Incidental Mutation 'R6520:Dennd1a'
ID 521070
Institutional Source Beutler Lab
Gene Symbol Dennd1a
Ensembl Gene ENSMUSG00000035392
Gene Name DENN domain containing 1A
Synonyms 6030446I19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R6520 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 37689003-38177402 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 37851759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102787] [ENSMUST00000102787] [ENSMUST00000102787] [ENSMUST00000130472] [ENSMUST00000130472] [ENSMUST00000130472] [ENSMUST00000140552] [ENSMUST00000150896]
AlphaFold Q8K382
Predicted Effect probably null
Transcript: ENSMUST00000102787
SMART Domains Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392

DomainStartEndE-ValueType
uDENN 9 91 1.44e-26 SMART
DENN 92 273 2.09e-73 SMART
dDENN 304 371 1.37e-18 SMART
low complexity region 497 508 N/A INTRINSIC
low complexity region 689 702 N/A INTRINSIC
low complexity region 747 761 N/A INTRINSIC
low complexity region 772 786 N/A INTRINSIC
low complexity region 801 815 N/A INTRINSIC
low complexity region 822 856 N/A INTRINSIC
low complexity region 952 972 N/A INTRINSIC
low complexity region 991 1004 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000102787
SMART Domains Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392

DomainStartEndE-ValueType
uDENN 9 91 1.44e-26 SMART
DENN 92 273 2.09e-73 SMART
dDENN 304 371 1.37e-18 SMART
low complexity region 497 508 N/A INTRINSIC
low complexity region 689 702 N/A INTRINSIC
low complexity region 747 761 N/A INTRINSIC
low complexity region 772 786 N/A INTRINSIC
low complexity region 801 815 N/A INTRINSIC
low complexity region 822 856 N/A INTRINSIC
low complexity region 952 972 N/A INTRINSIC
low complexity region 991 1004 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000102787
SMART Domains Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392

DomainStartEndE-ValueType
uDENN 9 91 1.44e-26 SMART
DENN 92 273 2.09e-73 SMART
dDENN 304 371 1.37e-18 SMART
low complexity region 497 508 N/A INTRINSIC
low complexity region 689 702 N/A INTRINSIC
low complexity region 747 761 N/A INTRINSIC
low complexity region 772 786 N/A INTRINSIC
low complexity region 801 815 N/A INTRINSIC
low complexity region 822 856 N/A INTRINSIC
low complexity region 952 972 N/A INTRINSIC
low complexity region 991 1004 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000130472
SMART Domains Protein: ENSMUSP00000119892
Gene: ENSMUSG00000035392

DomainStartEndE-ValueType
Blast:uDENN 9 64 4e-20 BLAST
PDB:3TW8|C 44 105 3e-24 PDB
Predicted Effect probably null
Transcript: ENSMUST00000130472
SMART Domains Protein: ENSMUSP00000119892
Gene: ENSMUSG00000035392

DomainStartEndE-ValueType
Blast:uDENN 9 64 4e-20 BLAST
PDB:3TW8|C 44 105 3e-24 PDB
Predicted Effect probably null
Transcript: ENSMUST00000130472
SMART Domains Protein: ENSMUSP00000119892
Gene: ENSMUSG00000035392

DomainStartEndE-ValueType
Blast:uDENN 9 64 4e-20 BLAST
PDB:3TW8|C 44 105 3e-24 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000140552
Predicted Effect probably benign
Transcript: ENSMUST00000150896
SMART Domains Protein: ENSMUSP00000116723
Gene: ENSMUSG00000035392

