Mutagenetix > Incidental Mutation

Incidental Mutation 'R4952:Mag'

382056

Institutional Source

Beutler Lab

Gene Symbol

Mag

Ensembl Gene

ENSMUSG00000036634

Gene Name

myelin-associated glycoprotein

Synonyms

Gma, siglec-4a

MMRRC Submission

042549-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30598601-30614298 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 30608581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 178 (E178*)

Ref Sequence

ENSEMBL: ENSMUSP00000139881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040548] [ENSMUST00000187137] [ENSMUST00000188569] [ENSMUST00000190638] [ENSMUST00000190950] [ENSMUST00000191081]

AlphaFold

P20917

Predicted Effect

probably null
Transcript: ENSMUST00000040548
AA Change: E178*

SMART Domains

Protein: ENSMUSP00000041464
Gene: ENSMUSG00000036634
AA Change: E178*

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	27	135	1.67e0	SMART
IG	144	237	4.38e0	SMART
IGc2	252	312	5.74e-13	SMART
IGc2	338	399	7.64e-9	SMART
transmembrane domain	511	533	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186422

Predicted Effect

probably null
Transcript: ENSMUST00000187137
AA Change: E178*

SMART Domains

Protein: ENSMUSP00000139564
Gene: ENSMUSG00000036634
AA Change: E178*

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	27	135	1.67e0	SMART
IG	144	237	4.38e0	SMART
IGc2	252	312	5.74e-13	SMART
IGc2	338	399	7.64e-9	SMART
transmembrane domain	511	533	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188569

SMART Domains

Protein: ENSMUSP00000140526
Gene: ENSMUSG00000036634

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	27	135	1.67e0	SMART
Blast:IG	152	195	1e-19	BLAST
IGc2	210	270	5.74e-13	SMART
IGc2	296	357	7.64e-9	SMART
transmembrane domain	469	491	N/A	INTRINSIC
low complexity region	535	549	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190638

SMART Domains

Protein: ENSMUSP00000140578
Gene: ENSMUSG00000036634

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	27	135	6.7e-3	SMART
Blast:IG	144	168	5e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000190950

SMART Domains

Protein: ENSMUSP00000139861
Gene: ENSMUSG00000036634

Domain	Start	End	E-Value	Type
Blast:CLECT	1	64	3e-39	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000191081
AA Change: E178*

SMART Domains

Protein: ENSMUSP00000139881
Gene: ENSMUSG00000036634
AA Change: E178*

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	27	135	6.7e-3	SMART
IG	144	237	1.8e-2	SMART
IGc2	252	312	2.4e-15	SMART
IGc2	338	399	3e-11	SMART
transmembrane domain	511	533	N/A	INTRINSIC
low complexity region	577	591	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191486

