Incidental Mutation 'IGL03349:Dennd4a'
ID419603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dennd4a
Ensembl Gene ENSMUSG00000053641
Gene NameDENN/MADD domain containing 4A
SynonymsF730015K02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.243) question?
Stock #IGL03349
Quality Score
Status
Chromosome9
Chromosomal Location64811340-64919667 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64888974 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 761 (W761R)
Ref Sequence ENSEMBL: ENSMUSP00000037915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038890]
Predicted Effect probably damaging
Transcript: ENSMUST00000038890
AA Change: W761R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: W761R

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
Coding Region Coverage
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,481,336 Y3648H probably benign Het
Akr1c20 T A 13: 4,508,250 R172* probably null Het
Apba1 A T 19: 23,917,575 E458D probably benign Het
Atg2a T A 19: 6,258,024 V1590D possibly damaging Het
Atp13a4 A G 16: 29,456,671 S332P probably benign Het
Atp8b2 A T 3: 89,957,817 F163I probably damaging Het
Azin2 A T 4: 128,946,114 Y228* probably null Het
Cd109 C T 9: 78,636,485 H104Y probably benign Het
Ces2a G T 8: 104,734,080 L3F probably damaging Het
Crebbp A G 16: 4,117,358 V889A possibly damaging Het
Crim1 A T 17: 78,355,150 K801* probably null Het
Cxcr1 T C 1: 74,192,528 T112A possibly damaging Het
Cyp1a2 A G 9: 57,679,875 S378P possibly damaging Het
Cyp2c67 T C 19: 39,643,684 Y80C probably damaging Het
Dgki C T 6: 37,097,627 probably null Het
Dnase1l3 T C 14: 7,984,146 T89A probably benign Het
Dock4 C A 12: 40,733,310 Q748K probably benign Het
Elmo3 A G 8: 105,306,388 E68G possibly damaging Het
Fer1l4 C A 2: 156,044,734 E692* probably null Het
Fkbp9 T A 6: 56,849,718 M101K probably damaging Het
Gm4763 T A 7: 24,722,836 S163C probably damaging Het
Grin1 C A 2: 25,310,436 V225L probably benign Het
Gucy2d T C 7: 98,449,841 V288A possibly damaging Het
Heatr5b C A 17: 78,755,320 K1933N probably benign Het
Hsdl1 A T 8: 119,565,697 S260T probably benign Het
Hspg2 T C 4: 137,560,522 probably benign Het
Ift172 A T 5: 31,284,130 V220E probably benign Het
Igkv12-47 C T 6: 69,750,866 noncoding transcript Het
Ism1 C T 2: 139,731,975 R82* probably null Het
Lrch3 A G 16: 32,955,324 T187A probably damaging Het
Ltbr T A 6: 125,312,366 D160V probably damaging Het
Mark3 A T 12: 111,628,250 K353I probably benign Het
Mrm3 A T 11: 76,249,946 H260L probably damaging Het
Nckap1 T C 2: 80,525,560 Q627R probably benign Het
Neb T A 2: 52,278,952 Y1857F possibly damaging Het
Ntsr1 A G 2: 180,500,502 T29A probably benign Het
Ofcc1 C T 13: 40,072,752 G768D probably benign Het
Olfr181 T C 16: 58,925,960 M204V probably benign Het
Pde8b T C 13: 95,043,043 probably benign Het
Pld4 A T 12: 112,767,879 Q393L probably benign Het
Prss23 T C 7: 89,509,857 I335V probably benign Het
Prune2 A G 19: 17,123,346 I2071M probably damaging Het
Ptprz1 T A 6: 23,000,332 V807E probably damaging Het
Rnf20 G A 4: 49,655,936 A961T probably damaging Het
Slc25a24 A G 3: 109,149,549 Q126R possibly damaging Het
Slc35e1 A T 8: 72,483,852 Y382N probably damaging Het
Snrpn C T 7: 59,985,865 G129D probably damaging Het
Spag9 A T 11: 94,093,509 N386I possibly damaging Het
Ssna1 T C 2: 25,271,530 N102D possibly damaging Het
Tcrg-C2 T A 13: 19,305,176 T129S probably benign Het
Tex21 A T 12: 76,221,591 I139N probably benign Het
Trim21 T C 7: 102,563,277 T161A probably benign Het
Vmn2r82 T A 10: 79,377,869 H96Q probably benign Het
Other mutations in Dennd4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Dennd4a APN 9 64911762 missense probably damaging 1.00
IGL01610:Dennd4a APN 9 64906884 missense probably damaging 0.99
IGL01788:Dennd4a APN 9 64842621 missense probably benign 0.00
IGL01827:Dennd4a APN 9 64842561 nonsense probably null
IGL01828:Dennd4a APN 9 64842561 nonsense probably null
IGL01829:Dennd4a APN 9 64842561 nonsense probably null
IGL01979:Dennd4a APN 9 64894409 missense probably benign 0.00
IGL02100:Dennd4a APN 9 64909706 splice site probably benign
IGL02339:Dennd4a APN 9 64842561 nonsense probably null
IGL02341:Dennd4a APN 9 64842561 nonsense probably null
