Mutagenetix > Incidental Mutation

Incidental Mutation 'R1493:Myef2l'

165533

Institutional Source

Beutler Lab

Gene Symbol

Myef2l

Ensembl Gene

ENSMUSG00000049230

Gene Name

myelin expression factor 2 like

Synonyms

Gm9833

MMRRC Submission

039544-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R1493 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10153337-10157622 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10153944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 238 (K238E)

Ref Sequence

ENSEMBL: ENSMUSP00000058811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061419]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000061419
AA Change: K238E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058811
Gene: ENSMUSG00000049230
AA Change: K238E

Domain	Start	End	E-Value	Type
RRM	92	165	1.84e-22	SMART
low complexity region	198	211	N/A	INTRINSIC
RRM	225	297	5.12e-21	SMART
low complexity region	318	335	N/A	INTRINSIC
low complexity region	351	376	N/A	INTRINSIC
low complexity region	382	410	N/A	INTRINSIC
Pfam:RRM_1	459	497	1.3e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194684

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,767,544 (GRCm39)	S14P	probably damaging	Het
Abca15	A	T	7: 119,981,513 (GRCm39)	D989V	probably benign	Het
Abcg8	T	C	17: 85,004,107 (GRCm39)	S472P	probably damaging	Het
Ablim2	T	C	5: 35,966,605 (GRCm39)	F178S	probably damaging	Het
Adprm	A	G	11: 66,932,702 (GRCm39)	V69A	possibly damaging	Het
Ankrd27	C	T	7: 35,307,790 (GRCm39)	S343L	probably benign	Het
Arfgef3	A	G	10: 18,506,627 (GRCm39)	S833P	probably damaging	Het
Arhgap42	T	G	9: 9,030,798 (GRCm39)	E339D	probably benign	Het
Axdnd1	T	A	1: 156,174,271 (GRCm39)	M799L	probably benign	Het
Cars2	A	T	8: 11,567,817 (GRCm39)		probably null	Het
Cd7	T	C	11: 120,928,967 (GRCm39)	T95A	probably damaging	Het
Cep290	A	T	10: 100,398,043 (GRCm39)	T2200S	probably benign	Het
Cep44	A	G	8: 56,985,870 (GRCm39)	S299P	probably damaging	Het
Cfap58	C	T	19: 47,976,943 (GRCm39)	H731Y	probably damaging	Het
Ehbp1	T	A	11: 21,956,866 (GRCm39)	E1204V	probably damaging	Het
Fgd5	A	G	6: 91,964,612 (GRCm39)	K124E	probably benign	Het
Folh1	T	C	7: 86,410,938 (GRCm39)	D268G	probably damaging	Het
Gm4559	A	T	7: 141,828,050 (GRCm39)	C17*	probably null	Het
Helz	A	G	11: 107,504,751 (GRCm39)	I413V	probably benign	Het
Hexd	A	G	11: 121,112,093 (GRCm39)	I438V	probably benign	Het
Hrh1	G	A	6: 114,457,838 (GRCm39)	G373D	probably damaging	Het
Hs3st5	G	A	10: 36,708,870 (GRCm39)	G135D	probably damaging	Het
Iqcf6	T	C	9: 106,504,641 (GRCm39)	Y102H	probably benign	Het
Kmt2a	A	T	9: 44,758,202 (GRCm39)	S1124R	probably damaging	Het
Map3k5	A	G	10: 19,904,859 (GRCm39)	D387G	probably damaging	Het
Morc2a	A	G	11: 3,628,557 (GRCm39)	N337D	probably benign	Het
Musk	C	T	4: 58,354,003 (GRCm39)	A352V	probably benign	Het
Nans	G	A	4: 46,500,761 (GRCm39)	E218K	probably damaging	Het
Niban1	T	A	1: 151,581,841 (GRCm39)	V479D	probably damaging	Het
Ninl	T	G	2: 150,822,015 (GRCm39)	D29A	probably damaging	Het
Nod1	A	G	6: 54,921,041 (GRCm39)	F426L	probably damaging	Het
Notch4	T	A	17: 34,786,656 (GRCm39)	C265*	probably null	Het
Nsd3	A	G	8: 26,203,407 (GRCm39)	D1307G	probably benign	Het
Or51h1	T	C	7: 102,308,220 (GRCm39)	L64P	probably damaging	Het
Or52e18	T	A	7: 104,609,709 (GRCm39)	T77S	probably damaging	Het
Orai3	G	A	7: 127,373,077 (GRCm39)	V193M	possibly damaging	Het
Prkag1	T	C	15: 98,711,551 (GRCm39)	Y271C	probably benign	Het
Rfc4	T	C	16: 22,936,758 (GRCm39)	I116V	probably damaging	Het
Ric1	T	C	19: 29,557,249 (GRCm39)	Y445H	probably benign	Het
Rnmt	G	A	18: 68,446,778 (GRCm39)	D268N	probably damaging	Het
Rsph1	C	T	17: 31,484,873 (GRCm39)	G139D	probably damaging	Het
Sez6l2	C	A	7: 126,560,984 (GRCm39)	P483Q	probably damaging	Het
Sgo2b	A	G	8: 64,379,889 (GRCm39)	L981P	probably damaging	Het
Shmt2	A	G	10: 127,354,812 (GRCm39)		probably null	Het
Sorbs3	T	C	14: 70,430,076 (GRCm39)	T353A	possibly damaging	Het
Stk25	T	C	1: 93,553,322 (GRCm39)	T260A	probably benign	Het
Tasor	A	G	14: 27,171,926 (GRCm39)	S425G	probably damaging	Het
Thap12	A	G	7: 98,364,645 (GRCm39)	H271R	probably benign	Het
Tmprss13	A	G	9: 45,247,405 (GRCm39)	T256A	probably benign	Het
Tpo	A	T	12: 30,181,808 (GRCm39)	I29N	possibly damaging	Het
Trpc2	A	T	7: 101,739,783 (GRCm39)	N569I	probably damaging	Het
Unc13c	T	C	9: 73,546,350 (GRCm39)	T1607A	probably benign	Het
Vldlr	A	G	19: 27,218,691 (GRCm39)	N514S	probably benign	Het
Vps18	A	G	2: 119,127,613 (GRCm39)	Y812C	probably damaging	Het
Zfp692	A	T	11: 58,204,866 (GRCm39)	I409F	probably damaging	Het
Zfp735	G	A	11: 73,601,305 (GRCm39)	C83Y	possibly damaging	Het
Zic1	A	G	9: 91,246,809 (GRCm39)	S88P	probably damaging	Het

