Mutagenetix > Incidental Mutation

Incidental Mutation 'R8710:Edrf1'

669503

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 #

R8710 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133637543-133672971 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133643766 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 211 (Y211C)

Ref Sequence

ENSEMBL: ENSMUSP00000059166 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000051169
AA Change: Y211C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: Y211C

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 damaging
Transcript: ENSMUST00000128901
AA Change: Y211C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: Y211C

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (68/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030025P20Rik	A	T	17: 14,988,932	N342I	probably damaging	Het
Abcb4	A	G	5: 8,955,495	N1126S	probably damaging	Het
Ablim2	C	T	5: 35,873,174	A581V	possibly damaging	Het
Agpat5	T	A	8: 18,878,089	D223E	possibly damaging	Het
Anks3	A	C	16: 4,958,112	Y75*	probably null	Het
Ano5	T	G	7: 51,593,671	D847E	probably damaging	Het
Asb6	G	T	2: 30,827,060	T51K	probably benign	Het
Bahcc1	A	G	11: 120,284,127	E1702G	probably damaging	Het
Bend7	A	G	2: 4,763,114	M294V	probably benign	Het
Cadm1	T	A	9: 47,848,168	D392E	probably damaging	Het
Camkmt	T	C	17: 85,113,849		probably benign	Het
Cd300a	A	G	11: 114,894,675	T149A	probably benign	Het
Cd69	A	T	6: 129,269,610	W153R	possibly damaging	Het
Cdc25c	T	A	18: 34,749,613		probably benign	Het
Clnk	A	C	5: 38,774,597	C40W	possibly damaging	Het
Cthrc1	T	A	15: 39,084,426	L180Q	probably damaging	Het
Cyld	A	G	8: 88,709,895	N271S	probably damaging	Het
Dnah14	T	C	1: 181,690,311	I2070T	probably benign	Het
Dnah17	A	C	11: 118,042,147	L3595R	probably damaging	Het
Efcab6	A	G	15: 84,018,648	I167T	probably benign	Het
Elavl3	A	T	9: 22,026,553	Y148N	probably damaging	Het
Fam83c	A	G	2: 155,829,722	S598P	probably benign	Het
Gm38119	ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA	ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA	3: 92,737,890		probably benign	Het
Helb	A	G	10: 120,105,967	L272P	probably damaging	Het
Iars2	A	C	1: 185,295,586	V715G	probably benign	Het
Iqgap2	T	G	13: 95,660,248	N1133H	probably benign	Het
Kifc5b	T	A	17: 26,920,906	M43K	probably damaging	Het
Krtap7-1	T	A	16: 89,508,120	Y48F	possibly damaging	Het
Lag3	G	A	6: 124,908,445	T324I	probably damaging	Het
Mapkapk2	C	A	1: 131,058,711	A97S	possibly damaging	Het
Mettl4	A	G	17: 94,733,644	S361P	probably damaging	Het
Myh4	A	G	11: 67,252,332	T1029A	probably benign	Het
Nsl1	C	A	1: 191,063,223	A62D	probably benign	Het
Oas1e	T	A	5: 120,791,962	K164*	probably null	Het
Obsl1	A	G	1: 75,492,682	F1205S	probably benign	Het
Olfr113	G	T	17: 37,574,649	A258E	probably benign	Het
Olfr1537	T	A	9: 39,238,010	Y138F	probably benign	Het
Olfr22-ps1	G	A	11: 73,954,868	M59I	possibly damaging	Het
Olfr893	C	T	9: 38,209,770	A237V	possibly damaging	Het
Pald1	A	G	10: 61,347,453	F334S	probably benign	Het
Pikfyve	A	G	1: 65,215,996	E325G	possibly damaging	Het
Plekha8	A	G	6: 54,622,260	T215A	probably benign	Het
Ptprq	T	C	10: 107,576,058	R1816G	possibly damaging	Het
Ralgps1	G	A	2: 33,145,421	L472F	probably damaging	Het
Rasal1	A	T	5: 120,662,937	T221S	probably benign	Het
Rfx6	A	G	10: 51,725,405	T607A	probably damaging	Het
Rnf214	T	A	9: 45,867,450		probably benign	Het
Rtca	A	T	3: 116,497,654	Y226N	probably benign	Het
Sash1	T	A	10: 8,780,521	N236Y	possibly damaging	Het
Skint11	A	G	4: 114,194,754	I100V	probably benign	Het
Skint5	A	T	4: 113,626,590	S948R	unknown	Het
Slc25a13	A	T	6: 6,114,238	Y279N	probably benign	Het
Slc5a2	T	C	7: 128,265,794	L33P	probably damaging	Het
Slco1a5	A	T	6: 142,253,102	V279E	probably benign	Het
Ssh3	G	T	19: 4,263,805	H475Q	probably benign	Het
Tapt1	A	G	5: 44,194,401	S107P	probably benign	Het
Tjp2	T	C	19: 24,095,432	E1166G	probably damaging	Het
Tll1	A	G	8: 64,124,906	L89P	possibly damaging	Het
Tmc4	G	T	7: 3,675,464	T123N	probably benign	Het
Tmem139	A	G	6: 42,264,087	D202G	probably damaging	Het
Trim35	T	C	14: 66,307,918	S313P	probably damaging	Het
Ttc23l	A	G	15: 10,539,935	I154T	probably damaging	Het
Ttc9c	T	C	19: 8,818,496	T60A	probably benign	Het
Wdfy3	G	T	5: 101,882,483	N2386K	probably damaging	Het
Wdpcp	C	A	11: 21,660,924	Q49K	probably benign	Het
Xrn1	A	T	9: 96,002,232	Y867F		Het
Zfp423	C	T	8: 87,780,921	E932K	possibly damaging	Het
Zfp592	T	C	7: 81,023,573	F95S	probably damaging	Het
Zfp644	T	G	5: 106,635,131	N1095H	probably damaging	Het
Zfp983	A	T	17: 21,661,318	N54I	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
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
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'- CAGTATTCATCACACGTGTGC -3'
(R):5'- TGATGCTAGTCAACCGGAAATAG -3'

Sequencing Primer
(F):5'- ATCACACGTGTGCATATTTGTTCG -3'
(R):5'- CAGCCTACCTGTCTGTATAAAACAG -3'

Posted On

2021-04-30