Mutagenetix > Incidental Mutation

Incidental Mutation 'R9121:Edrf1'

692779

Institutional Source

Beutler Lab

Gene Symbol

Edrf1

Ensembl Gene

ENSMUSG00000039990

Gene Name

erythroid differentiation regulatory factor 1

Synonyms

2700050L05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R9121 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

133637543-133672971 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

CGG to CG at 133657041 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000059166 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
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 null
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (44/44)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	T	13: 68,671,959	N720K	probably benign	Het
Ampd1	C	T	3: 103,098,682	Q603*	probably null	Het
Arap2	G	A	5: 62,748,983	T231M	possibly damaging	Het
Atp2b4	TCT	TCTGCT	1: 133,701,725		probably benign	Het
Cap1	C	T	4: 122,867,723	R122Q	probably damaging	Het
Cdh10	G	A	15: 19,010,988	V586M	probably damaging	Het
Clvs2	A	T	10: 33,513,335	V303E	possibly damaging	Het
Cnnm3	C	A	1: 36,524,077	C707*	probably null	Het
Crtc3	A	G	7: 80,592,575	F497L	probably damaging	Het
Csmd3	T	C	15: 47,820,378	Y949C		Het
D5Ertd579e	A	T	5: 36,615,434	I539N	probably damaging	Het
Dctpp1	T	C	7: 127,257,284	R89G	probably damaging	Het
Dnah7c	T	A	1: 46,665,490	V2221E	probably damaging	Het
Dnah7c	C	A	1: 46,777,736	L3628I	probably benign	Het
E030025P04Rik	A	G	11: 109,143,912	F50S	unknown	Het
Epb41l1	T	G	2: 156,522,567	S999A	probably benign	Het
Fbxw10	T	A	11: 62,847,327	C16S	possibly damaging	Het
Fbxw19	G	A	9: 109,495,822	P9L	probably damaging	Het
Gpi1	A	T	7: 34,207,689	Y327N	probably damaging	Het
Hook3	A	G	8: 26,035,167	L637P	probably damaging	Het
Idh3a	T	C	9: 54,586,545		probably null	Het
Ighv1-56	T	A	12: 115,243,014	T47S	probably benign	Het
Iglc2	A	C	16: 19,198,544	C103G	probably damaging	Het
Mbd5	A	G	2: 49,258,090	T771A	possibly damaging	Het
Mcm2	C	A	6: 88,884,037	R893L	probably benign	Het
Mettl15	A	T	2: 109,274,603	V19E		Het
Mier2	G	A	10: 79,541,760	A453V		Het
Mlf1	T	C	3: 67,399,721	S255P	probably benign	Het
Obsl1	T	C	1: 75,505,992	D78G	possibly damaging	Het
Olfr1137	T	A	2: 87,711,631	I92F	probably damaging	Het
Olfr922	T	A	9: 38,815,680	M59K	probably damaging	Het
Otof	T	C	5: 30,379,118	K1340E	probably benign	Het
Pla2g4c	A	G	7: 13,357,085	D589G	probably damaging	Het
Qrfpr	A	G	3: 36,181,007	V278A	probably damaging	Het
Qrich2	T	A	11: 116,456,446	H1184L	unknown	Het
Rnaset2a	A	G	17: 8,128,717	F250S	possibly damaging	Het
Sfrp5	T	C	19: 42,201,917	Y32C	probably damaging	Het
Slc44a3	A	G	3: 121,461,137	S611P	probably benign	Het
Slco1a1	C	A	6: 141,946,816		probably benign	Het
Synj2	A	T	17: 5,990,324	D225V	probably damaging	Het
Tacc1	G	T	8: 25,169,239	S570R	probably damaging	Het
Trim7	T	A	11: 48,849,847	L257Q	probably damaging	Het
Trpm8	T	A	1: 88,384,701	N1101K	probably benign	Het
Unc79	C	T	12: 103,001,836	T107M	probably damaging	Het
Usp54	A	G	14: 20,581,455		probably null	Het
Zzef1	T	A	11: 72,866,120	Y1150*	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAAGAATGTGAAGCCCTGTGC -3'
(R):5'- CCTGACACTTTTGCAGCATAC -3'

Sequencing Primer
(F):5'- TGAAGCCCTGTGCCACCTG -3'
(R):5'- TACTCCCTGAGCTGAACAGATTATC -3'

Posted On

2021-12-30