Other mutations in Myef2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Myef2l	APN	3	10,154,118 (GRCm39)	missense	probably damaging	1.00
IGL03152:Myef2l	APN	3	10,153,334 (GRCm39)	missense	probably benign	0.00
R0016:Myef2l	UTSW	3	10,154,379 (GRCm39)	missense	possibly damaging	0.87
R0092:Myef2l	UTSW	3	10,153,633 (GRCm39)	missense	possibly damaging	0.76
R0636:Myef2l	UTSW	3	10,153,843 (GRCm39)	missense	possibly damaging	0.94
R1697:Myef2l	UTSW	3	10,154,613 (GRCm39)	missense	possibly damaging	0.89
R1957:Myef2l	UTSW	3	10,154,346 (GRCm39)	missense	probably benign	0.42
R3754:Myef2l	UTSW	3	10,153,575 (GRCm39)	missense	possibly damaging	0.95
R5658:Myef2l	UTSW	3	10,153,837 (GRCm39)	missense	probably damaging	1.00
R5772:Myef2l	UTSW	3	10,153,566 (GRCm39)	missense	probably damaging	1.00
R6298:Myef2l	UTSW	3	10,154,239 (GRCm39)	missense	probably damaging	1.00
R8191:Myef2l	UTSW	3	10,153,914 (GRCm39)	missense	probably damaging	1.00
R8940:Myef2l	UTSW	3	10,153,406 (GRCm39)	missense	probably benign	0.35
R9036:Myef2l	UTSW	3	10,157,341 (GRCm39)	missense	unknown
R9041:Myef2l	UTSW	3	10,157,353 (GRCm39)	makesense	probably null
R9116:Myef2l	UTSW	3	10,153,593 (GRCm39)	missense	probably damaging	0.98
R9166:Myef2l	UTSW	3	10,153,849 (GRCm39)	missense	probably benign	0.08
R9375:Myef2l	UTSW	3	10,153,791 (GRCm39)	missense	probably benign	0.42
R9408:Myef2l	UTSW	3	10,154,407 (GRCm39)	missense	probably benign	0.29
X0023:Myef2l	UTSW	3	10,153,376 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCATTTCAAGGATCACATGCCTCCG -3'
(R):5'- CAAAGCCTGCCATGCTATTCATTGC -3'

Sequencing Primer
(F):5'- CACATGCCTCCGATGTGG -3'
(R):5'- TGGCACTAATAGGCTGTCCAC -3'

Posted On

2014-03-28