Incidental Mutation 'IGL02072:Mamdc4'
ID185874
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mamdc4
Ensembl Gene ENSMUSG00000026941
Gene NameMAM domain containing 4
SynonymsLOC381352
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL02072
Quality Score
Status
Chromosome2
Chromosomal Location25563115-25574845 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25568339 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 353 (L353P)
Ref Sequence ENSEMBL: ENSMUSP00000092735 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095117] [ENSMUST00000114223]
Predicted Effect probably damaging
Transcript: ENSMUST00000095117
AA Change: L353P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092735
Gene: ENSMUSG00000026941
AA Change: L353P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
LDLa 32 58 7.33e-1 SMART
MAM 66 227 3.56e-52 SMART
LDLa 233 272 3.5e-9 SMART
MAM 254 430 3.87e-53 SMART
LDLa 461 497 2.63e-4 SMART
MAM 493 653 5.33e-5 SMART
MAM 660 819 3.68e-68 SMART
MAM 820 979 1.07e-28 SMART
MAM 980 1148 2.07e-62 SMART
transmembrane domain 1165 1187 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114223
AA Change: L349P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109861
Gene: ENSMUSG00000026941
AA Change: L349P

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
LDLa 28 54 7.33e-1 SMART
MAM 62 223 3.56e-52 SMART
LDLa 229 268 3.5e-9 SMART
MAM 250 426 3.87e-53 SMART
LDLa 457 493 2.63e-4 SMART
MAM 489 649 5.33e-5 SMART
MAM 656 815 3.68e-68 SMART
MAM 816 975 1.07e-28 SMART
MAM 976 1144 2.07e-62 SMART
transmembrane domain 1161 1183 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142811
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152124
Predicted Effect unknown
Transcript: ENSMUST00000152237
AA Change: L329P
SMART Domains Protein: ENSMUSP00000119789
Gene: ENSMUSG00000026941
AA Change: L329P

DomainStartEndE-ValueType
LDLa 9 35 7.33e-1 SMART
MAM 43 204 3.56e-52 SMART
LDLa 210 249 3.5e-9 SMART
MAM 231 407 3.87e-53 SMART
LDLa 438 474 2.63e-4 SMART
MAM 558 717 2.27e-68 SMART
MAM 718 877 1.07e-28 SMART
MAM 878 1046 2.07e-62 SMART
transmembrane domain 1063 1085 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595D18Rik T A 12: 111,161,820 probably benign Het
Atm A G 9: 53,459,796 S2251P probably benign Het
C1qtnf6 T A 15: 78,527,351 K42* probably null Het
Ddx20 A T 3: 105,680,627 V379E probably damaging Het
Dnah7a A T 1: 53,605,827 W1017R probably damaging Het
Eif2s1 T A 12: 78,880,014 N179K probably benign Het
Exosc9 A T 3: 36,554,672 N140I probably damaging Het
Fam84b A G 15: 60,823,453 L148P probably damaging Het
Fancg A C 4: 43,007,062 H238Q probably benign Het
Fyttd1 A G 16: 32,900,661 I110V probably damaging Het
G6pd2 A T 5: 61,809,410 D176V probably damaging Het
Gm5114 A G 7: 39,411,402 S8P probably benign Het
Hoxa1 T A 6: 52,156,898 M283L probably damaging Het
Hspbp1 A T 7: 4,677,721 L252H probably damaging Het
Itgb2l A T 16: 96,430,608 D319E probably benign Het
Kdm6a A G X: 18,254,289 T737A probably benign Het
Kmt2c A T 5: 25,405,432 D225E possibly damaging Het
Lamb2 T A 9: 108,481,908 Y274* probably null Het
Mid2 T A X: 140,736,452 H258Q probably damaging Het
Msh3 A C 13: 92,300,295 N502K probably damaging Het
Nalcn T C 14: 123,323,358 H769R probably benign Het
Nfx1 A G 4: 41,016,119 I894V probably benign Het
Notch3 G A 17: 32,147,074 Q1018* probably null Het
