Mutagenetix > Incidental Mutation

Incidental Mutation 'R1791:Mbp'

201786

Institutional Source

Beutler Lab

Gene Symbol

Mbp

Ensembl Gene

ENSMUSG00000041607

Gene Name

myelin basic protein

Synonyms

golli-mbp, jve, Hmbpr

MMRRC Submission

039821-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R1791 (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 82572474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 57 (T57A)

Ref Sequence

ENSEMBL: ENSMUSP00000089393 (fasta)

Gene Model

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

AlphaFold

P04370

Predicted Effect

probably benign
Transcript: ENSMUST00000047865
AA Change: T57A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000046185
Gene: ENSMUSG00000041607
AA Change: T57A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000062446

SMART Domains

Protein: ENSMUSP00000053495
Gene: ENSMUSG00000041607

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 benign
Transcript: ENSMUST00000075372

SMART Domains

Protein: ENSMUSP00000074836
Gene: ENSMUSG00000041607

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

Predicted Effect

probably benign
Transcript: ENSMUST00000080658

SMART Domains

Protein: ENSMUSP00000079488
Gene: ENSMUSG00000041607

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 benign
Transcript: ENSMUST00000091789
AA Change: T57A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000089393
Gene: ENSMUSG00000041607
AA Change: T57A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102812

SMART Domains

Protein: ENSMUSP00000099876
Gene: ENSMUSG00000041607

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114674

SMART Domains

Protein: ENSMUSP00000110322
Gene: ENSMUSG00000041607

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 benign
Transcript: ENSMUST00000143506

