Incidental Mutation 'IGL02100:Dennd2c'
ID279705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dennd2c
Ensembl Gene ENSMUSG00000007379
Gene NameDENN/MADD domain containing 2C
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02100
Quality Score
Status
Chromosome3
Chromosomal Location103102604-103169769 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 103153675 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 561 (S561N)
Ref Sequence ENSEMBL: ENSMUSP00000127187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172288] [ENSMUST00000173206]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166143
Predicted Effect probably damaging
Transcript: ENSMUST00000172288
AA Change: S561N

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379
AA Change: S561N

DomainStartEndE-ValueType
uDENN 481 571 1.01e-25 SMART
DENN 578 762 3.36e-77 SMART
dDENN 806 873 1.15e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173037
Predicted Effect probably benign
Transcript: ENSMUST00000173206
AA Change: S504N

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379
AA Change: S504N

DomainStartEndE-ValueType
uDENN 424 514 1.01e-25 SMART
DENN 521 705 3.36e-77 SMART
dDENN 749 816 1.15e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174060
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174486
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A T 3: 36,081,880 Q347L probably null Het
Acvr2a T C 2: 48,898,618 probably benign Het
Ankrd28 T C 14: 31,727,625 probably benign Het
Atp6v1b1 A G 6: 83,758,444 Y498C probably damaging Het
Cdh3 G A 8: 106,543,690 V400I probably benign Het
Chrnb1 G T 11: 69,793,455 probably benign Het
Col1a2 A G 6: 4,524,177 probably benign Het
Cyp2j7 A G 4: 96,236,556 L35P probably damaging Het
Dennd4a A T 9: 64,909,706 probably benign Het
Dynll1 A C 5: 115,298,793 V58G probably damaging Het
Eif3a A T 19: 60,767,004 probably benign Het
Ercc6 T C 14: 32,517,095 S47P probably benign Het
Fam76b A G 9: 13,844,120 probably benign Het
Gbp4 T A 5: 105,122,075 probably benign Het
Gdi2 T C 13: 3,556,373 F140L probably benign Het
Gm28043 T C 17: 29,691,426 probably null Het
Gm5117 T A 8: 31,737,384 noncoding transcript Het
Gstm6 G T 3: 107,942,337 N85K probably benign Het
Hip1r C T 5: 123,998,943 probably benign Het
Igf1r T C 7: 68,189,958 I671T probably benign Het
Insrr T G 3: 87,811,620 F961C probably damaging Het
Kbtbd8 T C 6: 95,122,682 Y314H probably damaging Het
Kif26b C A 1: 178,915,947 L756I probably damaging Het
Lcor G A 19: 41,558,754 R259Q possibly damaging Het
Mad1l1 T A 5: 140,143,934 S449C probably damaging Het
Map1a T G 2: 121,302,846 L1381R probably damaging Het
Mdn1 G T 4: 32,715,708 V1992L possibly damaging Het
Pigp G A 16: 94,364,767 Q99* probably null Het
Rgs8 A T 1: 153,692,723 probably null Het
Rnf170 T A 8: 26,123,984 L36H probably damaging Het
Rpap1 T C 2: 119,769,326 S1004G probably benign Het
Rpl10a-ps2 T C 13: 8,940,743 probably benign Het
Ryr2 T A 13: 11,737,873 E1854V possibly damaging Het
Scn7a T G 2: 66,675,499 *1682S probably null Het
Sema3d A G 5: 12,584,991 T675A probably benign Het
Slc1a2 T C 2: 102,756,089 F346S probably damaging Het
St14 G T 9: 31,100,130 probably benign Het
Stard5 T C 7: 83,640,445 V173A possibly damaging Het
Taf1b A G 12: 24,544,395 Y309C possibly damaging Het
Tet1 T C 10: 62,812,728 N1975S possibly damaging Het
Them5 T A 3: 94,344,475 I131N probably damaging Het
Tmem55a T C 4: 14,893,536 I133T probably benign Het
Tnc A C 4: 64,000,161 V1171G possibly damaging Het
Ttc12 C A 9: 49,440,182 G672W probably damaging Het
Usp8 T C 2: 126,737,854 probably benign Het
Utp4 A G 8: 106,898,175 N92S probably benign Het
Was A T X: 8,090,315 F38L possibly damaging Het
Wdr78 A G 4: 103,050,149 C647R probably damaging Het
Other mutations in Dennd2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01763:Dennd2c APN 3 103156908 missense probably damaging 1.00
IGL01791:Dennd2c APN 3 103166425 missense probably benign 0.19
IGL02119:Dennd2c APN 3 103137243 missense probably damaging 0.99
IGL02395:Dennd2c APN 3 103157765 missense probably benign 0.00
IGL02631:Dennd2c APN 3 103156071 missense possibly damaging 0.56
IGL02895:Dennd2c APN 3 103137203 missense possibly damaging 0.76
R1749:Dennd2c UTSW 3 103132036 missense possibly damaging 0.92
R1931:Dennd2c UTSW 3 103133252 missense probably benign 0.32
R1964:Dennd2c UTSW 3 103166491 missense probably damaging 1.00
R1972:Dennd2c UTSW 3 103131698 missense probably benign 0.01
R1973:Dennd2c UTSW 3 103131698 missense probably benign 0.01
R2025:Dennd2c UTSW 3 103131689 missense possibly damaging 0.71
R2350:Dennd2c UTSW 3 103132001 missense probably benign 0.00
R2373:Dennd2c UTSW 3 103156842 missense probably damaging 0.99
R4555:Dennd2c UTSW 3 103131886 missense probably benign 0.00
R4916:Dennd2c UTSW 3 103131824 missense probably benign 0.00
R5560:Dennd2c UTSW 3 103161555 missense probably damaging 1.00
R6291:Dennd2c UTSW 3 103131609 nonsense probably null
R6395:Dennd2c UTSW 3 103149224 critical splice donor site probably null
R6567:Dennd2c UTSW 3 103132019 missense probably benign 0.02
R6681:Dennd2c UTSW 3 103131661 missense probably benign 0.01
R7106:Dennd2c UTSW 3 103131577 missense possibly damaging 0.82
R7162:Dennd2c UTSW 3 103156107 missense probably damaging 1.00
R7514:Dennd2c UTSW 3 103163062 missense probably benign 0.00
R7591:Dennd2c UTSW 3 103133345 missense possibly damaging 0.51
R7698:Dennd2c UTSW 3 103165043 missense possibly damaging 0.65
R8069:Dennd2c UTSW 3 103165130 missense probably damaging 1.00
R8086:Dennd2c UTSW 3 103133345 missense possibly damaging 0.51
R8247:Dennd2c UTSW 3 103152321 missense probably damaging 0.99
R8347:Dennd2c UTSW 3 103157709 missense probably damaging 0.99
Posted On2015-04-16