Incidental Mutation 'R4829:Dennd4a'
ID 372680
Institutional Source Beutler Lab
Gene Symbol Dennd4a
Ensembl Gene ENSMUSG00000053641
Gene Name DENN/MADD domain containing 4A
Synonyms F730015K02Rik
MMRRC Submission 042445-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # R4829 (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 64889056 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 788 (V788A)
Ref Sequence ENSEMBL: ENSMUSP00000037915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038890]
AlphaFold E9Q8V6
Predicted Effect probably damaging
Transcript: ENSMUST00000038890
AA Change: V788A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: V788A

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 0.2011 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 98% (109/111)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 138,069,019 (GRCm38) V1323A probably damaging Het
1700029J07Rik T C 8: 45,967,915 (GRCm38) I159V probably damaging Het
1700061G19Rik A G 17: 56,883,500 (GRCm38) probably null Het
Abcb1a T C 5: 8,723,214 (GRCm38) L814P probably damaging Het
Acat1 C A 9: 53,591,456 (GRCm38) G191V probably damaging Het
Adamts20 A T 15: 94,326,396 (GRCm38) D1184E probably benign Het
Adssl1 T C 12: 112,634,713 (GRCm38) L283P probably damaging Het
Arid4a A G 12: 71,023,498 (GRCm38) probably null Het
Arid4b T A 13: 14,184,438 (GRCm38) D599E probably benign Het
AW146154 T C 7: 41,480,633 (GRCm38) K353R possibly damaging Het
Axdnd1 G T 1: 156,376,646 (GRCm38) R547S possibly damaging Het
BC067074 A G 13: 113,368,162 (GRCm38) I1942V probably benign Het
BC147527 G A 13: 120,308,390 (GRCm38) C82Y possibly damaging Het
Bcat1 A T 6: 145,015,475 (GRCm38) F134Y probably damaging Het
Camk2d C A 3: 126,779,997 (GRCm38) probably benign Het
Catsperg2 T G 7: 29,701,125 (GRCm38) K268T probably damaging Het
Ccar1 A C 10: 62,745,335 (GRCm38) F1103L unknown Het
Ccdc141 T A 2: 77,074,916 (GRCm38) E395D probably damaging Het
Cdc37l1 A G 19: 28,990,583 (GRCm38) T16A probably benign Het
Cdca2 T A 14: 67,693,753 (GRCm38) probably null Het
Cntn5 T G 9: 9,976,283 (GRCm38) K219Q probably damaging Het
Col23a1 C A 11: 51,557,586 (GRCm38) A202E unknown Het
Csmd1 G A 8: 16,127,296 (GRCm38) L1318F probably damaging Het
Csnk1g3 C T 18: 53,895,823 (GRCm38) A16V possibly damaging Het
Dab2 A G 15: 6,424,681 (GRCm38) D224G probably damaging Het
Ddr1 A T 17: 35,685,113 (GRCm38) C625S probably damaging Het
Dgcr2 T C 16: 17,842,753 (GRCm38) E402G possibly damaging Het
Dhcr7 T G 7: 143,837,917 (GRCm38) I81S probably damaging Het
Exd1 C T 2: 119,520,326 (GRCm38) A485T probably benign Het
Fat1 C T 8: 45,036,162 (GRCm38) T3467I probably damaging Het
Fblim1 T C 4: 141,584,709 (GRCm38) E235G probably damaging Het
Fbxo38 T A 18: 62,518,591 (GRCm38) M548L probably benign Het
Fstl5 T C 3: 76,322,182 (GRCm38) Y97H probably damaging Het
Glb1l A T 1: 75,200,350 (GRCm38) S481T probably damaging Het
Gm7102 C T 19: 61,175,926 (GRCm38) G24R unknown Het
Gp2 A T 7: 119,457,184 (GRCm38) V22E possibly damaging Het
Grin1 A G 2: 25,318,724 (GRCm38) S55P possibly damaging Het
Herc2 A G 7: 56,106,492 (GRCm38) D760G probably benign Het
Hpn A G 7: 31,098,875 (GRCm38) probably benign Het
Hsf2 T C 10: 57,496,170 (GRCm38) V73A probably damaging Het
Ighv1-42 T C 12: 114,937,168 (GRCm38) Y80C probably benign Het
Ighv1-64 T C 12: 115,507,726 (GRCm38) K57R probably benign Het
Klc1 T C 12: 111,795,603 (GRCm38) I569T probably damaging Het