Predicted Effect

probably benign
Transcript: ENSMUST00000132369

SMART Domains

Protein: ENSMUSP00000114230
Gene: ENSMUSG00000041607

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123251

SMART Domains

Protein: ENSMUSP00000121855
Gene: ENSMUSG00000041607

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133193

SMART Domains

Protein: ENSMUSP00000116019
Gene: ENSMUSG00000041607

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142850

SMART Domains

Protein: ENSMUSP00000115082
Gene: ENSMUSG00000041607

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153478

SMART Domains

Protein: ENSMUSP00000114630
Gene: ENSMUSG00000041607

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

Predicted Effect

probably benign
Transcript: ENSMUST00000152071

SMART Domains

Protein: ENSMUSP00000115409
Gene: ENSMUSG00000041607

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

Meta Mutation Damage Score

0.0663

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

Validation Efficiency

95% (104/110)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Adrm1b	T	A	3: 92,335,538 (GRCm39)	D388V	probably damaging	Het
Akap13	T	G	7: 75,260,783 (GRCm39)	C333G	probably benign	Het
Akap6	T	C	12: 53,115,908 (GRCm39)	S1004P	probably damaging	Het
Akap7	T	C	10: 25,115,583 (GRCm39)	T181A	probably benign	Het
Ap3b1	A	G	13: 94,545,305 (GRCm39)	E186G	possibly damaging	Het
Arhgap17	T	C	7: 122,885,925 (GRCm39)	T736A	probably benign	Het
Bltp3a	T	A	17: 28,113,720 (GRCm39)	D1297E	probably damaging	Het
Bmp8a	G	T	4: 123,218,378 (GRCm39)	R214S	possibly damaging	Het
Cacna1f	T	C	X: 7,486,678 (GRCm39)	S890P	probably damaging	Het
Cd96	A	T	16: 45,938,362 (GRCm39)	Y34*	probably null	Het
Cdc42ep4	A	G	11: 113,620,163 (GRCm39)	L76P	probably damaging	Het
Cdh23	A	G	10: 60,227,505 (GRCm39)	V1195A	possibly damaging	Het
Cfap57	G	A	4: 118,428,921 (GRCm39)	T1015M	possibly damaging	Het
Chrm3	C	A	13: 9,927,452 (GRCm39)	G528V	probably damaging	Het
Cimap1c	A	T	9: 56,759,027 (GRCm39)	F43I	possibly damaging	Het
Clip4	T	C	17: 72,108,937 (GRCm39)		probably benign	Het
Col9a1	A	T	1: 24,224,386 (GRCm39)	R189S	unknown	Het
Cul4b	A	T	X: 37,636,728 (GRCm39)	I481N	probably damaging	Het
Cyp26b1	A	G	6: 84,561,441 (GRCm39)	S74P	probably benign	Het
Cyp3a57	A	G	5: 145,307,820 (GRCm39)	N192S	probably benign	Het
Dcbld1	A	G	10: 52,195,572 (GRCm39)	D260G	probably damaging	Het
Dhrs7	T	C	12: 72,699,939 (GRCm39)	N231S	probably benign	Het
Disp3	G	A	4: 148,325,975 (GRCm39)	P1261L	probably damaging	Het
Dnaaf4	T	C	9: 72,867,966 (GRCm39)	Y76H	possibly damaging	Het
Eml5	C	A	12: 98,853,315 (GRCm39)	V95F	probably benign	Het
Emsy	A	G	7: 98,297,087 (GRCm39)	I32T	probably damaging	Het
Esr1	A	G	10: 4,733,913 (GRCm39)	R238G	probably damaging	Het
Exosc1	T	C	19: 41,916,524 (GRCm39)	K84R	probably benign	Het
F830016B08Rik	T	A	18: 60,433,589 (GRCm39)	V224E	probably benign	Het
Fam228a	T	A	12: 4,782,748 (GRCm39)	N115I	probably damaging	Het
Farp1	T	C	14: 121,494,157 (GRCm39)	I546T	probably damaging	Het
Fbxo30	T	A	10: 11,165,531 (GRCm39)	C84*	probably null	Het
Fbxw17	A	G	13: 50,579,810 (GRCm39)		probably benign	Het
Foxo4	G	C	X: 100,302,069 (GRCm39)	R192P	probably benign	Het
Galnt7	G	T	8: 57,995,564 (GRCm39)	T377K	probably benign	Het
Garnl3	T	C	2: 32,924,139 (GRCm39)	I248V	probably benign	Het
Glod4	A	G	11: 76,128,534 (GRCm39)	Y104H	probably damaging	Het
Glrb	T	C	3: 80,767,482 (GRCm39)	Y246C	probably damaging	Het
Gm5292	A	G	5: 44,101,752 (GRCm39)		noncoding transcript	Het
Gm5424	C	A	10: 61,908,086 (GRCm39)		noncoding transcript	Het
Gm7276	C	T	18: 77,273,431 (GRCm39)		probably benign	Het
Golga5	A	G	12: 102,458,390 (GRCm39)	N611S	possibly damaging	Het
Gucy2c	A	C	6: 136,721,025 (GRCm39)	Y391D	probably damaging	Het
H6pd	A	G	4: 150,066,130 (GRCm39)	I760T	probably damaging	Het
Hapln2	T	A	3: 87,931,712 (GRCm39)	I5F	possibly damaging	Het
