Incidental Mutation 'IGL01594:Mpzl1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpzl1
Ensembl Gene ENSMUSG00000026566
Gene Namemyelin protein zero-like 1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01594
Quality Score
Chromosomal Location165592240-165634538 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 165593592 bp
Amino Acid Change Aspartic acid to Glycine at position 266 (D266G)
Ref Sequence ENSEMBL: ENSMUSP00000107062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068705] [ENSMUST00000111435] [ENSMUST00000191818] [ENSMUST00000193023] [ENSMUST00000194437]
Predicted Effect probably benign
Transcript: ENSMUST00000068705
SMART Domains Protein: ENSMUSP00000070343
Gene: ENSMUSG00000026566

low complexity region 2 15 N/A INTRINSIC
IGv 53 137 1.28e-10 SMART
transmembrane domain 162 191 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111435
AA Change: D266G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107062
Gene: ENSMUSG00000026566
AA Change: D266G

signal peptide 1 37 N/A INTRINSIC
IGv 53 137 1.28e-10 SMART
transmembrane domain 162 191 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191818
SMART Domains Protein: ENSMUSP00000141361
Gene: ENSMUSG00000026566

IGv 27 111 5.3e-13 SMART
transmembrane domain 134 165 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193023
SMART Domains Protein: ENSMUSP00000141463
Gene: ENSMUSG00000026566

signal peptide 1 37 N/A INTRINSIC
IGv 53 137 5.3e-13 SMART
transmembrane domain 162 191 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000193948
Predicted Effect possibly damaging
Transcript: ENSMUST00000194437
AA Change: D115G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142164
Gene: ENSMUSG00000026566
AA Change: D115G

signal peptide 1 37 N/A INTRINSIC
Blast:IGv 53 86 2e-16 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000195410
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,946,071 probably null Het
Acss1 A T 2: 150,621,530 V618E probably damaging Het
Adgrg6 T C 10: 14,434,340 N774D probably damaging Het
Atp9a A G 2: 168,691,012 V134A probably damaging Het
Csmd3 T A 15: 47,629,239 T3169S probably benign Het
D030068K23Rik T A 8: 109,251,377 Q52L unknown Het
Dnah5 T C 15: 28,311,334 S1820P possibly damaging Het
Fem1c A C 18: 46,506,276 S220A probably benign Het
Gm10305 G A 4: 99,273,177 D108N unknown Het
Gtdc1 A G 2: 44,591,879 probably null Het
Il2ra T C 2: 11,680,396 V181A possibly damaging Het
Lrrn1 T C 6: 107,567,493 I84T probably damaging Het
Map3k1 T A 13: 111,758,189 probably null Het
Mical1 T G 10: 41,480,329 Y293D probably damaging Het
Olfr544 C A 7: 102,485,047 M24I probably benign Het
Pabpc4l A T 3: 46,447,146 V21D probably damaging Het
Prdm10 T C 9: 31,346,853 C525R probably damaging Het
Ptprj C A 2: 90,440,795 probably benign Het
Rgs3 T C 4: 62,619,744 F4S probably damaging Het
Ryr3 G A 2: 112,772,728 T2457I probably damaging Het
Scn3a A G 2: 65,461,431 I1657T probably damaging Het
Sema6a A G 18: 47,248,817 S888P probably damaging Het
Slc37a1 T A 17: 31,319,148 Y148* probably null Het
Tex10 T C 4: 48,469,906 N53S possibly damaging Het
Tyr A T 7: 87,483,814 probably benign Het
Vmn2r100 A G 17: 19,531,233 S513G possibly damaging Het
Other mutations in Mpzl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Mpzl1 APN 1 165605822 missense probably damaging 0.99
IGL01294:Mpzl1 APN 1 165593608 missense probably damaging 1.00
IGL01388:Mpzl1 APN 1 165605767 missense probably benign 0.44
R0517:Mpzl1 UTSW 1 165601790 missense probably damaging 0.98
R1913:Mpzl1 UTSW 1 165601805 missense probably benign
R4352:Mpzl1 UTSW 1 165605807 nonsense probably null
R4997:Mpzl1 UTSW 1 165601781 missense probably damaging 0.98
R5097:Mpzl1 UTSW 1 165605716 missense probably damaging 1.00
R5733:Mpzl1 UTSW 1 165605611 missense probably benign
R7084:Mpzl1 UTSW 1 165604698 missense probably benign 0.00
R7480:Mpzl1 UTSW 1 165604688 missense possibly damaging 0.77
X0065:Mpzl1 UTSW 1 165604646 missense probably damaging 0.99
Posted On2013-12-09