Mutagenetix > Incidental Mutation

Incidental Mutation 'R1659:Omg'

186607

Institutional Source

Beutler Lab

Gene Symbol

Omg

Ensembl Gene

ENSMUSG00000049612

Gene Name

oligodendrocyte myelin glycoprotein

Synonyms

MMRRC Submission

039695-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1659 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79391808-79394908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79393726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 44 (C44Y)

Ref Sequence

ENSEMBL: ENSMUSP00000132918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071325] [ENSMUST00000108251] [ENSMUST00000164465]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071325

SMART Domains

Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716

Domain	Start	End	E-Value	Type
RasGAP	1189	1559	2.56e-151	SMART
SEC14	1585	1737	2.36e-11	SMART
low complexity region	2619	2629	N/A	INTRINSIC
low complexity region	2750	2763	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108251

SMART Domains

Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716

Domain	Start	End	E-Value	Type
RasGAP	1189	1538	1.23e-153	SMART
SEC14	1564	1716	2.36e-11	SMART
low complexity region	2598	2608	N/A	INTRINSIC
low complexity region	2729	2742	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164465
AA Change: C44Y

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000132918
Gene: ENSMUSG00000049612
AA Change: C44Y

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
LRRNT	28	62	5.02e-10	SMART
LRR	80	103	1.07e0	SMART
LRR_TYP	148	171	1.18e-2	SMART
LRR	172	192	2.33e2	SMART
LRR_TYP	193	216	4.01e-5	SMART
low complexity region	427	442	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit improved recovery from spinal cord injuries when on a mixed 129S4/SvJae C57BL/6 background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	A	5: 4,114,633 (GRCm39)	L87Q	probably damaging	Het
Atp13a5	T	G	16: 29,112,251 (GRCm39)	D630A	probably benign	Het
Brd7	G	T	8: 89,060,420 (GRCm39)	P568T	probably damaging	Het
Ccdc141	A	G	2: 76,885,027 (GRCm39)	L538P	probably benign	Het
Cd177	G	T	7: 24,445,562 (GRCm39)	T627K	probably damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdhr2	T	A	13: 54,867,574 (GRCm39)	I468N	probably damaging	Het
Cdk14	T	C	5: 4,999,571 (GRCm39)	T338A	probably benign	Het
Celsr2	G	A	3: 108,321,411 (GRCm39)	T467I	probably benign	Het
Chrd	A	G	16: 20,554,581 (GRCm39)	E380G	probably damaging	Het
Cnnm4	C	A	1: 36,511,246 (GRCm39)	T158N	probably benign	Het
Ddx51	T	A	5: 110,802,986 (GRCm39)	I254N	probably damaging	Het
Deptor	G	A	15: 55,081,670 (GRCm39)		probably null	Het
Dnah11	T	A	12: 118,084,459 (GRCm39)	H1215L	possibly damaging	Het
Dock1	A	G	7: 134,390,972 (GRCm39)	Y744C	probably damaging	Het
Dok7	C	T	5: 35,236,483 (GRCm39)	T257I	possibly damaging	Het
Eif4g1	T	C	16: 20,499,811 (GRCm39)	Y591H	probably damaging	Het
Fat3	T	C	9: 15,908,479 (GRCm39)	T2508A	possibly damaging	Het
Gm266	A	G	12: 111,451,723 (GRCm39)	V161A	probably damaging	Het
Golgb1	A	G	16: 36,707,979 (GRCm39)	I107V	probably benign	Het
Gpnmb	T	C	6: 49,024,786 (GRCm39)	F273L	probably damaging	Het
Hcn1	A	T	13: 118,112,610 (GRCm39)	Q858L	probably damaging	Het
Hcrtr1	G	T	4: 130,029,129 (GRCm39)	Y224*	probably null	Het
Hepacam	A	G	9: 37,291,954 (GRCm39)	D94G	probably benign	Het
Herc2	T	A	7: 55,784,853 (GRCm39)	H1432Q	probably benign	Het
Il20	T	A	1: 130,836,086 (GRCm39)		probably null	Het
Itga10	A	G	3: 96,570,293 (GRCm39)	T1150A	probably damaging	Het
Itgax	C	T	7: 127,730,063 (GRCm39)	T73I	probably benign	Het
Kdm6b	T	A	11: 69,298,414 (GRCm39)	Q98L	possibly damaging	Het
Lrrc7	A	G	3: 157,867,045 (GRCm39)	W899R	probably damaging	Het
Meikin	C	A	11: 54,281,392 (GRCm39)	S154*	probably null	Het
Mrgprg	A	T	7: 143,318,288 (GRCm39)	S275T	possibly damaging	Het
Mstn	C	T	1: 53,103,236 (GRCm39)	R191*	probably null	Het
Neu3	A	G	7: 99,462,640 (GRCm39)	I361T	probably damaging	Het
Nrxn3	A	G	12: 90,299,165 (GRCm39)	D425G	probably damaging	Het
Nup205	T	A	6: 35,211,723 (GRCm39)	M1688K	probably benign	Het
Or1d2	A	T	11: 74,255,759 (GRCm39)	Q88L	probably benign	Het
Or52n3	A	G	7: 104,530,387 (GRCm39)	M158V	probably benign	Het
Pcdh8	T	C	14: 80,005,574 (GRCm39)	D938G	probably damaging	Het
Pp2d1	T	C	17: 53,822,406 (GRCm39)	D220G	possibly damaging	Het
Prune2	C	T	19: 17,098,015 (GRCm39)	T1173I	possibly damaging	Het
Rbfox3	T	C	11: 118,384,981 (GRCm39)	T359A	probably damaging	Het
Rhpn2	A	G	7: 35,076,466 (GRCm39)	Y339C	probably damaging	Het
Rpl7a-ps3	A	G	15: 36,308,309 (GRCm39)		noncoding transcript	Het
Sars1	T	C	3: 108,336,732 (GRCm39)	E217G	probably damaging	Het
Sec61a2	A	G	2: 5,891,345 (GRCm39)	F62S	possibly damaging	Het
Slc12a7	T	A	13: 73,938,790 (GRCm39)	I189N	probably damaging	Het
Slc5a10	G	A	11: 61,567,070 (GRCm39)	A375V	possibly damaging	Het
Srfbp1	C	T	18: 52,621,967 (GRCm39)	H343Y	possibly damaging	Het
Tbck	T	G	3: 132,440,116 (GRCm39)	I486M	probably damaging	Het
Thra	G	A	11: 98,647,805 (GRCm39)	A60T	probably damaging	Het
Thsd7a	T	A	6: 12,504,063 (GRCm39)	T364S	possibly damaging	Het
Ttc16	C	T	2: 32,652,547 (GRCm39)	D761N	probably benign	Het
Vwa7	T	C	17: 35,238,047 (GRCm39)	L216P	probably benign	Het
Ydjc	T	C	16: 16,965,703 (GRCm39)	V156A	possibly damaging	Het

