Incidental Mutation 'R7454:Dennd4a'
ID 578008
Institutional Source Beutler Lab
Gene Symbol Dennd4a
Ensembl Gene ENSMUSG00000053641
Gene Name DENN/MADD domain containing 4A
Synonyms F730015K02Rik
MMRRC Submission 045528-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R7454 (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 C at 64852570 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 319 (H319P)
Ref Sequence ENSEMBL: ENSMUSP00000037915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038890]
AlphaFold E9Q8V6
Predicted Effect probably damaging
Transcript: ENSMUST00000038890
AA Change: H319P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: H319P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (90/90)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510002D24Rik A G 16: 18,836,851 (GRCm38) E57G possibly damaging Het
4932414N04Rik C A 2: 68,688,304 (GRCm38) T159K unknown Het
Adamts10 T A 17: 33,545,005 (GRCm38) F616L possibly damaging Het
Adtrp G A 13: 41,828,315 (GRCm38) S26L unknown Het
Alpk3 A C 7: 81,078,562 (GRCm38) E480A probably benign Het
Anks6 T C 4: 47,038,919 (GRCm38) T529A unknown Het
Arl4d A G 11: 101,666,660 (GRCm38) H4R probably benign Het
Ash1l A G 3: 88,983,865 (GRCm38) H1017R probably benign Het
Bbs12 T C 3: 37,320,953 (GRCm38) S517P possibly damaging Het
Bcl11b C A 12: 107,916,208 (GRCm38) R616L possibly damaging Het
Bean1 G A 8: 104,211,026 (GRCm38) G79D probably damaging Het
Bicra C G 7: 15,972,134 (GRCm38) G1461R probably benign Het
Bptf T C 11: 107,044,640 (GRCm38) T124A probably benign Het
Btnl4 A T 17: 34,472,374 (GRCm38) V312E probably benign Het
Ccdc7a A G 8: 128,944,516 (GRCm38) M503T unknown Het
Celf5 T C 10: 81,482,523 (GRCm38) E28G probably damaging Het
Cilp2 G A 8: 69,883,390 (GRCm38) L350F probably damaging Het
Clec4a2 T C 6: 123,142,452 (GRCm38) I245T probably damaging Het
Ctnnal1 A T 4: 56,844,544 (GRCm38) V140D probably damaging Het
Dlgap3 G T 4: 127,235,059 (GRCm38) L857F probably null Het
Dnah6 T A 6: 73,212,492 (GRCm38) T58S probably damaging Het
Dnah7a T A 1: 53,518,764 (GRCm38) M2164L probably benign Het
Dspp T A 5: 104,175,610 (GRCm38) H206Q probably benign Het
Dzip1l G A 9: 99,659,674 (GRCm38) V443M possibly damaging Het
Erc2 A G 14: 28,302,991 (GRCm38) H939R possibly damaging Het
Fam149a G T 8: 45,348,546 (GRCm38) H513N probably benign Het
Fam171a2 T C 11: 102,439,717 (GRCm38) T280A possibly damaging Het
Fam208b A G 13: 3,585,332 (GRCm38) S492P probably benign Het
Fkbp5 A C 17: 28,416,025 (GRCm38) V170G probably damaging Het
Fnbp4 ACCACCTCCACCTCCACCTCC ACCACCTCCACCTCCACCTCCACCTCC 2: 90,777,815 (GRCm38) probably benign Het
Fzd2 T C 11: 102,605,129 (GRCm38) F133S probably damaging Het
Galm A G 17: 80,138,121 (GRCm38) N100S possibly damaging Het
Gbp2b T A 3: 142,598,159 (GRCm38) I5N possibly damaging Het
Gga2 T C 7: 122,002,146 (GRCm38) R245G probably benign Het
Gm10053 A G 19: 24,875,900 (GRCm38) T50A probably benign Het
Gm1110 T C 9: 26,920,649 (GRCm38) T69A probably benign Het
Gm15922 T G 7: 3,735,510 (GRCm38) E622D probably benign Het
Heatr5a T C 12: 51,961,543 (GRCm38) S6G probably benign Het
Hmcn1 A G 1: 150,563,604 (GRCm38) S5610P probably damaging Het
Hmgb4 A G 4: 128,260,406 (GRCm38) V123A probably damaging Het
