Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02176:Mbp'

283120

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mbp

Ensembl Gene

ENSMUSG00000041607

Gene Name

myelin basic protein

Synonyms

golli-mbp, jve, Hmbpr

Accession Numbers

Essential gene?

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

Stock #

IGL02176

Quality Score

Status

Chromosome

Chromosomal Location

82493271-82603762 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82572670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 122 (E122G)

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 damaging
Transcript: ENSMUST00000047865
AA Change: E122G

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

SMART Domains

Protein: ENSMUSP00000046185
Gene: ENSMUSG00000041607
AA Change: E122G

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 damaging
Transcript: ENSMUST00000091789
AA Change: E122G

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

SMART Domains

Protein: ENSMUSP00000089393
Gene: ENSMUSG00000041607
AA Change: E122G

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

unknown
Transcript: ENSMUST00000142850
AA Change: E12G

SMART Domains

Protein: ENSMUSP00000115082
Gene: ENSMUSG00000041607
AA Change: E12G

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

Predicted Effect

unknown
Transcript: ENSMUST00000152071
AA Change: E25G

SMART Domains

Protein: ENSMUSP00000115409
Gene: ENSMUSG00000041607
AA Change: E25G

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

Predicted Effect

unknown
Transcript: ENSMUST00000123251
AA Change: E5G

SMART Domains

Protein: ENSMUSP00000121855
Gene: ENSMUSG00000041607
AA Change: E5G

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

Predicted Effect

unknown
Transcript: ENSMUST00000133193
AA Change: E10G

SMART Domains

Protein: ENSMUSP00000116019
Gene: ENSMUSG00000041607
AA Change: E10G

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

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	G	T	10: 20,846,815 (GRCm39)	R415L	probably benign	Het
Ankle1	C	A	8: 71,858,903 (GRCm39)	H45Q	probably damaging	Het
Anks1b	A	T	10: 89,878,530 (GRCm39)	H113L	probably damaging	Het
Arhgap33	T	A	7: 30,223,476 (GRCm39)	H851L	possibly damaging	Het
Atp12a	C	T	14: 56,624,636 (GRCm39)	S972L	probably damaging	Het
Atrip	T	C	9: 108,896,114 (GRCm39)	D301G	probably benign	Het
Bckdk	A	G	7: 127,505,545 (GRCm39)	T223A	probably benign	Het
C3	C	A	17: 57,533,337 (GRCm39)		probably benign	Het
C8g	A	G	2: 25,389,122 (GRCm39)	S154P	probably damaging	Het
Casz1	A	G	4: 149,019,076 (GRCm39)	D459G	probably damaging	Het
Cdca7	A	G	2: 72,314,988 (GRCm39)	T293A	probably damaging	Het
Cmya5	T	A	13: 93,226,658 (GRCm39)	D2810V	probably damaging	Het
CN725425	G	A	15: 91,130,024 (GRCm39)	V296I	probably benign	Het
Col17a1	A	G	19: 47,639,658 (GRCm39)	M1077T	probably benign	Het
Ddhd1	A	T	14: 45,854,057 (GRCm39)	H426Q	probably damaging	Het
Dpp6	C	T	5: 27,928,575 (GRCm39)	T799M	probably damaging	Het
Efs	C	T	14: 55,158,499 (GRCm39)	G53D	probably damaging	Het
Fer1l4	A	G	2: 155,890,371 (GRCm39)	V221A	probably benign	Het
Gabre	G	A	X: 71,318,259 (GRCm39)	Q17*	probably null	Het
Gpld1	T	C	13: 25,168,192 (GRCm39)		probably null	Het
Gpr107	T	A	2: 31,058,858 (GRCm39)	V116D	probably benign	Het
Huwe1	T	C	X: 150,686,964 (GRCm39)	S2283P	possibly damaging	Het
Ksr1	A	G	11: 78,911,617 (GRCm39)	S722P	probably benign	Het
Lmbrd2	A	G	15: 9,182,661 (GRCm39)	E532G	probably damaging	Het
Lrfn1	T	C	7: 28,158,111 (GRCm39)		probably benign	Het
Lrrc4c	A	G	2: 97,460,598 (GRCm39)	D408G	probably damaging	Het
Myo9a	T	A	9: 59,777,836 (GRCm39)	D1197E	probably benign	Het
Ncor1	A	T	11: 62,220,485 (GRCm39)		probably benign	Het
Or2y17	A	G	11: 49,232,133 (GRCm39)	Y258C	probably benign	Het
Pdcd1lg2	A	G	19: 29,414,732 (GRCm39)	E53G	probably benign	Het
Phex	G	T	X: 156,051,489 (GRCm39)	A469E	probably damaging	Het
Pigo	A	G	4: 43,019,352 (GRCm39)	S957P	probably benign	Het
Ppargc1b	T	A	18: 61,443,946 (GRCm39)	R406*	probably null	Het
Ppargc1b	C	A	18: 61,443,945 (GRCm39)	R422I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Thnsl1	G	T	2: 21,216,665 (GRCm39)	A140S	possibly damaging	Het
Tm9sf3	A	G	19: 41,235,076 (GRCm39)		probably benign	Het
Tma7	T	A	9: 108,911,153 (GRCm39)		probably benign	Het
Tmtc2	T	G	10: 105,184,354 (GRCm39)	S514R	probably benign	Het
Unc79	G	A	12: 102,965,006 (GRCm39)		probably null	Het
Wdr89	A	T	12: 75,679,897 (GRCm39)	I119N	probably damaging	Het
Wiz	C	A	17: 32,575,876 (GRCm39)	R843S	probably damaging	Het
Zfp275	T	A	X: 72,396,889 (GRCm39)	S12T	probably damaging	Het

Other mutations in Mbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16