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.0%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: This gene encodes a type I membrane protein and member of the immunoglobulin-like superfamily. It is expressed in myelinating glial cells, including oligodendrocytes of the central nervous system and Schwann cells of the peripheral nervous system. Mice lacking the encoded protein express abundant myelin, but suffer long-term axon degeneration, altered distribution of channels and adhesion molecules at nodes of Ranvier, and altered axon cytoskeletal structure. While not required for myelination, the encoded protein enhances axon-myelin stability, helps to structure nodes of Ranvier, and regulates the axon cytoskeleton. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit delayed CNS myelination, late myelin degeneration in peripheral nerves, hypomyelination of optic nerves, and subtle intention tremors. [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
4930522L14Rik	A	G	5: 109,887,063 (GRCm39)		probably null	Het
4933421I07Rik	T	C	7: 42,097,083 (GRCm39)	Y76C	possibly damaging	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Ak9	A	G	10: 41,296,585 (GRCm39)	M1444V	probably benign	Het
Amfr	A	G	8: 94,699,787 (GRCm39)		probably benign	Het
Ankef1	A	G	2: 136,392,449 (GRCm39)	E546G	probably damaging	Het
Ankrd24	A	G	10: 81,482,982 (GRCm39)	M977V	probably benign	Het
Ap3m1	A	T	14: 21,090,134 (GRCm39)	S5T	probably benign	Het
Aqr	C	A	2: 113,940,418 (GRCm39)	D1243Y	probably damaging	Het
Arhgef2	T	C	3: 88,549,769 (GRCm39)	L591P	probably damaging	Het
Arid4a	C	A	12: 71,070,299 (GRCm39)	T70K	possibly damaging	Het
Asphd1	C	T	7: 126,547,857 (GRCm39)	A149T	probably benign	Het
Avpr1a	T	A	10: 122,285,659 (GRCm39)	M317K	probably damaging	Het
Birc2	T	C	9: 7,836,741 (GRCm39)	I109V	probably damaging	Het
Catsperd	A	G	17: 56,939,303 (GRCm39)	Y44C	probably damaging	Het
Crygb	T	G	1: 65,121,268 (GRCm39)	S20R	probably benign	Het
Cyp3a25	T	C	5: 145,928,334 (GRCm39)	N237S	probably benign	Het
Dkk3	C	T	7: 111,717,558 (GRCm39)	A304T	probably benign	Het
Dst	T	C	1: 34,310,503 (GRCm39)	L4101S	probably damaging	Het
Dysf	A	G	6: 84,126,968 (GRCm39)	N1407S	possibly damaging	Het
Epb41	A	G	4: 131,727,581 (GRCm39)	V265A	probably damaging	Het
Faim2	C	T	15: 99,419,109 (GRCm39)	E75K	possibly damaging	Het
Fam237b	T	A	5: 5,625,387 (GRCm39)	F28I	probably benign	Het
Fbn1	T	A	2: 125,159,454 (GRCm39)	D2208V	probably damaging	Het
Fbxo28	A	G	1: 182,153,950 (GRCm39)	S129P	probably damaging	Het
Fbxw14	T	A	9: 109,105,269 (GRCm39)	I299L	probably benign	Het
Fras1	C	T	5: 96,795,357 (GRCm39)	A1050V	probably benign	Het
Fyb1	C	A	15: 6,668,292 (GRCm39)	T495K	probably damaging	Het
Ghdc	A	T	11: 100,659,977 (GRCm39)	W257R	probably damaging	Het
Gm10719	T	C	9: 3,018,962 (GRCm39)	L69S	probably benign	Het
Gm12250	G	T	11: 58,079,210 (GRCm39)		noncoding transcript	Het
Gm4846	A	T	1: 166,311,503 (GRCm39)	F452Y	probably damaging	Het
Gpbp1	T	C	13: 111,577,284 (GRCm39)	D202G	probably damaging	Het
Gpd2	C	A	2: 57,197,025 (GRCm39)	Y193*	probably null	Het
Grhl2	G	T	15: 37,287,493 (GRCm39)	R229L	probably benign	Het
Gtf2a1	A	G	12: 91,542,523 (GRCm39)	F59L	possibly damaging	Het
Heatr1	G	T	13: 12,425,480 (GRCm39)	W640L	probably benign	Het
Kalrn	A	T	16: 34,177,785 (GRCm39)		probably null	Het
Keap1	T	C	9: 21,148,582 (GRCm39)	T142A	probably damaging	Het
Kpna2	G	A	11: 106,882,061 (GRCm39)	T255M	probably damaging	Het
Kpna3	A	G	14: 61,607,838 (GRCm39)	C456R	probably damaging	Het
Lama1	G	A	17: 68,074,561 (GRCm39)		probably null	Het
Lrrc37	T	C	11: 103,505,033 (GRCm39)	T2312A	possibly damaging	Het
Map3k13	A	G	16: 21,729,769 (GRCm39)	I467V	probably benign	Het
Mga	A	G	2: 119,733,782 (GRCm39)	E210G	probably damaging	Het
Msi2	C	T	11: 88,257,610 (GRCm39)		probably null	Het
Naa16	A	T	14: 79,582,525 (GRCm39)	D521E	probably damaging	Het
Nav2	C	T	7: 48,954,288 (GRCm39)		probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nek5	T	C	8: 22,586,815 (GRCm39)	K332R	probably benign	Het
Nek5	T	A	8: 22,569,104 (GRCm39)	I573L	probably benign	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Odad1	A	C	7: 45,591,615 (GRCm39)	E293A	probably damaging	Het
Or2w1	G	A	13: 21,317,514 (GRCm39)	V190I	probably benign	Het
Or5v1b	A	T	17: 37,841,641 (GRCm39)	T258S	possibly damaging	Het
Or6c204	T	A	10: 129,022,466 (GRCm39)	T275S	probably benign	Het
Or8b12b	T	A	9: 37,684,360 (GRCm39)	M135K	probably damaging	Het
Orai1	T	G	5: 123,167,313 (GRCm39)	V162G	probably damaging	Het
P2rx6	T	C	16: 17,385,308 (GRCm39)	S134P	probably damaging	Het
Pappa2	G	A	1: 158,684,706 (GRCm39)	T811I	probably null	Het
Pcdhga10	T	C	18: 37,880,213 (GRCm39)		probably benign	Het
Pex16	C	T	2: 92,209,405 (GRCm39)	R241*	probably null	Het
Plxnb1	T	C	9: 108,943,904 (GRCm39)	F1969L	probably damaging	Het
Postn	A	G	3: 54,297,736 (GRCm39)		probably benign	Het
Prdm15	A	T	16: 97,607,277 (GRCm39)	I752N	probably damaging	Het
Rasgef1c	A	T	11: 49,870,339 (GRCm39)	K468M	probably damaging	Het
Rbfox1	A	G	16: 7,094,952 (GRCm39)	S111G	probably benign	Het
Rbm28	T	C	6: 29,138,597 (GRCm39)	D405G	probably damaging	Het
Rell1	A	G	5: 64,097,010 (GRCm39)		probably benign	Het
Rfx3	A	G	19: 27,808,072 (GRCm39)	S224P	probably damaging	Het
Scarb2	A	T	5: 92,602,636 (GRCm39)	I260K	probably damaging	Het
Septin4	A	G	11: 87,458,598 (GRCm39)	N324S	probably benign	Het
Slc15a4	A	G	5: 127,680,901 (GRCm39)	F72L	probably damaging	Het
Spg7	C	A	8: 123,816,910 (GRCm39)	R534S	probably damaging	Het
Stoml2	T	C	4: 43,029,589 (GRCm39)	T164A	probably benign	Het
Syt11	C	T	3: 88,669,590 (GRCm39)	G101S	possibly damaging	Het
Traj12	A	G	14: 54,444,013 (GRCm39)		probably benign	Het
Traj7	A	T	14: 54,448,981 (GRCm39)		probably benign	Het
Tysnd1	C	T	10: 61,537,855 (GRCm39)	T175I	possibly damaging	Het
Usp48	T	G	4: 137,334,004 (GRCm39)	Y139*	probably null	Het
Vmn2r72	A	G	7: 85,400,317 (GRCm39)	L244P	probably benign	Het
Wasf1	C	A	10: 40,812,186 (GRCm39)	P325Q	unknown	Het
Zc3h18	T	A	8: 123,137,639 (GRCm39)		probably benign	Het
Zfp712	A	G	13: 67,188,905 (GRCm39)	S541P	possibly damaging	Het

