Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01111:Edrf1'

51567

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: 0.939) question?

Stock #

IGL01111

Quality Score

Status

Chromosome

Chromosomal Location

133637543-133672971 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 133658553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 64 (Y64*)

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 null
Transcript: ENSMUST00000051169
AA Change: Y834*

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: Y834*

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 null
Transcript: ENSMUST00000128901
AA Change: Y800*

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: Y800*

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 null
Transcript: ENSMUST00000138370
AA Change: Y64*

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	G	T	2: 130,736,598	D655E	possibly damaging	Het
Ammecr1l	T	A	18: 31,772,070	Y121*	probably null	Het
Apc	C	T	18: 34,315,136	T1661I	possibly damaging	Het
Ccdc13	T	C	9: 121,810,084		probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cpt1c	T	C	7: 44,965,554	H325R	possibly damaging	Het
Cyp2a22	T	C	7: 26,936,458	K227E	probably damaging	Het
Ddx10	T	C	9: 53,159,948	K682E	possibly damaging	Het
Dlg2	T	C	7: 91,449,763	Y123H	possibly damaging	Het
Dnah11	A	T	12: 118,142,934		probably benign	Het
Dpysl2	T	C	14: 66,834,232	E153G	probably damaging	Het
Ephb2	A	T	4: 136,657,410	S897T	probably benign	Het
Flt1	A	G	5: 147,578,336	I1092T	probably damaging	Het
Gabra4	T	C	5: 71,633,629	Y290C	probably damaging	Het
Gm853	T	A	4: 130,221,725	D10V	probably benign	Het
Hectd2	A	T	19: 36,597,120	H67L	probably damaging	Het
Itgb2	T	C	10: 77,542,000	L11P	probably damaging	Het
Jmy	T	C	13: 93,441,021	R880G	probably damaging	Het
Klhl2	A	G	8: 64,749,047	C532R	probably damaging	Het
Kpna1	A	G	16: 36,012,889		probably benign	Het
L3mbtl2	T	C	15: 81,684,898	V591A	possibly damaging	Het
Lepr	A	T	4: 101,814,655	N959Y	possibly damaging	Het
Man1a	A	T	10: 53,977,013		probably benign	Het
Mov10	A	T	3: 104,801,405	S431T	possibly damaging	Het
Mx2	A	T	16: 97,558,719	Q563L	probably benign	Het
Nrap	A	T	19: 56,345,558	Y874N	probably damaging	Het
Nup160	T	C	2: 90,733,209	I1373T	probably benign	Het
Nwd2	A	T	5: 63,807,300	D1409V	probably damaging	Het
Obsl1	A	T	1: 75,497,145	V744E	possibly damaging	Het
Olfr630	T	A	7: 103,755,373	T71S	probably benign	Het
Pgap1	T	C	1: 54,530,943	K315R	probably benign	Het
Rab8a	T	C	8: 72,175,856	V114A	probably damaging	Het
Sh2d6	T	C	6: 72,519,829	T73A	probably benign	Het
Shroom1	A	G	11: 53,464,048	E265G	probably damaging	Het
Slc8b1	G	A	5: 120,532,935	V529M	probably damaging	Het
Srbd1	G	T	17: 86,098,533	A613E	probably benign	Het
Stat1	G	A	1: 52,142,961		probably null	Het
Tbck	A	G	3: 132,694,407	H73R	probably damaging	Het
Thg1l	A	T	11: 45,948,224	D220E	probably damaging	Het
Ttn	C	T	2: 76,778,323	G16037D	probably damaging	Het
Unc13b	A	G	4: 43,096,927	E100G	possibly damaging	Het
Vmn2r81	T	A	10: 79,247,997	D68E	probably benign	Het
Xpo6	T	C	7: 126,129,568	T505A	probably benign	Het
Zfp976	T	C	7: 42,616,287	K25E	probably damaging	Het

Other mutations in Edrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21