Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03027:Myef2'

408219

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: 0.187) question?

Stock #

IGL03027

Quality Score

Status

Chromosome

Chromosomal Location

124926548-124965581 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124930954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 539 (H539L)

Ref Sequence

ENSEMBL: ENSMUSP00000123088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067780] [ENSMUST00000070353] [ENSMUST00000110501] [ENSMUST00000142718] [ENSMUST00000147105] [ENSMUST00000152367]

AlphaFold

Q8C854

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067780
AA Change: H522L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066312
Gene: ENSMUSG00000027201
AA Change: H522L

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: ENSMUST00000070353

SMART Domains

Protein: ENSMUSP00000063887
Gene: ENSMUSG00000035183

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Na_Ca_ex	72	216	1.1e-24	PFAM
low complexity region	274	290	N/A	INTRINSIC
low complexity region	311	324	N/A	INTRINSIC
Pfam:Na_Ca_ex	334	485	7.6e-31	PFAM
low complexity region	488	500	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000089825
AA Change: H477L

SMART Domains

Protein: ENSMUSP00000087258
Gene: ENSMUSG00000027201
AA Change: H477L

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

possibly damaging
Transcript: ENSMUST00000110501
AA Change: H522L

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106127
Gene: ENSMUSG00000027201
AA Change: H522L

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

noncoding transcript
Transcript: ENSMUST00000129945

Predicted Effect

probably benign
Transcript: ENSMUST00000142718
AA Change: H515L

PolyPhen 2 Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115519
Gene: ENSMUSG00000027201
AA Change: H515L

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

possibly damaging
Transcript: ENSMUST00000147105
AA Change: H498L

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114817
Gene: ENSMUSG00000027201
AA Change: H498L

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

possibly damaging
Transcript: ENSMUST00000152367
AA Change: H539L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123088
Gene: ENSMUSG00000027201
AA Change: H539L

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	A	T	17: 43,607,605 (GRCm39)	Y108F	probably damaging	Het
Afap1	T	C	5: 36,119,094 (GRCm39)	I243T	probably benign	Het
Ano5	A	G	7: 51,216,025 (GRCm39)	D320G	probably damaging	Het
Arhgef1	T	A	7: 24,623,157 (GRCm39)	I423K	probably damaging	Het
Casp9	A	G	4: 141,539,584 (GRCm39)	E410G	probably benign	Het
Ccdc39	A	C	3: 33,884,267 (GRCm39)	H358Q	probably benign	Het
Ces5a	A	T	8: 94,249,742 (GRCm39)		probably null	Het
Clip1	A	T	5: 123,759,919 (GRCm39)	M935K	probably benign	Het
Col12a1	A	G	9: 79,548,833 (GRCm39)	Y2171H	probably benign	Het
Cyp2f2	A	T	7: 26,831,996 (GRCm39)	N417I	possibly damaging	Het
Dock3	G	A	9: 106,870,677 (GRCm39)	P579L	probably damaging	Het
Dock7	T	C	4: 98,866,164 (GRCm39)	M1209V	probably benign	Het
Dock7	T	C	4: 98,958,450 (GRCm39)	T334A	possibly damaging	Het
Dst	A	T	1: 34,225,106 (GRCm39)	I1171F	possibly damaging	Het
Eya1	G	T	1: 14,241,190 (GRCm39)	H576N	probably damaging	Het
Fam117a	A	G	11: 95,268,399 (GRCm39)	T267A	probably benign	Het
Fam43a	C	T	16: 30,419,922 (GRCm39)	R169C	probably damaging	Het
Gabra6	T	C	11: 42,205,980 (GRCm39)	H291R	probably damaging	Het
Gm7145	T	C	1: 117,895,417 (GRCm39)	S27P	probably benign	Het
Gpt	C	T	15: 76,582,289 (GRCm39)		probably benign	Het
Grip2	A	G	6: 91,755,852 (GRCm39)	I586T	probably benign	Het
Hif1a	C	T	12: 73,987,251 (GRCm39)	P448L	probably benign	Het
Hmcn1	C	T	1: 150,684,290 (GRCm39)	V427I	probably benign	Het
Ipo8	C	A	6: 148,678,737 (GRCm39)	V954L	probably benign	Het
Kdm5a	G	T	6: 120,351,951 (GRCm39)		probably null	Het
Klhl36	T	A	8: 120,603,229 (GRCm39)	S495T	probably benign	Het
Lpar5	T	A	6: 125,059,203 (GRCm39)	L308Q	probably damaging	Het
Lrp2	T	G	2: 69,367,897 (GRCm39)	D205A	probably benign	Het
Lrriq1	A	G	10: 103,063,057 (GRCm39)	I83T	probably benign	Het
Mapk8ip2	A	T	15: 89,342,310 (GRCm39)	D507V	probably damaging	Het
Mical1	T	C	10: 41,355,501 (GRCm39)		probably benign	Het
Myh7	T	C	14: 55,221,007 (GRCm39)	E972G	probably damaging	Het
Naip5	A	G	13: 100,359,524 (GRCm39)	Y571H	probably benign	Het
Nfasc	T	A	1: 132,538,207 (GRCm39)	N478I	probably damaging	Het
Or6c1b	A	G	10: 129,272,780 (GRCm39)	Y33C	probably damaging	Het
Pde2a	A	T	7: 101,130,627 (GRCm39)	Q89L	probably benign	Het
Ppard	C	A	17: 28,518,765 (GRCm39)	T422K	possibly damaging	Het
Ppp1r13b	G	T	12: 111,796,830 (GRCm39)	Y904*	probably null	Het
Ptx4	T	A	17: 25,344,022 (GRCm39)	I424K	possibly damaging	Het
Rab19	A	G	6: 39,360,927 (GRCm39)	D25G	probably damaging	Het
Rbl2	T	A	8: 91,805,534 (GRCm39)	I197N	possibly damaging	Het
Rttn	A	G	18: 88,997,814 (GRCm39)	D273G	probably damaging	Het
Sec16a	G	A	2: 26,313,601 (GRCm39)	R1920C	probably benign	Het
Sec23b	A	T	2: 144,429,465 (GRCm39)	N731I	possibly damaging	Het
Serpinb9d	G	A	13: 33,386,698 (GRCm39)	W255*	probably null	Het
Sim2	G	A	16: 93,910,351 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,920,167 (GRCm39)		probably null	Het
Tmem176b	C	T	6: 48,812,573 (GRCm39)	A131T	probably damaging	Het
Tmem181a	T	A	17: 6,348,494 (GRCm39)	V332D	probably damaging	Het
Trgc1	G	T	13: 19,398,563 (GRCm39)	G97*	probably null	Het
Tuba3b	T	A	6: 145,565,117 (GRCm39)	L195Q	probably damaging	Het
Ubc	A	T	5: 125,464,565 (GRCm39)	V254D	probably damaging	Het
Ube4b	G	T	4: 149,465,734 (GRCm39)	P239T	probably damaging	Het
Vars1	G	T	17: 35,232,663 (GRCm39)	M862I	probably damaging	Het
Vmn2r66	T	C	7: 84,644,777 (GRCm39)		probably benign	Het
Wdr59	G	A	8: 112,188,824 (GRCm39)	A720V	probably damaging	Het
Zfhx3	G	A	8: 109,519,820 (GRCm39)	R314Q	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
IGL02197:Myef2	APN	2	124,955,959 (GRCm39)	splice site	probably null
IGL02525:Myef2	APN	2	124,955,978 (GRCm39)	splice site	probably benign
IGL02554:Myef2	APN	2	124,942,345 (GRCm39)	splice site	probably null
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

2016-08-02