Incidental Mutation 'R3160:Dennd1c'
ID 258134
Institutional Source Beutler Lab
Gene Symbol Dennd1c
Ensembl Gene ENSMUSG00000002668
Gene Name DENN domain containing 1C
Synonyms 4432409M07Rik
MMRRC Submission 040611-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3160 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 57373051-57385518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57373562 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 637 (G637D)
Ref Sequence ENSEMBL: ENSMUSP00000011623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011623] [ENSMUST00000071826] [ENSMUST00000097299] [ENSMUST00000163628] [ENSMUST00000163763] [ENSMUST00000169543]
AlphaFold Q8CFK6
Predicted Effect possibly damaging
Transcript: ENSMUST00000011623
AA Change: G637D

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000011623
Gene: ENSMUSG00000002668
AA Change: G637D

DomainStartEndE-ValueType
uDENN 9 89 1.18e-22 SMART
DENN 90 293 3.95e-74 SMART
low complexity region 312 318 N/A INTRINSIC
dDENN 324 391 2.39e-18 SMART
low complexity region 560 579 N/A INTRINSIC
low complexity region 657 675 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071826
SMART Domains Protein: ENSMUSP00000071729
Gene: ENSMUSG00000044279

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
low complexity region 99 108 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097299
SMART Domains Protein: ENSMUSP00000094902
Gene: ENSMUSG00000044279

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
low complexity region 99 108 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163628
SMART Domains Protein: ENSMUSP00000126402
Gene: ENSMUSG00000044279

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
SCOP:d1fwxa1 30 52 5e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163763
SMART Domains Protein: ENSMUSP00000132502
Gene: ENSMUSG00000044279

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
low complexity region 99 108 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169543
SMART Domains Protein: ENSMUSP00000125760
Gene: ENSMUSG00000044279

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
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 DENND1C, 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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Btnl2 T C 17: 34,577,039 (GRCm39) W65R probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Ccdc181 T A 1: 164,107,865 (GRCm39) S183T probably damaging Het
Cep350 T C 1: 155,738,910 (GRCm39) H2311R probably benign Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crbn T C 6: 106,767,827 (GRCm39) Q221R probably benign Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dnajc13 G T 9: 104,097,097 (GRCm39) N510K possibly damaging Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Iqgap1 G A 7: 80,402,086 (GRCm39) A393V probably benign Het
Irak2 G T 6: 113,649,721 (GRCm39) A119S probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Itsn1 C A 16: 91,649,932 (GRCm39) S202* probably null Het
Mill2 A C 7: 18,590,099 (GRCm39) E127A probably benign Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Myo18b A C 5: 112,840,594 (GRCm39) S2400A probably damaging Het
Naa25 A G 5: 121,573,135 (GRCm39) probably null Het
Nop2 A G 6: 125,111,555 (GRCm39) N96S probably benign Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or2z2 T C 11: 58,346,053 (GRCm39) T241A probably damaging Het
Or4c52 T G 2: 89,845,365 (GRCm39) Y30* probably null Het
Pde5a T A 3: 122,575,277 (GRCm39) L356* probably null Het
Prss59 A G 6: 40,903,003 (GRCm39) M123T probably benign Het
Ralgapa1 A T 12: 55,756,371 (GRCm39) N1075K probably damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Serinc2 A G 4: 130,154,528 (GRCm39) S175P probably benign Het
Socs5 A T 17: 87,442,146 (GRCm39) Q362L probably damaging Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Srgap3 A G 6: 112,706,619 (GRCm39) V826A probably benign Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Tuba8 A G 6: 121,199,697 (GRCm39) D127G possibly damaging Het
Tulp4 A G 17: 6,248,983 (GRCm39) M1V probably null Het
Urb1 A G 16: 90,594,791 (GRCm39) L247P probably damaging Het
Usp32 A G 11: 84,916,362 (GRCm39) W861R probably damaging Het
Vmn1r48 G A 6: 90,013,360 (GRCm39) T155I probably benign Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Other mutations in Dennd1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Dennd1c APN 17 57,373,839 (GRCm39) missense probably damaging 0.99
IGL02729:Dennd1c APN 17 57,373,637 (GRCm39) missense probably benign 0.34
IGL03185:Dennd1c APN 17 57,373,803 (GRCm39) missense probably benign 0.00
R0067:Dennd1c UTSW 17 57,382,465 (GRCm39) missense probably damaging 1.00
R0067:Dennd1c UTSW 17 57,382,465 (GRCm39) missense probably damaging 1.00
R0288:Dennd1c UTSW 17 57,383,870 (GRCm39) splice site probably null
R0380:Dennd1c UTSW 17 57,380,822 (GRCm39) missense probably damaging 1.00
R0381:Dennd1c UTSW 17 57,380,822 (GRCm39) missense probably damaging 1.00
R0389:Dennd1c UTSW 17 57,374,649 (GRCm39) missense probably benign 0.02
R1528:Dennd1c UTSW 17 57,373,935 (GRCm39) missense probably benign
R1892:Dennd1c UTSW 17 57,374,083 (GRCm39) missense probably benign 0.00
R1936:Dennd1c UTSW 17 57,380,889 (GRCm39) splice site probably benign
R2216:Dennd1c UTSW 17 57,381,492 (GRCm39) critical splice donor site probably null
R3021:Dennd1c UTSW 17 57,381,180 (GRCm39) critical splice acceptor site probably null
R3162:Dennd1c UTSW 17 57,373,562 (GRCm39) missense possibly damaging 0.87
R3162:Dennd1c UTSW 17 57,373,562 (GRCm39) missense possibly damaging 0.87
R4133:Dennd1c UTSW 17 57,383,980 (GRCm39) missense possibly damaging 0.53
R4831:Dennd1c UTSW 17 57,373,428 (GRCm39) nonsense probably null
R4987:Dennd1c UTSW 17 57,380,852 (GRCm39) missense probably damaging 0.98
R5417:Dennd1c UTSW 17 57,373,755 (GRCm39) frame shift probably null
R5418:Dennd1c UTSW 17 57,373,755 (GRCm39) frame shift probably null
R6241:Dennd1c UTSW 17 57,373,272 (GRCm39) missense probably benign 0.00
R6259:Dennd1c UTSW 17 57,374,104 (GRCm39) missense probably damaging 1.00
R6722:Dennd1c UTSW 17 57,373,802 (GRCm39) missense probably benign
R7099:Dennd1c UTSW 17 57,374,915 (GRCm39) critical splice donor site probably null
R7491:Dennd1c UTSW 17 57,379,379 (GRCm39) missense probably damaging 1.00
R7595:Dennd1c UTSW 17 57,378,633 (GRCm39) missense probably damaging 1.00
R8081:Dennd1c UTSW 17 57,381,139 (GRCm39) missense possibly damaging 0.94
R8198:Dennd1c UTSW 17 57,373,460 (GRCm39) missense possibly damaging 0.84
R8896:Dennd1c UTSW 17 57,381,512 (GRCm39) missense probably damaging 1.00
R9155:Dennd1c UTSW 17 57,373,796 (GRCm39) missense probably benign 0.01
Z1177:Dennd1c UTSW 17 57,381,330 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCTCTGTGGAGACAAGAAGCTG -3'
(R):5'- AGCCTGGTGAGAACTTCCTC -3'

Sequencing Primer
(F):5'- CCTAGTGGGGACTCTGAGGAG -3'
(R):5'- GGTGAGAACTTCCTCTCTGC -3'
Posted On 2015-01-23