Mutagenetix > Incidental Mutation

Incidental Mutation 'R2039:Edrf1'

225427

Institutional Source

Beutler Lab

Gene Symbol

Edrf1

Ensembl Gene

ENSMUSG00000039990

Gene Name

erythroid differentiation regulatory factor 1

Synonyms

2700050L05Rik

MMRRC Submission

040046-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R2039 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133637543-133672971 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 133653949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 574 (Y574*)

Ref Sequence

ENSEMBL: ENSMUSP00000115641 (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: Y608*

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: Y608*

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: Y574*

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: Y574*

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

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (45/47)

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
4932415D10Rik	A	G	10: 82,284,676	S4167P	probably damaging	Het
4932438A13Rik	T	A	3: 37,003,878	F3206I	possibly damaging	Het
A2m	C	A	6: 121,659,949	T757K	probably benign	Het
Abca14	T	C	7: 120,312,264	V1357A	probably damaging	Het
Abca5	A	G	11: 110,299,929	F785S	probably damaging	Het
Arntl	T	G	7: 113,285,112	L119R	probably damaging	Het
Cacna1h	T	C	17: 25,391,845	I554V	probably benign	Het
Cuzd1	T	C	7: 131,309,616	S545G	probably benign	Het
Cuzd1	A	T	7: 131,314,914		probably benign	Het
Eef1d	T	C	15: 75,895,769	D252G	probably damaging	Het
Efna5	T	G	17: 62,881,066	D22A	probably benign	Het
Esyt1	C	T	10: 128,511,951	V957I	probably benign	Het
Etl4	T	C	2: 20,785,228	S881P	probably damaging	Het
Exoc3	A	G	13: 74,192,977	I236T	probably benign	Het
Fam19a1	C	A	6: 96,654,764		probably null	Het
Far2	T	C	6: 148,165,577	L320S	probably benign	Het
Fsd1l	T	A	4: 53,679,972	D223E	probably benign	Het
Fut1	C	T	7: 45,618,991	A123V	possibly damaging	Het
Gap43	A	T	16: 42,292,352	D15E	possibly damaging	Het
Gm12789	T	C	4: 101,988,986		probably benign	Het
Gm5114	T	A	7: 39,409,188	T336S	probably damaging	Het
Hhla1	G	A	15: 65,936,377	T273I	possibly damaging	Het
Hira	A	G	16: 18,951,701	H812R	probably benign	Het
Hsp90aa1	T	C	12: 110,693,782	N360S	probably damaging	Het
Kmt2c	A	G	5: 25,329,040	L1463S	possibly damaging	Het
Lman2l	A	G	1: 36,428,454	F171S	probably damaging	Het
Lrfn5	T	C	12: 61,840,323	L299S	possibly damaging	Het
Msr1	A	T	8: 39,589,377	W386R	probably damaging	Het
Myo1e	T	C	9: 70,320,133	V162A	possibly damaging	Het
Npy6r	A	G	18: 44,276,003	T164A	probably benign	Het
Olfr677	T	C	7: 105,056,390	L48P	possibly damaging	Het
Rbak	C	A	5: 143,173,175	V708L	probably benign	Het
Rev3l	A	G	10: 39,824,444	I1646V	probably damaging	Het
Rsrc1	A	G	3: 66,994,618	T34A	unknown	Het
Sept9	G	A	11: 117,351,617	V53I	probably damaging	Het
Snrnp200	G	A	2: 127,234,984	A1646T	probably benign	Het
Sqor	G	A	2: 122,792,404		probably null	Het
St7	T	C	6: 17,886,112	Y358H	probably damaging	Het
Tas2r126	T	A	6: 42,434,623	M30K	probably benign	Het
Thsd7a	G	A	6: 12,408,923	T700I	possibly damaging	Het
Ttn	T	G	2: 76,868,466		probably benign	Het
Ugt1a10	T	G	1: 88,055,981	I167S	probably benign	Het
Uhmk1	T	C	1: 170,212,267	D88G	probably damaging	Het
Washc2	T	A	6: 116,224,439	F332Y	probably damaging	Het
Wdr48	T	A	9: 119,909,387	W38R	probably damaging	Het
Zfc3h1	A	G	10: 115,406,483	D622G	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGCTACACAGTCTTTTGTTAAGC -3'
(R):5'- ACAGCAGCATTTCTACCTCAG -3'

Sequencing Primer
(F):5'- GTTAAGCAAGATTTGAAACAGTGCTG -3'
(R):5'- GCAGCATTTCTACCTCAGATATTTAG -3'

Posted On

2014-08-25