Incidental Mutation 'IGL02832:Mamdc2'
ID361464
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mamdc2
Ensembl Gene ENSMUSG00000033207
Gene NameMAM domain containing 2
Synonyms1200015L10Rik, mamcan
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL02832
Quality Score
Status
Chromosome19
Chromosomal Location23302609-23448322 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 23303851 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 653 (A653T)
Ref Sequence ENSEMBL: ENSMUSP00000045432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036069]
Predicted Effect probably damaging
Transcript: ENSMUST00000036069
AA Change: A653T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045432
Gene: ENSMUSG00000033207
AA Change: A653T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
MAM 21 169 3.15e-12 SMART
MAM 170 329 9.26e-42 SMART
MAM 337 498 1.07e-32 SMART
MAM 504 666 3.55e-61 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 G A 6: 92,807,175 T985M probably damaging Het
Alpk1 A G 3: 127,679,943 S804P possibly damaging Het
Ap3b1 A G 13: 94,528,327 I925V unknown Het
Cep135 T A 5: 76,640,949 S1130T probably damaging Het
Cers3 A T 7: 66,781,825 M183L probably benign Het
Col5a1 A G 2: 27,952,340 E409G unknown Het
Cyp4a32 G T 4: 115,614,621 V410F probably damaging Het
Ddx1 G A 12: 13,227,317 Q528* probably null Het
Dio2 G A 12: 90,729,404 probably benign Het
Dnah9 G T 11: 66,040,346 A2008E probably damaging Het
Dnajc2 A G 5: 21,760,410 V457A probably benign Het
Dytn T C 1: 63,643,373 T372A probably benign Het
Fam135a T C 1: 24,028,633 I152V probably benign Het
Fmnl2 C T 2: 52,858,249 A36V possibly damaging Het
Galnt7 G A 8: 57,552,497 T234I probably damaging Het
Gba A C 3: 89,203,502 I6L probably benign Het
Gja10 A G 4: 32,602,147 V79A probably damaging Het
Gpd2 T A 2: 57,338,979 V265E probably damaging Het
Gpld1 T C 13: 24,952,878 Y60H probably damaging Het
Heatr9 A G 11: 83,518,846 probably benign Het
Hist3h2ba A G 11: 58,949,043 K35R probably benign Het
Krt75 T A 15: 101,568,073 D419V probably benign Het
Lrig3 A T 10: 126,007,002 I599F probably benign Het
Lrp4 A G 2: 91,511,580 D1846G probably damaging Het
Myo7a A T 7: 98,091,020 probably null Het
Notch2 A G 3: 98,137,373 D1537G probably benign Het
Olfr370 G A 8: 83,541,471 C109Y probably damaging Het
Olfr559 G T 7: 102,723,651 H280N probably benign Het
Olfr608 A T 7: 103,470,698 I220L probably benign Het
Papss1 A C 3: 131,582,519 D84A probably damaging Het
Pcdhb16 T A 18: 37,478,474 D162E probably damaging Het
Rab11fip1 C T 8: 27,152,812 R653Q possibly damaging Het
Rap1gap2 A T 11: 74,412,455 probably benign Het
Rasal2 T C 1: 157,157,207 D990G probably damaging Het
Rnf32 T C 5: 29,205,703 probably null Het
Rp1 T C 1: 4,349,713 D392G probably benign Het
Scn9a T C 2: 66,568,029 D79G probably damaging Het
Selenon A T 4: 134,540,908 V438D probably damaging Het
Slc47a1 G A 11: 61,363,413 H158Y probably benign Het
Slc5a12 A T 2: 110,640,815 E463D probably benign Het
Taf2 C T 15: 55,016,563 V1126M probably benign Het
Tas2r143 G T 6: 42,400,325 V30L possibly damaging Het
Tcea3 G A 4: 136,268,113 V256M probably damaging Het
Thy1 A G 9: 44,046,814 T80A probably benign Het
Tmem9 A G 1: 136,019,731 N47S probably damaging Het
Tmprss11g T C 5: 86,497,269 Q101R probably benign Het
Trim66 C T 7: 109,460,497 C792Y probably damaging Het
Tstd2 A T 4: 46,124,949 M226K probably damaging Het
Utrn G T 10: 12,738,193 T378K possibly damaging Het
Vmn2r23 A G 6: 123,704,396 I88V probably benign Het
Other mutations in Mamdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Mamdc2 APN 19 23378774 nonsense probably null
IGL00588:Mamdc2 APN 19 23353316 missense possibly damaging 0.89
IGL01105:Mamdc2 APN 19 23331002 missense probably benign 0.36
IGL02223:Mamdc2 APN 19 23359143 splice site probably benign
IGL02511:Mamdc2 APN 19 23378731 missense probably benign 0.00
IGL02632:Mamdc2 APN 19 23330976 missense probably benign 0.03
R0071:Mamdc2 UTSW 19 23303630 nonsense probably null
R0121:Mamdc2 UTSW 19 23310859 missense probably benign 0.01
R0732:Mamdc2 UTSW 19 23378869 missense probably damaging 0.98
R1023:Mamdc2 UTSW 19 23310907 missense probably damaging 1.00
R1860:Mamdc2 UTSW 19 23359153 missense probably damaging 0.98
R1861:Mamdc2 UTSW 19 23359153 missense probably damaging 0.98
R1996:Mamdc2 UTSW 19 23363925 nonsense probably null
R2012:Mamdc2 UTSW 19 23310851 missense probably benign 0.00
R2016:Mamdc2 UTSW 19 23334029 missense probably damaging 0.98
R2266:Mamdc2 UTSW 19 23303903 splice site probably benign
R2267:Mamdc2 UTSW 19 23303903 splice site probably benign
R2269:Mamdc2 UTSW 19 23303903 splice site probably benign
R3085:Mamdc2 UTSW 19 23310932 missense possibly damaging 0.80
R4235:Mamdc2 UTSW 19 23374017 missense possibly damaging 0.94
R4672:Mamdc2 UTSW 19 23350784 missense probably damaging 1.00
R5074:Mamdc2 UTSW 19 23378796 missense probably benign 0.01
R5084:Mamdc2 UTSW 19 23359152 missense possibly damaging 0.95
R5521:Mamdc2 UTSW 19 23310938 missense probably damaging 1.00
R6119:Mamdc2 UTSW 19 23353315 missense probably damaging 1.00
R6334:Mamdc2 UTSW 19 23363906 missense probably damaging 1.00
R6557:Mamdc2 UTSW 19 23310845 missense possibly damaging 0.80
R6676:Mamdc2 UTSW 19 23303633 missense probably damaging 1.00
R7218:Mamdc2 UTSW 19 23447610 missense probably benign 0.00
R7616:Mamdc2 UTSW 19 23350804 missense probably damaging 1.00
R7627:Mamdc2 UTSW 19 23310991 missense probably damaging 0.99
R8101:Mamdc2 UTSW 19 23334029 missense probably damaging 0.98
Z1176:Mamdc2 UTSW 19 23334057 missense possibly damaging 0.69
Posted On2015-12-18