Mutagenetix > Incidental Mutations

Incidental Mutation 'R7925:Opalin'

643303

Institutional Source

Beutler Lab

Gene Symbol

Opalin

Ensembl Gene

ENSMUSG00000050121

Gene Name

oligodendrocytic myelin paranodal and inner loop protein

Synonyms

Tmem10, Tmp10

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R7925 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

41062474-41077113 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 41063803 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Cysteine at position 144 (*144C)

Ref Sequence

ENSEMBL: ENSMUSP00000084422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051806] [ENSMUST00000087176] [ENSMUST00000112200]

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 null
Transcript: ENSMUST00000087176
AA Change: *144C

SMART Domains

Protein: ENSMUSP00000084422
Gene: ENSMUSG00000050121
AA Change: *144C

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

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,994,082	Q392*	probably null	Het
4933427D14Rik	A	C	11: 72,180,501	L473V	probably benign	Het
A930002H24Rik	A	T	17: 63,863,397	V132E	unknown	Het
Abcc2	A	G	19: 43,807,112	I436V	probably benign	Het
Ahr	G	A	12: 35,515,068	Q103*	probably null	Het
Asb15	T	A	6: 24,562,724	H228Q	probably benign	Het
Asphd1	T	A	7: 126,948,456	Y225F	probably damaging	Het
Atp2c1	A	G	9: 105,442,770	M468T	possibly damaging	Het
BC030499	T	C	11: 78,291,623	L86P	probably damaging	Het
Brca1	A	G	11: 101,508,146	I1540T	probably benign	Het
Cdh20	A	T	1: 104,984,748	I576F	probably damaging	Het
Chst11	T	A	10: 83,190,954	S72T	probably damaging	Het
Cldn17	T	G	16: 88,506,645	K65N	probably damaging	Het
Cldn22	T	C	8: 47,825,187	I220T	probably benign	Het
Coasy	T	G	11: 101,083,696	D229E	probably benign	Het
Colec10	T	C	15: 54,462,371	V199A	probably damaging	Het
Cpn2	G	T	16: 30,260,801	D27E	probably damaging	Het
F5	T	A	1: 164,176,366		probably null	Het
Fat3	C	T	9: 16,031,360	V1239I	possibly damaging	Het
Fbxl16	A	G	17: 25,816,906	N159S	probably benign	Het
Fhad1	A	G	4: 141,954,187	I514T	probably damaging	Het
Fras1	A	G	5: 96,781,584	K3949R	probably damaging	Het
Gm8126	A	G	14: 43,261,566	N164S	probably damaging	Het
Grm3	T	A	5: 9,589,880	E55V	probably benign	Het
Itgbl1	G	A	14: 123,973,323	D478N	possibly damaging	Het
Kcnt2	T	A	1: 140,354,509	Y77*	probably null	Het
Kdm4c	T	C	4: 74,404,821	S997P	probably damaging	Het
Kti12	A	C	4: 108,848,246	E119A	probably benign	Het
Kti12	G	T	4: 108,848,247	E119D	probably benign	Het
Lrrc28	T	C	7: 67,619,109	Y71C	probably damaging	Het
Lrrc45	T	A	11: 120,715,880	W203R	probably benign	Het
Lrrc66	A	T	5: 73,608,492	C403S	possibly damaging	Het
Ly6g6e	A	T	17: 35,077,918	E45V	probably damaging	Het
Mgam	C	T	6: 40,759,051	T1574I	probably damaging	Het
Msrb2	A	T	2: 19,383,280	M80L	probably benign	Het
Musk	T	A	4: 58,367,513	L592Q	probably damaging	Het
Nlrp4a	C	A	7: 26,450,586	N539K	probably benign	Het
Obscn	C	G	11: 59,112,555	E1306Q	probably benign	Het
Olfr1006	T	C	2: 85,674,563	E196G		Het
Olfr1291-ps1	A	G	2: 111,499,821	S190G	probably damaging	Het
Olfr355	A	G	2: 36,927,359	F252L	possibly damaging	Het
Olfr388-ps1	A	G	11: 73,724,536	S163P	unknown	Het
Pdgfra	T	A	5: 75,192,418		probably benign	Het
Pgam2	T	A	11: 5,803,007	H196L	possibly damaging	Het
Pgls	T	C	8: 71,592,352	S46P	probably damaging	Het
Prrc2b	A	G	2: 32,204,115	E503G	probably damaging	Het
Prss45	T	C	9: 110,841,035	L304P	unknown	Het
Rbm20	T	A	19: 53,813,322	V87D	probably damaging	Het
Serpinb8	T	C	1: 107,598,985	L85S	probably benign	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,804,437		probably benign	Het
Sh2b2	A	T	5: 136,224,261	H352Q	probably benign	Het
Slc6a17	T	C	3: 107,495,740	I124V	probably damaging	Het
Smim10l1	G	A	6: 133,105,582	V31M	probably damaging	Het
Snx10	T	C	6: 51,580,321	S78P	probably benign	Het
Stard10	T	C	7: 101,342,631	V187A	probably damaging	Het
Svil	C	A	18: 5,118,357	D2146E	probably benign	Het
Tsc22d4	A	G	5: 137,751,365	D301G	probably null	Het
Ube3c	T	A	5: 29,646,431	I752N	probably damaging	Het
Wisp2	G	C	2: 163,829,041	R156T	possibly damaging	Het
Wwc1	T	C	11: 35,844,163	M962V	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
R5455:Opalin	UTSW	19	41069953	missense	probably benign	0.20
R5470:Opalin	UTSW	19	41066531	missense	probably benign	0.34
R7161:Opalin	UTSW	19	41069935	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TTGCTGATTACCCTGCAAGGTC -3'
(R):5'- TTCTCAAGAATCCTAGGCGGTC -3'

Sequencing Primer
(F):5'- GATTACCCTGCAAGGTCTGAGATC -3'
(R):5'- TAGGCGGTCACCCACACATG -3'

Posted On

2020-08-07