Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02525:Myef2'

297078

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myef2

Ensembl Gene

ENSMUSG00000027201

Gene Name

myelin basic protein expression factor 2, repressor

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.221) question?

Stock #

IGL02525

Quality Score

Status

Chromosome

Chromosomal Location

124926548-124965581 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 124955978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067780] [ENSMUST00000110501] [ENSMUST00000142718] [ENSMUST00000147105] [ENSMUST00000152367]

AlphaFold

Q8C854

Predicted Effect

probably benign
Transcript: ENSMUST00000067780

SMART Domains

Protein: ENSMUSP00000066312
Gene: ENSMUSG00000027201

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	430	450	N/A	INTRINSIC
RRM	498	569	6.15e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000089825

SMART Domains

Protein: ENSMUSP00000087258
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	48	121	1.84e-22	SMART
low complexity region	154	167	N/A	INTRINSIC
RRM	181	253	5.12e-21	SMART
low complexity region	274	291	N/A	INTRINSIC
low complexity region	386	406	N/A	INTRINSIC
RRM	454	525	6.15e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110501

SMART Domains

Protein: ENSMUSP00000106127
Gene: ENSMUSG00000027201

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	430	450	N/A	INTRINSIC
RRM	498	569	6.15e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137091

SMART Domains

Protein: ENSMUSP00000123222
Gene: ENSMUSG00000027201

Domain	Start	End	E-Value	Type
RRM	58	131	1.84e-22	SMART
low complexity region	164	177	N/A	INTRINSIC
RRM	191	263	5.12e-21	SMART
low complexity region	284	301	N/A	INTRINSIC
low complexity region	317	342	N/A	INTRINSIC
low complexity region	348	376	N/A	INTRINSIC
internal_repeat_2	412	441	4.02e-9	PROSPERO
internal_repeat_3	419	444	2.53e-8	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000142718

SMART Domains

Protein: ENSMUSP00000115519
Gene: ENSMUSG00000027201

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	427	443	N/A	INTRINSIC
RRM	491	562	6.15e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147105

SMART Domains

Protein: ENSMUSP00000114817
Gene: ENSMUSG00000027201

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	410	426	N/A	INTRINSIC
RRM	474	545	6.15e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149911

Predicted Effect

probably benign
Transcript: ENSMUST00000152367

SMART Domains

Protein: ENSMUSP00000123088
Gene: ENSMUSG00000027201

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	447	467	N/A	INTRINSIC
RRM	515	586	6.15e-24	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	C	T	8: 25,101,060 (GRCm39)	V701I	probably benign	Het
Adam18	A	G	8: 25,131,783 (GRCm39)		probably benign	Het
Adamts20	G	T	15: 94,180,959 (GRCm39)		probably null	Het
Adgrf5	G	T	17: 43,760,854 (GRCm39)	V850F	probably damaging	Het
Agap2	T	A	10: 126,919,070 (GRCm39)		probably null	Het
Ap4b1	G	A	3: 103,720,164 (GRCm39)	R62K	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Ccdc12	T	A	9: 110,540,169 (GRCm39)	D120E	probably damaging	Het
Ccdc22	A	G	X: 7,461,249 (GRCm39)	S529P	probably damaging	Het
Cilk1	A	G	9: 78,067,675 (GRCm39)	K390E	probably benign	Het
Col1a2	A	G	6: 4,531,355 (GRCm39)		probably benign	Het
Ddx59	A	T	1: 136,344,743 (GRCm39)	Q138L	probably benign	Het
Dlc1	A	T	8: 37,046,800 (GRCm39)	F1091L	probably damaging	Het
Dnah1	C	T	14: 31,027,790 (GRCm39)	V682M	probably benign	Het
Dock9	C	T	14: 121,877,538 (GRCm39)	D404N	probably damaging	Het
Eif2b4	A	G	5: 31,346,962 (GRCm39)	V402A	probably damaging	Het
Erlin1	T	C	19: 44,027,634 (GRCm39)	H268R	probably benign	Het
Ermard	T	C	17: 15,279,601 (GRCm39)		probably benign	Het
Fam43a	A	G	16: 30,419,596 (GRCm39)	K60R	probably benign	Het
Frmd4b	T	A	6: 97,389,494 (GRCm39)	D78V	probably damaging	Het
Gabrq	A	G	X: 71,880,430 (GRCm39)	T308A	possibly damaging	Het
Gipr	A	G	7: 18,893,690 (GRCm39)	C328R	possibly damaging	Het
Gm17078	T	C	14: 51,848,680 (GRCm39)	N19S	possibly damaging	Het
Gm17541	T	C	12: 4,739,907 (GRCm39)		probably benign	Het
Gm21759	T	C	5: 8,229,967 (GRCm39)		probably benign	Het
Gm7964	A	G	7: 83,405,250 (GRCm39)		noncoding transcript	Het
Gspt1	A	G	16: 11,048,854 (GRCm39)	V318A	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,319 (GRCm39)	S526G	probably benign	Het
Hey2	A	G	10: 30,718,643 (GRCm39)	M1T	probably null	Het
Hipk3	T	C	2: 104,301,757 (GRCm39)	D145G	probably damaging	Het
Itgae	A	G	11: 73,021,777 (GRCm39)	D886G	probably damaging	Het
Ktn1	T	A	14: 47,962,200 (GRCm39)		probably null	Het
Med12l	A	G	3: 58,975,789 (GRCm39)	K239R	probably benign	Het
Milr1	A	T	11: 106,656,101 (GRCm39)	M124L	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Mterf1a	G	A	5: 3,941,583 (GRCm39)	S95F	probably benign	Het
Nfrkb	T	A	9: 31,325,812 (GRCm39)	I1085N	possibly damaging	Het
Or13f5	A	T	4: 52,825,616 (GRCm39)	Y73F	probably damaging	Het
Or8d2	T	A	9: 38,759,536 (GRCm39)	M42K	possibly damaging	Het
Prodh	G	A	16: 17,890,332 (GRCm39)	Q430*	probably null	Het
Pstk	G	T	7: 130,972,922 (GRCm39)	R7L	probably benign	Het
Ptgr1	C	A	4: 58,978,067 (GRCm39)	E108D	probably benign	Het
Ptpn9	T	A	9: 56,944,009 (GRCm39)	Y294*	probably null	Het
Rnls	C	T	19: 33,115,614 (GRCm39)	V153M	possibly damaging	Het
Ros1	T	C	10: 51,992,138 (GRCm39)	T1362A	possibly damaging	Het
Samt3	G	A	X: 85,090,527 (GRCm39)	A140T	possibly damaging	Het
Sbpl	T	A	17: 24,173,837 (GRCm39)	M16L	unknown	Het
Sephs1	G	A	2: 4,911,407 (GRCm39)	C327Y	probably damaging	Het
Slc13a1	A	T	6: 24,137,135 (GRCm39)	I93N	probably damaging	Het
Slc34a1	T	C	13: 55,551,051 (GRCm39)		probably benign	Het
Slc7a9	T	C	7: 35,152,860 (GRCm39)	S93P	probably damaging	Het
Slx4	A	G	16: 3,798,461 (GRCm39)	S1444P	probably damaging	Het
Spmap2l	T	A	5: 77,164,400 (GRCm39)	D134E	probably benign	Het
Stk32b	C	T	5: 37,688,977 (GRCm39)	V116M	probably damaging	Het
Supt5	A	G	7: 28,018,372 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,147,777 (GRCm39)	S6439T	probably damaging	Het
Taar7d	A	G	10: 23,903,994 (GRCm39)	D292G	possibly damaging	Het
Tal2	A	T	4: 53,785,971 (GRCm39)	I51F	probably damaging	Het
Tk2	A	T	8: 104,970,032 (GRCm39)	N77K	probably benign	Het
Tmprss3	T	A	17: 31,413,865 (GRCm39)		probably benign	Het
Tnfrsf10b	T	C	14: 70,019,825 (GRCm39)	M319T	probably damaging	Het
Trim24	A	G	6: 37,922,653 (GRCm39)	R417G	probably damaging	Het
Ttn	C	A	2: 76,594,658 (GRCm39)	G18717*	probably null	Het
Vmn2r102	A	G	17: 19,901,447 (GRCm39)	T525A	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wnt3	C	T	11: 103,703,296 (GRCm39)	R260W	probably damaging	Het
Xdh	T	A	17: 74,231,990 (GRCm39)	Q240L	possibly damaging	Het
Zbtb5	T	C	4: 44,994,731 (GRCm39)	T218A	probably benign	Het
Znfx1	C	T	2: 166,879,457 (GRCm39)	E776K	probably benign	Het

