Mutagenetix > Incidental Mutation

Incidental Mutation 'R0628:Mbp'

57728

Institutional Source

Beutler Lab

Gene Symbol

Mbp

Ensembl Gene

ENSMUSG00000041607

Gene Name

myelin basic protein

Synonyms

golli-mbp, jve, Hmbpr

MMRRC Submission

038817-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.259) question?

Stock #

R0628 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82493271-82603762 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82572742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 13 (Y13C)

Ref Sequence

ENSEMBL: ENSMUSP00000110322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047865] [ENSMUST00000062446] [ENSMUST00000075372] [ENSMUST00000080658] [ENSMUST00000091789] [ENSMUST00000102812] [ENSMUST00000114674] [ENSMUST00000132369] [ENSMUST00000143506]

AlphaFold

P04370

Predicted Effect

probably damaging
Transcript: ENSMUST00000047865
AA Change: Y146C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046185
Gene: ENSMUSG00000041607
AA Change: Y146C

Domain	Start	End	E-Value	Type
Pfam:Myelin_MBP	147	241	2.7e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000062446
AA Change: Y13C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053495
Gene: ENSMUSG00000041607
AA Change: Y13C

Domain	Start	End	E-Value	Type
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: Y13C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074836
Gene: ENSMUSG00000041607
AA Change: Y13C

Domain	Start	End	E-Value	Type
Pfam:Myelin_MBP	14	158	8.1e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000080658
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079488
Gene: ENSMUSG00000041607
AA Change: Y13C

Domain	Start	End	E-Value	Type
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: Y146C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089393
Gene: ENSMUSG00000041607
AA Change: Y146C

Domain	Start	End	E-Value	Type
Pfam:Myelin_MBP	147	195	4.3e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102812
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099876
Gene: ENSMUSG00000041607
AA Change: Y13C

Domain	Start	End	E-Value	Type
Pfam:Myelin_MBP	14	169	1.7e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114674
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110322
Gene: ENSMUSG00000041607
AA Change: Y13C

Domain	Start	End	E-Value	Type
Pfam:Myelin_MBP	14	85	6.3e-25	PFAM
Pfam:Myelin_MBP	79	184	1.3e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000132369
AA Change: Y12C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000114230
Gene: ENSMUSG00000041607
AA Change: Y12C

Domain	Start	End	E-Value	Type
Pfam:Myelin_MBP	13	157	5.2e-45	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000153478
AA Change: Y24C

SMART Domains

Protein: ENSMUSP00000114630
Gene: ENSMUSG00000041607
AA Change: Y24C

Domain	Start	End	E-Value	Type
Pfam:Myelin_MBP	26	196	6.2e-63	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000123251
AA Change: Y29C

SMART Domains

Protein: ENSMUSP00000121855
Gene: ENSMUSG00000041607
AA Change: Y29C

Domain	Start	End	E-Value	Type
Pfam:Myelin_MBP	31	212	1.4e-72	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000152071
AA Change: Y49C

SMART Domains

Protein: ENSMUSP00000115409
Gene: ENSMUSG00000041607
AA Change: Y49C

Domain	Start	End	E-Value	Type
Pfam:Myelin_MBP	51	191	2.7e-47	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000133193
AA Change: Y34C

SMART Domains

Protein: ENSMUSP00000116019
Gene: ENSMUSG00000041607
AA Change: Y34C

Domain	Start	End	E-Value	Type
Pfam:Myelin_MBP	36	150	4.6e-52	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000142850
AA Change: Y36C

SMART Domains

Protein: ENSMUSP00000115082
Gene: ENSMUSG00000041607
AA Change: Y36C

Domain	Start	End	E-Value	Type
Pfam:Myelin_MBP	38	193	7.9e-78	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143506

