging Het
Klhl41 T A 2: 69,674,619 (GRCm38) probably benign Het
L3mbtl4 G T 17: 68,459,805 (GRCm38) C169F probably damaging Het
Lap3 T C 5: 45,511,910 (GRCm38) F467S probably damaging Het
Lpar6 A T 14: 73,239,139 (GRCm38) Y180F probably benign Het
Lrig3 T C 10: 126,002,393 (GRCm38) probably benign Het
Ltbp2 A T 12: 84,830,658 (GRCm38) S378T probably damaging Het
Ltf T C 9: 111,022,845 (GRCm38) F117L possibly damaging Het
Med16 T C 10: 79,898,931 (GRCm38) E533G probably damaging Het
Meltf T C 16: 31,881,969 (GRCm38) probably null Het
Mphosph10 C T 7: 64,381,028 (GRCm38) E488K possibly damaging Het
Mroh1 A G 15: 76,433,385 (GRCm38) T812A probably benign Het
Mto1 T C 9: 78,461,517 (GRCm38) probably benign Het
Ndst1 A T 18: 60,712,721 (GRCm38) probably null Het
Ndst4 T A 3: 125,697,895 (GRCm38) probably null Het
Nhlh1 A T 1: 172,054,041 (GRCm38) I86N probably damaging Het
Nme9 A C 9: 99,459,774 (GRCm38) D59A probably damaging Het
Nox4 A T 7: 87,360,796 (GRCm38) R402* probably null Het
Npr1 T C 3: 90,462,188 (GRCm38) D410G probably damaging Het
Nrip1 T A 16: 76,292,039 (GRCm38) T877S probably benign Het
Nsd2 A G 5: 33,846,169 (GRCm38) N221S probably benign Het
Olfr1230 T C 2: 89,296,670 (GRCm38) N200S probably damaging Het
Olfr1463 T A 19: 13,234,913 (GRCm38) I221K possibly damaging Het
Olfr23 C A 11: 73,940,660 (GRCm38) P138Q possibly damaging Het
Olfr250 A T 9: 38,368,064 (GRCm38) I173L probably benign Het
Olfr561 A T 7: 102,775,331 (GRCm38) H269L probably benign Het
Olfr61 A T 7: 140,638,592 (GRCm38) D297V probably damaging Het
Olfr616 A T 7: 103,564,607 (GRCm38) L224* probably null Het
Ophn1 A T X: 98,726,059 (GRCm38) Y181* probably null Het
Parp1 A G 1: 180,597,339 (GRCm38) K819R probably damaging Het
Parp9 T C 16: 35,972,221 (GRCm38) S829P probably benign Het
Pde6c T A 19: 38,161,940 (GRCm38) F511Y probably damaging Het
Per3 G T 4: 151,041,426 (GRCm38) H145Q probably damaging Het
Pglyrp1 C T 7: 18,890,226 (GRCm38) R145W probably damaging Het
Piezo1 T C 8: 122,482,645 (GRCm38) probably benign Het
Plb1 T C 5: 32,286,847 (GRCm38) I312T probably benign Het
Plin3 T A 17: 56,279,824 (GRCm38) T408S possibly damaging Het
Polr2a A T 11: 69,743,946 (GRCm38) I636N probably damaging Het
Prex2 G T 1: 11,162,366 (GRCm38) E886* probably null Het
Proca1 A T 11: 78,205,021 (GRCm38) I73F probably damaging Het
Prpmp5 A T 6: 132,314,698 (GRCm38) L11Q unknown Het
Ptpn6 A G 6: 124,728,933 (GRCm38) S83P probably benign Het
Rtp1 G T 16: 23,429,299 (GRCm38) V41L probably benign Het
Scn4a A G 11: 106,327,533 (GRCm38) I1035T probably damaging Het
Sell A T 1: 164,065,338 (GRCm38) Y41F probably damaging Het
Serping1 C T 2: 84,771,449 (GRCm38) V226M probably damaging Het
Sf3b1 A T 1: 54,998,188 (GRCm38) D856E possibly damaging Het
Sfmbt1 T A 14: 30,802,567 (GRCm38) Y503N probably damaging Het
Slc16a1 T A 3: 104,653,564 (GRCm38) V395D probably damaging Het
Slc22a7 A T 17: 46,438,231 (GRCm38) D53E probably benign Het
Slc35b3 A G 13: 38,960,611 (GRCm38) probably null Het
Slc6a1 T C 6: 114,311,854 (GRCm38) M274T possibly damaging Het
Slco1a5 A G 6: 142,242,063 (GRCm38) S517P probably benign Het
Smo A G 6: 29,736,056 (GRCm38) R16G unknown Het
Srebf1 A G 11: 60,203,486 (GRCm38) L601P probably damaging Het
Sspo A G 6: 48,459,350 (GRCm38) I1086M probably benign Het
Tas2r106 A T 6: 131,678,410 (GRCm38) N159K probably damaging Het
Thsd1 G A 8: 22,252,318 (GRCm38) probably benign Het
Tmeff1 T C 4: 48,658,938 (GRCm38) probably benign Het
Tmem140 G A 6: 34,872,903 (GRCm38) C118Y possibly damaging Het
Tmem168 A G 6: 13,583,071 (GRCm38) C220R probably benign Het
Tox2 A T 2: 163,276,167 (GRCm38) N129Y probably damaging Het
Trappc12 C T 12: 28,746,985 (GRCm38) E183K probably damaging Het
Unc50 A G 1: 37,438,799 (GRCm38) Y254C probably damaging Het
Unk T G 11: 116,059,081 (GRCm38) D691E probably benign Het
Uox T A 3: 146,610,379 (GRCm38) V23D probably damaging Het
Vps13d A G 4: 145,126,606 (GRCm38) C2313R probably benign Het
Zfp804b T A 5: 6,769,283 (GRCm38) H1260L probably damaging Het
Zfyve26 A G 12: 79,264,351 (GRCm38) L147P probably damaging Het
Zmynd10 A T 9: 107,550,037 (GRCm38) Q288L probably benign Het
Zzef1 T A 11: 72,848,714 (GRCm38) D662E 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
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
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'- TTGGTCAAGGCCTGCAGAAG -3'
(R):5'- GACAGATGTGCTCATAAGAAAGCTG -3'

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