Klra3 T G 6: 130,323,616 (GRCm38) K263N probably benign Het
Lrcol1 C A 5: 110,354,527 (GRCm38) H90N probably benign Het
Mamdc4 T C 2: 25,565,356 (GRCm38) E921G possibly damaging Het
Mark1 G A 1: 184,905,527 (GRCm38) R622W possibly damaging Het
Mdga1 A G 17: 29,846,369 (GRCm38) S696P possibly damaging Het
Mmp1b C T 9: 7,370,729 (GRCm38) probably null Het
Mtnr1a T C 8: 45,085,615 (GRCm38) probably benign Het
Myo5a T C 9: 75,136,407 (GRCm38) I226T probably damaging Het
Ncoa6 G T 2: 155,415,227 (GRCm38) P799T probably damaging Het
Npc1l1 C T 11: 6,214,010 (GRCm38) probably null Het
Nxph3 T C 11: 95,511,495 (GRCm38) E31G probably benign Het
Obscn T C 11: 59,054,246 (GRCm38) I4649V probably null Het
Olfr1100 G A 2: 86,978,574 (GRCm38) S74L probably damaging Het
Olfr875 G T 9: 37,772,947 (GRCm38) C96F probably damaging Het
Olfr955 A T 9: 39,470,367 (GRCm38) Y120N probably damaging Het
Olfr960 A T 9: 39,623,438 (GRCm38) H103L probably damaging Het
P3h3 G A 6: 124,841,638 (GRCm38) probably benign Het
Pcnx2 A T 8: 125,861,058 (GRCm38) probably null Het
Pirb C T 7: 3,717,603 (GRCm38) G299S probably benign Het
Pla2g4d A G 2: 120,266,743 (GRCm38) S792P probably damaging Het
Plppr4 A T 3: 117,335,591 (GRCm38) L76M possibly damaging Het
Ppp2r3a A T 9: 101,212,510 (GRCm38) S205T possibly damaging Het
Prkdc G A 16: 15,702,075 (GRCm38) D1126N possibly damaging Het
Prrt4 G A 6: 29,177,182 (GRCm38) S196L probably benign Het
Ptpn21 A C 12: 98,689,296 (GRCm38) S471A probably damaging Het
Ptprk C A 10: 28,580,484 (GRCm38) S9* probably null Het
Rassf4 A T 6: 116,645,142 (GRCm38) I163K possibly damaging Het
Rgs22 C A 15: 36,103,888 (GRCm38) R142S probably damaging Het
Rit2 C A 18: 31,212,673 (GRCm38) L73F probably damaging Het
Rrbp1 A C 2: 143,989,687 (GRCm38) S187A probably benign Het
Rspo2 A T 15: 43,093,187 (GRCm38) Y83* probably null Het
Scn5a C T 9: 119,534,707 (GRCm38) V456M probably benign Het
Scn9a T A 2: 66,551,713 (GRCm38) H290L probably benign Het
Smarca4 T C 9: 21,639,327 (GRCm38) I452T probably damaging Het
Smc2 T A 4: 52,449,612 (GRCm38) I198K probably damaging Het
Smim14 G A 5: 65,460,603 (GRCm38) probably benign Het
Spg11 A C 2: 122,108,455 (GRCm38) N339K probably benign Het
Spta1 A G 1: 174,237,927 (GRCm38) E2014G probably benign Het
Stk4 T C 2: 164,099,827 (GRCm38) probably null Het
Sypl C T 12: 32,967,646 (GRCm38) T121M probably damaging Het
Tas2r120 T A 6: 132,657,368 (GRCm38) F138I probably benign Het
Tet2 A C 3: 133,476,620 (GRCm38) C1194W possibly damaging Het
Tex29 T C 8: 11,855,668 (GRCm38) probably benign Het
Tnfrsf22 T A 7: 143,643,330 (GRCm38) T91S possibly damaging Het
Tnik A T 3: 28,539,541 (GRCm38) probably benign Het
Tnr A T 1: 159,858,404 (GRCm38) I402F probably benign Het
Unc93b1 A T 19: 3,944,293 (GRCm38) S475C probably damaging Het
Utrn T A 10: 12,663,461 (GRCm38) E1937D probably benign Het
Vmn1r227 A T 17: 20,735,665 (GRCm38) noncoding transcript Het
Vmn2r101 G A 17: 19,611,967 (GRCm38) V742I probably benign Het
Vmn2r81 T C 10: 79,247,801 (GRCm38) L3P possibly damaging Het
Zfp882 T G 8: 71,914,389 (GRCm38) H353Q 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
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
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'- GTGACTTTCTGTGTTCACCATTCAG -3'
(R):5'- AGTACAGGCTGGTCGTACTG -3'

Sequencing Primer
(F):5'- GCTTAATAAAGATGCTACCTTGGAC -3'
(R):5'- TACTGTCCACAGAGCTGCATGAG -3'
Posted On 2016-03-01