Mutagenetix > Incidental Mutation

Incidental Mutation 'R4940:Mag'

383002

Institutional Source

Beutler Lab

Gene Symbol

Mag

Ensembl Gene

ENSMUSG00000036634

Gene Name

myelin-associated glycoprotein

Synonyms

Gma, siglec-4a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30598601-30614298 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30608625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 163 (D163G)

Ref Sequence

ENSEMBL: ENSMUSP00000139881 (fasta)

Gene Model

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

AlphaFold

P20917

Predicted Effect

probably damaging
Transcript: ENSMUST00000040548
AA Change: D163G

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

SMART Domains

Protein: ENSMUSP00000041464
Gene: ENSMUSG00000036634
AA Change: D163G

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 damaging
Transcript: ENSMUST00000187137
AA Change: D163G

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

SMART Domains

Protein: ENSMUSP00000139564
Gene: ENSMUSG00000036634
AA Change: D163G

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 damaging
Transcript: ENSMUST00000190638
AA Change: D163G

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

SMART Domains

Protein: ENSMUSP00000140578
Gene: ENSMUSG00000036634
AA Change: D163G

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 damaging
Transcript: ENSMUST00000191081
AA Change: D163G

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

SMART Domains

Protein: ENSMUSP00000139881
Gene: ENSMUSG00000036634
AA Change: D163G

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,828,782 (GRCm39)	T240A	probably benign	Het
Abca15	T	C	7: 119,931,917 (GRCm39)	Y57H	probably benign	Het
Adgrf4	A	G	17: 42,977,420 (GRCm39)	I641T	possibly damaging	Het
Ankrd11	A	G	8: 123,616,560 (GRCm39)	Y2410H	probably damaging	Het
Apbb2	C	A	5: 66,609,604 (GRCm39)	L14F	probably null	Het
Arhgdia	T	C	11: 120,470,061 (GRCm39)	D204G	probably damaging	Het
Armh4	A	T	14: 50,010,939 (GRCm39)	M256K	probably benign	Het
Catsperd	A	T	17: 56,969,736 (GRCm39)	Y610F	possibly damaging	Het
Cblb	T	A	16: 51,853,466 (GRCm39)	D27E	probably damaging	Het
Ccdc180	A	T	4: 45,917,453 (GRCm39)	I893F	probably damaging	Het
Ccdc180	A	G	4: 45,917,508 (GRCm39)	H911R	probably damaging	Het
Cdh23	T	A	10: 60,143,714 (GRCm39)	I2966F	probably damaging	Het
Cfap299	A	G	5: 98,885,495 (GRCm39)	H134R	possibly damaging	Het
Chat	G	A	14: 32,141,062 (GRCm39)	P445L	probably damaging	Het
Chdh	G	T	14: 29,754,809 (GRCm39)	R273L	possibly damaging	Het
Clic3	T	C	2: 25,347,929 (GRCm39)	V72A	probably benign	Het
Cyp2d12	T	A	15: 82,442,251 (GRCm39)	D244E	probably benign	Het
Ddr1	T	A	17: 36,001,022 (GRCm39)	D241V	probably damaging	Het
Dock7	T	A	4: 98,908,314 (GRCm39)	K605N	probably damaging	Het
Dsg2	T	A	18: 20,712,487 (GRCm39)	F164I	probably damaging	Het
Dstyk	T	A	1: 132,380,844 (GRCm39)	N446K	probably damaging	Het
Epb42	A	T	2: 120,864,932 (GRCm39)	L53Q	probably damaging	Het
Extl2	G	C	3: 115,820,841 (GRCm39)	K229N	probably benign	Het
Frmd4b	T	A	6: 97,275,051 (GRCm39)	S617C	probably damaging	Het
