Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02878:Opalin'

362713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Opalin

Ensembl Gene

ENSMUSG00000050121

Gene Name

oligodendrocytic myelin paranodal and inner loop protein

Synonyms

Tmem10, Tmp10

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02878

Quality Score

Status

Chromosome

Chromosomal Location

41062474-41077113 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41067669 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 62 (D62E)

Ref Sequence

ENSEMBL: ENSMUSP00000084422 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087176
AA Change: D62E

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084422
Gene: ENSMUSG00000050121
AA Change: D62E

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,138,329	D801G	probably benign	Het
Abce1	T	C	8: 79,703,007	H95R	possibly damaging	Het
Axl	T	A	7: 25,758,877	M818L	probably damaging	Het
Cckbr	C	T	7: 105,434,031	A147V	probably damaging	Het
Cdc40	T	C	10: 40,843,122	D337G	probably damaging	Het
Cep70	T	C	9: 99,281,107		probably benign	Het
Cpeb1	C	T	7: 81,357,326	V318I	probably damaging	Het
Crlf1	G	A	8: 70,503,640		probably null	Het
Dnah6	A	T	6: 73,032,587	D3740E	probably benign	Het
Dnajc28	C	T	16: 91,616,441	R329Q	possibly damaging	Het
Ehmt2	T	C	17: 34,910,767	Y946H	probably damaging	Het
Gapdhs	C	T	7: 30,729,879		probably benign	Het
Gpr61	A	T	3: 108,150,028	L439H	probably damaging	Het
Klf9	G	T	19: 23,142,269		probably benign	Het
Krt73	T	C	15: 101,798,826	Y309C	probably damaging	Het
Lrrk1	T	C	7: 66,262,563	M1750V	probably benign	Het
Mc1r	G	T	8: 123,407,630	G41C	probably damaging	Het
Mecr	C	A	4: 131,854,708	A133E	probably damaging	Het
Mon2	T	C	10: 123,006,991	N1511S	probably benign	Het
Mrpl13	A	T	15: 55,540,199	L106*	probably null	Het
Mrpl48	A	T	7: 100,574,513	V1E	possibly damaging	Het
Myo1c	T	A	11: 75,669,033	W683R	possibly damaging	Het
Myo9a	G	A	9: 59,908,300		probably null	Het
Myrfl	A	T	10: 116,777,405	I831K	possibly damaging	Het
Neurl4	T	A	11: 69,906,831	Y671N	probably damaging	Het
Olfr347	A	T	2: 36,734,477	D52V	probably damaging	Het
Olfr57	G	T	10: 79,035,558	C254F	probably benign	Het
Otoa	T	C	7: 121,143,853	F768L	probably damaging	Het
Pde4b	T	A	4: 102,601,639	N497K	probably damaging	Het
Plcl2	T	A	17: 50,607,355	L464Q	probably damaging	Het
Rfc3	A	G	5: 151,642,914	*357R	probably null	Het
Ryr2	A	G	13: 11,918,319	S89P	probably benign	Het
Sema3b	C	T	9: 107,600,993	V398I	probably damaging	Het
Setd3	A	G	12: 108,108,555		probably null	Het
Sgsh	T	C	11: 119,346,558	D410G	probably damaging	Het
Slc9a3	G	T	13: 74,165,357	E730*	probably null	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Tmem132c	T	C	5: 127,563,090	L775P	probably damaging	Het
Togaram1	T	C	12: 64,992,626	V1158A	possibly damaging	Het
Ttn	A	G	2: 76,776,878	F17934L	probably damaging	Het
Ube3b	T	C	5: 114,404,717		probably null	Het
Ydjc	A	G	16: 17,147,605	E111G	possibly damaging	Het
Zp3r	T	A	1: 130,582,851	H443L	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
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
R4579:Opalin	UTSW	19	41067757	missense	probably damaging	0.98
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

Posted On

2015-12-18