Incidental Mutation 'R7662:Dennd4a'
ID 591646
Institutional Source Beutler Lab
Gene Symbol Dennd4a
Ensembl Gene ENSMUSG00000053641
Gene Name DENN/MADD domain containing 4A
Synonyms F730015K02Rik
MMRRC Submission 045737-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R7662 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 64811340-64919667 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64852431 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 273 (I273V)
Ref Sequence ENSEMBL: ENSMUSP00000037915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038890]
AlphaFold E9Q8V6
Predicted Effect probably damaging
Transcript: ENSMUST00000038890
AA Change: I273V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: I273V

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
Meta Mutation Damage Score 0.1517 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (82/82)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930504O13Rik T C 11: 58,447,443 (GRCm38) N41S probably benign Het
4930563M21Rik G A 9: 55,978,715 (GRCm38) S48L probably benign Het
5830411N06Rik T C 7: 140,294,812 (GRCm38) V401A possibly damaging Het
Abi3bp A G 16: 56,617,323 (GRCm38) probably null Het
Adssl1 T A 12: 112,639,738 (GRCm38) V456E probably damaging Het
Aimp1 A T 3: 132,674,066 (GRCm38) V105E probably benign Het
Ankrd6 G A 4: 32,818,694 (GRCm38) R270C probably damaging Het
Arid5b C T 10: 68,098,587 (GRCm38) G495E probably benign Het
Armh1 C A 4: 117,213,741 (GRCm38) A396S probably benign Het
Asb15 T A 6: 24,566,090 (GRCm38) D347E probably benign Het
Axin2 T A 11: 108,942,456 (GRCm38) L489Q possibly damaging Het
Baiap2l1 G A 5: 144,357,890 (GRCm38) probably benign Het
BC003331 T C 1: 150,382,294 (GRCm38) S197G probably benign Het
Cdc6 T C 11: 98,917,010 (GRCm38) L443P probably benign Het
Cdc6 T A 11: 98,910,612 (GRCm38) N194K possibly damaging Het
Celf2 C A 2: 6,553,917 (GRCm38) G393C probably damaging Het
Cep290 T A 10: 100,537,803 (GRCm38) M1315K probably benign Het
Cntn5 A T 9: 9,661,385 (GRCm38) M887K probably benign Het
Col17a1 T C 19: 47,681,501 (GRCm38) I71V probably benign Het
Crot T C 5: 8,969,072 (GRCm38) M494V probably damaging Het
Ctnna2 A T 6: 77,636,869 (GRCm38) V246D probably damaging Het
Cyb5r4 A G 9: 87,027,038 (GRCm38) E56G possibly damaging Het
Dennd2a A G 6: 39,493,103 (GRCm38) Y552H probably benign Het
Dkk2 A G 3: 132,177,868 (GRCm38) probably null Het
Dnaja2 A C 8: 85,539,276 (GRCm38) D393E probably benign Het
Dscc1 T A 15: 55,076,165 (GRCm38) I461F possibly damaging Het
Dspp A T 5: 104,177,870 (GRCm38) S700C unknown Het
Ect2 T A 3: 27,131,798 (GRCm38) H512L probably damaging Het
Eif1b A G 9: 120,494,211 (GRCm38) T46A possibly damaging Het
Fam114a2 A T 11: 57,507,565 (GRCm38) D182E probably damaging Het
Fez1 C A 9: 36,870,500 (GRCm38) P347H probably damaging Het
Fgd5 G A 6: 92,049,931 (GRCm38) probably null Het
Flad1 T A 3: 89,403,451 (GRCm38) I430F probably damaging Het
Gal3st2b T C 1: 93,940,892 (GRCm38) Y282H probably damaging Het
Gm29106 T A 1: 118,199,407 (GRCm38) N276K possibly damaging Het
Gm36176 C A 10: 77,846,852 (GRCm38) S16Y unknown Het
