Incidental Mutation 'IGL02667:Mbp'
ID302769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mbp
Ensembl Gene ENSMUSG00000041607
Gene Namemyelin basic protein
Synonymsgolli-mbp, Hmbpr
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.257) question?
Stock #IGL02667
Quality Score
Status
Chromosome18
Chromosomal Location82475146-82585637 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 82554615 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Asparagine at position 12 (K12N)
Ref Sequence ENSEMBL: ENSMUSP00000110322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047865] [ENSMUST00000062446] [ENSMUST00000075372] [ENSMUST00000080658] [ENSMUST00000091789] [ENSMUST00000102812] [ENSMUST00000114674] [ENSMUST00000132369] [ENSMUST00000143506]
Predicted Effect probably damaging
Transcript: ENSMUST00000047865
AA Change: K145N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046185
Gene: ENSMUSG00000041607
AA Change: K145N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 147 241 2.7e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000062446
AA Change: K12N

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000053495
Gene: ENSMUSG00000041607
AA Change: K12N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 14 84 6.7e-25 PFAM
Pfam:Myelin_MBP 79 195 6.9e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000075372
AA Change: K12N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074836
Gene: ENSMUSG00000041607
AA Change: K12N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 14 158 8.1e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000080658
AA Change: K12N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079488
Gene: ENSMUSG00000041607
AA Change: K12N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 14 85 4.1e-25 PFAM
Pfam:Myelin_MBP 81 154 3.5e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091789
AA Change: K145N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089393
Gene: ENSMUSG00000041607
AA Change: K145N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 147 195 4.3e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102812
AA Change: K12N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099876
Gene: ENSMUSG00000041607
AA Change: K12N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 14 169 1.7e-48 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114674
AA Change: K12N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110322
Gene: ENSMUSG00000041607
AA Change: K12N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 14 85 6.3e-25 PFAM
Pfam:Myelin_MBP 79 184 1.3e-19 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000123251
AA Change: K28N
SMART Domains Protein: ENSMUSP00000121855
Gene: ENSMUSG00000041607
AA Change: K28N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 31 212 1.4e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132369
AA Change: K11N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114230
Gene: ENSMUSG00000041607
AA Change: K11N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 13 157 5.2e-45 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000133193
AA Change: K33N
SMART Domains Protein: ENSMUSP00000116019
Gene: ENSMUSG00000041607
AA Change: K33N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 36 150 4.6e-52 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000142850
AA Change: K35N
SMART Domains Protein: ENSMUSP00000115082
Gene: ENSMUSG00000041607
AA Change: K35N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 38 193 7.9e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143506
Predicted Effect unknown
Transcript: ENSMUST00000152071
AA Change: K48N
SMART Domains Protein: ENSMUSP00000115409
Gene: ENSMUSG00000041607
AA Change: K48N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 51 191 2.7e-47 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000153478
AA Change: K23N
SMART Domains Protein: ENSMUSP00000114630
Gene: ENSMUSG00000041607
AA Change: K23N

DomainStartEndE-ValueType
Pfam:Myelin_MBP 26 196 6.2e-63 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by the classic Mbp gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, Mbp-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long Mbp gene (otherwise called "Golli-Mbp") that contains 3 additional exons located upstream of the classic Mbp exons. Alternative splicing from the Golli and the Mbp transcription start sites gives rise to 2 sets of Mbp-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-Mbp, spliced in-frame to 1 or more Mbp exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to Mbp aa sequence. The second family of transcripts contain only Mbp exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the Mbp transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. Mutation of the Mbp gene is associated with the 'shiverer' and 'myelin deficient' phenotypes in mouse. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show altered myelination, oligodendrocytes, Ca2+ responses, and visual-evoked potentials. Spontaneous mutations cause dymyelination, tremors and ataxia, and may alter survival, susceptibility to seizures, viral infection and EAE, and hearing or vestibular function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6530409C15Rik A G 6: 28,217,671 noncoding transcript Het
Akr1e1 G A 13: 4,595,667 P174L possibly damaging Het
Arf5 C A 6: 28,425,199 N95K probably damaging Het
Atl3 T C 19: 7,509,416 F39L possibly damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Cyp2a12 T C 7: 27,031,158 S183P probably damaging Het
Dicer1 T A 12: 104,714,906 R449S probably damaging Het
Dlec1 T C 9: 119,127,466 I736T probably benign Het
Eny2 T A 15: 44,429,588 M12K possibly damaging Het
Fbxl21 C T 13: 56,537,129 R349C probably benign Het
Gstm2 A G 3: 107,986,108 L13P probably damaging Het
Gucy2g G A 19: 55,206,177 T936M possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myo18a A G 11: 77,857,852 probably benign Het
Nr2f2 T C 7: 70,357,985 S117G probably damaging Het
Pi4k2b T C 5: 52,750,605 probably benign Het
Pi4ka A G 16: 17,295,461 F1504L possibly damaging Het
Ppm1d T C 11: 85,332,285 W239R probably damaging Het
Setd1b T A 5: 123,157,497 S1043T unknown Het
Tgfbrap1 T C 1: 43,067,620 I298V probably benign Het
Tmem190 T A 7: 4,783,158 D20E probably benign Het
Tph2 A T 10: 115,080,045 C408S probably benign Het
Trmt44 A C 5: 35,571,052 Y295D probably damaging Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubn1 A G 16: 5,062,599 E134G probably damaging Het
Zcchc11 T C 4: 108,558,708 probably benign Het
Other mutations in Mbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02176:Mbp APN 18 82554545 missense probably damaging 1.00
R0501:Mbp UTSW 18 82575197 missense probably damaging 0.98
R0628:Mbp UTSW 18 82554617 missense probably damaging 1.00
R0883:Mbp UTSW 18 82572870 missense probably damaging 1.00
R1791:Mbp UTSW 18 82554349 missense probably benign 0.00
R1843:Mbp UTSW 18 82584122 missense probably damaging 1.00
R7453:Mbp UTSW 18 82554643 missense probably damaging 1.00
Posted On2015-04-16