Hdac11	G	T	6: 91,145,806 (GRCm39)	V169L	probably benign	Het
Hectd2	T	C	19: 36,586,816 (GRCm39)	V557A	possibly damaging	Het
Huwe1	T	A	X: 150,647,749 (GRCm39)	N747K	probably benign	Het
Ints1	A	G	5: 139,760,277 (GRCm39)	S66P	probably benign	Het
Ipo7	A	G	7: 109,626,339 (GRCm39)	D49G	probably damaging	Het
Itgb4	G	A	11: 115,879,346 (GRCm39)	C575Y	probably damaging	Het
Klhl3	A	G	13: 58,181,044 (GRCm39)	V250A	possibly damaging	Het
Klk1b24	A	G	7: 43,839,852 (GRCm39)		probably null	Het
Map3k11	T	A	19: 5,745,600 (GRCm39)	Y333*	probably null	Het
Myh9	A	G	15: 77,657,464 (GRCm39)		probably benign	Het
Mypn	C	T	10: 62,961,472 (GRCm39)	R1040Q	probably damaging	Het
Ncdn	A	G	4: 126,645,732 (GRCm39)		probably null	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Or10ab5	T	A	7: 108,245,571 (GRCm39)	T71S	probably benign	Het
Or11h4	AGGGATTGGG	AGGGATTGGGATTGGG	14: 50,974,144 (GRCm39)		probably benign	Het
Or4k15c	A	G	14: 50,321,499 (GRCm39)	F213S	probably benign	Het
Or51b6b	T	C	7: 103,310,005 (GRCm39)		probably null	Het
Or51f1	G	A	7: 102,505,569 (GRCm39)	Q307*	probably null	Het
Or8d2	T	A	9: 38,759,901 (GRCm39)	S164T	possibly damaging	Het
Pbx3	T	C	2: 34,114,464 (GRCm39)	T82A	possibly damaging	Het
Pi15	T	C	1: 17,672,945 (GRCm39)	F48S	probably benign	Het
Pkhd1	A	G	1: 20,655,376 (GRCm39)		probably benign	Het
Ppard	C	G	17: 28,505,348 (GRCm39)	R12G	unknown	Het
Prrc2c	G	T	1: 162,532,551 (GRCm39)		probably benign	Het
Prune1	A	G	3: 95,175,553 (GRCm39)	Y41H	possibly damaging	Het
Rcsd1	T	C	1: 165,483,541 (GRCm39)	D150G	probably damaging	Het
Rgs12	A	T	5: 35,123,456 (GRCm39)	Q413L	possibly damaging	Het
Rhox2h	A	G	X: 36,850,848 (GRCm39)	Y185H	probably damaging	Het
Rnf17	T	A	14: 56,741,464 (GRCm39)	C1306*	probably null	Het
Ros1	T	A	10: 51,976,183 (GRCm39)	M1499L	probably benign	Het
Rubcnl	T	C	14: 75,284,989 (GRCm39)	S503P	probably damaging	Het
Sap18b	A	T	8: 96,552,342 (GRCm39)	R117S	probably benign	Het
Shank2	A	G	7: 143,964,336 (GRCm39)	E858G	probably damaging	Het
Shtn1	T	C	19: 59,020,632 (GRCm39)	R197G	probably damaging	Het
Slamf8	G	A	1: 172,412,087 (GRCm39)	R163*	probably null	Het
Slc6a3	T	C	13: 73,714,411 (GRCm39)	I392T	possibly damaging	Het
Sp140	C	T	1: 85,547,772 (GRCm39)		probably benign	Het
Sp8	T	C	12: 118,812,751 (GRCm39)	V202A	possibly damaging	Het
Spata13	T	C	14: 60,946,908 (GRCm39)	V652A	probably damaging	Het
Stpg2	A	T	3: 139,023,162 (GRCm39)	T393S	probably benign	Het
Tagap	T	C	17: 8,150,299 (GRCm39)	M228T	probably damaging	Het
Tagap	A	G	17: 8,152,377 (GRCm39)	T521A	probably benign	Het
Tas2r123	T	G	6: 132,824,528 (GRCm39)	S142A	probably damaging	Het
Tat	T	A	8: 110,718,261 (GRCm39)	S49T	probably benign	Het
Tfap4	G	T	16: 4,369,933 (GRCm39)	Q41K	possibly damaging	Het
Thbs2	T	C	17: 14,906,075 (GRCm39)	N275S	probably benign	Het
Tnfsf14	T	A	17: 57,497,867 (GRCm39)	R122W	probably damaging	Het
Tnrc6a	T	C	7: 122,792,140 (GRCm39)	V1886A	possibly damaging	Het
Trim56	G	A	5: 137,143,252 (GRCm39)	A88V	probably damaging	Het
Trio	A	G	15: 27,841,842 (GRCm39)	Y1081H	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ube2o	G	A	11: 116,432,320 (GRCm39)	T882I	probably benign	Het
Upk3a	A	G	15: 84,904,815 (GRCm39)	T188A	possibly damaging	Het
Vmn1r79	A	C	7: 11,910,358 (GRCm39)	D80A	probably damaging	Het
Wls	C	A	3: 159,617,450 (GRCm39)	T375K	probably benign	Het
Wnt5a	T	C	14: 28,233,835 (GRCm39)	M1T	probably null	Het
Zcchc4	A	G	5: 52,953,932 (GRCm39)	E204G	probably damaging	Het
Zfp513	G	A	5: 31,357,678 (GRCm39)	P232S	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
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
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'- GCAAGCTCAATCCAGGTTAGC -3'
(R):5'- CTTGGATGGTCTGAAGCTCG -3'

Sequencing Primer
(F):5'- CTCTGGTTGGGGCAAGCTAAC -3'
(R):5'- TCTGAAGCTCGTCGGACTCTG -3'

Posted On

2014-06-23