Incidental Mutation 'IGL00951:Mpzl1'
ID26692
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 #IGL00951
Quality Score
Status
Chromosome1
Chromosomal Location165592240-165634538 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 165605822 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 87 (F87L)
Ref Sequence ENSEMBL: ENSMUSP00000107062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068705] [ENSMUST00000111435] [ENSMUST00000191818] [ENSMUST00000193023] [ENSMUST00000193910] [ENSMUST00000194437]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068705
AA Change: F87L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000070343
Gene: ENSMUSG00000026566
AA Change: F87L

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 damaging
Transcript: ENSMUST00000111435
AA Change: F87L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107062
Gene: ENSMUSG00000026566
AA Change: F87L

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 possibly damaging
Transcript: ENSMUST00000191818
AA Change: F61L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000141361
Gene: ENSMUSG00000026566
AA Change: F61L

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 damaging
Transcript: ENSMUST00000193023
AA Change: F87L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141463
Gene: ENSMUSG00000026566
AA Change: F87L

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 probably benign
Transcript: ENSMUST00000193948
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: F31L
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 C A 9: 99,505,704 R388L probably benign Het
Bcan T C 3: 87,994,174 E407G probably damaging Het
Brms1l A G 12: 55,866,049 I276V possibly damaging Het
Brpf1 C A 6: 113,322,553 D1182E probably damaging Het
Clpb A G 7: 101,751,260 M268V probably benign Het
Cpne8 A T 15: 90,601,893 probably benign Het
Ddx25 A T 9: 35,552,835 probably null Het
Dgki A G 6: 37,000,159 M672T probably damaging Het
Fhdc1 T C 3: 84,464,313 T112A possibly damaging Het
Galnt7 A T 8: 57,583,824 M177K probably damaging Het
Gucy1a1 T C 3: 82,111,191 D113G probably benign Het
Hp T C 8: 109,577,497 D24G possibly damaging Het
Jak2 A G 19: 29,299,583 R847G probably damaging Het
Lama2 A T 10: 27,030,285 D2391E probably benign Het
Ms4a4d A T 19: 11,554,921 I144F probably benign Het
Olfr152 A T 2: 87,782,539 I2F probably benign Het
Olfr186 G A 16: 59,027,853 T18I probably benign Het
Olfr191 A C 16: 59,086,393 L30R possibly damaging Het
Olfr214 G A 6: 116,557,066 V214I probably benign Het
Olfr818 A G 10: 129,945,712 S2P probably damaging Het
Prr16 A G 18: 51,303,339 R297G probably damaging Het
Ralgps1 A C 2: 33,273,602 L148V probably damaging Het
Rara A G 11: 98,968,166 D150G probably benign Het
Rb1 A T 14: 73,322,072 V64D probably damaging Het
Ros1 A G 10: 52,143,252 Y742H probably damaging Het
Rpl7a A G 2: 26,912,429 D160G possibly damaging Het
Sdccag8 A G 1: 176,878,002 M461V possibly damaging Het
Tagln T A 9: 45,930,872 N141I probably benign Het
Tas2r137 A T 6: 40,491,979 R248* probably null Het
Ube2j2 C T 4: 155,946,377 probably benign Het
Ulk1 A G 5: 110,792,404 C384R possibly damaging Het
Ush2a A T 1: 188,263,465 E144D probably benign Het
Vkorc1l1 C T 5: 129,982,267 T144I probably benign Het
Zfp235 T C 7: 24,137,080 F17S probably damaging Het
Other mutations in Mpzl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Mpzl1 APN 1 165593608 missense probably damaging 1.00
IGL01388:Mpzl1 APN 1 165605767 missense probably benign 0.44
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 On2013-04-17