Incidental Mutation 'R6765:Mpped1'
ID531886
Institutional Source Beutler Lab
Gene Symbol Mpped1
Ensembl Gene ENSMUSG00000041708
Gene Namemetallophosphoesterase domain containing 1
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.175) question?
Stock #R6765 (G1)
Quality Score225.009
Status Validated
Chromosome15
Chromosomal Location83779467-83858494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 83836383 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 15 (V15M)
Ref Sequence ENSEMBL: ENSMUSP00000126242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046168] [ENSMUST00000109470] [ENSMUST00000123387] [ENSMUST00000125739] [ENSMUST00000148868] [ENSMUST00000163723] [ENSMUST00000172115] [ENSMUST00000172398]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046168
AA Change: V173M

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041981
Gene: ENSMUSG00000041708
AA Change: V173M

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: V173M

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105096
Gene: ENSMUSG00000041708
AA Change: V173M

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
SMART Domains Protein: ENSMUSP00000123230
Gene: ENSMUSG00000041708

DomainStartEndE-ValueType
PDB:3RL3|A 33 137 2e-54 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000125739
AA Change: V15M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131463
Gene: ENSMUSG00000041708
AA Change: V15M

DomainStartEndE-ValueType
Pfam:Metallophos 5 130 2.2e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000148868
AA Change: V90M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131679
Gene: ENSMUSG00000041708
AA Change: V90M

DomainStartEndE-ValueType
Pfam:Metallophos 49 203 4.6e-9 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000150489
AA Change: V169M
SMART Domains Protein: ENSMUSP00000128786
Gene: ENSMUSG00000041708
AA Change: V169M

DomainStartEndE-ValueType
Pfam:Metallophos 87 217 6.7e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163723
AA Change: V15M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126242
Gene: ENSMUSG00000041708
AA Change: V15M

DomainStartEndE-ValueType
Pfam:Metallophos 5 130 3e-6 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000171560
AA Change: V89M
SMART Domains Protein: ENSMUSP00000125835
Gene: ENSMUSG00000041708
AA Change: V89M

DomainStartEndE-ValueType
Pfam:Metallophos 7 147 2.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172115
SMART Domains Protein: ENSMUSP00000132518
Gene: ENSMUSG00000041708

DomainStartEndE-ValueType
PDB:3RL3|A 33 136 1e-52 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000172398
SMART Domains Protein: ENSMUSP00000131333
Gene: ENSMUSG00000041708

DomainStartEndE-ValueType
PDB:3RL3|A 33 140 2e-47 PDB
SCOP:d4kbpa2 84 133 9e-3 SMART
Meta Mutation Damage Score 0.11 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810403A07Rik G T 3: 88,686,429 G42W probably damaging Het
3110002H16Rik A G 18: 12,176,146 N92D possibly damaging Het
Adamtsl3 C A 7: 82,567,024 D878E possibly damaging Het
Adipor2 A C 6: 119,357,242 F336V possibly damaging Het
Akt3 A T 1: 177,050,190 Y337* probably null Het
Aoc1 A G 6: 48,905,937 N249S probably benign Het
Ap1b1 T A 11: 5,019,427 L261Q probably damaging Het
Ap3b1 T A 13: 94,462,509 D530E probably benign Het
Arid4b T A 13: 14,187,315 M788K possibly damaging Het
Atp2c2 A T 8: 119,753,017 I762F probably damaging Het
Bhlhe23 C A 2: 180,776,343 R134L probably damaging Het
Cacna2d3 T C 14: 29,055,977 D687G probably damaging Het
Ccdc136 G A 6: 29,405,941 M95I probably benign Het
Cdk12 T A 11: 98,224,529 I832N unknown Het
Clcn2 A C 16: 20,707,668 probably null Het
Csrnp2 C T 15: 100,482,693 R239Q probably damaging Het
Dhrs13 T A 11: 78,037,139 D270E probably benign Het
Dlgap2 G A 8: 14,743,284 G426D probably benign Het
Dnah8 G A 17: 30,748,568 D2585N probably benign Het
Fam120a A G 13: 48,891,964 Y799H probably damaging Het
Fam160b1 A G 19: 57,378,745 D240G probably benign Het
Farp1 G A 14: 121,222,654 V112I probably benign Het
Fsip2 A G 2: 82,986,432 I4170V probably benign Het
Gm12185 A G 11: 48,915,704 V220A probably benign Het
Gpr37l1 T C 1: 135,167,122 Y128C probably damaging Het
Gsto2 A T 19: 47,871,788 R7* probably null Het
Itih3 C T 14: 30,909,473 G822D probably benign Het
Kcnu1 A T 8: 25,913,645 D728V probably damaging Het
Lnpep G A 17: 17,530,496 T976I probably damaging Het
Map1b A C 13: 99,425,941 H2420Q unknown Het
Mc1r A G 8: 123,407,696 K63E probably damaging Het
Ncor1 T C 11: 62,373,446 T103A probably benign Het
Nhsl1 A T 10: 18,531,314 T1399S probably benign Het
Nlrc5 C T 8: 94,490,368 T995M probably benign Het
Nrbp1 G A 5: 31,245,846 probably null Het
Olfr1065 T C 2: 86,445,236 T249A probably benign Het
Olfr1221 G T 2: 89,112,296 T72N possibly damaging Het
Olfr979 A C 9: 40,001,197 F10C probably damaging Het
Pcdhb13 T C 18: 37,443,610 L347P probably damaging Het
Pkhd1 T C 1: 20,058,339 T4047A probably benign Het
Prrt2 T A 7: 127,019,597 D232V probably damaging Het
Psmd5 A C 2: 34,856,533 M344R probably benign Het
Pwp1 G A 10: 85,884,533 E345K probably damaging Het
Qsox1 A G 1: 155,791,105 Y213H probably benign Het
Sclt1 T C 3: 41,730,902 R39G unknown Het
Syne1 A T 10: 5,143,285 probably null Het
Tmem163 G T 1: 127,551,341 A147E probably damaging Het
Trav13n-4 A T 14: 53,364,100 M109L probably benign Het
Trp53bp1 T C 2: 121,209,309 E1283G probably damaging Het
Trpm6 T A 19: 18,877,765 D1929E probably damaging Het
Upb1 A T 10: 75,438,144 D335V probably damaging Het
Vps26b T C 9: 27,012,808 E213G probably damaging Het
Vwc2 C T 11: 11,154,215 T249I probably benign Het
Wwc2 A G 8: 47,900,791 Y103H possibly damaging Het
Zan A G 5: 137,393,147 C4692R unknown Het
Zfp106 T C 2: 120,539,454 E29G probably damaging Het
Zfp551 G A 7: 12,416,840 A214V possibly damaging Het
Zfp981 T A 4: 146,537,906 H429Q 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
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
Predicted Primers PCR Primer
(F):5'- ACTCCAGTGATTGTCCCCAG -3'
(R):5'- AATGCCCCTGTAGGAGACTG -3'

Sequencing Primer
(F):5'- CAGTGATTGTCCCCAGCTATC -3'
(R):5'- CTGTAGGAGACTGGAGTTGCCAC -3'
Posted On2018-08-29