IGL02584:Dennd4a APN 9 64851298 missense probably damaging 1.00
IGL02607:Dennd4a APN 9 64862327 missense probably damaging 0.99
IGL02654:Dennd4a APN 9 64910191 splice site probably benign
IGL02701:Dennd4a APN 9 64897353 missense possibly damaging 0.50
IGL03051:Dennd4a APN 9 64862414 missense probably damaging 1.00
IGL03257:Dennd4a APN 9 64871874 missense possibly damaging 0.93
IGL03346:Dennd4a APN 9 64888526 missense possibly damaging 0.47
IGL03398:Dennd4a APN 9 64871882 missense probably benign 0.32
R0010:Dennd4a UTSW 9 64896715 missense probably benign 0.00
R0010:Dennd4a UTSW 9 64896715 missense probably benign 0.00
R0129:Dennd4a UTSW 9 64893294 missense probably damaging 1.00
R0220:Dennd4a UTSW 9 64852445 missense probably damaging 1.00
R0396:Dennd4a UTSW 9 64862391 missense probably damaging 1.00
R0881:Dennd4a UTSW 9 64851383 critical splice donor site probably null
R1225:Dennd4a UTSW 9 64911675 missense probably benign 0.03
R1311:Dennd4a UTSW 9 64910004 missense probably benign 0.34
R1448:Dennd4a UTSW 9 64906045 missense possibly damaging 0.95
R1450:Dennd4a UTSW 9 64911665 missense probably benign 0.03
R1630:Dennd4a UTSW 9 64871882 missense probably benign 0.32
R1709:Dennd4a UTSW 9 64889605 missense possibly damaging 0.92
R1824:Dennd4a UTSW 9 64859358 critical splice donor site probably null
R1851:Dennd4a UTSW 9 64862030 missense probably damaging 1.00
R1870:Dennd4a UTSW 9 64897234 missense probably benign 0.00
R1900:Dennd4a UTSW 9 64897336 missense probably damaging 0.99
R1911:Dennd4a UTSW 9 64889086 missense probably damaging 1.00
R1938:Dennd4a UTSW 9 64842490 missense probably damaging 1.00
R1954:Dennd4a UTSW 9 64852467 missense probably benign 0.02
R1955:Dennd4a UTSW 9 64852467 missense probably benign 0.02
R2049:Dennd4a UTSW 9 64889605 missense possibly damaging 0.92
R2129:Dennd4a UTSW 9 64905974 intron probably null
R2138:Dennd4a UTSW 9 64889337 missense probably damaging 1.00
R2929:Dennd4a UTSW 9 64852417 missense possibly damaging 0.85
R3083:Dennd4a UTSW 9 64906081 missense probably benign 0.03
R3108:Dennd4a UTSW 9 64912387 missense probably benign 0.23
R3176:Dennd4a UTSW 9 64888993 missense probably damaging 1.00
R3177:Dennd4a UTSW 9 64888993 missense probably damaging 1.00
R3276:Dennd4a UTSW 9 64888993 missense probably damaging 1.00
R3277:Dennd4a UTSW 9 64888993 missense probably damaging 1.00
R3890:Dennd4a UTSW 9 64872028 missense probably damaging 1.00
R3953:Dennd4a UTSW 9 64852575 missense probably damaging 1.00
R3963:Dennd4a UTSW 9 64862331 missense probably damaging 1.00
R4059:Dennd4a UTSW 9 64911892 missense possibly damaging 0.92
R4499:Dennd4a UTSW 9 64910123 missense possibly damaging 0.78
R4500:Dennd4a UTSW 9 64910123 missense possibly damaging 0.78
R4501:Dennd4a UTSW 9 64910123 missense possibly damaging 0.78
R4671:Dennd4a UTSW 9 64894407 missense probably benign
R4701:Dennd4a UTSW 9 64897357 missense possibly damaging 0.91
R4821:Dennd4a UTSW 9 64897249 missense possibly damaging 0.92
R4829:Dennd4a UTSW 9 64889056 missense probably damaging 1.00
R4876:Dennd4a UTSW 9 64896590 missense probably benign
R4881:Dennd4a UTSW 9 64838844 missense possibly damaging 0.77
R4962:Dennd4a UTSW 9 64906003 missense probably benign 0.00
R5225:Dennd4a UTSW 9 64888928 missense possibly damaging 0.94
R5557:Dennd4a UTSW 9 64904227 missense probably benign 0.07
R5649:Dennd4a UTSW 9 64851209 splice site probably null
R5868:Dennd4a UTSW 9 64896729 missense probably benign 0.02
R5876:Dennd4a UTSW 9 64911755 missense probably damaging 1.00
R6052:Dennd4a UTSW 9 64886945 missense probably damaging 1.00
R6411:Dennd4a UTSW 9 64871899 missense probably benign 0.04
R6596:Dennd4a UTSW 9 64852420 missense probably damaging 1.00
R6668:Dennd4a UTSW 9 64886965 missense probably damaging 1.00
R6915:Dennd4a UTSW 9 64852489 nonsense probably null
R7056:Dennd4a UTSW 9 64906923 missense possibly damaging 0.89
R7107:Dennd4a UTSW 9 64894399 missense possibly damaging 0.79
R7203:Dennd4a UTSW 9 64896474 missense probably benign 0.05
R7238:Dennd4a UTSW 9 64861956 missense probably damaging 1.00
R7373:Dennd4a UTSW 9 64897269 missense probably benign 0.01
X0026:Dennd4a UTSW 9 64897320 missense possibly damaging 0.67
Z1088:Dennd4a UTSW 9 64872022 missense probably damaging 1.00
Posted On2016-08-02