Mutagenetix > Incidental Mutation

Incidental Mutation 'R0881:Opalin'

80593

Institutional Source

Beutler Lab

Gene Symbol

Opalin

Ensembl Gene

ENSMUSG00000050121

Gene Name

oligodendrocytic myelin paranodal and inner loop protein

Synonyms

Tmp10, Tmem10

MMRRC Submission

039048-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0881 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41050398-41065552 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 41052420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051806] [ENSMUST00000087176] [ENSMUST00000112200]

AlphaFold

Q7M750

Predicted Effect

probably benign
Transcript: ENSMUST00000051806

SMART Domains

Protein: ENSMUSP00000062078
Gene: ENSMUSG00000025014

Domain	Start	End	E-Value	Type
BRCT	29	114	3.05e-9	SMART
POLXc	163	529	5.68e-196	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000087176

SMART Domains

Protein: ENSMUSP00000084422
Gene: ENSMUSG00000050121

Domain	Start	End	E-Value	Type
low complexity region	8	21	N/A	INTRINSIC
transmembrane domain	31	53	N/A	INTRINSIC
low complexity region	122	136	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112200

SMART Domains

Protein: ENSMUSP00000107819
Gene: ENSMUSG00000025014

Domain	Start	End	E-Value	Type
BRCT	29	114	3.05e-9	SMART
POLXc	163	509	1.19e-198	SMART

Meta Mutation Damage Score

0.9482

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 97.0%
20x: 93.0%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Abcc9	T	A	6: 142,592,029 (GRCm39)	I732F	probably damaging	Het
Adam10	T	C	9: 70,653,519 (GRCm39)	S248P	probably damaging	Het
Adam18	A	T	8: 25,162,159 (GRCm39)		probably benign	Het
Angel2	G	A	1: 190,669,661 (GRCm39)	E114K	probably damaging	Het
Arhgap29	A	G	3: 121,808,328 (GRCm39)	T1169A	probably damaging	Het
Atp13a2	T	A	4: 140,731,242 (GRCm39)	M759K	probably damaging	Het
Atxn2l	A	G	7: 126,095,768 (GRCm39)	S450P	probably damaging	Het
B3glct	T	A	5: 149,663,034 (GRCm39)	V264E	probably damaging	Het
Bbx	A	G	16: 50,040,963 (GRCm39)		probably benign	Het
Bmp3	A	G	5: 99,020,461 (GRCm39)	N295D	possibly damaging	Het
C9	G	A	15: 6,488,349 (GRCm39)		probably benign	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Cdan1	A	T	2: 120,551,466 (GRCm39)	V1039E	probably damaging	Het
Dennd4a	T	C	9: 64,758,665 (GRCm39)		probably null	Het
Ext1	A	G	15: 53,207,879 (GRCm39)	L294P	probably benign	Het
Fsip2	C	A	2: 82,816,617 (GRCm39)	H4117N	possibly damaging	Het
Itga8	C	T	2: 12,267,003 (GRCm39)		probably null	Het
Itln1	G	T	1: 171,360,949 (GRCm39)	H48N	probably benign	Het
Kcna5	T	A	6: 126,511,957 (GRCm39)	H57L	probably benign	Het
Klhdc4	A	T	8: 122,526,226 (GRCm39)	Y304*	probably null	Het
Klhl25	A	G	7: 75,516,027 (GRCm39)	Y6C	probably damaging	Het
Lars1	C	T	18: 42,347,851 (GRCm39)	V991M	probably benign	Het
Med20	T	C	17: 47,922,605 (GRCm39)	M1T	probably null	Het
Mslnl	A	T	17: 25,961,939 (GRCm39)	H138L	possibly damaging	Het
Mycbp2	T	C	14: 103,457,449 (GRCm39)	I1583V	probably benign	Het
Nipbl	A	C	15: 8,337,096 (GRCm39)	V2093G	probably damaging	Het
Nup98	T	A	7: 101,809,923 (GRCm39)	T536S	probably damaging	Het
Or1j12	T	G	2: 36,343,452 (GRCm39)	L285R	probably damaging	Het
Or51d1	T	A	7: 102,348,291 (GRCm39)	V282D	possibly damaging	Het
Or8g26	A	G	9: 39,095,984 (GRCm39)	K170R	probably benign	Het
Pgm2	A	T	5: 64,250,351 (GRCm39)	T9S	unknown	Het
Piwil2	A	C	14: 70,646,376 (GRCm39)	S387A	probably benign	Het
Polr1c	T	C	17: 46,555,539 (GRCm39)	T240A	possibly damaging	Het
Polr3c	A	G	3: 96,631,163 (GRCm39)	M118T	probably damaging	Het
Pth1r	C	T	9: 110,560,641 (GRCm39)	C42Y	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rictor	A	T	15: 6,821,151 (GRCm39)	M1492L	probably benign	Het
Rrbp1	T	A	2: 143,795,173 (GRCm39)	Y1277F	probably benign	Het
Scgb3a2	T	G	18: 43,897,549 (GRCm39)		probably benign	Het
Skint1	G	A	4: 111,886,054 (GRCm39)	S327N	probably benign	Het
Steap4	A	T	5: 8,030,388 (GRCm39)	S415C	probably benign	Het
Tex48	A	G	4: 63,530,228 (GRCm39)		probably benign	Het
Tox2	T	A	2: 163,163,365 (GRCm39)	S502T	probably benign	Het
Usp47	T	A	7: 111,690,643 (GRCm39)	I762K	possibly damaging	Het
Vmn2r53	T	C	7: 12,334,859 (GRCm39)	H267R	probably benign	Het
Wnt2b	A	G	3: 104,860,513 (GRCm39)		probably benign	Het
Xirp1	T	C	9: 119,847,483 (GRCm39)	N28D	possibly damaging	Het
Zeb1	T	C	18: 5,767,138 (GRCm39)	S550P	probably benign	Het

Other mutations in Opalin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01694:Opalin	APN	19	41,052,239 (GRCm39)	unclassified	probably benign
IGL02025:Opalin	APN	19	41,060,674 (GRCm39)	splice site	probably benign
IGL02282:Opalin	APN	19	41,054,943 (GRCm39)	missense	probably benign	0.40
IGL02878:Opalin	APN	19	41,056,108 (GRCm39)	missense	probably benign	0.19
BB002:Opalin	UTSW	19	41,052,242 (GRCm39)	makesense	probably null
BB012:Opalin	UTSW	19	41,052,242 (GRCm39)	makesense	probably null
R1781:Opalin	UTSW	19	41,056,070 (GRCm39)	splice site	probably null
R4579:Opalin	UTSW	19	41,056,196 (GRCm39)	missense	probably damaging	0.98
R5455:Opalin	UTSW	19	41,058,392 (GRCm39)	missense	probably benign	0.20
R5470:Opalin	UTSW	19	41,054,970 (GRCm39)	missense	probably benign	0.34
R7161:Opalin	UTSW	19	41,058,374 (GRCm39)	missense	possibly damaging	0.50
R7925:Opalin	UTSW	19	41,052,242 (GRCm39)	makesense	probably null
R9578:Opalin	UTSW	19	41,060,668 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGTACAAGCCACCAAAGTCCTCTTC -3'
(R):5'- AGACGGTCTGCCAGCAATAATTAGC -3'

Sequencing Primer
(F):5'- AAAGTCCTCTTCTCCTTTCTAGTTC -3'
(R):5'- gcctgaaaaccccttgatgac -3'

Posted On

2013-11-07