Incidental Mutation 'R1608:Dennd1a'
ID 176602
Institutional Source Beutler Lab
Gene Symbol Dennd1a
Ensembl Gene ENSMUSG00000035392
Gene Name DENN domain containing 1A
Synonyms 6030446I19Rik
MMRRC Submission 039645-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R1608 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 37689003-38177402 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 37742446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 3 (M3L)
Ref Sequence ENSEMBL: ENSMUSP00000115527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102787] [ENSMUST00000136460] [ENSMUST00000140552]
AlphaFold Q8K382
Predicted Effect probably benign
Transcript: ENSMUST00000102787
AA Change: M440L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392
AA Change: M440L

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 benign
Transcript: ENSMUST00000136460
AA Change: M3L

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000115527
Gene: ENSMUSG00000035392
AA Change: M3L

DomainStartEndE-ValueType
low complexity region 60 71 N/A INTRINSIC
low complexity region 102 114 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140552
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 A G 9: 30,813,775 (GRCm39) S797P probably damaging Het
Akap9 T C 5: 4,011,783 (GRCm39) Y829H probably damaging Het
Anp32a A G 9: 62,279,375 (GRCm39) D74G probably damaging Het
B3gat1 T C 9: 26,663,112 (GRCm39) I13T probably damaging Het
Cbfa2t3 A T 8: 123,374,448 (GRCm39) V99D probably damaging Het
Celsr2 C T 3: 108,309,799 (GRCm39) C1600Y probably damaging Het
Ddx31 T A 2: 28,749,078 (GRCm39) N291K probably damaging Het
Dnah12 C T 14: 26,488,147 (GRCm39) P1017L probably damaging Het
Dnajc6 A T 4: 101,456,364 (GRCm39) D86V probably damaging Het
Evx2 T G 2: 74,488,195 (GRCm39) K208N probably damaging Het
F13a1 A G 13: 37,052,785 (GRCm39) V718A probably damaging Het
Fcho2 T C 13: 98,862,706 (GRCm39) D757G probably benign Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Fryl C T 5: 73,232,094 (GRCm39) W424* probably null Het
Gata3 G T 2: 9,879,579 (GRCm39) Y97* probably null Het
Gm15446 T A 5: 110,090,323 (GRCm39) C192S probably damaging Het
Hdac10 A T 15: 89,009,521 (GRCm39) D470E probably benign Het
Ier2 A G 8: 85,389,055 (GRCm39) L109P probably benign Het
Iftap T C 2: 101,440,916 (GRCm39) E29G probably damaging Het
Kcnh2 T C 5: 24,527,217 (GRCm39) T559A probably benign Het
Khk C T 5: 31,087,938 (GRCm39) A204V probably damaging Het
Kndc1 T A 7: 139,507,321 (GRCm39) M1169K possibly damaging Het
Krtap31-1 A G 11: 99,798,919 (GRCm39) S41G probably benign Het
Nabp1 T C 1: 51,512,162 (GRCm39) probably null Het
Nphp3 A G 9: 103,913,039 (GRCm39) D939G probably benign Het
Or5e1 A T 7: 108,354,309 (GRCm39) N82I probably damaging Het
Plcg2 T C 8: 118,340,974 (GRCm39) I1089T possibly damaging Het
Ptk2 A T 15: 73,134,424 (GRCm39) D558E probably damaging Het
Serpinb6d A G 13: 33,853,112 (GRCm39) D168G probably benign Het
Shisa8 G A 15: 82,092,756 (GRCm39) P189L probably damaging Het
Shkbp1 A G 7: 27,054,204 (GRCm39) V89A probably benign Het
Slc40a1 C T 1: 45,950,457 (GRCm39) A332T probably damaging Het
Slc44a3 A T 3: 121,291,496 (GRCm39) Y373* probably null Het
Slf2 T C 19: 44,937,440 (GRCm39) V722A probably benign Het
Spanxn4 A G 12: 62,734,624 (GRCm39) noncoding transcript Het
Stag3 T A 5: 138,296,901 (GRCm39) probably null Het
Tanc1 T C 2: 59,628,038 (GRCm39) I612T possibly damaging Het
Thbs2 T A 17: 14,906,043 (GRCm39) M286L probably benign Het
Top1 T A 2: 160,545,515 (GRCm39) N294K probably benign Het
Tpr T G 1: 150,302,644 (GRCm39) L1381V probably damaging Het
Trpm8 T G 1: 88,254,154 (GRCm39) S126A probably benign Het
Ttc41 A G 10: 86,611,857 (GRCm39) Y1075C probably damaging Het
Ubox5 C T 2: 130,439,376 (GRCm39) G418D probably benign Het
Vmn1r67 T C 7: 10,180,907 (GRCm39) V57A possibly damaging Het
Zbtb5 T C 4: 44,993,500 (GRCm39) H628R probably damaging Het
Zfp810 T C 9: 22,190,216 (GRCm39) I231V probably benign 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
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
R6520:Dennd1a UTSW 2 37,851,759 (GRCm39) splice site probably null
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'- AGGCTAGGCTACTCTTGCTCTGTG -3'
(R):5'- GCAGAAAATGAAATCTCTGCCGCTC -3'

Sequencing Primer
(F):5'- gtggggtgggttgggag -3'
(R):5'- CAGAGAAGGTGATTCATGGTGGA -3'
Posted On 2014-04-24