Other mutations in Omg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Omg	APN	11	79,394,739 (GRCm39)	utr 5 prime	probably benign
IGL00850:Omg	APN	11	79,393,540 (GRCm39)	missense	possibly damaging	0.71
IGL01863:Omg	APN	11	79,393,050 (GRCm39)	missense	probably benign
IGL03034:Omg	APN	11	79,392,947 (GRCm39)	missense	possibly damaging	0.53
E0374:Omg	UTSW	11	79,393,775 (GRCm39)	missense	probably benign	0.16
R0125:Omg	UTSW	11	79,393,679 (GRCm39)	missense	possibly damaging	0.53
R0413:Omg	UTSW	11	79,393,661 (GRCm39)	missense	possibly damaging	0.73
R1636:Omg	UTSW	11	79,393,166 (GRCm39)	missense	probably benign	0.21
R1713:Omg	UTSW	11	79,393,679 (GRCm39)	missense	probably benign	0.03
R1882:Omg	UTSW	11	79,392,545 (GRCm39)	intron	probably benign
R3974:Omg	UTSW	11	79,393,224 (GRCm39)	missense	probably benign
R4668:Omg	UTSW	11	79,393,249 (GRCm39)	missense	probably damaging	0.98
R5560:Omg	UTSW	11	79,392,584 (GRCm39)	missense	possibly damaging	0.96
R6230:Omg	UTSW	11	79,393,784 (GRCm39)	missense	probably benign	0.03
R6803:Omg	UTSW	11	79,393,094 (GRCm39)	missense	possibly damaging	0.53
R6983:Omg	UTSW	11	79,392,764 (GRCm39)	missense	probably benign	0.00
R7557:Omg	UTSW	11	79,393,679 (GRCm39)	missense	possibly damaging	0.53
R7719:Omg	UTSW	11	79,393,059 (GRCm39)	missense	probably benign	0.33
R8014:Omg	UTSW	11	79,393,729 (GRCm39)	missense	possibly damaging	0.92
R8389:Omg	UTSW	11	79,393,001 (GRCm39)	missense	probably benign	0.01
R8425:Omg	UTSW	11	79,392,826 (GRCm39)	missense	possibly damaging	0.72
R8891:Omg	UTSW	11	79,393,829 (GRCm39)	nonsense	probably null
R9203:Omg	UTSW	11	79,393,051 (GRCm39)	missense	probably benign	0.00
Z1088:Omg	UTSW	11	79,393,146 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- TGTCCAAAGCTTGTTACTGCTGAGG -3'
(R):5'- ACTGACCCATGCAGATGCTGAGAG -3'

Sequencing Primer
(F):5'- CATCCAGGTATTTAAGGTTCCACTG -3'
(R):5'- AATGTCTTCCTGCCTGTTCA -3'

Posted On

2014-05-09