Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02025:Opalin'

184140

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: 0.068) question?

Stock #

IGL02025

Quality Score

Status

Chromosome

Chromosomal Location

41050398-41065552 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 41060674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000084422 (fasta)

Gene Model

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

AlphaFold

Q7M750

Predicted Effect

probably benign
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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	T	C	18: 61,866,770 (GRCm39)		probably benign	Het
Akap6	A	G	12: 53,187,118 (GRCm39)	T1511A	probably benign	Het
Casp8	A	C	1: 58,863,306 (GRCm39)	I69L	possibly damaging	Het
Cdh23	T	C	10: 60,220,922 (GRCm39)	E1274G	probably damaging	Het
Cfap47	A	T	X: 78,554,036 (GRCm39)	S230R	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Depdc5	A	G	5: 33,103,976 (GRCm39)		probably null	Het
Dock5	A	G	14: 68,000,736 (GRCm39)	S1656P	probably damaging	Het
Dock6	A	G	9: 21,720,885 (GRCm39)	S1707P	probably damaging	Het
Eddm3b	T	A	14: 51,354,228 (GRCm39)	V72D	probably damaging	Het
Etl4	A	G	2: 20,811,337 (GRCm39)	D1508G	probably damaging	Het
Gm20489	A	C	X: 100,307,290 (GRCm39)	V21G	probably damaging	Het
Il16	T	C	7: 83,302,056 (GRCm39)	N22S	probably damaging	Het
Ksr1	T	C	11: 78,912,276 (GRCm39)		probably null	Het
Lrrc32	C	T	7: 98,148,767 (GRCm39)	R516C	probably benign	Het
Naa25	T	C	5: 121,577,928 (GRCm39)	V945A	probably damaging	Het
Neb	T	C	2: 52,197,751 (GRCm39)	T501A	probably benign	Het
Npnt	A	C	3: 132,596,523 (GRCm39)		probably null	Het
Nr1h5	G	A	3: 102,856,942 (GRCm39)		probably benign	Het
Or10ak9	G	A	4: 118,726,362 (GRCm39)	C127Y	probably damaging	Het
Or2w6	A	G	13: 21,843,433 (GRCm39)	V20A	possibly damaging	Het
Or9s13	A	G	1: 92,548,269 (GRCm39)	I214V	probably benign	Het
Pls3	A	T	X: 74,840,101 (GRCm39)	L341H	probably damaging	Het
Pnp2	T	A	14: 51,197,010 (GRCm39)	L32H	probably damaging	Het
Prpf40b	T	C	15: 99,212,469 (GRCm39)	F571S	probably damaging	Het
Prss16	A	G	13: 22,187,191 (GRCm39)	S460P	probably damaging	Het
Sh3bp4	T	C	1: 89,073,008 (GRCm39)	S619P	probably benign	Het
Sirpb1b	C	T	3: 15,613,863 (GRCm39)	R73Q	probably damaging	Het
Slc22a8	G	A	19: 8,571,539 (GRCm39)	G90E	possibly damaging	Het
Tbc1d2	G	A	4: 46,620,713 (GRCm39)	R366W	probably damaging	Het
Tns2	T	A	15: 102,020,484 (GRCm39)	Y783*	probably null	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zfp7	C	T	15: 76,772,464 (GRCm39)	S55F	probably damaging	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
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
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

2014-05-07