Incidental Mutation 'IGL02632:Mamdc2'
ID301346
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: 0.118) question?
Stock #IGL02632
Quality Score
Status
Chromosome19
Chromosomal Location23302609-23448322 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 23330976 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 521 (E521K)
Ref Sequence ENSEMBL: ENSMUSP00000045432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036069]
Predicted Effect probably benign
Transcript: ENSMUST00000036069
AA Change: E521K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000045432
Gene: ENSMUSG00000033207
AA Change: E521K

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T C 8: 40,755,200 V501A possibly damaging Het
Alpl T G 4: 137,753,906 N145T probably damaging Het
Aqp5 T A 15: 99,593,335 probably benign Het
Armc4 A G 18: 7,214,727 probably benign Het
Atp1a2 T A 1: 172,280,614 D640V possibly damaging Het
Atp5o T C 16: 91,928,942 E49G probably benign Het
Card14 A G 11: 119,338,904 D747G probably benign Het
Cpz A T 5: 35,511,811 D325E possibly damaging Het
Crim1 T C 17: 78,372,674 I948T probably benign Het
Dpysl3 A T 18: 43,393,025 S2T possibly damaging Het
Fat4 T C 3: 39,002,764 V4203A probably benign Het
Gapvd1 G A 2: 34,684,174 probably benign Het
Gm7173 A T X: 79,496,673 L553H probably damaging Het
Gpatch2 A G 1: 187,225,981 R155G probably damaging Het
Grpr A T X: 163,515,094 V318E probably damaging Het
Hipk1 T C 3: 103,760,545 T569A probably benign Het
Il3ra G A 14: 14,350,807 probably null Het
Llgl2 A G 11: 115,844,872 H98R probably damaging Het
Loxhd1 A G 18: 77,405,932 D663G probably damaging Het
Lrrc71 T C 3: 87,743,340 N205S probably damaging Het
Mapre2 A G 18: 23,858,160 M162V probably benign Het
Mettl22 T C 16: 8,484,253 probably benign Het
Mib2 T C 4: 155,655,579 D739G probably damaging Het
Mroh2b T C 15: 4,931,101 F772S probably damaging Het
Mtss1 C T 15: 58,944,015 M565I probably damaging Het
Myt1l T G 12: 29,914,293 S1077A unknown Het
Nalcn T C 14: 123,317,853 T873A probably benign Het
Nwd1 T A 8: 72,667,454 H448Q possibly damaging Het
Olfr1052 T C 2: 86,298,560 V248A probably damaging Het
Olfr114 T C 17: 37,590,341 E4G probably benign Het
Olfr631 A G 7: 103,929,707 I295V possibly damaging Het
Palld C T 8: 61,515,245 E1096K probably damaging Het
Pdcd2 A G 17: 15,521,792 V292A probably damaging Het
Pde2a A G 7: 101,504,656 Y477C probably damaging Het
Pramef25 A G 4: 143,949,937 I199T possibly damaging Het
Rcbtb1 T C 14: 59,224,682 L254P probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rsl1 A C 13: 67,182,163 H225P probably damaging Het
Sec14l2 T C 11: 4,111,222 I80V probably benign Het
Sema6a G T 18: 47,290,155 D261E probably damaging Het
Serpinb9b T A 13: 33,039,823 S333T probably benign Het
Slc24a4 T C 12: 102,234,682 V277A probably benign Het
Snap91 T A 9: 86,839,522 H88L possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmprss15 T A 16: 78,985,902 N758I probably damaging Het
Ube3b C T 5: 114,398,841 A300V probably benign Het
Vmn2r82 G A 10: 79,356,708 V40I probably benign Het
Vsig4 G T X: 96,247,772 Q265K probably benign Het
Wdr91 T C 6: 34,889,042 D525G probably damaging 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
IGL02832:Mamdc2 APN 19 23303851 missense probably damaging 0.99
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
Posted On2015-04-16