Mutagenetix > Incidental Mutations

Incidental Mutation 'R4579:Opalin'

343551

Institutional Source

Beutler Lab

Gene Symbol

Opalin

Ensembl Gene

ENSMUSG00000050121

Gene Name

oligodendrocytic myelin paranodal and inner loop protein

Synonyms

Tmem10, Tmp10

MMRRC Submission

041801-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R4579 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41062474-41077113 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41067757 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 33 (L33P)

Ref Sequence

ENSEMBL: ENSMUSP00000084422 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000087176
AA Change: L33P

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000084422
Gene: ENSMUSG00000050121
AA Change: L33P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

97% (88/91)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930004D18Rik	A	G	2: 18,027,037	I90T	probably damaging	Het
Acox3	A	G	5: 35,604,643	N444D	probably damaging	Het
Adamts16	A	G	13: 70,779,624	Y499H	probably damaging	Het
Ank2	A	T	3: 126,958,963	V368D	probably damaging	Het
Atad5	T	C	11: 80,095,191	V368A	probably damaging	Het
Atp13a5	T	C	16: 29,248,338		probably null	Het
Bdh1	A	T	16: 31,436,136		probably benign	Het
Bmp6	A	T	13: 38,469,725	Y256F	probably damaging	Het
Bub1b	C	A	2: 118,623,176	S496*	probably null	Het
Capn15	C	T	17: 25,959,837	R1128H	probably damaging	Het
Ccnf	T	A	17: 24,231,329	R461*	probably null	Het
Col6a1	C	T	10: 76,711,357	V725I	unknown	Het
Cp	T	C	3: 19,957,435		probably null	Het
Cul2	T	C	18: 3,430,957	V577A	probably benign	Het
Cux2	A	T	5: 121,860,653	I1408K	probably benign	Het
Cyp2c69	T	A	19: 39,881,186	T130S	possibly damaging	Het
Cyp3a57	A	G	5: 145,374,264	T278A	probably benign	Het
Dchs1	T	G	7: 105,754,765	T2857P	probably damaging	Het
Dchs1	A	G	7: 105,758,973	M1884T	probably benign	Het
Dnah3	T	C	7: 120,009,331	S1802G	probably damaging	Het
Dner	T	C	1: 84,383,816	S691G	probably damaging	Het
Dzip1l	A	T	9: 99,647,214	Q332L	probably damaging	Het
Eprs	A	G	1: 185,401,607	Y827C	probably damaging	Het
Ermp1	A	T	19: 29,616,651	N706K	probably damaging	Het
F830045P16Rik	A	G	2: 129,463,503	L317S	probably damaging	Het
Fam120c	G	T	X: 151,436,183	G696W	probably damaging	Het
Fance	T	A	17: 28,317,151		probably null	Het
Fancl	G	T	11: 26,468,423		probably null	Het
Fbxo30	T	A	10: 11,289,549	V5E	probably benign	Het
Foxn4	A	T	5: 114,256,825	I347N	possibly damaging	Het
Galr2	A	T	11: 116,281,499	D5V	probably benign	Het
Gm14139	T	A	2: 150,192,223	Y186N	probably damaging	Het
Gm4845	T	G	1: 141,257,127		noncoding transcript	Het
Gm8909	C	T	17: 36,161,757		probably benign	Het
Gm996	T	A	2: 25,579,649	R83S	possibly damaging	Het
Gnao1	A	T	8: 93,966,904	Q73L	probably damaging	Het
Gnpat	T	A	8: 124,878,502		probably null	Het
Hectd1	A	G	12: 51,744,573	M2594T	probably damaging	Het
Hint3	T	C	10: 30,610,432	H117R	probably damaging	Het
Hsd3b6	A	G	3: 98,806,225	F253L	probably damaging	Het
Itgal	A	G	7: 127,305,294	D313G	possibly damaging	Het
