Incidental Mutation 'R0552:Mppe1'
ID45264
Institutional Source Beutler Lab
Gene Symbol Mppe1
Ensembl Gene ENSMUSG00000062526
Gene Namemetallophosphoesterase 1
Synonyms
MMRRC Submission 038744-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #R0552 (G1)
Quality Score162
Status Not validated
Chromosome18
Chromosomal Location67225530-67245830 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 67237348 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000072808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073054] [ENSMUST00000073054]
Predicted Effect probably null
Transcript: ENSMUST00000073054
SMART Domains Protein: ENSMUSP00000072808
Gene: ENSMUSG00000062526

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Metallophos 68 308 3.3e-13 PFAM
transmembrane domain 358 380 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000073054
SMART Domains Protein: ENSMUSP00000072808
Gene: ENSMUSG00000062526

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
Pfam:Metallophos 68 308 3.3e-13 PFAM
transmembrane domain 358 380 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam9 A T 8: 24,963,010 N760K probably benign Het
Akr1b10 A G 6: 34,392,985 T216A possibly damaging Het
Arsj A G 3: 126,439,344 R580G probably benign Het
C9 A T 15: 6,445,437 I26F probably damaging Het
Cacna2d1 A G 5: 16,328,043 E578G probably damaging Het
Clca4b C T 3: 144,916,775 V510I probably benign Het
Dab2 C T 15: 6,435,414 T561I possibly damaging Het
E430018J23Rik A T 7: 127,392,332 I161N possibly damaging Het
Gm4737 T A 16: 46,154,592 T141S probably benign Het
Golga5 A T 12: 102,484,493 E12D possibly damaging Het
Hsd17b12 A T 2: 94,043,935 F208I probably damaging Het
Inf2 A G 12: 112,612,574 probably benign Het
Kcnh3 T A 15: 99,229,456 W378R probably damaging Het
Klhdc8b G C 9: 108,449,223 R158G possibly damaging Het
Klhl41 G A 2: 69,670,210 R5Q probably benign Het
Lcn3 T C 2: 25,766,409 probably null Het
Muc20 G A 16: 32,793,930 A359V probably damaging Het
Myh14 T C 7: 44,613,681 D1765G probably damaging Het
Olfr1257 C T 2: 89,880,891 Q22* probably null Het
Olfr418 T C 1: 173,270,805 M210T probably benign Het
Olfr482 A G 7: 108,094,778 M264T probably benign Het
Pbrm1 T A 14: 31,035,959 L182Q probably damaging Het
Pde8a A G 7: 81,317,347 N412S probably benign Het
Phyh A G 2: 4,936,101 T271A probably damaging Het
Pkhd1l1 T C 15: 44,489,546 S258P probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Pyroxd1 A G 6: 142,345,737 E2G probably benign Het
Ralgapa1 G T 12: 55,676,765 Q2115K probably benign Het
Rufy3 A G 5: 88,584,270 E44G possibly damaging Het
Slit2 A T 5: 48,238,379 N712I probably damaging Het
Sptbn1 A G 11: 30,145,985 M303T possibly damaging Het
Ssbp4 A G 8: 70,599,859 I154T probably benign Het
Syne2 A G 12: 75,931,004 K1409E probably benign Het
Tfap2b T C 1: 19,234,225 Y420H probably damaging Het
Tlr5 A G 1: 182,975,696 probably null Het
Tmprss15 C T 16: 79,024,749 probably null Het
Tns1 A T 1: 73,920,563 I418N probably damaging Het
Txlna A T 4: 129,629,191 V452D probably benign Het
Wdr17 C T 8: 54,693,096 A90T possibly damaging Het
Zfp563 A T 17: 33,104,685 S85C possibly damaging Het
Other mutations in Mppe1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Mppe1 APN 18 67237444 nonsense probably null
IGL03028:Mppe1 APN 18 67227684 missense probably damaging 1.00
R0087:Mppe1 UTSW 18 67225704 makesense probably null
R0538:Mppe1 UTSW 18 67237477 missense probably damaging 1.00
R1170:Mppe1 UTSW 18 67227706 missense probably damaging 1.00
R1970:Mppe1 UTSW 18 67229772 missense probably benign 0.07
R2229:Mppe1 UTSW 18 67228011 critical splice donor site probably null
R3874:Mppe1 UTSW 18 67225886 critical splice acceptor site probably null
R4194:Mppe1 UTSW 18 67228068 missense probably benign 0.27
R4775:Mppe1 UTSW 18 67226859 missense possibly damaging 0.96
R4940:Mppe1 UTSW 18 67228024 missense probably damaging 1.00
R4974:Mppe1 UTSW 18 67228062 missense probably benign
R4979:Mppe1 UTSW 18 67229702 missense probably damaging 1.00
R5768:Mppe1 UTSW 18 67225818 missense possibly damaging 0.87
R5784:Mppe1 UTSW 18 67228027 missense probably benign 0.12
R5895:Mppe1 UTSW 18 67225763 missense probably benign 0.00
R6547:Mppe1 UTSW 18 67228988 missense probably benign
R7161:Mppe1 UTSW 18 67229771 missense probably benign 0.10
R7580:Mppe1 UTSW 18 67237417 missense probably damaging 0.99
R7699:Mppe1 UTSW 18 67225704 makesense probably null
R7700:Mppe1 UTSW 18 67225704 makesense probably null
R7908:Mppe1 UTSW 18 67228984 missense probably benign 0.01
R8399:Mppe1 UTSW 18 67225875 missense probably benign 0.17
Predicted Primers PCR Primer
(F):5'- AGCTTTGGTTGCCTGTACTAACCC -3'
(R):5'- GAGAGCGTTGCTGTTGAAACTCAC -3'

Sequencing Primer
(F):5'- GGTTGCCTGTACTAACCCAGTAG -3'
(R):5'- AGTTGTCATTATCTCTGTGCTTCTG -3'
Posted On2013-06-11