Other mutations in Myef2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Myef2	APN	2	124,957,395 (GRCm39)	missense	probably damaging	1.00
IGL01116:Myef2	APN	2	124,940,402 (GRCm39)	missense	probably damaging	0.99
IGL02197:Myef2	APN	2	124,955,959 (GRCm39)	splice site	probably null
IGL02554:Myef2	APN	2	124,942,345 (GRCm39)	splice site	probably null
IGL03027:Myef2	APN	2	124,930,954 (GRCm39)	missense	possibly damaging	0.89
R0009:Myef2	UTSW	2	124,950,898 (GRCm39)	missense	probably benign	0.03
R0510:Myef2	UTSW	2	124,950,954 (GRCm39)	splice site	probably benign
R0583:Myef2	UTSW	2	124,939,901 (GRCm39)	splice site	probably null
R1112:Myef2	UTSW	2	124,939,506 (GRCm39)	missense	probably damaging	1.00
R1656:Myef2	UTSW	2	124,939,860 (GRCm39)	splice site	probably null
R1682:Myef2	UTSW	2	124,939,978 (GRCm39)	missense	probably damaging	0.97
R1769:Myef2	UTSW	2	124,957,363 (GRCm39)	missense	probably damaging	1.00
R1983:Myef2	UTSW	2	124,940,765 (GRCm39)	missense	probably benign	0.00
R2175:Myef2	UTSW	2	124,940,375 (GRCm39)	missense	probably damaging	0.99
R4261:Myef2	UTSW	2	124,957,399 (GRCm39)	missense	possibly damaging	0.77
R4643:Myef2	UTSW	2	124,958,731 (GRCm39)	missense	possibly damaging	0.78
R4712:Myef2	UTSW	2	124,930,757 (GRCm39)	intron	probably benign
R4914:Myef2	UTSW	2	124,951,659 (GRCm39)	nonsense	probably null
R5276:Myef2	UTSW	2	124,937,641 (GRCm39)	missense	probably damaging	1.00
R5507:Myef2	UTSW	2	124,958,623 (GRCm39)	missense	probably benign	0.17
R5930:Myef2	UTSW	2	124,937,651 (GRCm39)	nonsense	probably null
R6335:Myef2	UTSW	2	124,951,632 (GRCm39)	missense	probably damaging	1.00
R6502:Myef2	UTSW	2	124,958,602 (GRCm39)	missense	probably damaging	1.00
R7201:Myef2	UTSW	2	124,938,082 (GRCm39)	splice site	probably null
R7421:Myef2	UTSW	2	124,952,537 (GRCm39)	missense	probably benign	0.03
R7619:Myef2	UTSW	2	124,965,396 (GRCm39)	missense	probably benign
R9623:Myef2	UTSW	2	124,957,377 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16