Incidental Mutation 'IGL02732:Mdp1'
ID 305491
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mdp1
Ensembl Gene ENSMUSG00000002329
Gene Name magnesium-dependent phosphatase 1
Synonyms 1810034K20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02732
Quality Score
Status
Chromosome 14
Chromosomal Location 55895346-55897908 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55896678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 128 (I128V)
Ref Sequence ENSEMBL: ENSMUSP00000002400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002400] [ENSMUST00000010520] [ENSMUST00000163750]
AlphaFold Q9D967
PDB Structure Magnesium Dependent Phosphatase 1 (MDP-1) [X-RAY DIFFRACTION]
X-ray Crystal Structure of the Hypothetical Phosphotyrosine Phosphatase MDP-1 of the Haloacid Dehalogenase Superfamily [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000002400
AA Change: I128V

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000002400
Gene: ENSMUSG00000002329
AA Change: I128V

DomainStartEndE-ValueType
Pfam:Acid_PPase 3 160 3e-62 PFAM
Pfam:HAD_2 30 141 2.9e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000010520
SMART Domains Protein: ENSMUSP00000010520
Gene: ENSMUSG00000010376

DomainStartEndE-ValueType
UBQ 1 72 3.94e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163750
SMART Domains Protein: ENSMUSP00000130492
Gene: ENSMUSG00000010376

DomainStartEndE-ValueType
UBQ 1 72 3.94e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227157
Predicted Effect probably benign
Transcript: ENSMUST00000227250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227568
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228414
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228093
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoo-ps C A 13: 107,551,123 (GRCm39) noncoding transcript Het
Ash1l T A 3: 88,873,535 (GRCm39) V106E probably damaging Het
Baz2a A G 10: 127,961,044 (GRCm39) T1618A possibly damaging Het
Brca1 A G 11: 101,383,045 (GRCm39) S1732P probably benign Het
Cdh1 T A 8: 107,392,955 (GRCm39) I813N probably damaging Het
Cdk5rap2 G A 4: 70,184,902 (GRCm39) R1183* probably null Het
Cep170 C T 1: 176,564,440 (GRCm39) E1479K probably damaging Het
Cep68 A T 11: 20,186,109 (GRCm39) probably benign Het
Cog7 C T 7: 121,522,590 (GRCm39) V750I probably benign Het
Cplane1 A G 15: 8,209,375 (GRCm39) T271A probably benign Het
Cyb5d1 A C 11: 69,284,635 (GRCm39) probably null Het
Dlgap4 A G 2: 156,591,243 (GRCm39) K120E probably benign Het
Dmtf1 T C 5: 9,186,098 (GRCm39) I75V possibly damaging Het
Fnip2 T C 3: 79,373,004 (GRCm39) T995A probably damaging Het
Hecw2 G A 1: 53,965,847 (GRCm39) probably benign Het
Il17rd T A 14: 26,809,376 (GRCm39) F111I probably damaging Het
Itgb8 A C 12: 119,127,088 (GRCm39) M722R probably benign Het
Maip1 A G 1: 57,449,114 (GRCm39) D165G probably damaging Het
Mcm6 A T 1: 128,287,227 (GRCm39) C26S probably benign Het
Myof A T 19: 37,966,164 (GRCm39) F385L possibly damaging Het
Nebl C T 2: 17,457,295 (GRCm39) probably benign Het
Nusap1 A G 2: 119,466,061 (GRCm39) E227G probably damaging Het
Or4b13 A G 2: 90,082,652 (GRCm39) S227P probably damaging Het
Or51m1 T G 7: 103,578,336 (GRCm39) M102R probably damaging Het
Or52e3 A C 7: 102,869,447 (GRCm39) N174T probably benign Het
Pamr1 A T 2: 102,472,486 (GRCm39) H595L probably benign Het
Pate5 C T 9: 35,750,345 (GRCm39) G109D probably damaging Het
Pdgfc G A 3: 80,944,864 (GRCm39) probably benign Het
Pierce1 T C 2: 28,355,192 (GRCm39) N91S probably damaging Het
Ptpn22 A T 3: 103,793,349 (GRCm39) E500V probably damaging Het
Ptprg G T 14: 12,225,617 (GRCm38) probably null Het
R3hdm2 T C 10: 127,319,929 (GRCm39) F513L probably benign Het
Ramac T C 7: 81,417,473 (GRCm39) probably null Het
Rhobtb3 C A 13: 76,059,056 (GRCm39) L247F probably damaging Het
Scfd1 T C 12: 51,469,756 (GRCm39) S434P probably benign Het
Serpinb3d T A 1: 107,010,526 (GRCm39) probably null Het
Sin3b T C 8: 73,460,081 (GRCm39) F223L possibly damaging Het
Slc9c1 T C 16: 45,370,548 (GRCm39) V263A possibly damaging Het
Sntb1 A G 15: 55,655,596 (GRCm39) S207P possibly damaging Het
Sqor A T 2: 122,641,682 (GRCm39) T1S possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssh2 A G 11: 77,328,602 (GRCm39) probably null Het
Tasor2 A G 13: 3,623,626 (GRCm39) V2108A probably benign Het
Tmod2 A G 9: 75,493,454 (GRCm39) V167A possibly damaging Het
Trak2 G A 1: 58,949,222 (GRCm39) T526M probably benign Het
Trdn G A 10: 33,344,195 (GRCm39) probably null Het
Trim5 T A 7: 103,927,672 (GRCm39) E156V probably benign Het
Twf1 A G 15: 94,478,890 (GRCm39) S273P probably damaging Het
Xylt1 T C 7: 117,191,164 (GRCm39) V320A possibly damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Mdp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03194:Mdp1 APN 14 55,896,444 (GRCm39) missense probably damaging 0.98
R0373:Mdp1 UTSW 14 55,896,832 (GRCm39) missense probably damaging 1.00
R0685:Mdp1 UTSW 14 55,896,726 (GRCm39) nonsense probably null
R5007:Mdp1 UTSW 14 55,896,683 (GRCm39) missense probably damaging 1.00
R5008:Mdp1 UTSW 14 55,896,683 (GRCm39) missense probably damaging 1.00
R5009:Mdp1 UTSW 14 55,896,683 (GRCm39) missense probably damaging 1.00
R5371:Mdp1 UTSW 14 55,897,806 (GRCm39) missense probably damaging 1.00
R5654:Mdp1 UTSW 14 55,896,465 (GRCm39) missense probably damaging 1.00
R6489:Mdp1 UTSW 14 55,897,848 (GRCm39) unclassified probably benign
R7267:Mdp1 UTSW 14 55,897,544 (GRCm39) missense probably damaging 0.99
R8040:Mdp1 UTSW 14 55,897,523 (GRCm39) missense probably benign
R9642:Mdp1 UTSW 14 55,896,933 (GRCm39) missense probably damaging 1.00
R9696:Mdp1 UTSW 14 55,896,704 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16