Incidental Mutation 'R4987:Dennd1c'
ID 385930
Institutional Source Beutler Lab
Gene Symbol Dennd1c
Ensembl Gene ENSMUSG00000002668
Gene Name DENN domain containing 1C
Synonyms 4432409M07Rik
MMRRC Submission 042581-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4987 (G1)
Quality Score 220
Status Validated
Chromosome 17
Chromosomal Location 57373051-57385518 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57380852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 200 (T200K)
Ref Sequence ENSEMBL: ENSMUSP00000011623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011623]
AlphaFold Q8CFK6
Predicted Effect probably damaging
Transcript: ENSMUST00000011623
AA Change: T200K

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000011623
Gene: ENSMUSG00000002668
AA Change: T200K

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.3%
Validation Efficiency 98% (44/45)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp T C 6: 125,030,725 (GRCm39) S249P probably benign Het
Adcy4 A G 14: 56,010,934 (GRCm39) V661A probably benign Het
Ahdc1 T G 4: 132,791,631 (GRCm39) H957Q possibly damaging Het
Atp10b A G 11: 43,042,440 (GRCm39) probably benign Het
B3gnt5 A T 16: 19,587,952 (GRCm39) N57I probably damaging Het
Brms1l T A 12: 55,912,800 (GRCm39) D264E probably benign Het
Camk1g T A 1: 193,030,783 (GRCm39) N309Y probably damaging Het
Chl1 A G 6: 103,651,938 (GRCm39) T285A probably damaging Het
Cspg4b T C 13: 113,454,635 (GRCm39) V227A probably benign Het
Dpysl3 C A 18: 43,461,492 (GRCm39) M566I probably benign Het
Dscam A T 16: 96,498,721 (GRCm39) D985E probably benign Het
Fmo5 T C 3: 97,542,894 (GRCm39) M68T probably benign Het
Gm26996 A G 6: 130,567,959 (GRCm39) unknown Het
Gm9991 A T 1: 90,603,138 (GRCm39) noncoding transcript Het
Gzmc T A 14: 56,468,997 (GRCm39) I241L probably damaging Het
Hibadh A T 6: 52,599,880 (GRCm39) S105R probably damaging Het
Krt87 A G 15: 101,384,890 (GRCm39) I402T probably benign Het
Krtap31-2 A G 11: 99,827,396 (GRCm39) D76G possibly damaging Het
Lin9 A G 1: 180,496,329 (GRCm39) S249G probably damaging Het
Lpcat1 T A 13: 73,637,222 (GRCm39) probably null Het
Mfap4 A G 11: 61,376,908 (GRCm39) I46V probably benign Het
Nos1 T C 5: 118,064,598 (GRCm39) probably null Het
Nostrin A G 2: 68,986,775 (GRCm39) M107V probably benign Het
Nutm2 C T 13: 50,626,379 (GRCm39) T322I possibly damaging Het
Or8k33 A C 2: 86,383,579 (GRCm39) D296E probably null Het
Pcdha12 T A 18: 37,154,604 (GRCm39) V441E probably damaging Het
Plcd4 A G 1: 74,587,118 (GRCm39) probably benign Het
Plscr1l1 T C 9: 92,236,637 (GRCm39) S175P probably damaging Het
Ppme1 T C 7: 99,994,278 (GRCm39) D145G probably benign Het
Rbm25 T C 12: 83,724,630 (GRCm39) V793A probably damaging Het
Rlbp1 A T 7: 79,029,879 (GRCm39) V118E probably damaging Het
Serinc2 C T 4: 130,156,820 (GRCm39) probably null Het
Slc25a32 A G 15: 38,963,414 (GRCm39) C136R possibly damaging Het
Smco2 A G 6: 146,757,590 (GRCm39) D48G possibly damaging Het
Trpv4 T C 5: 114,760,793 (GRCm39) D846G probably benign Het
Ubr1 A T 2: 120,794,047 (GRCm39) L46I probably benign Het
Wdsub1 A G 2: 59,700,737 (GRCm39) probably benign Het
Zp3 T A 5: 136,016,359 (GRCm39) C320* probably null 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
R3160: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
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
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'- GTGCAACCTCCTCAGATTGTTC -3'
(R):5'- AGTAGTAGAGCTGAGGTCCCTC -3'

Sequencing Primer
(F):5'- TCTGACAGGGGTGGGAC -3'
(R):5'- TCAGGCCATAGCAGAGGTCAC -3'
Posted On 2016-05-10