Mutagenetix > Incidental Mutation

Incidental Mutation 'R0501:Mbp'

47166

Institutional Source

Beutler Lab

Gene Symbol

Mbp

Ensembl Gene

ENSMUSG00000041607

Gene Name

myelin basic protein

Synonyms

golli-mbp, jve, Hmbpr

MMRRC Submission

038696-MU

Accession Numbers

Essential gene?

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

Stock #

R0501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82493271-82603762 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82593322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 100 (S100F)

Ref Sequence

ENSEMBL: ENSMUSP00000099876 (fasta)

Gene Model

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

AlphaFold

P04370

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047865
AA Change: S233F

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046185
Gene: ENSMUSG00000041607
AA Change: S233F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062446
AA Change: S126F

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000053495
Gene: ENSMUSG00000041607
AA Change: S126F

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: S100F

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074836
Gene: ENSMUSG00000041607
AA Change: S100F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000080658
AA Change: S126F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079488
Gene: ENSMUSG00000041607
AA Change: S126F

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: ENSMUST00000102812
AA Change: S100F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099876
Gene: ENSMUSG00000041607
AA Change: S100F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114674
AA Change: S126F

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110322
Gene: ENSMUSG00000041607
AA Change: S126F

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

unknown
Transcript: ENSMUST00000123251
AA Change: S142F

SMART Domains

Protein: ENSMUSP00000121855
Gene: ENSMUSG00000041607
AA Change: S142F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000132369
AA Change: S99F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114230
Gene: ENSMUSG00000041607
AA Change: S99F

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

Predicted Effect

unknown
Transcript: ENSMUST00000142850
AA Change: S123F

SMART Domains

Protein: ENSMUSP00000115082
Gene: ENSMUSG00000041607
AA Change: S123F

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

Predicted Effect

unknown
Transcript: ENSMUST00000152071
AA Change: S162F

SMART Domains

Protein: ENSMUSP00000115409
Gene: ENSMUSG00000041607
AA Change: S162F

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

Predicted Effect

unknown
Transcript: ENSMUST00000133193
AA Change: S121F

SMART Domains

Protein: ENSMUSP00000116019
Gene: ENSMUSG00000041607
AA Change: S121F

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

Predicted Effect

unknown
Transcript: ENSMUST00000153478
AA Change: S137F

SMART Domains

Protein: ENSMUSP00000114630
Gene: ENSMUSG00000041607
AA Change: S137F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150952

