Incidental Mutation 'R1448:Dennd4a'
ID 159055
Institutional Source Beutler Lab
Gene Symbol Dennd4a
Ensembl Gene ENSMUSG00000053641
Gene Name DENN/MADD domain containing 4A
Synonyms F730015K02Rik
MMRRC Submission 039503-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R1448 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 64811340-64919667 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64906045 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1429 (S1429T)
Ref Sequence ENSEMBL: ENSMUSP00000037915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038890]
AlphaFold E9Q8V6
Predicted Effect possibly damaging
Transcript: ENSMUST00000038890
AA Change: S1429T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: S1429T

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: ENSMUST00000214029
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.0%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417H12Rik T A 7: 107,624,745 (GRCm38) probably benign Het
A1cf A T 19: 31,908,796 (GRCm38) N35I possibly damaging Het
Abca2 T C 2: 25,440,530 (GRCm38) I1106T possibly damaging Het
Abca4 G A 3: 122,162,928 (GRCm38) probably null Het
Adgrv1 T C 13: 81,433,513 (GRCm38) D4804G probably benign Het
Adk T A 14: 21,052,640 (GRCm38) M1K probably null Het
Aff3 T C 1: 38,191,283 (GRCm38) N1006D probably damaging Het
Akap12 A G 10: 4,355,475 (GRCm38) T762A probably benign Het
Atp12a T A 14: 56,385,839 (GRCm38) M843K probably damaging Het
Bbx T A 16: 50,266,270 (GRCm38) K169* probably null Het
Bicra A T 7: 15,988,359 (GRCm38) V411E possibly damaging Het
Camk1d A T 2: 5,362,025 (GRCm38) Y126* probably null Het
Cel T C 2: 28,556,326 (GRCm38) Y511C probably damaging Het
Celf4 G T 18: 25,503,083 (GRCm38) probably null Het
Clasp1 A G 1: 118,508,916 (GRCm38) N310S probably benign Het
Col6a3 T C 1: 90,781,855 (GRCm38) K1873R unknown Het
Cstf1 A G 2: 172,375,875 (GRCm38) D136G probably damaging Het
Cwc22 T A 2: 77,911,555 (GRCm38) E470D probably damaging Het
Cxcr2 A T 1: 74,158,368 (GRCm38) D7V probably benign Het
Cytip A G 2: 58,145,180 (GRCm38) I168T probably damaging Het
D5Ertd579e A G 5: 36,602,739 (GRCm38) L1359P probably benign Het
Ddx25 A C 9: 35,557,738 (GRCm38) V26G probably benign Het
Dmd A G X: 84,848,700 (GRCm38) D2990G probably damaging Het
Dopey1 C A 9: 86,542,732 (GRCm38) probably null Het
Eps8 T C 6: 137,522,854 (GRCm38) Q209R possibly damaging Het
Fabp6 T A 11: 43,596,165 (GRCm38) I112F probably benign Het
Fam159b T C 13: 104,845,962 (GRCm38) I151V probably benign Het
Fam214a C G 9: 75,010,174 (GRCm38) S685* probably null Het
Fbxw10 T C 11: 62,847,592 (GRCm38) V104A possibly damaging Het
Gp1ba C T 11: 70,641,427 (GRCm38) P673L probably damaging Het
Grin3a T C 4: 49,702,804 (GRCm38) Y894C probably damaging Het
Hydin C T 8: 110,446,585 (GRCm38) H967Y probably benign Het
Ip6k3 T C 17: 27,145,268 (GRCm38) K269E possibly damaging Het
Jup T C 11: 100,383,200 (GRCm38) K172E probably damaging Het
Katnal1 T C 5: 148,904,676 (GRCm38) D126G probably benign Het
Knl1 A T 2: 119,068,307 (GRCm38) K163M probably damaging Het
Krt17 C T 11: 100,257,539 (GRCm38) E359K possibly damaging Het
Lct T A 1: 128,307,822 (GRCm38) I483F probably damaging Het