Fscb	C	T	12: 64,520,588 (GRCm39)	V293I	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gm4978	A	C	9: 69,358,154 (GRCm39)		probably benign	Het
Gm6729	A	G	10: 86,376,252 (GRCm39)		noncoding transcript	Het
Gnat2	A	C	3: 108,007,932 (GRCm39)	N293T	probably benign	Het
Herpud1	T	C	8: 95,117,470 (GRCm39)	I142T	probably benign	Het
Irak2	G	A	6: 113,670,691 (GRCm39)	V536I	probably benign	Het
Kcnu1	A	T	8: 26,387,890 (GRCm39)		probably null	Het
Kdm4a	A	G	4: 118,018,951 (GRCm39)	S422P	probably benign	Het
Lair1	T	A	7: 4,031,948 (GRCm39)	D53V	probably benign	Het
Lhx1	G	T	11: 84,410,735 (GRCm39)	Y196*	probably null	Het
Lrrc37a	G	A	11: 103,388,438 (GRCm39)	T2329I	unknown	Het
Magi3	A	G	3: 103,958,708 (GRCm39)	V459A	probably damaging	Het
Med13	A	G	11: 86,178,944 (GRCm39)	Y1451H	probably damaging	Het
Megf8	T	A	7: 25,060,131 (GRCm39)	C2341S	probably damaging	Het
Mppe1	A	G	18: 67,361,095 (GRCm39)	C221R	probably damaging	Het
Mtus1	T	A	8: 41,494,515 (GRCm39)	H39L	possibly damaging	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Nutm2	T	C	13: 50,628,909 (GRCm39)	C658R	possibly damaging	Het
Olfm1	T	C	2: 28,112,602 (GRCm39)	V239A	possibly damaging	Het
Pcnx1	C	T	12: 81,964,567 (GRCm39)	H245Y	possibly damaging	Het
Pgm3	A	G	9: 86,441,529 (GRCm39)	L356S	probably damaging	Het
Pik3r4	C	G	9: 105,546,193 (GRCm39)	H207D	probably benign	Het
Pkd1l1	T	C	11: 8,794,585 (GRCm39)	T1859A	probably benign	Het
Pon3	A	T	6: 5,221,625 (GRCm39)	V335E	possibly damaging	Het
Ppp4r3b	A	G	11: 29,161,740 (GRCm39)	T705A	probably benign	Het
Prmt7	T	C	8: 106,963,910 (GRCm39)	V268A	probably benign	Het
Psd	C	T	19: 46,310,856 (GRCm39)	G398R	probably damaging	Het
Pygl	A	G	12: 70,253,155 (GRCm39)	V188A	probably damaging	Het
Rnf13	T	A	3: 57,703,627 (GRCm39)	N110K	probably damaging	Het
Rnf170	C	T	8: 26,615,939 (GRCm39)	Q77*	probably null	Het
Rrp8	A	T	7: 105,383,284 (GRCm39)	Y327*	probably null	Het
Ruvbl2	T	C	7: 45,074,150 (GRCm39)	D228G	probably damaging	Het
Scgn	T	A	13: 24,173,807 (GRCm39)	T35S	probably benign	Het
Scyl3	C	T	1: 163,762,316 (GRCm39)	P74S	probably damaging	Het
Sec61b	T	G	4: 47,483,074 (GRCm39)	S123A	probably benign	Het
Sertad2	T	C	11: 20,597,899 (GRCm39)	S32P	possibly damaging	Het
Slc23a3	T	C	1: 75,110,447 (GRCm39)		probably null	Het
Sult2a2	T	G	7: 13,472,223 (GRCm39)	V140G	probably benign	Het
Tbc1d4	A	T	14: 101,744,667 (GRCm39)	S320T	probably benign	Het
Trabd2b	T	C	4: 114,266,141 (GRCm39)	Y52H	probably damaging	Het
Traf2	T	C	2: 25,420,300 (GRCm39)	E183G	probably null	Het
Trip10	G	T	17: 57,570,017 (GRCm39)	V561F	possibly damaging	Het
Ttc7	G	T	17: 87,614,386 (GRCm39)	V184F	probably benign	Het
Ubc	A	G	5: 125,463,293 (GRCm39)	V678A	probably benign	Het
Unk	A	G	11: 115,944,491 (GRCm39)	E414G	possibly damaging	Het
Usp42	T	C	5: 143,705,517 (GRCm39)	N365D	probably damaging	Het
Zbtb26	A	T	2: 37,326,781 (GRCm39)	I85K	probably damaging	Het
Zfhx2	A	T	14: 55,303,891 (GRCm39)	H1364Q	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
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

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

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

Posted On

2016-04-27