Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02743:Edrf1'

305992

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Edrf1

Ensembl Gene

ENSMUSG00000039990

Gene Name

erythroid differentiation regulatory factor 1

Synonyms

2700050L05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

IGL02743

Quality Score

Status

Chromosome

Chromosomal Location

133637543-133672971 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 133656491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051169] [ENSMUST00000128901] [ENSMUST00000138370]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051169

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
low complexity region	219	237	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	467	477	N/A	INTRINSIC
low complexity region	529	549	N/A	INTRINSIC
low complexity region	1171	1184	N/A	INTRINSIC
low complexity region	1229	1237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128901

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990

Domain	Start	End	E-Value	Type
low complexity region	8	29	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
low complexity region	219	237	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	433	443	N/A	INTRINSIC
low complexity region	495	515	N/A	INTRINSIC
low complexity region	1137	1150	N/A	INTRINSIC
low complexity region	1195	1203	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211072

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	A	C	5: 88,464,484	D188A	probably damaging	Het
Arfgef1	T	C	1: 10,199,829	E365G	probably benign	Het
Arhgef10	C	T	8: 14,930,198	A146V	probably benign	Het
AW554918	C	T	18: 25,289,944	Q151*	probably null	Het
Chd6	T	C	2: 160,960,263	D2217G	probably damaging	Het
Cntn5	T	A	9: 9,984,110	E166V	probably damaging	Het
Cyp4f15	T	C	17: 32,699,952	S319P	possibly damaging	Het
Dna2	G	A	10: 62,957,042	V279I	possibly damaging	Het
Fmo3	A	T	1: 162,958,483	F313I	probably damaging	Het
Kcnj10	A	G	1: 172,369,654	D245G	possibly damaging	Het
Lrsam1	T	C	2: 32,928,649		probably null	Het
Mfn1	A	T	3: 32,574,290	H690L	probably benign	Het
Msh2	T	C	17: 87,707,215	F474L	probably damaging	Het
Nlrp4a	T	G	7: 26,459,815		probably benign	Het
Olfr1295	T	A	2: 111,564,543	R300S	possibly damaging	Het
Olfr1424	A	G	19: 12,059,447	F102L	probably damaging	Het
Olfr314	T	A	11: 58,786,780	L182*	probably null	Het
Olfr561	T	A	7: 102,775,298	I258N	probably damaging	Het
Olfr668	T	C	7: 104,924,868	T299A	probably damaging	Het
Olfr955	G	A	9: 39,470,246	T160I	probably benign	Het
Plcxd3	G	A	15: 4,574,803	V298I	possibly damaging	Het
Prrc2b	C	T	2: 32,194,429	S302F	probably damaging	Het
Serpine2	A	T	1: 79,801,555	F149I	probably damaging	Het
Slc24a5	T	C	2: 125,088,234	L485P	probably damaging	Het
Spg11	T	A	2: 122,059,507	H2118L	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stxbp1	T	C	2: 32,819,901	D60G	probably damaging	Het
Themis2	T	A	4: 132,783,484	E582D	probably benign	Het
Tmem131	T	G	1: 36,793,151	I1802L	probably benign	Het
Tnrc6a	A	G	7: 123,171,473	K829E	probably damaging	Het
Usp8	T	C	2: 126,734,023	M213T	probably damaging	Het
Wnk2	A	G	13: 49,095,444	V377A	probably damaging	Het
Wwox	T	G	8: 115,351,704	Y375D	probably damaging	Het

Other mutations in Edrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Edrf1	APN	7	133658553	nonsense	probably null
IGL01637:Edrf1	APN	7	133650525	missense	probably damaging	1.00
IGL01697:Edrf1	APN	7	133643730	missense	probably benign	0.02
IGL01893:Edrf1	APN	7	133657102	missense	probably benign	0.09
IGL02202:Edrf1	APN	7	133656970	missense	probably benign	0.00
IGL02278:Edrf1	APN	7	133657000	missense	probably benign	0.00
IGL02382:Edrf1	APN	7	133650615	splice site	probably benign
R0265:Edrf1	UTSW	7	133657045	missense	probably damaging	1.00
R0282:Edrf1	UTSW	7	133644022	missense	probably benign	0.21
R1167:Edrf1	UTSW	7	133644066	missense	probably benign	0.08
R1633:Edrf1	UTSW	7	133652140	missense	probably damaging	1.00
R2039:Edrf1	UTSW	7	133653949	nonsense	probably null
R2060:Edrf1	UTSW	7	133657129	nonsense	probably null
R2920:Edrf1	UTSW	7	133667572	missense	probably benign	0.00
R4770:Edrf1	UTSW	7	133658610	missense	probably damaging	0.99
R4887:Edrf1	UTSW	7	133658610	missense	probably damaging	0.99
R4888:Edrf1	UTSW	7	133658610	missense	probably damaging	0.99
R5135:Edrf1	UTSW	7	133651044	missense	probably benign	0.03
R5156:Edrf1	UTSW	7	133660179	missense	probably damaging	1.00
R5290:Edrf1	UTSW	7	133650566	missense	probably damaging	0.98
R5342:Edrf1	UTSW	7	133651910	splice site	probably null
R5416:Edrf1	UTSW	7	133641402	missense	possibly damaging	0.52
R5450:Edrf1	UTSW	7	133658610	missense	probably damaging	0.99
R5906:Edrf1	UTSW	7	133663415	missense	probably benign
R6272:Edrf1	UTSW	7	133637808	start gained	probably benign
R6275:Edrf1	UTSW	7	133667582	missense	possibly damaging	0.60
R7144:Edrf1	UTSW	7	133637849	missense	probably benign
R7244:Edrf1	UTSW	7	133654350	missense	probably benign	0.01
R7716:Edrf1	UTSW	7	133643726	missense	probably damaging	0.99
R8193:Edrf1	UTSW	7	133661877	missense	possibly damaging	0.95
R8197:Edrf1	UTSW	7	133647359	missense	probably benign	0.41
R8553:Edrf1	UTSW	7	133650318	missense	possibly damaging	0.88
R8710:Edrf1	UTSW	7	133643766	missense	probably damaging	1.00
R8839:Edrf1	UTSW	7	133653915	missense	probably benign	0.00
R9035:Edrf1	UTSW	7	133643702	missense	probably damaging	0.97
R9051:Edrf1	UTSW	7	133671478	missense	probably benign	0.00
R9121:Edrf1	UTSW	7	133657041	frame shift	probably null
R9396:Edrf1	UTSW	7	133660109	missense	possibly damaging	0.79
R9551:Edrf1	UTSW	7	133639013	missense	probably damaging	1.00
R9552:Edrf1	UTSW	7	133639013	missense	probably damaging	1.00

Posted On

2015-04-16