Mutagenetix > Incidental Mutation

Incidental Mutation 'R6230:Omg'

504628

Institutional Source

Beutler Lab

Gene Symbol

Omg

Ensembl Gene

ENSMUSG00000049612

Gene Name

oligodendrocyte myelin glycoprotein

Synonyms

MMRRC Submission

044359-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79391808-79394908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79393784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 25 (I25V)

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

probably benign
Transcript: ENSMUST00000164465
AA Change: I25V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000132918
Gene: ENSMUSG00000049612
AA Change: I25V

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.1%

Validation Efficiency

100% (49/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	T	C	2: 168,024,452 (GRCm39)	T948A	probably benign	Het
Arhgef12	T	C	9: 42,900,261 (GRCm39)	I871V	probably benign	Het
Atf1	T	C	15: 100,130,705 (GRCm39)	V25A	possibly damaging	Het
Atp23	G	A	10: 126,723,431 (GRCm39)	H224Y	probably benign	Het
Ccpg1	A	G	9: 72,919,638 (GRCm39)	T418A	probably benign	Het
Col27a1	T	C	4: 63,142,519 (GRCm39)	I69T	probably damaging	Het
Cspp1	T	C	1: 10,147,422 (GRCm39)	S328P	probably benign	Het
Cttnbp2nl	C	T	3: 104,918,655 (GRCm39)	E62K	probably damaging	Het
Cyp2c39	T	C	19: 39,525,246 (GRCm39)	F183S	probably damaging	Het
Dync2li1	T	C	17: 84,955,078 (GRCm39)	S246P	probably damaging	Het
Ext2	A	G	2: 93,592,965 (GRCm39)	I413T	probably damaging	Het
Fam174a	T	C	1: 95,241,951 (GRCm39)	V137A	probably damaging	Het
Flg	T	A	3: 93,186,782 (GRCm39)	V78E	probably damaging	Het
Fn3krp	C	A	11: 121,316,418 (GRCm39)	H111N	probably damaging	Het
Focad	T	C	4: 88,260,441 (GRCm39)	I899T	unknown	Het
Foxq1	T	C	13: 31,743,491 (GRCm39)	Y198H	probably damaging	Het
Gm21060	A	T	19: 61,285,449 (GRCm39)	M20K	probably benign	Het
Kif16b	A	T	2: 142,691,832 (GRCm39)	N217K	probably damaging	Het
Klkb1	A	G	8: 45,736,252 (GRCm39)	Y162H	probably benign	Het
Kntc1	T	A	5: 123,927,072 (GRCm39)		probably null	Het
Madd	C	T	2: 90,973,866 (GRCm39)		probably null	Het
Mast2	T	A	4: 116,183,295 (GRCm39)	H258L	probably damaging	Het
Musk	T	C	4: 58,367,576 (GRCm39)	V598A	probably damaging	Het
Nexn	T	A	3: 151,943,912 (GRCm39)	Q539L	probably damaging	Het
Nf2	T	C	11: 4,758,262 (GRCm39)	K130E	possibly damaging	Het
Nlrp14	A	T	7: 106,781,024 (GRCm39)	I74F	probably benign	Het
Or56b35	A	G	7: 104,963,289 (GRCm39)	H26R	possibly damaging	Het
Or8b54	T	G	9: 38,687,073 (GRCm39)	I174S	possibly damaging	Het
Parp4	A	G	14: 56,844,990 (GRCm39)	D627G	probably damaging	Het
Pdia6	A	G	12: 17,327,214 (GRCm39)	E126G	probably benign	Het
Ppp1r2	T	A	16: 31,079,418 (GRCm39)	D127V	possibly damaging	Het
Pramel17	T	A	4: 101,694,411 (GRCm39)	E157D	probably damaging	Het
Rgs22	A	G	15: 36,100,176 (GRCm39)	S304P	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Ryr2	T	C	13: 11,674,993 (GRCm39)	Y3378C	probably damaging	Het
Shoc1	T	C	4: 59,099,345 (GRCm39)	N116D	probably benign	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,917,248 (GRCm39)		probably benign	Het
Smurf2	T	C	11: 106,759,330 (GRCm39)		probably null	Het
Tanc1	T	C	2: 59,672,375 (GRCm39)	F1348L	probably damaging	Het
Tars3	A	T	7: 65,336,184 (GRCm39)		probably null	Het
Tmem213	A	T	6: 38,091,551 (GRCm39)	S52C	probably damaging	Het
Ttn	T	C	2: 76,749,778 (GRCm39)	D3757G	probably benign	Het
Usp16	C	T	16: 87,261,686 (GRCm39)	P101S	possibly damaging	Het
Usp19	G	A	9: 108,379,140 (GRCm39)	M1318I	probably damaging	Het
Vmn1r75	G	A	7: 11,614,966 (GRCm39)	A233T	probably damaging	Het
Vsir	A	T	10: 60,193,857 (GRCm39)	N107Y	probably damaging	Het
Zfp160	T	C	17: 21,246,707 (GRCm39)	V419A	probably benign	Het
Zfp808	A	T	13: 62,320,136 (GRCm39)	H455L	probably benign	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
R1659:Omg	UTSW	11	79,393,726 (GRCm39)	missense	possibly damaging	0.86
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
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'- AGCAGGCAGACTTTCAAGC -3'
(R):5'- GGACTCAACAACAAGGAGGTTTATTG -3'

Sequencing Primer
(F):5'- AGGCAGACTTTCAAGCCTGTTG -3'
(R):5'- GAAAATTTTGCCGAATGCTAACTGAC -3'

Posted On

2018-02-28