Incidental Mutation 'IGL02895:Dennd2c'
ID363382
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 #IGL02895
Quality Score
Status
Chromosome3
Chromosomal Location103102604-103169769 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103137203 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 367 (Y367H)
Ref Sequence ENSEMBL: ENSMUSP00000127187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172288] [ENSMUST00000173206]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166143
Predicted Effect possibly damaging
Transcript: ENSMUST00000172288
AA Change: Y367H

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379
AA Change: Y367H

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
SMART Domains Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,232,107 probably benign Het
Ahctf1 C T 1: 179,793,811 E130K probably damaging Het
Atf7ip C A 6: 136,560,688 S306R probably damaging Het
Cpd A G 11: 76,785,203 V1208A probably benign Het
Ctsl C T 13: 64,366,512 A195T probably damaging Het
Endod1 T A 9: 14,356,870 T440S probably benign Het
Gm12695 T C 4: 96,723,949 R526G probably damaging Het
Ighv1-39 T C 12: 114,914,682 T90A probably damaging Het
Kdm2a G A 19: 4,362,902 R19C probably damaging Het
Klra1 C T 6: 130,375,240 E180K possibly damaging Het
Odam A G 5: 87,885,864 Q21R probably benign Het
Olfr1205 A G 2: 88,831,642 Y175C probably damaging Het
Olfr145 G A 9: 37,897,982 V193I probably benign Het
Plk1 A G 7: 122,169,166 E504G possibly damaging Het
Rtl3 T C X: 106,839,544 I37M possibly damaging Het
Srebf2 A G 15: 82,147,467 E22G possibly damaging Het
Tmem74b A G 2: 151,706,391 S13G probably benign Het
Utp14b T C 1: 78,664,607 V74A possibly damaging Het
Znrf3 T C 11: 5,289,085 M93V 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
IGL02100:Dennd2c APN 3 103153675 missense probably damaging 0.98
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
convolution UTSW 3 103156107 missense probably damaging 1.00
Resolution UTSW 3 103133345 missense possibly damaging 0.51
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 On2015-12-18