Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01694:Opalin'

104223

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 #

IGL01694

Quality Score

Status

Chromosome

Chromosomal Location

41050398-41065552 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 41052239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107819 (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 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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	G	14: 35,818,659 (GRCm39)	*219W	probably null	Het
Abi1	G	A	2: 22,850,725 (GRCm39)	T238M	probably damaging	Het
Agbl2	C	T	2: 90,631,418 (GRCm39)	L259F	probably damaging	Het
Cacna1g	T	A	11: 94,319,938 (GRCm39)	I1413F	probably damaging	Het
Ddx21	T	A	10: 62,434,430 (GRCm39)	K110*	probably null	Het
Dnm1l	A	T	16: 16,134,515 (GRCm39)	I463N	probably benign	Het
Dst	C	A	1: 34,227,241 (GRCm39)	H1286Q	probably benign	Het
Elmo2	A	T	2: 165,156,693 (GRCm39)	N67K	probably benign	Het
Eps8l3	G	A	3: 107,799,624 (GRCm39)	C578Y	probably damaging	Het
Fam83b	T	A	9: 76,398,272 (GRCm39)	I944F	probably benign	Het
Itga10	A	T	3: 96,559,833 (GRCm39)	D496V	probably damaging	Het
Lama2	T	G	10: 26,882,738 (GRCm39)	K2608N	possibly damaging	Het
Lap3	T	A	5: 45,655,937 (GRCm39)		probably null	Het
Madd	T	C	2: 90,988,320 (GRCm39)		probably benign	Het
Mdh1b	T	A	1: 63,750,265 (GRCm39)		probably benign	Het
Ncapg2	G	A	12: 116,370,850 (GRCm39)		probably benign	Het
Or4e2	A	G	14: 52,688,041 (GRCm39)	N57S	probably benign	Het
Plxna3	T	A	X: 73,382,114 (GRCm39)	D1291E	probably damaging	Het
Prss40	T	A	1: 34,595,178 (GRCm39)	I101F	probably benign	Het
Rpl5	T	C	5: 108,055,106 (GRCm39)	Y253H	probably benign	Het
Sephs2	A	G	7: 126,872,259 (GRCm39)	I278T	probably benign	Het
Slc25a34	G	A	4: 141,349,564 (GRCm39)	A197V	probably benign	Het
Slco6d1	C	T	1: 98,427,570 (GRCm39)	R634W	probably damaging	Het
Smarca4	C	A	9: 21,577,166 (GRCm39)	A871D	probably damaging	Het
Speer2	C	T	16: 69,655,000 (GRCm39)	S155N	probably damaging	Het
Speer2	T	A	16: 69,655,001 (GRCm39)	S155C	probably damaging	Het
Spink12	T	A	18: 44,240,827 (GRCm39)	V71E	probably damaging	Het
Tecta	T	C	9: 42,278,475 (GRCm39)	D1011G	possibly damaging	Het
Tmtc4	G	A	14: 123,210,624 (GRCm39)	T78I	possibly damaging	Het
Tub	T	C	7: 108,620,243 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,802,631 (GRCm39)	V644D	probably damaging	Het
Zfp7	C	T	15: 76,774,995 (GRCm39)	Q346*	probably null	Het

Other mutations in Opalin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-01-21