Incidental Mutation 'IGL01610:Dennd4a'
ID91987
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? Possibly non essential (E-score: 0.481) question?
Stock #IGL01610
Quality Score
Status
Chromosome9
Chromosomal Location64811340-64919667 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 64906884 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 1461 (V1461A)
Ref Sequence ENSEMBL: ENSMUSP00000037915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038890]
Predicted Effect probably damaging
Transcript: ENSMUST00000038890
AA Change: V1461A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037915
Gene: ENSMUSG00000053641
AA Change: V1461A

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
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018A14Rik T C 18: 46,199,566 probably benign Het
2810474O19Rik C T 6: 149,328,951 T1165M probably benign Het
4921524J17Rik T C 8: 85,412,242 I73V probably benign Het
4930562C15Rik T A 16: 4,851,565 probably benign Het
Abca15 T A 7: 120,340,644 V323D probably damaging Het
Acot10 T C 15: 20,665,695 Y320C probably damaging Het
Acp6 T A 3: 97,175,720 V349D possibly damaging Het
Adcy9 G T 16: 4,418,114 Q478K probably damaging Het
Akap13 A G 7: 75,720,180 I1843V possibly damaging Het
Akap13 A T 7: 75,747,605 I2528F probably damaging Het
Akap9 G A 5: 4,032,839 A1988T possibly damaging Het
Alox5 C T 6: 116,413,547 V490M probably damaging Het
Aspm C T 1: 139,489,670 R1537* probably null Het
Bmf G A 2: 118,549,158 P46S probably benign Het
Brf1 T A 12: 112,988,083 H92L probably benign Het
Chchd1 A G 14: 20,703,177 N35S probably benign Het
Cntnap3 C T 13: 64,757,301 G889S probably damaging Het
Col6a4 T C 9: 106,047,707 probably benign Het
Crispld1 A G 1: 17,746,725 probably null Het
Ddx27 T C 2: 167,022,044 probably benign Het
Dennd1b A G 1: 139,169,766 probably benign Het
Drc7 C T 8: 95,077,802 R843W probably damaging Het
Dync2li1 A G 17: 84,628,314 E13G probably damaging Het
Egf A G 3: 129,706,260 probably benign Het
Hpse2 T C 19: 43,384,789 S134G probably benign Het
Hydin A G 8: 110,557,713 T3206A probably benign Het
Ier5l T A 2: 30,473,954 S20C probably damaging Het
Il1r1 A G 1: 40,302,400 E324G probably benign Het
Kdm4b C T 17: 56,353,522 probably benign Het
Lztfl1 T A 9: 123,700,091 E298D probably benign Het
Myo1b A T 1: 51,776,246 M647K probably damaging Het
Olfr1106 G T 2: 87,048,288 probably benign Het
Olfr539 C T 7: 140,667,671 A128V probably damaging Het
Olfr619 A T 7: 103,604,067 T138S probably benign Het
Parvb A T 15: 84,303,465 K258M probably damaging Het
Pcdhb11 T G 18: 37,423,359 S581A probably benign Het
Pcnx2 C A 8: 125,839,633 A1024S possibly damaging Het
Pde4a T C 9: 21,211,350 probably benign Het
Pgr A T 9: 8,903,691 H571L possibly damaging Het
Phf20 G T 2: 156,302,889 E806* probably null Het
Pilra T A 5: 137,835,541 I85F probably damaging Het
Pla2g2f C T 4: 138,753,311 V125M probably damaging Het
Rb1cc1 A G 1: 6,248,481 N708S probably benign Het
Rnase4 A T 14: 51,104,921 Y34F probably damaging Het
Ropn1 A T 16: 34,666,771 I26F probably damaging Het
Rpl9-ps6 T A 19: 32,466,299 T85S probably benign Het
Scaf8 C T 17: 3,195,849 P738S probably damaging Het
Sec31a A T 5: 100,402,358 probably benign Het
Sel1l C T 12: 91,817,290 V459I probably damaging Het
Senp7 A T 16: 56,175,823 D755V possibly damaging Het
Serpinb9d A T 13: 33,198,002 K151N probably benign Het
Slc8a3 A G 12: 81,315,802 F81S probably damaging Het
Spire2 T A 8: 123,356,763 L162Q probably damaging Het
Syt17 A G 7: 118,433,993 I264T possibly damaging Het
Tbl3 A T 17: 24,704,044 V379D probably damaging Het
Tenm3 A T 8: 48,254,477 L1762Q probably damaging Het
Trerf1 A T 17: 47,319,575 noncoding transcript Het
Ttc13 T C 8: 124,676,344 D552G probably damaging Het
Tuba3a G T 6: 125,278,566 T382K possibly damaging Het
Vmn1r210 A T 13: 22,827,807 V103E probably damaging Het
Vmn1r80 A G 7: 12,193,380 H139R possibly damaging Het
Xpo7 A T 14: 70,703,230 F141Y probably damaging Het
Zfp143 T A 7: 110,074,126 Y143* probably null Het
Zfp207 T A 11: 80,385,970 C26S probably damaging Het
Other mutations in Dennd4a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Dennd4a APN 9 64911762 missense probably damaging 1.00
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
IGL03349:Dennd4a APN 9 64888974 missense probably damaging 1.00
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 splice site 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
R7454:Dennd4a UTSW 9 64852570 missense probably damaging 1.00
R7546:Dennd4a UTSW 9 64873044 missense probably damaging 1.00
R7590:Dennd4a UTSW 9 64888587 missense probably benign 0.01
R7662:Dennd4a UTSW 9 64852431 missense probably damaging 1.00
R7782:Dennd4a UTSW 9 64906920 missense probably damaging 0.98
R7909:Dennd4a UTSW 9 64872993 critical splice acceptor site probably null
R7976:Dennd4a UTSW 9 64852512 missense possibly damaging 0.95
R8026:Dennd4a UTSW 9 64873030 missense probably damaging 1.00
R8034:Dennd4a UTSW 9 64888568 missense probably benign 0.01
R8089:Dennd4a UTSW 9 64849175 missense probably damaging 1.00
R8298:Dennd4a UTSW 9 64906875 missense probably benign 0.00
R8397:Dennd4a UTSW 9 64889109 missense probably benign
R8425:Dennd4a UTSW 9 64838974 missense probably damaging 1.00
R8495:Dennd4a UTSW 9 64886879 missense probably damaging 1.00
X0026:Dennd4a UTSW 9 64897320 missense possibly damaging 0.67
Z1088:Dennd4a UTSW 9 64872022 missense probably damaging 1.00
Posted On2013-12-09