Predicted Effect

probably benign
Transcript: ENSMUST00000143506

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,216 (GRCm39)	S415P	probably benign	Het
Adam19	C	T	11: 46,013,957 (GRCm39)	P316S	probably damaging	Het
Adamts2	A	G	11: 50,558,972 (GRCm39)	D229G	probably benign	Het
Adcy10	C	T	1: 165,337,959 (GRCm39)	P191L	probably damaging	Het
Adgrv1	T	C	13: 81,707,269 (GRCm39)	Y1379C	probably damaging	Het
Akap9	T	C	5: 4,020,685 (GRCm39)	L1132P	probably damaging	Het
Aoah	A	G	13: 21,189,243 (GRCm39)	T489A	probably benign	Het
Apc2	T	C	10: 80,150,958 (GRCm39)	L1975P	probably damaging	Het
Bpifa5	A	T	2: 154,005,616 (GRCm39)	D66V	probably benign	Het
C230029F24Rik	T	C	1: 49,374,629 (GRCm39)		noncoding transcript	Het
Cacna1h	A	T	17: 25,607,641 (GRCm39)	V892E	probably damaging	Het
Car4	G	A	11: 84,854,268 (GRCm39)	V72I	probably benign	Het
Cfap91	C	G	16: 38,155,997 (GRCm39)	M75I	probably damaging	Het
Chst3	A	G	10: 60,022,049 (GRCm39)	L266P	probably damaging	Het
Ckap2l	G	A	2: 129,127,411 (GRCm39)	R256W	possibly damaging	Het
Cntn4	A	T	6: 106,595,296 (GRCm39)	D471V	probably damaging	Het
Cntrob	G	A	11: 69,213,694 (GRCm39)	S32F	probably damaging	Het
Cpne7	T	A	8: 123,852,994 (GRCm39)	N200K	possibly damaging	Het
Creb3l3	C	A	10: 80,922,416 (GRCm39)	M271I	probably benign	Het
Csmd1	T	A	8: 17,077,339 (GRCm39)	Q106L	probably damaging	Het
D7Ertd443e	G	A	7: 133,896,701 (GRCm39)	T563I	probably damaging	Het
Dmac1	T	G	4: 75,196,413 (GRCm39)	N26H	unknown	Het
Dop1b	T	C	16: 93,549,750 (GRCm39)	F230L	probably benign	Het
Dpp6	T	A	5: 27,930,604 (GRCm39)	I812N	probably damaging	Het
Fabp12	T	C	3: 10,315,203 (GRCm39)	D48G	probably benign	Het
Fbn1	G	A	2: 125,143,669 (GRCm39)	T2820M	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fcho2	A	T	13: 98,901,023 (GRCm39)	S277R	possibly damaging	Het
Fmo2	A	G	1: 162,704,497 (GRCm39)	S470P	probably benign	Het
Gm17541	T	G	12: 4,739,730 (GRCm39)		probably benign	Het
Gm4353	A	T	7: 115,682,706 (GRCm39)	Y292N	probably benign	Het
Igkv4-71	A	T	6: 69,220,290 (GRCm39)	I69N	probably damaging	Het
Insrr	G	T	3: 87,717,991 (GRCm39)	A871S	probably benign	Het
Irs2	C	T	8: 11,056,396 (GRCm39)	V679M	probably damaging	Het
Itpr3	T	A	17: 27,326,263 (GRCm39)	H1344Q	probably benign	Het
Kcnma1	T	C	14: 23,361,784 (GRCm39)	M1074V	possibly damaging	Het
Kif1a	G	A	1: 92,983,967 (GRCm39)	R602W	probably damaging	Het
Kif21b	A	T	1: 136,090,837 (GRCm39)	D1215V	probably benign	Het
Mapk13	G	A	17: 28,995,327 (GRCm39)	V183M	probably damaging	Het
Mcm6	A	G	1: 128,283,373 (GRCm39)	I44T	probably benign	Het
Ncor1	T	A	11: 62,264,148 (GRCm39)	D418V	possibly damaging	Het
Nid2	T	A	14: 19,839,736 (GRCm39)		probably null	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Or10a5	A	T	7: 106,635,439 (GRCm39)	T26S	probably benign	Het
Or10ak14	C	A	4: 118,611,027 (GRCm39)	C238F	probably benign	Het
Or12e9	A	T	2: 87,201,896 (GRCm39)	R7W	probably damaging	Het
Or13e8	A	C	4: 43,697,079 (GRCm39)	C31W	probably damaging	Het
Or1j1	A	T	2: 36,702,492 (GRCm39)	L204*	probably null	Het
Or2ag1	A	T	7: 106,313,810 (GRCm39)	M26K	probably benign	Het
Or2ag18	G	A	7: 106,405,018 (GRCm39)	S217F	probably damaging	Het
Or4a68	T	C	2: 89,270,060 (GRCm39)	T188A	probably benign	Het
Or4e1	T	A	14: 52,701,383 (GRCm39)	M1L	possibly damaging	Het
Or5d14	A	T	2: 87,880,815 (GRCm39)	I51N	probably damaging	Het
Or5m12	A	G	2: 85,735,348 (GRCm39)	F17L	probably damaging	Het
Or7g35	T	A	9: 19,495,914 (GRCm39)	I27N	probably damaging	Het
Pcgf3	T	A	5: 108,622,978 (GRCm39)	C38S	probably damaging	Het
Pdia4	A	T	6: 47,777,936 (GRCm39)	V352E	probably damaging	Het
Pik3c2a	C	A	7: 115,953,290 (GRCm39)	V1202L	probably damaging	Het
Rbm15	G	T	3: 107,239,846 (GRCm39)	A184E	possibly damaging	Het
Rsph3a	T	A	17: 8,197,952 (GRCm39)	L442*	probably null	Het
Scg2	G	C	1: 79,413,320 (GRCm39)	L468V	probably damaging	Het
Sdk1	A	T	5: 141,923,473 (GRCm39)	I365L	probably benign	Het
Setdb1	A	G	3: 95,246,140 (GRCm39)	V595A	probably benign	Het
Skic3	A	C	13: 76,295,925 (GRCm39)	M1063L	probably benign	Het
Slc22a22	T	A	15: 57,113,046 (GRCm39)	T398S	probably benign	Het
Stk11	C	A	10: 79,962,119 (GRCm39)	P217Q	probably damaging	Het
Tes	G	A	6: 17,097,557 (GRCm39)	D222N	probably benign	Het
Tmem132e	T	A	11: 82,325,894 (GRCm39)	I206N	possibly damaging	Het
Tmem214	G	T	5: 31,029,876 (GRCm39)	R251L	probably damaging	Het
Tmem253	T	A	14: 52,256,036 (GRCm39)	I105N	probably damaging	Het
Toe1	A	G	4: 116,664,682 (GRCm39)	V12A	probably benign	Het
Top1	C	A	2: 160,556,079 (GRCm39)	H513N	probably damaging	Het
Tph1	G	T	7: 46,299,412 (GRCm39)	Y376*	probably null	Het
Trim45	T	A	3: 100,830,535 (GRCm39)	L103Q	probably damaging	Het
Ttn	T	A	2: 76,774,518 (GRCm39)		probably null	Het
Twnk	T	C	19: 44,996,185 (GRCm39)	V206A	probably damaging	Het
Ube2z	A	G	11: 95,941,114 (GRCm39)	S343P	probably damaging	Het
Vmn2r8	T	C	5: 108,951,049 (GRCm39)	D132G	probably benign	Het
Wdr20rt	A	T	12: 65,272,581 (GRCm39)	T15S	probably benign	Het
Wdr59	C	T	8: 112,185,579 (GRCm39)	R841Q	possibly damaging	Het
Wdtc1	A	G	4: 133,036,151 (GRCm39)	F130L	possibly damaging	Het
Wnk1	C	T	6: 119,939,764 (GRCm39)	R43Q	probably damaging	Het
Ythdf3	T	C	3: 16,259,236 (GRCm39)	L461P	probably damaging	Het
Zcchc2	T	G	1: 105,943,821 (GRCm39)	F462C	possibly 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
R0628:Mbp	UTSW	18	82,572,742 (GRCm39)	missense	probably damaging	1.00
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'- AGTAGATGTGCCATTTCCAGCCCC -3'
(R):5'- AGCTTCAAGGCCAGGACGTGAATC -3'

Sequencing Primer
(F):5'- ATTTCCAGCCCCAGGAAGG -3'
(R):5'- AGGACGTGAATCCCAGCTC -3'

Posted On

2013-06-12