Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02382:Edrf1'

291429

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: 0.925) question?

Stock #

IGL02382

Quality Score

Status

Chromosome

Chromosomal Location

133637543-133672971 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 133650615 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115641 (fasta)

Gene Model

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

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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	A	G	1: 173,459,749		probably null	Het
Aoc2	T	C	11: 101,326,672	L527P	probably damaging	Het
Arhgef15	C	A	11: 68,954,030	R247L	probably damaging	Het
Armcx2	T	C	X: 134,805,667	T406A	probably benign	Het
Armcx5	T	C	X: 135,746,828	F551S	probably damaging	Het
Ccrl2	T	C	9: 111,055,879	K184E	probably benign	Het
Cenpe	A	G	3: 135,247,386	I1534V	probably benign	Het
Cflar	T	A	1: 58,752,681	I381K	probably benign	Het
Crb1	T	A	1: 139,237,614	N924I	probably damaging	Het
Crebbp	A	G	16: 4,108,070	V729A	probably damaging	Het
Dab2	T	A	15: 6,436,987	V615D	possibly damaging	Het
Ep400	G	A	5: 110,701,728	T1409I	unknown	Het
Gm14406	C	A	2: 177,569,195		probably benign	Het
Kptn	T	A	7: 16,124,020	S258T	probably benign	Het
Mbnl1	G	T	3: 60,625,142	E291*	probably null	Het
Mcm4	A	T	16: 15,624,738	L843Q	probably damaging	Het
Mgrn1	A	G	16: 4,922,618	N274D	probably damaging	Het
Olfr26	G	A	9: 38,855,068	G2D	probably benign	Het
Olfr532	T	A	7: 140,419,603	T57S	possibly damaging	Het
Phactr4	A	T	4: 132,370,841	V335E	probably damaging	Het
Ptgr2	T	C	12: 84,313,948	S331P	probably damaging	Het
Ranbp9	T	C	13: 43,436,146		probably null	Het
Setd5	A	G	6: 113,143,640	T937A	probably benign	Het
Slc27a4	C	T	2: 29,809,843	R265C	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tenm3	A	G	8: 48,235,476	Y2359H	probably damaging	Het
Tnip3	T	C	6: 65,614,795		probably null	Het
Zfc3h1	C	T	10: 115,416,876	Q1365*	probably null	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
IGL02743:Edrf1	APN	7	133656491	unclassified	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