Loxl2 G A 14: 69,693,040 (GRCm38) G751D probably damaging Het
Ltbp4 G A 7: 27,306,577 (GRCm38) R1559C possibly damaging Het
Man2c1 T A 9: 57,135,219 (GRCm38) D183E probably benign Het
Med17 T C 9: 15,275,843 (GRCm38) probably null Het
Mrgpra9 A C 7: 47,235,813 (GRCm38) S34R probably benign Het
Mrpl44 T A 1: 79,777,960 (GRCm38) N94K probably damaging Het
Nat8f1 A G 6: 85,910,942 (GRCm38) V12A probably benign Het
Nr2e3 C A 9: 59,943,514 (GRCm38) G354V probably damaging Het
Nrbp1 T A 5: 31,245,813 (GRCm38) I210N probably damaging Het
Nup155 T C 15: 8,112,406 (GRCm38) V94A probably benign Het
Olfr1497 A T 19: 13,794,776 (GRCm38) Y278* probably null Het
Olfr294 A T 7: 86,616,361 (GRCm38) C95S probably damaging Het
Olfr502 T C 7: 108,523,318 (GRCm38) I211V probably benign Het
Olfr649 C T 7: 104,189,875 (GRCm38) V111I possibly damaging Het
Pcdhb10 A T 18: 37,412,503 (GRCm38) I211F possibly damaging Het
Phip A C 9: 82,915,423 (GRCm38) I509S possibly damaging Het
Pkhd1 C T 1: 20,585,157 (GRCm38) probably null Het
Psme4 T G 11: 30,852,744 (GRCm38) L1487R probably damaging Het
Ptgdr2 A G 19: 10,940,493 (GRCm38) S125G probably damaging Het
Ptpro A G 6: 137,441,116 (GRCm38) K126E probably damaging Het
Rdh16f2 T A 10: 127,876,925 (GRCm38) V264E probably benign Het
Ric8b C T 10: 84,947,671 (GRCm38) A131V possibly damaging Het
Rock1 A T 18: 10,070,233 (GRCm38) I1280N probably damaging Het
Rprd2 A G 3: 95,818,576 (GRCm38) V59A possibly damaging Het
Ruvbl1 T A 6: 88,467,569 (GRCm38) C49S probably benign Het
Scn2a A G 2: 65,683,845 (GRCm38) N291S probably benign Het
Serbp1 T A 6: 67,277,920 (GRCm38) H325Q probably damaging Het
Shf G A 2: 122,368,682 (GRCm38) P51S probably damaging Het
Slitrk3 G A 3: 73,050,341 (GRCm38) T366I probably damaging Het
Spryd3 A T 15: 102,118,392 (GRCm38) H307Q possibly damaging Het
Spx A T 6: 142,418,513 (GRCm38) D100V probably benign Het
Surf4 A G 2: 26,924,464 (GRCm38) F142L probably damaging Het
Syne2 T C 12: 76,052,178 (GRCm38) M5278T possibly damaging Het
Syne2 T A 12: 76,020,325 (GRCm38) probably null Het
Thap12 T C 7: 98,716,023 (GRCm38) V466A probably benign Het
Thap3 T C 4: 151,983,216 (GRCm38) K135R possibly damaging Het
Tmem131 G T 1: 36,827,358 (GRCm38) D448E probably benign Het
Tmem63b C G 17: 45,678,978 (GRCm38) R88P possibly damaging Het
Trim43a G T 9: 88,582,093 (GRCm38) C19F probably damaging Het
Trp63 C T 16: 25,889,120 (GRCm38) P526L possibly damaging Het
Ubqln3 T C 7: 104,142,790 (GRCm38) D31G probably damaging Het
Utp14b C A 1: 78,665,445 (GRCm38) N353K probably damaging Het
Vmn1r40 A G 6: 89,714,576 (GRCm38) K125R probably damaging Het
Vmn2r1 A G 3: 64,101,313 (GRCm38) Y471C probably damaging Het
Vmn2r13 A G 5: 109,174,135 (GRCm38) I232T probably damaging Het
Zfp263 A C 16: 3,746,459 (GRCm38) E204D probably benign Het
Zfp865 A T 7: 5,029,279 (GRCm38) K88* 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
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
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'- TGTGCAGACATGCCTCAGCTTC -3'
(R):5'- AACAGGTCTCAGCAACCTTGGATG -3'

Sequencing Primer
(F):5'- ggaatgggaagcagtggtag -3'
(R):5'- CTCAGCAACCTTGGATGTAATGG -3'
Posted On 2014-03-14