Incidental Mutation 'R0315:Mpv17l'
ID 261822
Institutional Source Beutler Lab
Gene Symbol Mpv17l
Ensembl Gene ENSMUSG00000022679
Gene Name Mpv17 transgene, kidney disease mutant-like
Synonyms M-LP
MMRRC Submission 038525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R0315 (G1)
Quality Score 92
Status Not validated
Chromosome 16
Chromosomal Location 13721025-13767483 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13758863 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q99MS3
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 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.9%
  • 20x: 88.9%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,826,378 (GRCm39) R409Q possibly damaging Het
Ank3 A T 10: 69,838,347 (GRCm39) Q825L probably damaging Het
Ap1g1 A G 8: 110,545,667 (GRCm39) I107V probably benign Het
Bub1b A T 2: 118,457,457 (GRCm39) probably benign Het
Cd86 C T 16: 36,441,306 (GRCm39) V54I possibly damaging Het
Dpys T G 15: 39,720,734 (GRCm39) I9L probably benign Het
Fbxl17 G A 17: 63,663,846 (GRCm39) R67C probably damaging Het
Flg2 G T 3: 93,122,029 (GRCm39) G1400C unknown Het
Gm28042 T C 2: 119,869,538 (GRCm39) L634P probably damaging Het
Gm6712 G A 17: 17,536,380 (GRCm39) noncoding transcript Het
Gpbp1 T G 13: 111,573,072 (GRCm39) E360A possibly damaging Het
Hmgn1 A C 16: 95,926,017 (GRCm39) I52R probably benign Het
Ing2 A C 8: 48,122,125 (GRCm39) M141R probably benign Het
Klhl2 A T 8: 65,196,053 (GRCm39) Y563* probably null Het
Lrrc9 A G 12: 72,502,802 (GRCm39) T258A probably damaging Het
Map1b A T 13: 99,567,624 (GRCm39) I1699N unknown Het
Map2k5 A T 9: 63,210,433 (GRCm39) H185Q probably damaging Het
Mroh1 C T 15: 76,311,800 (GRCm39) A511V possibly damaging Het
Nop53 T C 7: 15,679,235 (GRCm39) D90G probably damaging Het
Or10k2 T C 8: 84,268,001 (GRCm39) V76A possibly damaging Het
Or5b97 A T 19: 12,878,598 (GRCm39) V182D possibly damaging Het
Or5w20 A T 2: 87,727,410 (GRCm39) Y289F probably damaging Het
Or6c209 T A 10: 129,483,366 (GRCm39) I123N probably damaging Het
Pkd2 T A 5: 104,607,716 (GRCm39) S72T possibly damaging Het
Prc1 T C 7: 79,963,284 (GRCm39) S587P probably damaging Het
Rdh7 G T 10: 127,724,265 (GRCm39) T73K possibly damaging Het
Runx1 T C 16: 92,402,655 (GRCm39) N429S probably damaging Het
Skint7 G A 4: 111,845,315 (GRCm39) A376T possibly damaging Het
Slc16a14 T C 1: 84,890,217 (GRCm39) I363V possibly damaging Het
Smarcal1 C T 1: 72,634,970 (GRCm39) Q350* probably null Het
Soat1 T A 1: 156,268,083 (GRCm39) K275* probably null Het
Speg T C 1: 75,391,780 (GRCm39) V1571A possibly damaging Het
Stat5b G C 11: 100,679,286 (GRCm39) D605E probably benign Het
Susd4 G A 1: 182,686,077 (GRCm39) R209H probably benign Het
Tlr1 T G 5: 65,084,271 (GRCm39) D102A probably damaging Het
Tm4sf5 A G 11: 70,401,462 (GRCm39) N154D probably damaging Het
Tmigd3 T A 3: 105,824,085 (GRCm39) M18K probably damaging Het
Ube2h A T 6: 30,241,412 (GRCm39) V86E probably damaging Het
Utp20 A G 10: 88,643,283 (GRCm39) L613P probably damaging Het
Vmn2r117 G A 17: 23,679,139 (GRCm39) S695L probably benign Het
Washc5 T C 15: 59,213,825 (GRCm39) D427G probably damaging Het
Zfp462 T A 4: 55,079,314 (GRCm39) F2403I probably damaging Het
Other mutations in Mpv17l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0314:Mpv17l UTSW 16 13,758,863 (GRCm39) missense probably benign 0.06
R0384:Mpv17l UTSW 16 13,758,863 (GRCm39) missense probably benign 0.06
R0385:Mpv17l UTSW 16 13,758,863 (GRCm39) missense probably benign 0.06
R0388:Mpv17l UTSW 16 13,758,863 (GRCm39) missense probably benign 0.06
R0440:Mpv17l UTSW 16 13,762,583 (GRCm39) missense probably damaging 1.00
R1544:Mpv17l UTSW 16 13,764,683 (GRCm39) missense probably damaging 1.00
R5092:Mpv17l UTSW 16 13,758,537 (GRCm39) start codon destroyed probably null
R5721:Mpv17l UTSW 16 13,764,658 (GRCm39) missense probably damaging 1.00
R5805:Mpv17l UTSW 16 13,760,013 (GRCm39) intron probably benign
R6488:Mpv17l UTSW 16 13,764,452 (GRCm39) critical splice donor site probably null
R8271:Mpv17l UTSW 16 13,762,584 (GRCm39) missense probably damaging 1.00
R8375:Mpv17l UTSW 16 13,758,863 (GRCm39) missense probably benign 0.06
R8447:Mpv17l UTSW 16 13,758,864 (GRCm39) missense probably benign 0.19
R9535:Mpv17l UTSW 16 13,759,149 (GRCm39) missense probably benign
Z1176:Mpv17l UTSW 16 13,758,693 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2015-02-04