Kbtbd2	A	T	6: 56,778,908	D614E	probably damaging	Het
Ksr2	A	T	5: 117,756,270	I825F	probably damaging	Het
L3mbtl4	A	T	17: 68,764,640	S521C	probably benign	Het
Lamc1	T	C	1: 153,247,269	N725S	probably damaging	Het
Med1	T	G	11: 98,158,422	E516A	possibly damaging	Het
Mical3	A	T	6: 120,958,699	V1622E	probably benign	Het
Miip	G	A	4: 147,861,061	P373S	probably damaging	Het
Myo7a	C	A	7: 98,073,193	S1175I	probably damaging	Het
Ndst3	A	T	3: 123,546,825	D781E	probably benign	Het
Nf1	T	A	11: 79,468,757	V1407E	probably damaging	Het
Olfr1066	T	C	2: 86,455,515	Y252C	probably damaging	Het
Olfr1216	T	C	2: 89,013,144	I307V	probably benign	Het
Olfr133	G	C	17: 38,149,405	K272N	probably damaging	Het
Olfr282	A	T	15: 98,437,679	D70V	probably damaging	Het
Olfr452	A	T	6: 42,790,524	I162F	probably benign	Het
Olfr870	G	T	9: 20,171,114	S152R	probably damaging	Het
Pcdhb2	T	A	18: 37,296,115	N23K	probably damaging	Het
Pdap1	A	G	5: 145,136,881		probably benign	Het
Pds5b	A	G	5: 150,746,732	E395G	probably damaging	Het
Pex1	C	A	5: 3,618,880	R624S	probably benign	Het
Pitrm1	G	A	13: 6,558,225	V329I	probably benign	Het
Pop1	G	A	15: 34,515,824		probably benign	Het
Prkaa1	A	G	15: 5,160,601		probably null	Het
Slc38a6	G	T	12: 73,288,524		probably null	Het
Slc5a9	T	A	4: 111,893,187	Y158F	probably damaging	Het
Spata3	T	A	1: 86,026,453	V114E	probably damaging	Het
Tbcb	T	A	7: 30,231,594	I34F	possibly damaging	Het
Tek	T	A	4: 94,863,666	Y1014*	probably null	Het
Togaram1	G	T	12: 64,967,907	C644F	probably damaging	Het
Trim56	A	C	5: 137,114,064	D199E	possibly damaging	Het
Tssk3	A	T	4: 129,489,317	D187E	probably benign	Het
Ttn	G	A	2: 76,896,803		probably benign	Het
Twf2	G	A	9: 106,212,826	R126Q	probably benign	Het
Ugt1a10	T	C	1: 88,056,116	M212T	probably benign	Het
Vmn1r177	A	T	7: 23,866,347	F35I	possibly damaging	Het
Vmn1r44	T	A	6: 89,893,933	H77Q	possibly damaging	Het
Zfp524	G	A	7: 5,018,348	V292I	probably benign	Het
Zfp788	T	G	7: 41,647,594	I56S	probably benign	Het

Other mutations in Opalin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01694:Opalin	APN	19	41063800	unclassified	probably benign
IGL02025:Opalin	APN	19	41072235	splice site	probably benign
IGL02282:Opalin	APN	19	41066504	missense	probably benign	0.40
IGL02878:Opalin	APN	19	41067669	missense	probably benign	0.19
BB002:Opalin	UTSW	19	41063803	makesense	probably null
BB012:Opalin	UTSW	19	41063803	makesense	probably null
R0881:Opalin	UTSW	19	41063981	critical splice acceptor site	probably null
R1781:Opalin	UTSW	19	41067631	splice site	probably null
R5455:Opalin	UTSW	19	41069953	missense	probably benign	0.20
R5470:Opalin	UTSW	19	41066531	missense	probably benign	0.34
R7161:Opalin	UTSW	19	41069935	missense	possibly damaging	0.50
R7925:Opalin	UTSW	19	41063803	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCTAACGCCAGACAGAGG -3'
(R):5'- TTCCAATGCAGTCAGAGCC -3'

Sequencing Primer
(F):5'- CAGACAGAGGCCAGTGCAC -3'
(R):5'- ACAGGGTTTCTCAGTGTAACCAGC -3'

Posted On

2015-09-24