Incidental Mutation 'IGL01330:Mpped1'
ID74479
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpped1
Ensembl Gene ENSMUSG00000041708
Gene Namemetallophosphoesterase domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #IGL01330
Quality Score
Status
Chromosome15
Chromosomal Location83779467-83858494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 83800119 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 114 (I114N)
Ref Sequence ENSEMBL: ENSMUSP00000131333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046168] [ENSMUST00000109470] [ENSMUST00000123387] [ENSMUST00000163723] [ENSMUST00000172115] [ENSMUST00000172398]
Predicted Effect probably damaging
Transcript: ENSMUST00000046168
AA Change: I114N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041981
Gene: ENSMUSG00000041708
AA Change: I114N

DomainStartEndE-ValueType
Pfam:Metallophos 90 288 1e-13 PFAM
Pfam:Metallophos_2 91 314 8.3e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109470
AA Change: I114N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105096
Gene: ENSMUSG00000041708
AA Change: I114N

DomainStartEndE-ValueType
Pfam:Metallophos 90 288 1.9e-13 PFAM
Pfam:Metallophos_2 91 318 4.9e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000123387
AA Change: I114N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123230
Gene: ENSMUSG00000041708
AA Change: I114N

DomainStartEndE-ValueType
PDB:3RL3|A 33 137 2e-54 PDB
Predicted Effect unknown
Transcript: ENSMUST00000150489
AA Change: I110N
SMART Domains Protein: ENSMUSP00000128786
Gene: ENSMUSG00000041708
AA Change: I110N

DomainStartEndE-ValueType
Pfam:Metallophos 87 217 6.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000163723
SMART Domains Protein: ENSMUSP00000126242
Gene: ENSMUSG00000041708

DomainStartEndE-ValueType
Pfam:Metallophos 5 130 3e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000171560
AA Change: I30N
SMART Domains Protein: ENSMUSP00000125835
Gene: ENSMUSG00000041708
AA Change: I30N

DomainStartEndE-ValueType
Pfam:Metallophos 7 147 2.8e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172115
AA Change: I114N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132518
Gene: ENSMUSG00000041708
AA Change: I114N

DomainStartEndE-ValueType
PDB:3RL3|A 33 136 1e-52 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000172398
AA Change: I114N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131333
Gene: ENSMUSG00000041708
AA Change: I114N

DomainStartEndE-ValueType
PDB:3RL3|A 33 140 2e-47 PDB
SCOP:d4kbpa2 84 133 9e-3 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A G 19: 31,920,951 E245G possibly damaging Het
Acap2 T C 16: 31,154,677 I43V probably damaging Het
Acot11 T C 4: 106,771,484 T36A probably benign Het
Bsn A G 9: 108,110,913 probably benign Het
Capza2 T C 6: 17,654,171 probably null Het
Cerkl A G 2: 79,368,781 I155T possibly damaging Het
Dclre1b T C 3: 103,803,126 T490A probably benign Het
Efcab6 G A 15: 84,044,300 S31L probably benign Het
Faim T A 9: 98,992,535 M67K probably damaging Het
Frem2 T G 3: 53,655,241 Q615P possibly damaging Het
Fut9 A G 4: 25,619,791 V341A possibly damaging Het
Grhpr T C 4: 44,986,375 F142L probably benign Het
Kif14 T C 1: 136,476,374 V532A probably damaging Het
Klk1b9 T A 7: 43,978,443 L55* probably null Het
Kmt2e C A 5: 23,497,948 P1042Q possibly damaging Het
Mtap C A 4: 89,171,223 T148K probably damaging Het
Muc16 G A 9: 18,508,507 A8347V possibly damaging Het
Nhs A T X: 161,841,453 S967T probably damaging Het
Npas3 A G 12: 54,048,819 Y344C probably damaging Het
Olfr1431 T C 19: 12,210,040 V158A possibly damaging Het
Olfr635 A T 7: 103,980,142 probably benign Het
Olfr876 T A 9: 37,804,220 F103Y probably damaging Het
Osmr A G 15: 6,842,028 Y303H probably damaging Het
Pcdhb8 A T 18: 37,357,578 I770F probably benign Het
Pde4a C T 9: 21,192,438 probably benign Het
Prkacb T G 3: 146,751,511 N79T probably damaging Het
Psd3 A C 8: 67,697,178 Y1222D probably damaging Het
Rrbp1 T A 2: 143,968,618 E847D possibly damaging Het
Sbno1 A T 5: 124,391,979 D912E probably damaging Het
Sgsm3 T A 15: 81,010,852 probably benign Het
Shcbp1 T C 8: 4,736,372 T577A probably benign Het
Siglec1 A T 2: 131,083,536 V335D probably damaging Het
Siglec1 A T 2: 131,075,005 L1110* probably null Het
Slc4a11 A G 2: 130,687,682 I335T probably benign Het
Smchd1 A C 17: 71,436,788 S461A probably benign Het
Spata16 C T 3: 26,914,715 P415S probably damaging Het
Tdrd12 G A 7: 35,505,034 S217L possibly damaging Het
Tmem156 C T 5: 65,080,182 R45H probably benign Het
Vmn2r90 T C 17: 17,733,280 S569P probably benign Het
Vps13c T A 9: 67,964,108 V3220E probably damaging Het
Wdr59 T C 8: 111,481,933 N439S possibly damaging Het
Zfp568 A G 7: 30,022,277 M215V probably benign Het
Zgrf1 T A 3: 127,584,007 V967E probably damaging Het
Zkscan16 A G 4: 58,956,483 D255G possibly damaging Het
Other mutations in Mpped1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Mpped1 APN 15 83792213 missense possibly damaging 0.94
IGL02004:Mpped1 APN 15 83800156 missense probably damaging 1.00
R0336:Mpped1 UTSW 15 83836282 missense probably damaging 1.00
R1582:Mpped1 UTSW 15 83791990 unclassified probably benign
R1635:Mpped1 UTSW 15 83791990 unclassified probably benign
R1636:Mpped1 UTSW 15 83791990 unclassified probably benign
R1637:Mpped1 UTSW 15 83791990 unclassified probably benign
R1778:Mpped1 UTSW 15 83791990 unclassified probably benign
R3787:Mpped1 UTSW 15 83796583 intron probably benign
R4114:Mpped1 UTSW 15 83796709 intron probably benign
R4116:Mpped1 UTSW 15 83796709 intron probably benign
R4977:Mpped1 UTSW 15 83796706 intron probably benign
R4982:Mpped1 UTSW 15 83836327 missense probably damaging 1.00
R6352:Mpped1 UTSW 15 83836363 missense probably damaging 1.00
R6765:Mpped1 UTSW 15 83836383 missense probably damaging 1.00
Posted On2013-10-07