Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02197:Myef2'

284104

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 #

IGL02197

Quality Score

Status

Chromosome

Chromosomal Location

124926548-124965581 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 124955959 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 null
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 null
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 null
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 null
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 null
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 null
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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	T	C	2: 20,885,117 (GRCm39)	S526G	probably benign	Het
Atad2b	A	T	12: 5,068,056 (GRCm39)	N1018I	possibly damaging	Het
Baz1b	A	G	5: 135,237,951 (GRCm39)	E209G	probably benign	Het
Bltp1	A	G	3: 36,960,884 (GRCm39)	T445A	probably damaging	Het
Capn11	T	A	17: 45,950,782 (GRCm39)	T264S	probably benign	Het
Cdh1	A	G	8: 107,380,418 (GRCm39)	E187G	probably benign	Het
Cps1	A	G	1: 67,196,923 (GRCm39)	I325V	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dmbt1	A	G	7: 130,687,152 (GRCm39)		probably benign	Het
Dnaaf3	T	C	7: 4,530,496 (GRCm39)	D203G	probably damaging	Het
Eif2ak3	A	G	6: 70,878,441 (GRCm39)	Y1045C	probably benign	Het
Fam13a	T	A	6: 58,912,586 (GRCm39)	D689V	possibly damaging	Het
Fnip1	T	A	11: 54,384,200 (GRCm39)	L342I	probably damaging	Het
Frk	T	A	10: 34,360,330 (GRCm39)	N110K	probably damaging	Het
Gm5134	T	C	10: 75,790,536 (GRCm39)		probably null	Het
Gm53	T	C	11: 96,142,549 (GRCm39)		noncoding transcript	Het
Gm9312	A	T	12: 24,302,163 (GRCm39)		noncoding transcript	Het
Gm9936	A	G	5: 114,995,152 (GRCm39)		probably benign	Het
Hk3	A	G	13: 55,162,281 (GRCm39)	F108L	probably damaging	Het
Homer2	A	T	7: 81,260,147 (GRCm39)	S296T	probably benign	Het
Itga2b	T	A	11: 102,357,145 (GRCm39)	H245L	probably benign	Het
Ky	T	C	9: 102,414,985 (GRCm39)	F299S	possibly damaging	Het
Lama5	A	G	2: 179,849,012 (GRCm39)	Y224H	possibly damaging	Het
Leng9	G	T	7: 4,151,723 (GRCm39)	L318I	probably damaging	Het
Lpin1	A	G	12: 16,608,408 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,297,224 (GRCm39)	I3246V	probably benign	Het
Map2k3	A	G	11: 60,837,590 (GRCm39)	Y230C	probably damaging	Het
Myh3	A	T	11: 66,989,409 (GRCm39)	I1510L	probably benign	Het
Mypn	T	C	10: 62,959,057 (GRCm39)	D1088G	possibly damaging	Het
Nek9	C	A	12: 85,354,704 (GRCm39)	V745L	probably null	Het
Neu1	T	A	17: 35,153,641 (GRCm39)	V355D	possibly damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Or4c107	A	G	2: 88,789,028 (GRCm39)	T73A	probably benign	Het
Or6e1	T	C	14: 54,519,409 (GRCm39)	*314W	probably null	Het
Papola	A	T	12: 105,795,442 (GRCm39)	N631I	possibly damaging	Het
Pcnx1	T	C	12: 81,965,878 (GRCm39)	S682P	probably benign	Het
Pcnx1	T	C	12: 82,039,925 (GRCm39)	S2071P	possibly damaging	Het
Pga5	A	G	19: 10,649,277 (GRCm39)		probably benign	Het
Phlda1	T	A	10: 111,343,014 (GRCm39)	M250K	probably damaging	Het
Phox2b	A	G	5: 67,253,869 (GRCm39)		probably benign	Het
Pkdrej	A	G	15: 85,699,994 (GRCm39)	Y1981H	possibly damaging	Het
Pold1	G	A	7: 44,191,663 (GRCm39)	P108S	probably benign	Het
Ptprg	T	G	14: 12,220,613 (GRCm38)	F442V	probably damaging	Het
Rab36	A	G	10: 74,887,874 (GRCm39)	I248M	probably damaging	Het
Scnn1b	G	A	7: 121,502,113 (GRCm39)	R257Q	probably null	Het
Sdc1	A	G	12: 8,840,835 (GRCm39)	Q200R	possibly damaging	Het
Slc10a7	A	G	8: 79,242,292 (GRCm39)	T60A	probably damaging	Het
Snx13	A	G	12: 35,156,800 (GRCm39)	D484G	probably damaging	Het
Tlr1	G	A	5: 65,083,797 (GRCm39)	T260M	probably damaging	Het
Tpcn1	A	G	5: 120,691,596 (GRCm39)	V286A	probably damaging	Het
Traip	T	G	9: 107,845,936 (GRCm39)	L343R	possibly damaging	Het
Unc13b	A	G	4: 43,165,828 (GRCm39)	H204R	probably damaging	Het
Unc80	A	G	1: 66,569,224 (GRCm39)	S960G	probably benign	Het
V1ra8	C	T	6: 90,180,184 (GRCm39)	P129L	probably benign	Het
Vps13b	T	A	15: 35,930,202 (GRCm39)	F3980I	probably benign	Het
Vps13d	T	C	4: 144,854,879 (GRCm39)	N2248S	probably benign	Het
Vps26c	G	T	16: 94,302,549 (GRCm39)		probably benign	Het
Wnk4	T	C	11: 101,154,783 (GRCm39)	L324P	probably damaging	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
IGL02525:Myef2	APN	2	124,955,978 (GRCm39)	splice site	probably benign
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