Mutagenetix > Incidental Mutation

Incidental Mutation 'R1843:Mbp'

207494

Institutional Source

Beutler Lab

Gene Symbol

Mbp

Ensembl Gene

ENSMUSG00000041607

Gene Name

myelin basic protein

Synonyms

golli-mbp, jve, Hmbpr

MMRRC Submission

039868-MU

Accession Numbers

Essential gene?

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

Stock #

R1843 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

82493271-82603762 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82602247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 174 (D174G)

Ref Sequence

ENSEMBL: ENSMUSP00000110322 (fasta)

Gene Model

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

AlphaFold

P04370

Predicted Effect

probably damaging
Transcript: ENSMUST00000047865
AA Change: D240G

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

SMART Domains

Protein: ENSMUSP00000046185
Gene: ENSMUSG00000041607
AA Change: D240G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000062446
AA Change: D185G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053495
Gene: ENSMUSG00000041607
AA Change: D185G

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: D148G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074836
Gene: ENSMUSG00000041607
AA Change: D148G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000080658
AA Change: D144G

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

SMART Domains

Protein: ENSMUSP00000079488
Gene: ENSMUSG00000041607
AA Change: D144G

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: D159G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099876
Gene: ENSMUSG00000041607
AA Change: D159G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114674
AA Change: D174G

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

SMART Domains

Protein: ENSMUSP00000110322
Gene: ENSMUSG00000041607
AA Change: D174G

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: D201G

SMART Domains

Protein: ENSMUSP00000121855
Gene: ENSMUSG00000041607
AA Change: D201G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000132369
AA Change: D147G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114230
Gene: ENSMUSG00000041607
AA Change: D147G

