Incidental Mutation 'IGL01388:Mpzl1'
ID79126
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mpzl1
Ensembl Gene ENSMUSG00000026566
Gene Namemyelin protein zero-like 1
Synonyms1110007A10Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01388
Quality Score
Status
Chromosome1
Chromosomal Location165592240-165634538 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 165605767 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 105 (D105G)
Ref Sequence ENSEMBL: ENSMUSP00000107062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068705] [ENSMUST00000111435] [ENSMUST00000191818] [ENSMUST00000193023] [ENSMUST00000193910] [ENSMUST00000194437]
Predicted Effect probably benign
Transcript: ENSMUST00000068705
AA Change: D105G

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000070343
Gene: ENSMUSG00000026566
AA Change: D105G

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000111435
AA Change: D105G

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107062
Gene: ENSMUSG00000026566
AA Change: D105G

DomainStartEndE-ValueType
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
AA Change: D79G

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141361
Gene: ENSMUSG00000026566
AA Change: D79G

DomainStartEndE-ValueType
IGv 27 111 5.3e-13 SMART
transmembrane domain 134 165 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192716
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192848
Predicted Effect probably benign
Transcript: ENSMUST00000193023
AA Change: D105G

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141463
Gene: ENSMUSG00000026566
AA Change: D105G

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
IGv 53 137 5.3e-13 SMART
transmembrane domain 162 191 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193172
Predicted Effect probably benign
Transcript: ENSMUST00000193910
Predicted Effect unknown
Transcript: ENSMUST00000193948
AA Change: D10G
Predicted Effect probably benign
Transcript: ENSMUST00000194437
SMART Domains Protein: ENSMUSP00000142164
Gene: ENSMUSG00000026566

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
Blast:IGv 53 86 2e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194829
Predicted Effect unknown
Transcript: ENSMUST00000195410
AA Change: D49G
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 T G 17: 67,853,039 probably benign Het
Ces2b A C 8: 104,834,604 probably benign Het
Col20a1 T A 2: 181,003,471 M924K probably benign Het
Commd4 G A 9: 57,155,989 probably benign Het
Ctnna3 A G 10: 63,504,107 E24G possibly damaging Het
Cyp2a22 C T 7: 26,937,792 R189H probably benign Het
Gm20426 T C 6: 90,178,712 probably benign Het
Gm3839 T C 14: 11,281,836 D33G probably damaging Het
Gm6802 T G 12: 19,490,545 noncoding transcript Het
Igkv8-21 A G 6: 70,315,169 S30P probably benign Het
Lig4 A G 8: 9,973,586 Y65H probably damaging Het
Myo10 A G 15: 25,736,617 I451V possibly damaging Het
Nos2 G T 11: 78,957,452 V1062L probably damaging Het
Oas2 A G 5: 120,748,592 S170P probably damaging Het
Olfr1131 T A 2: 87,628,629 H55Q probably benign Het
Olfr348 G T 2: 36,787,355 V277L probably benign Het
Olfr918 A T 9: 38,673,083 Y120* probably null Het
Olfr970 A G 9: 39,820,002 D121G probably damaging Het
Pcdh7 T C 5: 57,720,204 L367P probably damaging Het
Pde3a A G 6: 141,459,738 T439A probably damaging Het
Plekhm2 T C 4: 141,642,001 Y124C probably damaging Het
Ppp4r4 T A 12: 103,576,849 W155R probably damaging Het
Prl7c1 C A 13: 27,776,215 A115S probably damaging Het
Psg25 T C 7: 18,529,665 I78V possibly damaging Het
Ptpn9 T A 9: 57,036,718 V292E probably benign Het
Ptprs G A 17: 56,421,261 R908C probably damaging Het
Rps6ka1 C T 4: 133,871,964 V51I probably damaging Het
Scube1 T C 15: 83,620,131 I492V probably benign Het
Trappc2 G A X: 166,449,779 probably benign Het
Ubr4 T C 4: 139,460,243 V739A possibly damaging Het
Unc79 T C 12: 103,169,759 probably benign Het
Vmn2r27 G A 6: 124,223,832 P389S possibly damaging Het
Wipi2 T A 5: 142,661,043 F212I 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
IGL01594:Mpzl1 APN 1 165593592 missense probably damaging 1.00
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 On2013-11-05