Mutagenetix > Incidental Mutation

Incidental Mutation 'R4704:Mag'

356291

Institutional Source

Beutler Lab

Gene Symbol

Mag

Ensembl Gene

ENSMUSG00000036634

Gene Name

myelin-associated glycoprotein

Synonyms

Gma, siglec-4a

MMRRC Submission

041952-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30598601-30614298 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30608598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 172 (L172Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139564 (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: L172Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041464
Gene: ENSMUSG00000036634
AA Change: L172Q

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: L172Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139564
Gene: ENSMUSG00000036634
AA Change: L172Q

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 damaging
Transcript: ENSMUST00000191081
AA Change: L172Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139881
Gene: ENSMUSG00000036634
AA Change: L172Q

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

0.6255

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (89/92)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,959,259 (GRCm39)	M147K	probably damaging	Het
Abca13	A	G	11: 9,226,990 (GRCm39)	D582G	possibly damaging	Het
Abca2	T	C	2: 25,333,424 (GRCm39)	L1683P	probably damaging	Het
Adam39	A	G	8: 41,278,833 (GRCm39)	H408R	probably benign	Het
Adcy4	A	G	14: 56,012,482 (GRCm39)	S554P	possibly damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Ahnak	T	G	19: 8,989,622 (GRCm39)		probably benign	Het
Alkal2	T	A	12: 30,937,195 (GRCm39)	S109R	probably damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Arpc3	A	G	5: 122,538,471 (GRCm39)	M1V	probably null	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Ascc3	A	G	10: 50,535,110 (GRCm39)	I668V	probably benign	Het
Bdnf	T	A	2: 109,554,037 (GRCm39)	M137K	possibly damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Cds2	T	A	2: 132,142,522 (GRCm39)	Y239*	probably null	Het
Cpped1	G	A	16: 11,703,493 (GRCm39)		probably benign	Het
Ctu2	G	A	8: 123,206,042 (GRCm39)	R261Q	probably damaging	Het
Cux1	A	G	5: 136,278,055 (GRCm39)	V645A	probably benign	Het
Cyp4f13	A	G	17: 33,144,709 (GRCm39)	C401R	probably damaging	Het
Dpt	T	G	1: 164,646,518 (GRCm39)	Y162*	probably null	Het
Ednra	A	G	8: 78,394,592 (GRCm39)		probably benign	Het
Eepd1	A	G	9: 25,394,122 (GRCm39)	T129A	probably benign	Het
Eif2s1	A	G	12: 78,923,944 (GRCm39)	T134A	probably benign	Het
Eloa	A	G	4: 135,738,525 (GRCm39)	V145A	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Eng	T	C	2: 32,568,924 (GRCm39)	S484P	probably benign	Het
Eogt	A	T	6: 97,090,813 (GRCm39)	V442E	probably damaging	Het
Fam185a	C	T	5: 21,685,471 (GRCm39)		probably benign	Het
Gm4922	C	T	10: 18,660,567 (GRCm39)	V52I	probably benign	Het
Gnao1	A	G	8: 94,538,004 (GRCm39)	E14G	probably benign	Het
Gpr75	C	A	11: 30,841,110 (GRCm39)	A5D	probably benign	Het
Hbq1b	T	A	11: 32,237,448 (GRCm39)		probably benign	Het
Hdac7	G	A	15: 97,694,097 (GRCm39)	T724M	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,781 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kifc2	T	C	15: 76,547,177 (GRCm39)		probably null	Het
Kmt2c	G	A	5: 25,519,025 (GRCm39)	Q2362*	probably null	Het
Kntc1	G	A	5: 123,949,496 (GRCm39)	E1956K	probably damaging	Het
Lama3	T	C	18: 12,686,280 (GRCm39)	V2781A	probably benign	Het
Lipt2	A	G	7: 99,809,534 (GRCm39)	E207G	probably damaging	Het
Map1b	A	T	13: 99,566,983 (GRCm39)	C1913S	unknown	Het
Mical3	A	G	6: 120,935,649 (GRCm39)	S1626P	probably benign	Het
Mslnl	G	T	17: 25,957,952 (GRCm39)	W65L	possibly damaging	Het
Muc20	G	T	16: 32,599,448 (GRCm39)	A3332S	possibly damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Nkx2-3	G	A	19: 43,601,123 (GRCm39)	E62K	probably damaging	Het
Or6c2	T	C	10: 129,362,171 (GRCm39)	L25P	possibly damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcna-ps2	T	A	19: 9,260,786 (GRCm39)	V15E	possibly damaging	Het
Plekhg3	G	T	12: 76,625,012 (GRCm39)	G1285W	probably damaging	Het
Pramel29	A	T	4: 143,935,162 (GRCm39)	I193N	probably damaging	Het
Procr	A	G	2: 155,596,258 (GRCm39)	S142G	probably damaging	Het
Ptpn3	A	T	4: 57,270,119 (GRCm39)	N14K	possibly damaging	Het
Rin1	C	A	19: 5,105,018 (GRCm39)	L693I	probably damaging	Het
Ripk4	C	A	16: 97,547,204 (GRCm39)	E290*	probably null	Het
Rnf213	A	G	11: 119,331,175 (GRCm39)	Y2128C	probably damaging	Het
Saal1	T	C	7: 46,349,164 (GRCm39)		probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Serpinf1	C	A	11: 75,301,867 (GRCm39)	A263S	probably damaging	Het
Sgo2b	A	T	8: 64,380,824 (GRCm39)	D669E	probably damaging	Het
Slc30a9	T	C	5: 67,499,616 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,112,430 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,475,638 (GRCm39)	C4918Y	probably damaging	Het
Szt2	A	G	4: 118,251,026 (GRCm39)	Y361H	probably damaging	Het
Tbc1d12	T	A	19: 38,889,781 (GRCm39)	W404R	probably damaging	Het
Tcf20	T	C	15: 82,735,928 (GRCm39)	E1841G	possibly damaging	Het
Tep1	T	C	14: 51,074,530 (GRCm39)	T1832A	probably benign	Het
Tmem132e	G	A	11: 82,334,357 (GRCm39)	A623T	probably damaging	Het
Tmem201	A	T	4: 149,811,774 (GRCm39)	F357Y	possibly damaging	Het
Trappc13	T	G	13: 104,303,329 (GRCm39)		probably benign	Het
Trav6-5	C	T	14: 53,728,883 (GRCm39)	Q47*	probably null	Het
Ubxn1	T	A	19: 8,849,399 (GRCm39)	D47E	probably benign	Het
Vmn2r45	G	T	7: 8,486,535 (GRCm39)	S251*	probably null	Het
Wnk1	A	G	6: 119,942,705 (GRCm39)	L774S	possibly damaging	Het
Zfp189	T	C	4: 49,530,081 (GRCm39)	S395P	probably 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
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

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

Sequencing Primer
(F):5'- TTGACGTCCAAACTGGCGTAAC -3'
(R):5'- CAGGAGTGGAGCCGGAC -3'

Posted On

2015-10-21