DomainStartEndE-ValueType
uDENN 9 91 1.44e-26 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T C 11: 23,467,285 (GRCm39) D116G possibly damaging Het
Adam22 C T 5: 8,166,635 (GRCm39) V699M probably damaging Het
Adh7 A G 3: 137,929,771 (GRCm39) Y149C probably damaging Het
Adissp G T 2: 130,989,174 (GRCm39) H111N probably damaging Het
Angptl3 A C 4: 98,926,085 (GRCm39) N405T probably benign Het
Ank3 A G 10: 69,824,217 (GRCm39) H180R probably damaging Het
Apob T A 12: 8,033,124 (GRCm39) I159N probably damaging Het
Arhgap24 T C 5: 103,028,659 (GRCm39) V185A probably benign Het
Atf6 A T 1: 170,695,238 (GRCm39) H11Q probably benign Het
Atxn3 C A 12: 101,900,660 (GRCm39) D208Y probably damaging Het
Brd9 G A 13: 74,090,913 (GRCm39) R273K probably benign Het
Cbfa2t3 T A 8: 123,362,540 (GRCm39) R302W probably benign Het
Ccdc175 C A 12: 72,186,804 (GRCm39) G347C probably damaging Het
Ccdc87 A G 19: 4,891,817 (GRCm39) K770E probably damaging Het
Ccl17 T C 8: 95,537,178 (GRCm39) F27L probably benign Het
Cd3g A T 9: 44,882,613 (GRCm39) probably null Het
Cep350 A G 1: 155,809,082 (GRCm39) V498A probably benign Het
Cfap45 A G 1: 172,368,151 (GRCm39) D381G probably damaging Het
Cfap46 A G 7: 139,194,321 (GRCm39) probably null Het
Cnrip1 T A 11: 17,028,536 (GRCm39) M156K probably damaging Het
Col23a1 T C 11: 51,440,552 (GRCm39) probably null Het
Col4a1 C T 8: 11,269,152 (GRCm39) G933S probably damaging Het
Col5a3 C T 9: 20,685,348 (GRCm39) V1443I unknown Het
Col6a6 T C 9: 105,663,024 (GRCm39) E171G possibly damaging Het
Dlk2 C T 17: 46,613,438 (GRCm39) T188I probably damaging Het
Dusp8 A G 7: 141,637,418 (GRCm39) I203T probably damaging Het
Eno2 C T 6: 124,744,678 (GRCm39) R56H probably damaging Het
Erich3 A T 3: 154,469,102 (GRCm39) T1185S probably damaging Het
Evi5l A T 8: 4,255,906 (GRCm39) Q575L possibly damaging Het
Fam187a T A 11: 102,776,701 (GRCm39) H168Q possibly damaging Het
Fat2 T A 11: 55,175,814 (GRCm39) E1633V probably damaging Het
Fbln2 G A 6: 91,236,641 (GRCm39) D719N probably damaging Het
Fbn2 A T 18: 58,235,462 (GRCm39) S672T probably damaging Het
Gas8 C G 8: 124,253,213 (GRCm39) A187G probably benign Het
Gm2696 G A 10: 77,672,332 (GRCm39) probably benign Het
Gnl1 A T 17: 36,293,845 (GRCm39) K272M probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hemgn T G 4: 46,396,466 (GRCm39) K257Q probably damaging Het
Hgsnat T C 8: 26,443,328 (GRCm39) Y474C probably damaging Het
Hoxc4 T C 15: 102,943,380 (GRCm39) S78P probably benign Het
Igkv14-100 T A 6: 68,496,218 (GRCm39) L37Q probably damaging Het
Iqck A T 7: 118,540,854 (GRCm39) K251M probably damaging Het
Itgal A T 7: 126,929,503 (GRCm39) Q1140L probably benign Het
Itpka A G 2: 119,581,259 (GRCm39) R431G probably benign Het
Jade1 A G 3: 41,558,917 (GRCm39) N333D possibly damaging Het
Jmjd7 A G 2: 119,861,800 (GRCm39) H181R probably damaging Het
Jmy A G 13: 93,590,547 (GRCm39) S519P probably benign Het
Klra10 T A 6: 130,252,755 (GRCm39) H173L probably benign Het
Krt72 T G 15: 101,689,481 (GRCm39) I284L probably benign Het
Krt78 C A 15: 101,860,206 (GRCm39) V237F probably benign Het
