Incidental Mutation 'R0314:Mpv17l'
ID261820
Institutional Source Beutler Lab
Gene Symbol Mpv17l
Ensembl Gene ENSMUSG00000022679
Gene NameMpv17 transgene, kidney disease mutant-like
SynonymsM-LP
MMRRC Submission 038524-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.170) question?
Stock #R0314 (G1)
Quality Score102
Status Not validated
Chromosome16
Chromosomal Location13903161-13949619 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 13940999 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 96 (I96L)
Ref Sequence ENSEMBL: ENSMUSP00000116298 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023360] [ENSMUST00000124947] [ENSMUST00000128757] [ENSMUST00000141971] [ENSMUST00000143697] [ENSMUST00000148966] [ENSMUST00000156143]
Predicted Effect probably benign
Transcript: ENSMUST00000023360
AA Change: I96L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023360
Gene: ENSMUSG00000022679
AA Change: I96L

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 106 169 2.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124947
SMART Domains Protein: ENSMUSP00000117826
Gene: ENSMUSG00000022679

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 1 66 3.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128757
SMART Domains Protein: ENSMUSP00000120169
Gene: ENSMUSG00000022679

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 7 72 5.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141971
SMART Domains Protein: ENSMUSP00000123424
Gene: ENSMUSG00000022679

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 15 80 2.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143697
AA Change: I96L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000148966
AA Change: I96L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000156143
SMART Domains Protein: ENSMUSP00000123656
Gene: ENSMUSG00000022679

DomainStartEndE-ValueType
Pfam:Mpv17_PMP22 10 73 1.9e-26 PFAM
Meta Mutation Damage Score 0.116 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.9%
  • 20x: 88.7%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arih2 T C 9: 108,608,679 N345D probably damaging Het
Ascc3 C T 10: 50,637,999 S298L possibly damaging Het
Cacna1e A G 1: 154,442,251 Y1462H probably damaging Het
Car9 T C 4: 43,509,212 probably null Het
Cenpc1 A T 5: 86,037,371 M427K probably benign Het
Chl1 T A 6: 103,647,301 C57S probably damaging Het
Cntn3 T C 6: 102,420,381 Y77C probably damaging Het
Cobll1 T C 2: 65,089,521 K1187E possibly damaging Het
Fkbpl C T 17: 34,646,052 H265Y possibly damaging Het
Fmo1 T G 1: 162,859,462 E32A probably damaging Het
Fnip2 G A 3: 79,481,189 T715I probably damaging Het
Fzd6 T A 15: 39,025,733 I82K possibly damaging Het
Gm12169 G A 11: 46,528,537 C60Y probably damaging Het
Grm5 T C 7: 87,602,955 S138P probably damaging Het
Klra5 T C 6: 129,903,590 Y115C probably damaging Het
Lgr4 T C 2: 109,991,093 probably benign Het
Limd1 T G 9: 123,516,827 I557S probably benign Het
Neb A T 2: 52,243,331 D3398E probably benign Het
Nup155 T C 15: 8,147,252 S1005P probably benign Het
Olfr1396 A T 11: 49,113,692 D11E possibly damaging Het
Olfr69 T C 7: 103,768,181 D72G probably damaging Het
Pebp4 G T 14: 70,059,654 S214I possibly damaging Het
Pex26 T C 6: 121,184,484 probably null Het
Rbbp8 A T 18: 11,715,818 Q230L probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 probably benign Het
Robo2 G A 16: 73,956,637 T784M probably damaging Het
Slc5a1 T C 5: 33,146,651 I270T probably benign Het
Spag4 C T 2: 156,067,309 probably benign Het
Stt3a T C 9: 36,749,545 probably benign Het
Svep1 C T 4: 58,096,331 E1430K possibly damaging Het
Uba6 A T 5: 86,118,087 V956E probably damaging Het
Ube2j1 T A 4: 33,043,991 probably benign Het
Ubr5 A G 15: 37,997,187 S1741P probably damaging Het
Vmn2r1 A G 3: 64,086,559 T109A probably damaging Het
Vmn2r60 T C 7: 42,135,561 probably benign Het
Vstm2a A G 11: 16,368,388 probably benign Het
Zdhhc20 T A 14: 57,856,619 K195N probably damaging Het
Zfp683 A G 4: 134,058,741 Y393C probably benign Het
Zzz3 T C 3: 152,427,448 S48P probably benign Het
Other mutations in Mpv17l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0315:Mpv17l UTSW 16 13940999 missense probably benign 0.06
R0384:Mpv17l UTSW 16 13940999 missense probably benign 0.06
R0385:Mpv17l UTSW 16 13940999 missense probably benign 0.06
R0388:Mpv17l UTSW 16 13940999 missense probably benign 0.06
R0440:Mpv17l UTSW 16 13944719 missense probably damaging 1.00
R1544:Mpv17l UTSW 16 13946819 missense probably damaging 1.00
R5092:Mpv17l UTSW 16 13940673 start codon destroyed probably null
R5721:Mpv17l UTSW 16 13946794 missense probably damaging 1.00
R5805:Mpv17l UTSW 16 13942149 intron probably benign
R6488:Mpv17l UTSW 16 13946588 critical splice donor site probably null
Predicted Primers
Posted On2015-02-04