Itgal C A 7: 127,327,764 (GRCm38) Q943K probably benign Het
Jakmip1 C A 5: 37,175,154 (GRCm38) D1059E probably damaging Het
Jazf1 T C 6: 52,893,944 (GRCm38) probably null Het
Kat6a A G 8: 22,935,772 (GRCm38) E1111G possibly damaging Het
Kdm4b C A 17: 56,389,639 (GRCm38) P452T probably benign Het
Krit1 T C 5: 3,812,474 (GRCm38) Y210H probably damaging Het
Krtap6-2 A T 16: 89,419,912 (GRCm38) Y56N unknown Het
Lig1 A T 7: 13,288,721 (GRCm38) D158V probably damaging Het
Lmo1 A T 7: 109,140,666 (GRCm38) L94Q probably benign Het
Lrrc30 A T 17: 67,632,243 (GRCm38) L114H probably damaging Het
Ltn1 T C 16: 87,397,812 (GRCm38) I1400V probably benign Het
Mark3 T C 12: 111,604,527 (GRCm38) I87T probably damaging Het
Mfrp G T 9: 44,105,183 (GRCm38) V392F possibly damaging Het
Mrgprg A G 7: 143,765,135 (GRCm38) L80P probably damaging Het
Ndufaf3 A T 9: 108,566,926 (GRCm38) M1K probably null Het
Nme7 T A 1: 164,380,648 (GRCm38) L295* probably null Het
Noct G T 3: 51,249,730 (GRCm38) C163F probably damaging Het
Olfr1270 T A 2: 90,149,419 (GRCm38) I196F possibly damaging Het
Olfr229 A G 9: 39,909,904 (GRCm38) I34V probably benign Het
Olfr541 A T 7: 140,704,634 (GRCm38) I128F probably damaging Het
Olfr747 T A 14: 50,680,824 (GRCm38) Q270L possibly damaging Het
Olfr772 T A 10: 129,174,455 (GRCm38) T189S probably damaging Het
Olfr992 T A 2: 85,399,611 (GRCm38) K307N probably damaging Het
Patz1 C T 11: 3,298,297 (GRCm38) probably benign Het
Per3 A G 4: 151,012,728 (GRCm38) L780P probably benign Het
Pla2g4a T C 1: 149,872,690 (GRCm38) M256V possibly damaging Het
Pnliprp1 A G 19: 58,741,100 (GRCm38) K395R probably benign Het
Poc5 G T 13: 96,400,832 (GRCm38) G242V possibly damaging Het
Ppfia4 A G 1: 134,324,135 (GRCm38) S434P possibly damaging Het
Prss42 A G 9: 110,798,829 (GRCm38) N110S probably benign Het
Ralgapb T A 2: 158,432,902 (GRCm38) I241N possibly damaging Het
Rbak A C 5: 143,173,773 (GRCm38) Y508* probably null Het
S1pr2 G T 9: 20,967,549 (GRCm38) R328S possibly damaging Het
Sap130 T C 18: 31,650,512 (GRCm38) M214T probably benign Het
Slc46a1 T A 11: 78,466,511 (GRCm38) V130E probably damaging Het
Smc4 A T 3: 69,018,124 (GRCm38) H343L probably benign Het
Tarbp1 C A 8: 126,457,677 (GRCm38) R500L probably benign Het
Tgfbr3 A T 5: 107,215,028 (GRCm38) H39Q probably damaging Het
Tpp2 T C 1: 43,954,659 (GRCm38) S235P probably benign Het
Trbc2 G T 6: 41,546,829 (GRCm38) R33M Het
Trim3 C T 7: 105,619,558 (GRCm38) R63Q probably damaging Het
Ttc28 T C 5: 111,285,484 (GRCm38) V2128A probably benign Het
Ttn T A 2: 76,944,139 (GRCm38) Q2187L unknown Het
Ttn C T 2: 76,725,818 (GRCm38) R30281H probably damaging Het
Ttyh3 T C 5: 140,629,425 (GRCm38) S403G possibly damaging Het
Vmn2r112 A T 17: 22,603,307 (GRCm38) D322V probably benign Het
Wdr38 C T 2: 38,998,340 (GRCm38) probably benign Het
Xrn1 T A 9: 96,048,358 (GRCm38) S1543R probably benign Het
Zbtb8b G A 4: 129,432,769 (GRCm38) T201I possibly 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
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
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'- GCTAAATACTCAGCTGATCATCTG -3'
(R):5'- CATCTTGGATTGTCAATGCTTTCTG -3'

Sequencing Primer
(F):5'- ATACTCAGCTGATCATCTGTTTTG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
Posted On 2019-10-07