Mutagenetix > Incidental Mutation

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

Tmp10, Tmem10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL02878

Quality Score

Status

Chromosome

Chromosomal Location

41050398-41065552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41056108 bp (GRCm39)

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]

AlphaFold

Q7M750

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: 110,029,155 (GRCm39)	D801G	probably benign	Het
Abce1	T	C	8: 80,429,636 (GRCm39)	H95R	possibly damaging	Het
Axl	T	A	7: 25,458,302 (GRCm39)	M818L	probably damaging	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Cdc40	T	C	10: 40,719,118 (GRCm39)	D337G	probably damaging	Het
Cep70	T	C	9: 99,163,160 (GRCm39)		probably benign	Het
Cpeb1	C	T	7: 81,007,074 (GRCm39)	V318I	probably damaging	Het
Crlf1	G	A	8: 70,956,290 (GRCm39)		probably null	Het
Dnah6	A	T	6: 73,009,570 (GRCm39)	D3740E	probably benign	Het
Dnajc28	C	T	16: 91,413,329 (GRCm39)	R329Q	possibly damaging	Het
Ehmt2	T	C	17: 35,129,743 (GRCm39)	Y946H	probably damaging	Het
Gapdhs	C	T	7: 30,429,304 (GRCm39)		probably benign	Het
Gpr61	A	T	3: 108,057,344 (GRCm39)	L439H	probably damaging	Het
Klf9	G	T	19: 23,119,633 (GRCm39)		probably benign	Het
Krt73	T	C	15: 101,707,261 (GRCm39)	Y309C	probably damaging	Het
Lrrk1	T	C	7: 65,912,311 (GRCm39)	M1750V	probably benign	Het
Mc1r	G	T	8: 124,134,369 (GRCm39)	G41C	probably damaging	Het
Mecr	C	A	4: 131,582,019 (GRCm39)	A133E	probably damaging	Het
Mon2	T	C	10: 122,842,896 (GRCm39)	N1511S	probably benign	Het
Mrpl13	A	T	15: 55,403,595 (GRCm39)	L106*	probably null	Het
Mrpl48	A	T	7: 100,223,720 (GRCm39)	V1E	possibly damaging	Het
Myo1c	T	A	11: 75,559,859 (GRCm39)	W683R	possibly damaging	Het
Myo9a	G	A	9: 59,815,583 (GRCm39)		probably null	Het
Myrfl	A	T	10: 116,613,310 (GRCm39)	I831K	possibly damaging	Het
Neurl4	T	A	11: 69,797,657 (GRCm39)	Y671N	probably damaging	Het
Or1j18	A	T	2: 36,624,489 (GRCm39)	D52V	probably damaging	Het
Or7a41	G	T	10: 78,871,392 (GRCm39)	C254F	probably benign	Het
Otoa	T	C	7: 120,743,076 (GRCm39)	F768L	probably damaging	Het
Pde4b	T	A	4: 102,458,836 (GRCm39)	N497K	probably damaging	Het
Plcl2	T	A	17: 50,914,383 (GRCm39)	L464Q	probably damaging	Het
Rfc3	A	G	5: 151,566,379 (GRCm39)	*357R	probably null	Het
Ryr2	A	G	13: 11,933,205 (GRCm39)	S89P	probably benign	Het
Sema3b	C	T	9: 107,478,192 (GRCm39)	V398I	probably damaging	Het
Setd3	A	G	12: 108,074,814 (GRCm39)		probably null	Het
Sgsh	T	C	11: 119,237,384 (GRCm39)	D410G	probably damaging	Het
Slc9a3	G	T	13: 74,313,476 (GRCm39)	E730*	probably null	Het
Sptb	A	G	12: 76,667,527 (GRCm39)	S857P	probably benign	Het
Tmem132c	T	C	5: 127,640,154 (GRCm39)	L775P	probably damaging	Het
Togaram1	T	C	12: 65,039,400 (GRCm39)	V1158A	possibly damaging	Het
Ttn	A	G	2: 76,607,222 (GRCm39)	F17934L	probably damaging	Het
Ube3b	T	C	5: 114,542,778 (GRCm39)		probably null	Het
Ydjc	A	G	16: 16,965,469 (GRCm39)	E111G	possibly damaging	Het
Zp3r	T	A	1: 130,510,588 (GRCm39)	H443L	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
BB002:Opalin	UTSW	19	41,052,242 (GRCm39)	makesense	probably null
BB012:Opalin	UTSW	19	41,052,242 (GRCm39)	makesense	probably null
R0881:Opalin	UTSW	19	41,052,420 (GRCm39)	critical splice acceptor site	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

Posted On

2015-12-18