Mutagenetix > Incidental Mutation

Incidental Mutation 'R6803:Omg'

533454

Institutional Source

Beutler Lab

Gene Symbol

Omg

Ensembl Gene

ENSMUSG00000049612

Gene Name

oligodendrocyte myelin glycoprotein

Synonyms

MMRRC Submission

044916-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79391808-79394908 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79393094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 255 (T255S)

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: T255S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132918
Gene: ENSMUSG00000049612
AA Change: T255S

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

Meta Mutation Damage Score

0.0686

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg9	A	C	9: 50,700,860 (GRCm39)	D210A	probably benign	Het
As3mt	T	G	19: 46,698,020 (GRCm39)	M120R	probably benign	Het
Baz1a	T	A	12: 54,988,340 (GRCm39)	S270C	probably null	Het
Car5a	A	C	8: 122,650,504 (GRCm39)		probably null	Het
Ccdc187	T	A	2: 26,179,791 (GRCm39)	T223S	probably benign	Het
Cel	T	C	2: 28,448,060 (GRCm39)	N322S	probably benign	Het
Chd6	T	C	2: 160,802,279 (GRCm39)	E2185G	possibly damaging	Het
Clcnkb	T	C	4: 141,132,639 (GRCm39)	T597A	probably benign	Het
Cntnap1	A	G	11: 101,068,060 (GRCm39)	Y24C	possibly damaging	Het
Cog3	A	G	14: 75,941,479 (GRCm39)	S817P	probably benign	Het
Col8a2	A	G	4: 126,205,793 (GRCm39)	Y601C	probably damaging	Het
Cpm	G	T	10: 117,512,002 (GRCm39)		probably null	Het
Cpt2	T	C	4: 107,769,861 (GRCm39)	N79S	probably damaging	Het
Dnah17	T	C	11: 118,016,198 (GRCm39)	T314A	probably benign	Het
Dnm1	C	A	2: 32,202,766 (GRCm39)	V46F	probably damaging	Het
Fat3	C	T	9: 15,908,083 (GRCm39)	V2640M	probably damaging	Het
Fbxl2	A	T	9: 113,813,617 (GRCm39)	C296S	probably damaging	Het
Fcgbp	A	G	7: 27,802,637 (GRCm39)	T1522A	probably benign	Het
Foxl2	A	C	9: 98,837,985 (GRCm39)	K91T	probably damaging	Het
Hdac11	G	T	6: 91,143,247 (GRCm39)	R131L	probably damaging	Het
Ipo11	T	C	13: 106,993,766 (GRCm39)	I723V	probably benign	Het
Klhl33	A	G	14: 51,134,192 (GRCm39)	L150P	probably damaging	Het
Klk1b11	A	G	7: 43,647,261 (GRCm39)	H65R	probably damaging	Het
Larp7	T	C	3: 127,330,685 (GRCm39)		probably null	Het
Ldlrad3	T	C	2: 101,943,892 (GRCm39)	D60G	possibly damaging	Het
Mlip	A	T	9: 77,097,663 (GRCm39)	H177Q	probably damaging	Het
Mrnip	A	G	11: 50,090,730 (GRCm39)	D298G	probably benign	Het
Npas2	A	C	1: 39,375,130 (GRCm39)	S483R	probably benign	Het
Nrg3	C	A	14: 38,733,957 (GRCm39)	E310*	probably null	Het
Or2y12	T	A	11: 49,426,432 (GRCm39)	L140H	probably damaging	Het
Or56b1b	G	T	7: 108,164,620 (GRCm39)	D127E	probably damaging	Het
Plekhg6	T	C	6: 125,340,626 (GRCm39)	D578G	probably damaging	Het
Pygo1	A	G	9: 72,850,267 (GRCm39)	K39E	probably damaging	Het
Rell2	A	G	18: 38,089,994 (GRCm39)	D66G	probably damaging	Het
Samd9l	A	T	6: 3,375,446 (GRCm39)	I605K	probably damaging	Het
Sema6d	T	C	2: 124,505,970 (GRCm39)	S593P	probably damaging	Het
Sf3b3	A	G	8: 111,552,210 (GRCm39)	V545A	probably benign	Het
Speer4f1	T	A	5: 17,684,388 (GRCm39)		probably null	Het
Spem1	T	C	11: 69,711,974 (GRCm39)	E230G	possibly damaging	Het
Sphkap	A	G	1: 83,258,231 (GRCm39)	F171L	probably damaging	Het
Tbc1d13	T	C	2: 30,025,522 (GRCm39)		probably benign	Het
Tmem222	A	T	4: 132,994,154 (GRCm39)	N206K	probably benign	Het
Trnau1ap	C	T	4: 132,049,081 (GRCm39)	V41M	probably damaging	Het
Ttn	C	T	2: 76,769,387 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,766,368 (GRCm39)		probably null	Het
Uox	T	G	3: 146,318,264 (GRCm39)	V55G	possibly damaging	Het
Vmn2r24	A	T	6: 123,755,960 (GRCm39)	I11F	possibly damaging	Het
Wasf2	T	C	4: 132,922,220 (GRCm39)		probably null	Het
Wdr97	A	G	15: 76,240,776 (GRCm39)	Y488C	probably damaging	Het
Zbtb4	T	C	11: 69,669,454 (GRCm39)	S726P	possibly damaging	Het
Zfp534	C	T	4: 147,758,926 (GRCm39)	C581Y	probably damaging	Het
Zfp551	A	T	7: 12,151,108 (GRCm39)	C100*	probably null	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
R6230:Omg	UTSW	11	79,393,784 (GRCm39)	missense	probably benign	0.03
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'- GGTATCTTTGCTTAGAGTGACACC -3'
(R):5'- TGACACAAATCCTTCCAGGGAC -3'

Sequencing Primer
(F):5'- CTTTGCTTAGAGTGACACCAAATG -3'
(R):5'- TCCTTCCAGGGACATTAATAAACCTG -3'

Posted On

2018-09-12