Mapkapk3 G A 9: 107,134,648 (GRCm39) T296M probably damaging Het
Mcmbp A C 7: 128,314,451 (GRCm39) V255G possibly damaging Het
Mcoln1 T G 8: 3,555,855 (GRCm39) M50R probably damaging Het
Mocos T A 18: 24,799,447 (GRCm39) V227E probably benign Het
Mpeg1 A G 19: 12,439,322 (GRCm39) E260G probably benign Het
Mrc1 A T 2: 14,312,760 (GRCm39) N894I probably damaging Het
Mroh7 A G 4: 106,578,460 (GRCm39) S73P probably benign Het
Myo3a A T 2: 22,404,737 (GRCm39) I690L possibly damaging Het
Naa50 T G 16: 43,979,872 (GRCm39) F87V probably damaging Het
Ndufs6 G T 13: 73,476,471 (GRCm39) T32K probably damaging Het
Nfe2l2 A G 2: 75,506,912 (GRCm39) V396A probably benign Het
Nptn A G 9: 58,551,017 (GRCm39) E348G probably damaging Het
Nsun4 A T 4: 115,901,935 (GRCm39) L177Q probably damaging Het
Or56b1b A G 7: 108,164,046 (GRCm39) *319Q probably null Het
Or8d6 T C 9: 39,853,658 (GRCm39) I34T possibly damaging Het
Or8k36-ps1 A G 2: 86,437,462 (GRCm39) L151P unknown Het
Plekha7 A G 7: 115,763,717 (GRCm39) V233A probably benign Het
Polq C A 16: 36,880,739 (GRCm39) Q968K possibly damaging Het
Prmt7 C T 8: 106,961,516 (GRCm39) T143M probably damaging Het
Ptprc G A 1: 138,007,881 (GRCm39) Q886* probably null Het
Rbp7 C A 4: 149,537,371 (GRCm39) V36L possibly damaging Het
Rev3l A T 10: 39,698,698 (GRCm39) N1065I probably benign Het
Scamp5 A T 9: 57,354,489 (GRCm39) probably null Het
Sec16a A G 2: 26,316,118 (GRCm39) S1698P probably damaging Het
Spr C A 6: 85,114,474 (GRCm39) R85L probably benign Het
Sptlc2 A C 12: 87,402,436 (GRCm39) N163K probably benign Het
Stk10 C T 11: 32,538,839 (GRCm39) T226M probably damaging Het
Sv2c A G 13: 96,123,229 (GRCm39) Y415H probably benign Het
Tet1 A G 10: 62,715,792 (GRCm39) M1T probably null Het
Tnnt1 T A 7: 4,512,060 (GRCm39) K150* probably null Het
Trappc10 C T 10: 78,037,287 (GRCm39) V839M probably benign Het
Ubap2 T C 4: 41,195,155 (GRCm39) N1131S probably damaging Het
Upk2 T C 9: 44,364,803 (GRCm39) E132G probably damaging Het
Vmn2r117 A T 17: 23,679,193 (GRCm39) V677D probably damaging Het
Vps13a A T 19: 16,702,943 (GRCm39) L670H probably damaging Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zfp512 G A 5: 31,623,984 (GRCm39) R67H probably damaging Het
Zfp804b T A 5: 6,819,283 (GRCm39) H1260L probably damaging Het
Zzef1 C A 11: 72,716,891 (GRCm39) N360K probably damaging Het
Other mutations in Dennd1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Dennd1a APN 2 38,133,454 (GRCm39) nonsense probably null
IGL00490:Dennd1a APN 2 37,691,164 (GRCm39) missense probably damaging 1.00
IGL00839:Dennd1a APN 2 37,706,994 (GRCm39) missense probably benign 0.30
IGL01065:Dennd1a APN 2 37,734,917 (GRCm39) missense probably benign 0.02
IGL01621:Dennd1a APN 2 37,734,821 (GRCm39) missense probably damaging 1.00
IGL01792:Dennd1a APN 2 38,016,592 (GRCm39) missense probably damaging 1.00
IGL01799:Dennd1a APN 2 37,938,754 (GRCm39) missense probably damaging 1.00
IGL02516:Dennd1a APN 2 37,742,406 (GRCm39) critical splice donor site probably null
contract UTSW 2 37,742,453 (GRCm39) missense possibly damaging 0.89