Oas1e A G 5: 120,791,781 probably null Het
Olfr1316 A T 2: 112,130,081 H243Q probably damaging Het
Olfr854 A G 9: 19,566,949 I145T probably benign Het
Plekha4 T A 7: 45,538,298 F265I probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Slc9a3 T C 13: 74,165,859 I762T probably benign Het
Spag1 C A 15: 36,190,512 P158Q probably damaging Het
Spout1 G A 2: 30,177,926 Q26* probably null Het
Sulf1 T C 1: 12,848,208 Y50H probably damaging Het
Sytl5 C T X: 9,963,586 probably benign Het
Tcof1 T C 18: 60,831,565 E663G possibly damaging Het
Tmc3 A G 7: 83,615,940 I681V probably benign Het
Tnfsf4 G T 1: 161,417,289 C183F probably damaging Het
Ubqln3 A T 7: 104,141,299 L528Q possibly damaging Het
Upf3a A C 8: 13,798,368 Q388P probably damaging Het
Vrk1 T C 12: 106,042,885 V70A probably benign Het
Other mutations in Mamdc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01304:Mamdc4 APN 2 25563576 missense possibly damaging 0.53
IGL01994:Mamdc4 APN 2 25568534 missense possibly damaging 0.64
IGL02193:Mamdc4 APN 2 25564446 missense probably benign 0.02
IGL02673:Mamdc4 APN 2 25570054 missense probably benign
IGL03048:Mamdc4 UTSW 2 25569072 missense possibly damaging 0.67
R0135:Mamdc4 UTSW 2 25566920 missense possibly damaging 0.71
R0481:Mamdc4 UTSW 2 25571216 start codon destroyed probably null 0.08
R0490:Mamdc4 UTSW 2 25563581 missense probably benign 0.01
R0609:Mamdc4 UTSW 2 25564193 missense probably benign 0.30
R0729:Mamdc4 UTSW 2 25570036 missense probably damaging 0.98
R1365:Mamdc4 UTSW 2 25566024 missense probably damaging 1.00
R1533:Mamdc4 UTSW 2 25569747 missense possibly damaging 0.71
R1671:Mamdc4 UTSW 2 25568223 nonsense probably null
R1789:Mamdc4 UTSW 2 25567622 missense possibly damaging 0.59
R2002:Mamdc4 UTSW 2 25567232 missense probably damaging 1.00
R2013:Mamdc4 UTSW 2 25563572 missense probably damaging 0.98
R2014:Mamdc4 UTSW 2 25563572 missense probably damaging 0.98
R2056:Mamdc4 UTSW 2 25564168 missense probably benign 0.18
R2109:Mamdc4 UTSW 2 25569390 missense probably damaging 1.00
R2128:Mamdc4 UTSW 2 25569258 missense probably damaging 1.00
R2185:Mamdc4 UTSW 2 25569692 critical splice donor site probably null
R2473:Mamdc4 UTSW 2 25566332 missense probably damaging 0.99
R2496:Mamdc4 UTSW 2 25565902 missense probably damaging 1.00
R3818:Mamdc4 UTSW 2 25565773 missense probably benign
R4591:Mamdc4 UTSW 2 25564597 missense possibly damaging 0.87
R4829:Mamdc4 UTSW 2 25565356 missense possibly damaging 0.85
R4898:Mamdc4 UTSW 2 25570023 missense probably damaging 0.98
R5209:Mamdc4 UTSW 2 25566923 missense probably damaging 0.97
R5268:Mamdc4 UTSW 2 25564690 missense possibly damaging 0.95
R5490:Mamdc4 UTSW 2 25565878 missense probably damaging 1.00
R6152:Mamdc4 UTSW 2 25567439 missense probably damaging 1.00
R6234:Mamdc4 UTSW 2 25570080 missense probably damaging 1.00
R6681:Mamdc4 UTSW 2 25567744 missense probably damaging 1.00
R6774:Mamdc4 UTSW 2 25566936 missense probably benign 0.06
R7178:Mamdc4 UTSW 2 25568965 missense probably benign 0.04
R7225:Mamdc4 UTSW 2 25565546 missense possibly damaging 0.50
R7451:Mamdc4 UTSW 2 25564461 missense possibly damaging 0.80
R7520:Mamdc4 UTSW 2 25565348 missense possibly damaging 0.88
X0022:Mamdc4 UTSW 2 25570192 missense probably damaging 1.00
X0025:Mamdc4 UTSW 2 25564686 missense possibly damaging 0.89
Posted On2014-05-07