Gm5624 T C 14: 44,561,933 (GRCm38) R56G possibly damaging Het
Gpatch11 A C 17: 78,839,055 (GRCm38) Q43P probably benign Het
Gtpbp2 A G 17: 46,166,435 (GRCm38) T409A probably benign Het
Hmcn2 T C 2: 31,382,345 (GRCm38) I1279T probably benign Het
Ick G C 9: 78,167,620 (GRCm38) V586L probably benign Het
Itih3 T A 14: 30,917,330 (GRCm38) N429Y probably benign Het
Lrp5 A G 19: 3,686,353 (GRCm38) probably null Het
Lrrc34 T A 3: 30,643,303 (GRCm38) Y93F probably benign Het
Malrd1 T A 2: 15,871,454 (GRCm38) V1404D unknown Het
Med1 T C 11: 98,155,392 (GRCm38) N1526S unknown Het
Myt1l A G 12: 29,826,869 (GRCm38) D173G unknown Het
Nckap1l A T 15: 103,462,585 (GRCm38) H197L probably damaging Het
Nipa1 T C 7: 55,979,624 (GRCm38) E247G probably damaging Het
Nmrk1 A T 19: 18,642,178 (GRCm38) R132* probably null Het
Nrap G T 19: 56,320,283 (GRCm38) A1700E probably benign Het
Olfr1340 T A 4: 118,726,307 (GRCm38) F20Y probably damaging Het
Olfr951 A T 9: 39,394,093 (GRCm38) M98L probably benign Het
Padi6 T C 4: 140,728,995 (GRCm38) T563A probably benign Het
Pcdhb19 G A 18: 37,498,735 (GRCm38) E528K probably damaging Het
Pcnt T C 10: 76,387,522 (GRCm38) D1942G probably benign Het
Pcnx2 C T 8: 125,818,771 (GRCm38) W1167* probably null Het
Pkp3 C T 7: 141,078,379 (GRCm38) T19I probably benign Het
Plekhg5 T C 4: 152,104,298 (GRCm38) L199P probably damaging Het
Rasal1 A G 5: 120,662,184 (GRCm38) T171A probably benign Het
Rgsl1 T C 1: 153,825,479 (GRCm38) I410V probably benign Het
Sftpa1 C A 14: 41,134,212 (GRCm38) N171K probably damaging Het
Slc5a9 A T 4: 111,877,540 (GRCm38) *686R probably null Het
Smap1 A T 1: 23,877,774 (GRCm38) N91K probably damaging Het
Tenm3 A G 8: 48,335,727 (GRCm38) S695P probably benign Het
Thoc3 A T 13: 54,463,804 (GRCm38) H223Q probably damaging Het
Tmco4 T C 4: 139,010,561 (GRCm38) F156L probably benign Het
Tmem30a C T 9: 79,775,231 (GRCm38) V188I probably benign Het
Trim27 T A 13: 21,192,158 (GRCm38) C359S probably benign Het
Trrap A G 5: 144,832,511 (GRCm38) T2609A probably benign Het
Ttn A G 2: 76,862,400 (GRCm38) V446A Het
Vat1l T A 8: 114,282,344 (GRCm38) Y273N probably damaging Het
Vmn1r129 T A 7: 21,360,627 (GRCm38) H222L possibly damaging Het
Vmn2r19 A G 6: 123,331,562 (GRCm38) T533A probably benign Het
Vmn2r77 T A 7: 86,811,284 (GRCm38) L606* probably null Het
Vmn2r93 G T 17: 18,305,369 (GRCm38) V430L probably benign Het
Vps50 T A 6: 3,562,304 (GRCm38) N466K probably damaging Het
Zfp507 A T 7: 35,787,804 (GRCm38) Y746* probably null Het
Zfp521 A C 18: 13,844,116 (GRCm38) L1080R probably damaging Het
Zfp74 A G 7: 29,953,853 (GRCm38) probably null Het
Zfp831 G A 2: 174,646,141 (GRCm38) A870T possibly damaging Het
Zfp936 A T 7: 43,189,912 (GRCm38) K268* probably null Het
Zhx2 C A 15: 57,822,176 (GRCm38) R314S probably damaging Het
Zkscan16 A T 4: 58,957,679 (GRCm38) K654* 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
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
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'- TAGCAGATTTATCAAGAAAGCAGTC -3'
(R):5'- CAATTGGAAGGGCATGAGGTCC -3'

Sequencing Primer
(F):5'- TGACAAGTTTGAGGCCAGCC -3'
(R):5'- CATGAGGTCCAGAGATGGAATAAC -3'
Posted On 2019-11-12