Mutagenetix > Incidental Mutation

Incidental Mutation 'R3177:Mag'

476043

Institutional Source

Beutler Lab

Gene Symbol

Mag

Ensembl Gene

ENSMUSG00000036634

Gene Name

myelin-associated glycoprotein

Synonyms

Gma, siglec-4a

MMRRC Submission

040615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3177 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30598601-30614298 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 30601073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139881 (fasta)

Gene Model

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

AlphaFold

P20917

Predicted Effect

probably null
Transcript: ENSMUST00000040548

SMART Domains

Protein: ENSMUSP00000041464
Gene: ENSMUSG00000036634

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 null
Transcript: ENSMUST00000187137

SMART Domains

Protein: ENSMUSP00000139564
Gene: ENSMUSG00000036634

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 null
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 null
Transcript: ENSMUST00000191081

SMART Domains

Protein: ENSMUSP00000139881
Gene: ENSMUSG00000036634

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

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

100% (21/21)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,020 (GRCm39)	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,802,663 (GRCm39)	N646S	probably damaging	Het
Adcy8	C	T	15: 64,571,008 (GRCm39)	G1242S	probably benign	Het
Ano9	T	A	7: 140,684,037 (GRCm39)	T543S	probably damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Btnl9	T	C	11: 49,060,503 (GRCm39)	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,240,002 (GRCm39)	S225T	probably benign	Het
Clca4b	T	C	3: 144,617,120 (GRCm39)	I843M	probably benign	Het
Cntn4	G	A	6: 106,414,925 (GRCm39)		probably null	Het
Cyb561	T	C	11: 105,826,613 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dgkb	G	A	12: 38,134,216 (GRCm39)	V41M	probably damaging	Het
Duox1	T	C	2: 122,170,597 (GRCm39)	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211 (GRCm39)		probably null	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Flg2	A	T	3: 93,122,195 (GRCm39)	Q1455L	unknown	Het
Frrs1	T	C	3: 116,692,873 (GRCm39)	F49S	probably damaging	Het
Gli3	A	T	13: 15,900,567 (GRCm39)	Q1318L	probably benign	Het
Gm5581	C	G	6: 131,143,928 (GRCm39)		noncoding transcript	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gm7104	A	T	12: 88,252,498 (GRCm39)		noncoding transcript	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,355,747 (GRCm39)	H46R	probably damaging	Het
Hao2	T	C	3: 98,787,644 (GRCm39)		probably benign	Het
Herc2	T	C	7: 55,803,176 (GRCm39)	V2175A	probably benign	Het
Hey1	T	C	3: 8,729,951 (GRCm39)	S169G	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hlf	T	C	11: 90,236,661 (GRCm39)	K199E	probably damaging	Het
Hpgd	C	A	8: 56,751,448 (GRCm39)	A92E	probably damaging	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Kif2a	A	G	13: 107,113,264 (GRCm39)	I455T	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,798,637 (GRCm39)	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,583,475 (GRCm39)	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,666,273 (GRCm39)		probably null	Het
Mdh1b	G	A	1: 63,750,690 (GRCm39)	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,314,650 (GRCm39)	T282I	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or4c1	C	T	2: 89,133,562 (GRCm39)	V125M	possibly damaging	Het
Or52k2	T	C	7: 102,253,783 (GRCm39)	V74A	possibly damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Parp9	T	C	16: 35,768,578 (GRCm39)	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,101,703 (GRCm39)	F963L	probably damaging	Het
Pwp1	C	T	10: 85,717,943 (GRCm39)	L294F	probably benign	Het
Radil	A	G	5: 142,492,611 (GRCm39)	L339P	probably damaging	Het
Raver1	G	A	9: 20,990,573 (GRCm39)	P316S	possibly damaging	Het
Rell1	A	G	5: 64,084,330 (GRCm39)		probably null	Het
Rxrg	A	G	1: 167,463,269 (GRCm39)	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Spata7	A	G	12: 98,603,857 (GRCm39)	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Unc13a	A	C	8: 72,082,339 (GRCm39)	C1642G	probably benign	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Wrn	A	G	8: 33,807,582 (GRCm39)	M292T	probably damaging	Het
Zfp423	A	G	8: 88,508,959 (GRCm39)	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,234,345 (GRCm39)	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	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
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
R4952:Mag	UTSW	7	30,608,581 (GRCm39)	nonsense	probably null
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

Posted On

2017-05-11