R0018:Dennd1a UTSW 2 37,748,472 (GRCm39) missense possibly damaging 0.72
R0018:Dennd1a UTSW 2 37,748,472 (GRCm39) missense possibly damaging 0.72
R0144:Dennd1a UTSW 2 38,016,652 (GRCm39) missense probably damaging 0.96
R0784:Dennd1a UTSW 2 37,911,426 (GRCm39) missense probably damaging 1.00
R1199:Dennd1a UTSW 2 37,851,728 (GRCm39) missense probably damaging 0.99
R1439:Dennd1a UTSW 2 37,933,412 (GRCm39) missense probably damaging 1.00
R1563:Dennd1a UTSW 2 37,748,441 (GRCm39) missense probably damaging 1.00
R1608:Dennd1a UTSW 2 37,742,446 (GRCm39) missense probably benign 0.18
R1720:Dennd1a UTSW 2 37,690,209 (GRCm39) nonsense probably null
R1967:Dennd1a UTSW 2 37,734,845 (GRCm39) missense probably benign
R2570:Dennd1a UTSW 2 37,734,795 (GRCm39) missense probably damaging 1.00
R3886:Dennd1a UTSW 2 37,748,089 (GRCm39) missense possibly damaging 0.89
R4464:Dennd1a UTSW 2 38,133,402 (GRCm39) splice site probably benign
R4890:Dennd1a UTSW 2 38,066,238 (GRCm39) intron probably benign
R5395:Dennd1a UTSW 2 37,692,140 (GRCm39) missense probably damaging 1.00
R5652:Dennd1a UTSW 2 37,691,138 (GRCm39) missense probably benign 0.00
R5882:Dennd1a UTSW 2 37,851,675 (GRCm39) missense probably damaging 1.00
R6285:Dennd1a UTSW 2 37,742,453 (GRCm39) missense possibly damaging 0.89
R6934:Dennd1a UTSW 2 37,691,225 (GRCm39) missense possibly damaging 0.62
R7053:Dennd1a UTSW 2 37,851,666 (GRCm39) missense probably damaging 1.00
R7109:Dennd1a UTSW 2 37,938,804 (GRCm39) missense probably damaging 1.00
R7204:Dennd1a UTSW 2 37,929,215 (GRCm39) missense probably damaging 1.00
R7235:Dennd1a UTSW 2 37,691,073 (GRCm39) missense probably benign
R7408:Dennd1a UTSW 2 37,742,184 (GRCm39) splice site probably null
R7446:Dennd1a UTSW 2 37,706,991 (GRCm39) missense possibly damaging 0.89
R7579:Dennd1a UTSW 2 37,748,444 (GRCm39) missense probably damaging 0.99
R7645:Dennd1a UTSW 2 37,911,375 (GRCm39) missense probably damaging 1.00
R7661:Dennd1a UTSW 2 37,734,841 (GRCm39) missense probably benign
R8132:Dennd1a UTSW 2 37,748,072 (GRCm39) missense probably damaging 1.00
R8305:Dennd1a UTSW 2 37,748,093 (GRCm39) missense probably damaging 1.00
R8369:Dennd1a UTSW 2 37,938,766 (GRCm39) missense probably damaging 1.00
R8418:Dennd1a UTSW 2 37,748,403 (GRCm39) missense probably benign 0.36
R8438:Dennd1a UTSW 2 37,746,150 (GRCm39) missense probably benign 0.08
R8544:Dennd1a UTSW 2 37,872,920 (GRCm39) splice site probably null
R8997:Dennd1a UTSW 2 37,690,497 (GRCm39) missense probably benign 0.14
R9052:Dennd1a UTSW 2 37,911,463 (GRCm39) missense probably damaging 1.00
R9087:Dennd1a UTSW 2 37,911,366 (GRCm39) critical splice donor site probably null
R9096:Dennd1a UTSW 2 37,690,077 (GRCm39) missense probably damaging 1.00
R9346:Dennd1a UTSW 2 37,911,447 (GRCm39) missense probably benign 0.12
Z1088:Dennd1a UTSW 2 37,690,704 (GRCm39) missense probably benign
Z1177:Dennd1a UTSW 2 37,690,269 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACCGTGATGCACACTAGGC -3'
(R):5'- ATCCCTGAGATTTATTGGTGGAAG -3'

Sequencing Primer
(F):5'- TGATGCACACTAGGCCCTGAAC -3'
(R):5'- GGCAGGTGATGATGCAAATC -3'
Posted On 2018-06-06