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

Predicted Effect

unknown
Transcript: ENSMUST00000142850
AA Change: D182G

SMART Domains

Protein: ENSMUSP00000115082
Gene: ENSMUSG00000041607
AA Change: D182G

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

Predicted Effect

unknown
Transcript: ENSMUST00000133193
AA Change: D139G

SMART Domains

Protein: ENSMUSP00000116019
Gene: ENSMUSG00000041607
AA Change: D139G

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

Predicted Effect

unknown
Transcript: ENSMUST00000152071
AA Change: D180G

SMART Domains

Protein: ENSMUSP00000115409
Gene: ENSMUSG00000041607
AA Change: D180G

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

Predicted Effect

unknown
Transcript: ENSMUST00000153478
AA Change: D185G

SMART Domains

Protein: ENSMUSP00000114630
Gene: ENSMUSG00000041607
AA Change: D185G

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	C	T	8: 106,435,606 (GRCm39)	T88M	probably damaging	Het
9430038I01Rik	A	G	7: 136,978,795 (GRCm39)		probably benign	Het
Adgra3	A	C	5: 50,118,834 (GRCm39)	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,692,652 (GRCm39)	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,176 (GRCm39)	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,321,623 (GRCm39)	K360E	probably damaging	Het
Anks1b	T	A	10: 90,348,751 (GRCm39)		probably null	Het
Apob	T	C	12: 8,057,602 (GRCm39)	F2028S	possibly damaging	Het
Arap3	G	A	18: 38,108,636 (GRCm39)	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,651,121 (GRCm39)	Y135H	probably damaging	Het
Armh3	A	C	19: 45,963,691 (GRCm39)	S42R	probably benign	Het
Atp1a1	T	C	3: 101,489,333 (GRCm39)	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,289,255 (GRCm39)	M497L	probably benign	Het
Ces5a	C	T	8: 94,240,859 (GRCm39)	V413M	probably damaging	Het
Chd5	A	T	4: 152,470,263 (GRCm39)	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,737,422 (GRCm39)	N1500K	probably benign	Het
Chmp7	G	T	14: 69,957,248 (GRCm39)	D303E	probably benign	Het
Chrnb4	A	T	9: 54,942,102 (GRCm39)	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,840,802 (GRCm39)	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,865,972 (GRCm39)	I207T	probably benign	Het
Dcp1a	A	G	14: 30,240,940 (GRCm39)	E250G	probably damaging	Het
Ddx20	T	C	3: 105,586,398 (GRCm39)	Q649R	probably benign	Het
Defb12	T	A	8: 19,162,754 (GRCm39)	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,429,185 (GRCm39)	I85N	probably damaging	Het
Duox2	C	T	2: 122,122,739 (GRCm39)		probably null	Het
Ebi3	T	A	17: 56,263,679 (GRCm39)	Y197N	probably damaging	Het
Emc1	G	A	4: 139,102,823 (GRCm39)	R994Q	probably benign	Het
Ercc6	G	T	14: 32,268,777 (GRCm39)	M530I	probably damaging	Het
Evl	T	A	12: 108,619,255 (GRCm39)	D70E	probably damaging	Het
Fbln2	A	G	6: 91,242,757 (GRCm39)	N819S	probably damaging	Het
Foxk2	A	G	11: 121,176,363 (GRCm39)	I170V	probably benign	Het
Gfm1	T	C	3: 67,342,943 (GRCm39)	V159A	probably damaging	Het
Gm10837	A	G	14: 122,728,177 (GRCm39)	T18A	unknown	Het
Gm12887	A	T	4: 121,479,227 (GRCm39)	V25E	probably damaging	Het
Hectd4	A	G	5: 121,435,243 (GRCm39)	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,675,791 (GRCm39)	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,272,878 (GRCm39)	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,923,157 (GRCm39)		probably null	Het
Invs	T	A	4: 48,422,035 (GRCm39)	I889N	probably damaging	Het
Kcnq1	A	T	7: 142,736,857 (GRCm39)	M209L	probably benign	Het
Klra7	A	G	6: 130,206,957 (GRCm39)	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrif1	T	A	3: 106,640,127 (GRCm39)	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,063,034 (GRCm39)		probably null	Het
Lypd6	T	A	2: 50,078,774 (GRCm39)	I90N	possibly damaging	Het
Megf9	G	T	4: 70,453,022 (GRCm39)	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,760,412 (GRCm39)	T1155S	probably benign	Het
Nherf2	C	T	17: 24,860,693 (GRCm39)	S150N	possibly damaging	Het
Nlrp6	T	A	7: 140,503,006 (GRCm39)	C371S	probably damaging	Het
Nosip	T	A	7: 44,726,733 (GRCm39)		probably null	Het
Nox3	G	T	17: 3,720,153 (GRCm39)	P344H	probably damaging	Het
Nup210l	T	C	3: 90,079,393 (GRCm39)	V959A	probably damaging	Het
Or10d1	A	G	9: 39,484,031 (GRCm39)	Y175H	possibly damaging	Het
Or2b2b	C	A	13: 21,858,842 (GRCm39)	V91L	probably benign	Het
Or2k2	T	C	4: 58,785,384 (GRCm39)	I113V	probably benign	Het
Or5b119	A	G	19: 13,457,295 (GRCm39)	I89T	probably benign	Het
Or5k8	T	A	16: 58,644,440 (GRCm39)	I211F	probably damaging	Het
Osbpl3	A	C	6: 50,347,123 (GRCm39)	S25A	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Pax7	G	A	4: 139,511,802 (GRCm39)	R260C	probably damaging	Het
Pbrm1	A	T	14: 30,760,914 (GRCm39)	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,325,278 (GRCm39)		probably null	Het
Pcnx1	T	C	12: 82,027,709 (GRCm39)	L1585P	probably damaging	Het
Pde4c	C	T	8: 71,200,599 (GRCm39)	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pgm1	A	T	4: 99,818,675 (GRCm39)	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,271,235 (GRCm39)	H814R	probably benign	Het
Pknox2	A	T	9: 36,866,127 (GRCm39)	M5K	possibly damaging	Het
Pole	G	A	5: 110,478,701 (GRCm39)		probably null	Het
Polr1b	A	G	2: 128,944,886 (GRCm39)	I61V	probably benign	Het
Prelp	T	C	1: 133,842,495 (GRCm39)	K217E	probably damaging	Het
Prkce	C	T	17: 86,782,974 (GRCm39)	Q202*	probably null	Het
Psmd2	T	G	16: 20,475,332 (GRCm39)	M370R	probably benign	Het
Rimklb	A	T	6: 122,440,968 (GRCm39)	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,630,420 (GRCm39)	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,426,321 (GRCm39)	M1L	probably benign	Het
Scrn1	A	G	6: 54,499,826 (GRCm39)	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,778,244 (GRCm39)	S461G	probably benign	Het
Serpina1c	T	A	12: 103,861,282 (GRCm39)	T411S	probably benign	Het
Serpinb6d	C	T	13: 33,855,364 (GRCm39)	P346L	probably benign	Het
Shld2	A	G	14: 33,989,760 (GRCm39)	I382T	probably benign	Het
Spg21	G	T	9: 65,372,618 (GRCm39)	V17F	probably damaging	Het
Spink5	A	T	18: 44,132,958 (GRCm39)	M525L	probably benign	Het
Sun2	T	C	15: 79,621,764 (GRCm39)	T155A	probably benign	Het
Tchh	T	A	3: 93,354,087 (GRCm39)	F1176I	unknown	Het
Tex15	T	A	8: 34,066,682 (GRCm39)	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,199,857 (GRCm39)	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,097,143 (GRCm39)	N139S	probably benign	Het
Tns2	C	T	15: 102,021,568 (GRCm39)		probably null	Het
Trim66	T	C	7: 109,075,046 (GRCm39)	E405G	probably damaging	Het
Trpc4	T	A	3: 54,187,415 (GRCm39)	F456I	probably benign	Het
Tspo2	T	C	17: 48,755,818 (GRCm39)	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,032,850 (GRCm39)	C304*	probably null	Het
Vgll4	A	T	6: 114,839,756 (GRCm39)	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,464,732 (GRCm39)	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,818,183 (GRCm39)	S587A	probably benign	Het
Vps4b	C	A	1: 106,706,712 (GRCm39)	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,048,314 (GRCm39)	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010 (GRCm39)	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp764l1	A	C	7: 126,990,660 (GRCm39)	D442E	probably benign	Het
Zswim5	G	T	4: 116,734,896 (GRCm39)	E80D	unknown	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
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
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'- TCCACTTAGGGCTTTCTGCAG -3'
(R):5'- AATAGTTTTAACCAGTCGGGGTG -3'

Sequencing Primer
(F):5'- CTGCAGGCGGTGTGACAAATC -3'
(R):5'- CCAGTCGGGGTGCCGTG -3'

Posted On

2014-06-23