Meta Mutation Damage Score

0.3834

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

98% (58/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	C	18: 65,440,367 (GRCm39)	V809G	possibly damaging	Het
Bank1	T	A	3: 135,772,151 (GRCm39)	D493V	probably damaging	Het
Camk2d	T	C	3: 126,604,273 (GRCm39)		probably benign	Het
Ccdc17	T	A	4: 116,455,745 (GRCm39)	L292H	probably damaging	Het
Ccdc7b	A	G	8: 129,837,498 (GRCm39)		probably benign	Het
Cd34	C	A	1: 194,641,525 (GRCm39)	T317K	probably damaging	Het
Col6a5	C	G	9: 105,789,649 (GRCm39)		probably null	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Copa	T	C	1: 171,918,592 (GRCm39)		probably benign	Het
Coq7	T	C	7: 118,128,867 (GRCm39)	D56G	probably damaging	Het
Dlg4	C	T	11: 69,922,610 (GRCm39)	T201I	probably damaging	Het
Dnah7a	T	A	1: 53,536,264 (GRCm39)	D2593V	probably benign	Het
Ect2l	T	A	10: 18,018,788 (GRCm39)	E536V	probably damaging	Het
Emilin3	A	G	2: 160,752,799 (GRCm39)		probably benign	Het
Eml2	T	C	7: 18,935,479 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,320,505 (GRCm39)		probably benign	Het
Fhip2b	T	C	14: 70,825,161 (GRCm39)	T392A	possibly damaging	Het
Gart	C	T	16: 91,430,790 (GRCm39)	R424H	probably benign	Het
Gramd1a	A	G	7: 30,842,049 (GRCm39)	L80P	probably damaging	Het
Herc1	A	G	9: 66,358,163 (GRCm39)	K2415E	probably benign	Het
Ica1	C	T	6: 8,644,256 (GRCm39)		probably benign	Het
Idi2l	T	A	13: 8,990,958 (GRCm39)		probably benign	Het
Iyd	A	T	10: 3,497,127 (GRCm39)	M161L	probably damaging	Het
Kdm5a	T	C	6: 120,392,200 (GRCm39)	L974S	probably damaging	Het
Kif1a	T	C	1: 92,947,605 (GRCm39)	D1619G	probably damaging	Het
Lypd8	C	T	11: 58,275,499 (GRCm39)	T78M	probably damaging	Het
Marchf10	T	A	11: 105,280,986 (GRCm39)	H433L	probably benign	Het
Mertk	A	T	2: 128,580,233 (GRCm39)	N229I	probably damaging	Het
Msrb2	T	A	2: 19,398,091 (GRCm39)	D116E	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Otoa	G	A	7: 120,744,873 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,719,552 (GRCm39)	T1230A	unknown	Het
Polrmt	T	C	10: 79,574,979 (GRCm39)	T851A	possibly damaging	Het
Prpf6	C	T	2: 181,277,841 (GRCm39)	P401L	probably damaging	Het
Rasgrp4	A	G	7: 28,839,635 (GRCm39)		probably benign	Het
Rc3h2	A	T	2: 37,272,064 (GRCm39)		probably benign	Het
Reps1	A	G	10: 17,996,841 (GRCm39)	T588A	probably damaging	Het
Rtel1	A	C	2: 180,993,674 (GRCm39)	S782R	probably benign	Het
Sacm1l	A	G	9: 123,378,060 (GRCm39)		probably benign	Het
Skic3	G	C	13: 76,298,848 (GRCm39)	V1185L	possibly damaging	Het
Skint5	A	T	4: 113,588,266 (GRCm39)	L728*	probably null	Het
Slc9b2	T	A	3: 135,029,536 (GRCm39)		probably benign	Het
Snapc3	A	T	4: 83,368,397 (GRCm39)	H298L	probably benign	Het
Tex9	A	T	9: 72,399,233 (GRCm39)	M1K	probably null	Het
Trappc13	C	T	13: 104,291,424 (GRCm39)		probably benign	Het
Usp3	C	T	9: 66,425,726 (GRCm39)	R467H	probably benign	Het
Vmn2r11	T	A	5: 109,195,597 (GRCm39)	L576F	possibly damaging	Het
Wnk4	T	C	11: 101,165,849 (GRCm39)	F792S	probably benign	Het
Zfp1007	T	C	5: 109,826,442 (GRCm39)		probably null	Het
Zfp280d	T	C	9: 72,269,230 (GRCm39)	V764A	probably benign	Het
Zfp69	G	A	4: 120,806,622 (GRCm39)	Q4*	probably null	Het
Zfp692	T	G	11: 58,200,449 (GRCm39)	L206R	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het
Zic4	T	A	9: 91,266,170 (GRCm39)	Y264*	probably null	Het
Zic4	T	A	9: 91,266,172 (GRCm39)	M272K	probably benign	Het
Zscan4b	A	T	7: 10,635,390 (GRCm39)	N284K	probably damaging	Het

Other mutations in Mbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02176:Mbp	APN	18	82,572,670 (GRCm39)	missense	probably damaging	1.00
IGL02667:Mbp	APN	18	82,572,740 (GRCm39)	missense	probably damaging	1.00
R0501:Mbp	UTSW	18	82,593,322 (GRCm39)	missense	probably damaging	0.98
R0883:Mbp	UTSW	18	82,590,995 (GRCm39)	missense	probably damaging	1.00
R1791:Mbp	UTSW	18	82,572,474 (GRCm39)	missense	probably benign	0.00
R1843:Mbp	UTSW	18	82,602,247 (GRCm39)	missense	probably damaging	1.00
R7453:Mbp	UTSW	18	82,572,768 (GRCm39)	missense	probably damaging	1.00
R7651:Mbp	UTSW	18	82,572,499 (GRCm39)	missense	probably damaging	1.00
R9022:Mbp	UTSW	18	82,597,067 (GRCm39)	missense	possibly damaging	0.71
Z1177:Mbp	UTSW	18	82,579,970 (GRCm39)	missense	probably benign	0.07
Z1177:Mbp	UTSW	18	82,531,135 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGCGATCCAGAACAATGGGACC -3'
(R):5'- AGTATCTCAGACACAGGGACACGG -3'

Sequencing Primer
(F):5'- AACAATGGGACCTCGGC -3'
(R):5'- ATGGTGACTGGCCCAGTTC -3'

Posted On

2013-07-11