Mutagenetix > Incidental Mutations

Incidental Mutation 'R5455:Opalin'

501065

Institutional Source

Beutler Lab

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: 0.064) question?

Stock #

R5455 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41062474-41077113 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41069953 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 14 (T14A)

Ref Sequence

ENSEMBL: ENSMUSP00000084422 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087176
AA Change: T14A

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000084422
Gene: ENSMUSG00000050121
AA Change: T14A

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

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	T	14: 8,536,516		probably null	Het
Adgrf1	T	A	17: 43,321,143		probably null	Het
Ascc3	T	C	10: 50,849,583	V2134A	probably benign	Het
Cct6b	T	G	11: 82,755,117	I80L	probably benign	Het
Crebbp	C	A	16: 4,085,967	V1765L	probably benign	Het
Cul9	C	T	17: 46,510,846		probably null	Het
Cyp2c40	A	G	19: 39,803,792	I236T	possibly damaging	Het
Dbndd2	C	A	2: 164,490,193	T112K	possibly damaging	Het
Dmrtc2	A	C	7: 24,872,491	S4R	probably benign	Het
Dnah6	C	T	6: 73,075,734	V2988I	probably benign	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
Ercc3	T	C	18: 32,267,209	S705P	possibly damaging	Het
Gm10306	T	G	4: 94,556,840		probably benign	Het
H2-Q6	T	C	17: 35,424,884	L3P	unknown	Het
Kcnn4	T	C	7: 24,377,553	S176P	probably damaging	Het
Maml2	T	A	9: 13,705,743	Y128*	probably null	Het
Map2	G	A	1: 66,399,391	E25K	probably damaging	Het
Morc2b	T	A	17: 33,138,610	M63L	probably benign	Het
Mthfd1	A	G	12: 76,301,288	I569V	probably benign	Het
Myh8	G	A	11: 67,301,418	R1399H	possibly damaging	Het
Nop2	T	C	6: 125,140,643	I424T	probably benign	Het
Olfm5	T	C	7: 104,154,462	R265G	probably damaging	Het
Olfr1352	C	T	10: 78,984,537	S249F	possibly damaging	Het
Olfr1406	A	G	1: 173,184,251	F61S	probably damaging	Het
Pced1b	C	A	15: 97,384,393	S104R	probably benign	Het
Pdia2	T	G	17: 26,197,163	Q310P	probably null	Het
Ppil6	A	G	10: 41,498,545	T141A	probably benign	Het
Prrc2b	A	G	2: 32,221,343		probably null	Het
Stxbp5	A	G	10: 9,808,508	S573P	probably benign	Het
Synpo2l	C	A	14: 20,662,292	A87S	probably damaging	Het
Tor1b	GGACG	GG	2: 30,956,945		probably benign	Het
Vmn1r89	A	T	7: 13,220,267	H121L	probably benign	Het
Vmn2r99	T	A	17: 19,394,146	C709*	probably null	Het
Vstm4	A	G	14: 32,863,878	H134R	possibly damaging	Het
Zan	C	T	5: 137,454,000	C1569Y	unknown	Het
Zdhhc13	A	G	7: 48,805,575	T122A	possibly damaging	Het
Zpbp2	G	T	11: 98,557,603	V249L	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
R4579:Opalin	UTSW	19	41067757	missense	probably damaging	0.98
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'- ATTGAGTCTAGTCCCGGGCTTG -3'
(R):5'- TGATTCACCGGGTCAATAGTG -3'

Sequencing Primer
(F):5'- TTGAGGACAGCTCCCAAGTC -3'
(R):5'- CATGAAGCCTAATTTCACTCTGG -3'

Posted On

2017-12-01