Mutagenetix > Incidental Mutation

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

Tmp10, Tmem10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5455 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41050398-41065552 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41058392 bp (GRCm39)

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]

AlphaFold

Q7M750

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
Adgrf1	T	A	17: 43,632,034 (GRCm39)		probably null	Het
Ascc3	T	C	10: 50,725,679 (GRCm39)	V2134A	probably benign	Het
Cct6b	T	G	11: 82,645,943 (GRCm39)	I80L	probably benign	Het
Cfap20dc	A	T	14: 8,536,516 (GRCm38)		probably null	Het
Crebbp	C	A	16: 3,903,831 (GRCm39)	V1765L	probably benign	Het
Cul9	C	T	17: 46,821,772 (GRCm39)		probably null	Het
Cyp2c40	A	G	19: 39,792,236 (GRCm39)	I236T	possibly damaging	Het
Dbndd2	C	A	2: 164,332,113 (GRCm39)	T112K	possibly damaging	Het
Dmrtc2	A	C	7: 24,571,916 (GRCm39)	S4R	probably benign	Het
Dnah6	C	T	6: 73,052,717 (GRCm39)	V2988I	probably benign	Het
Dnajb12	GC	G	10: 59,728,574 (GRCm39)		probably null	Het
Ercc3	T	C	18: 32,400,262 (GRCm39)	S705P	possibly damaging	Het
Gm10306	T	G	4: 94,445,077 (GRCm39)		probably benign	Het
H2-Q6	T	C	17: 35,643,860 (GRCm39)	L3P	unknown	Het
Kcnn4	T	C	7: 24,076,978 (GRCm39)	S176P	probably damaging	Het
Maml2	T	A	9: 13,617,039 (GRCm39)	Y128*	probably null	Het
Map2	G	A	1: 66,438,550 (GRCm39)	E25K	probably damaging	Het
Morc2b	T	A	17: 33,357,584 (GRCm39)	M63L	probably benign	Het
Mthfd1	A	G	12: 76,348,062 (GRCm39)	I569V	probably benign	Het
Myh8	G	A	11: 67,192,244 (GRCm39)	R1399H	possibly damaging	Het
Nop2	T	C	6: 125,117,606 (GRCm39)	I424T	probably benign	Het
Olfm5	T	C	7: 103,803,669 (GRCm39)	R265G	probably damaging	Het
Or10j7	A	G	1: 173,011,818 (GRCm39)	F61S	probably damaging	Het
Or7a36	C	T	10: 78,820,371 (GRCm39)	S249F	possibly damaging	Het
Pced1b	C	A	15: 97,282,274 (GRCm39)	S104R	probably benign	Het
Pdia2	T	G	17: 26,416,137 (GRCm39)	Q310P	probably null	Het
Ppil6	A	G	10: 41,374,541 (GRCm39)	T141A	probably benign	Het
Prrc2b	A	G	2: 32,111,355 (GRCm39)		probably null	Het
Stxbp5	A	G	10: 9,684,252 (GRCm39)	S573P	probably benign	Het
Synpo2l	C	A	14: 20,712,360 (GRCm39)	A87S	probably damaging	Het
Tor1b	GGACG	GG	2: 30,846,957 (GRCm39)		probably benign	Het
Vmn1r89	A	T	7: 12,954,194 (GRCm39)	H121L	probably benign	Het
Vmn2r99	T	A	17: 19,614,408 (GRCm39)	C709*	probably null	Het
Vstm4	A	G	14: 32,585,835 (GRCm39)	H134R	possibly damaging	Het
Zan	C	T	5: 137,452,262 (GRCm39)	C1569Y	unknown	Het
Zdhhc13	A	G	7: 48,455,323 (GRCm39)	T122A	possibly damaging	Het
Zpbp2	G	T	11: 98,448,429 (GRCm39)	V249L	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
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
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

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