Incidental Mutation 'IGL02078:Mobp'
ID186028
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mobp
Ensembl Gene ENSMUSG00000032517
Gene Namemyelin-associated oligodendrocytic basic protein
SynonymsMOBP155
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02078
Quality Score
Status
Chromosome9
Chromosomal Location120149707-120181484 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 120167914 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 37 (R37H)
Ref Sequence ENSEMBL: ENSMUSP00000149831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068698] [ENSMUST00000093773] [ENSMUST00000111627] [ENSMUST00000174193] [ENSMUST00000214943] [ENSMUST00000215512]
Predicted Effect probably damaging
Transcript: ENSMUST00000068698
AA Change: R37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000071084
Gene: ENSMUSG00000032517
AA Change: R37H

DomainStartEndE-ValueType
Pfam:FYVE_2 1 75 6.4e-13 PFAM
low complexity region 82 99 N/A INTRINSIC
low complexity region 102 151 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000093773
AA Change: R37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091287
Gene: ENSMUSG00000032517
AA Change: R37H

DomainStartEndE-ValueType
Pfam:FYVE_2 1 77 3.8e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111627
AA Change: R37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107254
Gene: ENSMUSG00000032517
AA Change: R37H

DomainStartEndE-ValueType
Pfam:FYVE_2 1 77 3.8e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174193
AA Change: R37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134410
Gene: ENSMUSG00000032517
AA Change: R37H

DomainStartEndE-ValueType
Pfam:FYVE_2 1 77 3.8e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214943
AA Change: R37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215512
AA Change: R37H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for one null allele show abnormal myelin arrangements but do not exhibit an overt behavorial phenotype. Mice homozygous for another allele have normal myelin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,972,685 K673Q possibly damaging Het
4933412E24Rik T C 15: 60,016,330 D87G probably benign Het
Acap1 C T 11: 69,895,286 R18Q probably damaging Het
Atp1a1 A C 3: 101,591,863 V140G probably damaging Het
Bmpr1b G A 3: 141,870,737 P112S possibly damaging Het
Chst8 T A 7: 34,675,334 N360I possibly damaging Het
Cldn23 A T 8: 35,826,205 V43E possibly damaging Het
Clta T C 4: 44,030,232 F168S probably damaging Het
Cyp2c40 T C 19: 39,767,482 I463V probably benign Het
E2f2 A G 4: 136,193,012 D436G probably damaging Het
Fbxo24 T G 5: 137,624,349 T52P probably damaging Het
Gria4 G A 9: 4,793,878 A60V probably damaging Het
Grm1 C T 10: 10,689,610 V985M probably benign Het
Hexa A G 9: 59,557,303 T159A probably benign Het
Inf2 T A 12: 112,601,614 V200E probably damaging Het
Kif20b T A 19: 34,935,644 V319E probably damaging Het
Klhl10 A G 11: 100,445,751 D188G probably benign Het
Mybpc2 T A 7: 44,503,780 D1086V probably damaging Het
Nadk A C 4: 155,579,403 probably benign Het
Olfr853 T A 9: 19,537,453 H159L probably benign Het
Per1 A G 11: 69,104,299 E619G probably damaging Het
Rab3gap1 G A 1: 127,868,915 probably benign Het
Rimkla A G 4: 119,468,147 L355P probably damaging Het
Rnf139 A G 15: 58,900,031 D635G possibly damaging Het
Sall1 T A 8: 89,030,375 N1034Y probably damaging Het
Serpinb13 A T 1: 106,998,958 Q228L probably damaging Het
Sin3b G T 8: 72,753,580 M903I possibly damaging Het
Slco1a5 A T 6: 142,254,446 M204K probably benign Het
Smo A G 6: 29,754,708 D259G possibly damaging Het
Sult2a4 T C 7: 13,989,544 I15M probably benign Het
Ttn T A 2: 76,942,441 probably null Het
Wdtc1 C A 4: 133,305,960 D176Y probably damaging Het
Other mutations in Mobp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Mobp APN 9 120168234 missense probably benign 0.08
IGL01730:Mobp APN 9 120167926 missense probably damaging 1.00
IGL02470:Mobp APN 9 120168006 missense probably benign 0.18
P0041:Mobp UTSW 9 120168017 utr 3 prime probably benign
R3794:Mobp UTSW 9 120167967 nonsense probably null
R3890:Mobp UTSW 9 120167956 missense probably damaging 1.00
R5173:Mobp UTSW 9 120168245 missense possibly damaging 0.68
R5255:Mobp UTSW 9 120168353 unclassified probably benign
R5549:Mobp UTSW 9 120167810 missense probably damaging 1.00
R5870:Mobp UTSW 9 120167853 missense probably damaging 0.98
R6128:Mobp UTSW 9 120168326 unclassified probably benign
R7267:Mobp UTSW 9 120167848 missense probably damaging 1.00
Posted On2014-05-07