Incidental Mutation 'IGL03346:Dennd4a'
ID 417454
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dennd4a
Ensembl Gene ENSMUSG00000053641
Gene Name DENN/MADD domain containing 4A
Synonyms F730015K02Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.432) question?
Stock # IGL03346
Quality Score
Status
Chromosome 9
Chromosomal Location 64811340-64919667 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64888526 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 711 (R711G)
Ref Sequence ENSEMBL: ENSMUSP00000037915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038890]
AlphaFold E9Q8V6
Predicted Effect possibly damaging
Transcript: ENSMUST00000038890
AA Change: R711G

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: R711G

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 C T 16: 29,314,604 (GRCm38) V410M probably benign Het
Cdkn2aip G T 8: 47,713,618 (GRCm38) D51E probably benign Het
Chd6 A G 2: 160,960,362 (GRCm38) V2184A probably benign Het
Clcn1 C T 6: 42,311,219 (GRCm38) T797I probably benign Het
Cldn23 G A 8: 35,825,440 (GRCm38) probably benign Het
Cntnap4 A G 8: 112,773,576 (GRCm38) D500G probably benign Het
Cog5 A T 12: 31,894,038 (GRCm38) I641F possibly damaging Het
Cr2 A T 1: 195,169,759 (GRCm38) V94E probably damaging Het
Creg2 T G 1: 39,650,747 (GRCm38) D65A probably damaging Het
Efr3b A G 12: 3,984,648 (GRCm38) V58A probably damaging Het
Fbxo3 A G 2: 104,050,294 (GRCm38) T250A probably damaging Het
Fzr1 T C 10: 81,369,184 (GRCm38) T300A probably benign Het
Gabrg1 A T 5: 70,778,131 (GRCm38) Y227N possibly damaging Het
Gins3 A G 8: 95,643,275 (GRCm38) I197V probably benign Het
Gm17079 T C 14: 51,692,963 (GRCm38) T142A possibly damaging Het
Gm8909 C A 17: 36,168,109 (GRCm38) D83Y probably damaging Het
Gna15 T C 10: 81,503,045 (GRCm38) Y320C probably damaging Het
Hibch G A 1: 52,920,380 (GRCm38) probably benign Het
Kif5b G A 18: 6,222,767 (GRCm38) R355W probably damaging Het
Klf1 T C 8: 84,902,932 (GRCm38) S129P probably benign Het
Lyl1 C T 8: 84,702,671 (GRCm38) P3L possibly damaging Het
Nat8f5 A G 6: 85,817,658 (GRCm38) S107P probably damaging Het
Olfr331 A G 11: 58,501,755 (GRCm38) L267P possibly damaging Het
Olfr938 C A 9: 39,077,961 (GRCm38) Q261H probably benign Het
Olfr938 T A 9: 39,077,962 (GRCm38) Q261L probably damaging Het
Pcdhb18 G A 18: 37,489,621 (GRCm38) M1I probably null Het
Plcb3 A G 19: 6,955,052 (GRCm38) F1080L probably benign Het
Polr2g T C 19: 8,798,305 (GRCm38) H14R probably damaging Het
Rp1l1 A G 14: 64,029,440 (GRCm38) D825G probably benign Het
Scn3a G A 2: 65,536,672 (GRCm38) A2V probably damaging Het
Slc25a54 T C 3: 109,085,730 (GRCm38) probably benign Het
Smad9 C A 3: 54,789,215 (GRCm38) Q234K probably benign Het
Tie1 T C 4: 118,472,828 (GRCm38) Y1066C probably damaging Het
Traf1 T C 2: 34,948,472 (GRCm38) E118G probably benign Het
Ttc21b T C 2: 66,237,848 (GRCm38) D278G possibly damaging Het
Uaca C A 9: 60,854,318 (GRCm38) T204K probably damaging Het
Utrn A T 10: 12,525,352 (GRCm38) Y154N probably benign Het
Virma A G 4: 11,518,984 (GRCm38) T694A probably benign Het
Vmn2r50 T C 7: 10,046,002 (GRCm38) D500G probably damaging Het
Vmn2r59 T A 7: 42,043,829 (GRCm38) H449L probably benign 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
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
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
Posted On 2016-08-02