Incidental Mutation 'IGL02004:Mpped1'
ID182220
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: 0.113) question?
Stock #IGL02004
Quality Score
Status
Chromosome15
Chromosomal Location83779467-83858494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 83800156 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 126 (S126R)
Ref Sequence ENSEMBL: ENSMUSP00000131333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046168] [ENSMUST00000109470] [ENSMUST00000123387] [ENSMUST00000163723] [ENSMUST00000172115] [ENSMUST00000172398]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046168
AA Change: S126R

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000041981
Gene: ENSMUSG00000041708
AA Change: S126R

DomainStartEndE-ValueType
Pfam:Metallophos 90 288 1e-13 PFAM
Pfam:Metallophos_2 91 314 8.3e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109470
AA Change: S126R

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105096
Gene: ENSMUSG00000041708
AA Change: S126R

DomainStartEndE-ValueType
Pfam:Metallophos 90 288 1.9e-13 PFAM
Pfam:Metallophos_2 91 318 4.9e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123387
AA Change: S126R

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123230
Gene: ENSMUSG00000041708
AA Change: S126R

DomainStartEndE-ValueType
PDB:3RL3|A 33 137 2e-54 PDB
Predicted Effect unknown
Transcript: ENSMUST00000150489
AA Change: S122R
SMART Domains Protein: ENSMUSP00000128786
Gene: ENSMUSG00000041708
AA Change: S122R

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: S42R
SMART Domains Protein: ENSMUSP00000125835
Gene: ENSMUSG00000041708
AA Change: S42R

DomainStartEndE-ValueType
Pfam:Metallophos 7 147 2.8e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172115
AA Change: S126R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132518
Gene: ENSMUSG00000041708
AA Change: S126R

DomainStartEndE-ValueType
PDB:3RL3|A 33 136 1e-52 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000172398
AA Change: S126R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131333
Gene: ENSMUSG00000041708
AA Change: S126R

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G T 11: 72,191,597 A301E possibly damaging Het
C4b A T 17: 34,739,010 probably benign Het
Cep85 A G 4: 134,167,387 V36A probably damaging Het
Cnot10 A T 9: 114,622,930 F259L probably damaging Het
Crim1 T C 17: 78,372,575 probably benign Het
Crispld1 G A 1: 17,747,520 A216T probably damaging Het
Cyp8b1 T C 9: 121,914,992 I425V probably benign Het
Fat2 A T 11: 55,282,840 V2349D probably damaging Het
Fer G T 17: 63,924,179 probably null Het
Galnt3 T C 2: 66,095,926 T313A probably damaging Het
Gm4450 T A 3: 98,456,419 R37W probably damaging Het
Igkv10-94 A T 6: 68,704,944 L12* probably null Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Kit T A 5: 75,621,014 S368T probably benign Het
Mark1 G A 1: 184,912,589 S390L possibly damaging Het
Myh15 A C 16: 49,110,529 probably benign Het
Nat1 G A 8: 67,491,226 E85K probably benign Het
Olfr1500 T C 19: 13,828,063 D111G possibly damaging Het
Pde3b A T 7: 114,519,617 M664L possibly damaging Het
Phrf1 A G 7: 141,260,333 D1147G probably benign Het
Pth1r G T 9: 110,742,308 probably benign Het
Shank3 C T 15: 89,503,299 probably benign Het
Slc39a7 A C 17: 34,031,121 probably benign Het
Slc6a1 A G 6: 114,314,325 T520A probably benign Het
St3gal2 C A 8: 110,970,172 A317E probably damaging Het
St3gal3 C A 4: 117,960,039 L139F possibly damaging Het
Sval3 T A 6: 41,972,842 probably benign Het
Syvn1 G A 19: 6,052,407 A502T probably benign Het
Tm4sf1 T C 3: 57,293,078 I68V possibly damaging Het
Tnrc6a T A 7: 123,181,366 N1326K possibly damaging Het
Tvp23b G A 11: 62,892,000 C174Y probably damaging Het
Zfp750 T C 11: 121,512,149 D591G probably benign Het
Other mutations in Mpped1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:Mpped1 APN 15 83800119 missense probably damaging 1.00
IGL01402:Mpped1 APN 15 83792213 missense possibly damaging 0.94
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
R7499:Mpped1 UTSW 15 83800050 missense probably damaging 1.00
R8056:Mpped1 UTSW 15 83836462 missense possibly damaging 0.63
R8395:Mpped1 UTSW 15 83800056 missense probably damaging 1.00
R8956:Mpped1 UTSW 15 83856268 missense probably damaging 1.00
R8959:Mpped1 UTSW 15 83792141 missense probably damaging 0.99
Posted On2014-05-07