Other mutations in Mag

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01716:Mag	APN	7	30,599,812 (GRCm39)	missense	probably benign	0.00
IGL02036:Mag	APN	7	30,607,877 (GRCm39)	missense	probably damaging	0.97
IGL03263:Mag	APN	7	30,598,953 (GRCm39)	splice site	probably null
regie	UTSW	7	30,600,154 (GRCm39)	missense	probably damaging	0.98
R0005:Mag	UTSW	7	30,607,779 (GRCm39)	splice site	probably benign
R0403:Mag	UTSW	7	30,606,405 (GRCm39)	missense	probably damaging	1.00
R1590:Mag	UTSW	7	30,601,277 (GRCm39)	missense	probably damaging	0.99
R1874:Mag	UTSW	7	30,608,476 (GRCm39)	missense	probably benign	0.13
R2170:Mag	UTSW	7	30,608,412 (GRCm39)	nonsense	probably null
R2192:Mag	UTSW	7	30,600,066 (GRCm39)	nonsense	probably null
R3176:Mag	UTSW	7	30,601,073 (GRCm39)	critical splice donor site	probably null
R3177:Mag	UTSW	7	30,601,073 (GRCm39)	critical splice donor site	probably null
R3276:Mag	UTSW	7	30,601,073 (GRCm39)	critical splice donor site	probably null
R3277:Mag	UTSW	7	30,601,073 (GRCm39)	critical splice donor site	probably null
R4540:Mag	UTSW	7	30,600,154 (GRCm39)	missense	probably damaging	0.98
R4635:Mag	UTSW	7	30,606,348 (GRCm39)	missense	probably damaging	1.00
R4704:Mag	UTSW	7	30,608,598 (GRCm39)	missense	probably damaging	1.00
R4891:Mag	UTSW	7	30,599,793 (GRCm39)	missense	possibly damaging	0.77
R4940:Mag	UTSW	7	30,608,625 (GRCm39)	missense	probably damaging	1.00
R6301:Mag	UTSW	7	30,600,104 (GRCm39)	missense	probably damaging	1.00
R6441:Mag	UTSW	7	30,606,508 (GRCm39)	missense	possibly damaging	0.65
R6951:Mag	UTSW	7	30,610,858 (GRCm39)	missense	possibly damaging	0.89
R7562:Mag	UTSW	7	30,608,559 (GRCm39)	missense	possibly damaging	0.83
R8312:Mag	UTSW	7	30,610,894 (GRCm39)	missense	probably damaging	1.00
R9318:Mag	UTSW	7	30,599,793 (GRCm39)	missense	possibly damaging	0.77
X0024:Mag	UTSW	7	30,606,496 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGACGTCCAAACTGGCG -3'
(R):5'- CTGGGCATTCAGAGGGATAAAGTC -3'

Sequencing Primer
(F):5'- GTAACCCTCGAACTGCAAGGTG -3'
(R):5'- ACAGGTGGGCCAGACGAC -3'

Posted On

2016-04-27