Mutagenetix > Incidental Mutation

Incidental Mutation 'R1633:Edrf1'

172920

Institutional Source

Beutler Lab

Gene Symbol

Edrf1

Ensembl Gene

ENSMUSG00000039990

Gene Name

erythroid differentiation regulatory factor 1

Synonyms

2700050L05Rik

MMRRC Submission

039670-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.932) question?

Stock #

R1633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133637543-133672971 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133652140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 536 (S536P)

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 damaging
Transcript: ENSMUST00000051169
AA Change: S570P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: S570P

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: S536P

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

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: S536P

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

Meta Mutation Damage Score

0.2241

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 83.9%

Validation Efficiency

94% (68/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,753,855	A185V	probably benign	Het
Acsl6	T	C	11: 54,328,398		probably benign	Het
Arel1	A	G	12: 84,926,283	F580S	probably damaging	Het
Arhgef19	T	C	4: 141,238,560		probably benign	Het
Bpifb3	T	A	2: 153,922,584	L132Q	probably damaging	Het
Cacna2d1	T	A	5: 16,320,116	D516E	probably damaging	Het
Ccar1	T	C	10: 62,751,014	R882G	unknown	Het
Cep162	T	C	9: 87,203,683	E1196G	probably benign	Het
Cpt1b	T	C	15: 89,418,815	T649A	probably damaging	Het
Cttnbp2	A	T	6: 18,435,167	S231T	probably damaging	Het
Dgcr14	A	G	16: 17,909,967	V116A	probably benign	Het
Dock8	A	G	19: 25,051,563	T44A	probably benign	Het
Eif5	T	A	12: 111,540,287	N104K	probably damaging	Het
Enpp3	T	C	10: 24,795,782	Y438C	probably damaging	Het
Fam208b	A	T	13: 3,581,771	I910N	possibly damaging	Het
Galnt4	T	C	10: 99,109,952	V513A	possibly damaging	Het
Gdpd5	T	C	7: 99,448,513	I172T	probably benign	Het
Ggt7	C	T	2: 155,502,688	G245D	probably damaging	Het
Gm5884	A	T	6: 128,646,065		noncoding transcript	Het
Herc2	G	A	7: 56,229,369	G4669R	probably null	Het
Hydin	T	A	8: 110,506,982	D1817E	probably benign	Het
Igf2r	A	C	17: 12,726,309	N359K	probably benign	Het
Itgb4	T	C	11: 116,007,760	F1722L	probably damaging	Het
Itih3	T	A	14: 30,917,398	E406V	possibly damaging	Het
Lamc2	A	T	1: 153,141,698	C514*	probably null	Het
Mepe	G	T	5: 104,337,674	V227F	probably benign	Het
Nadk	C	T	4: 155,577,185	T56I	probably damaging	Het
Nedd4	G	A	9: 72,671,257	V84I	possibly damaging	Het
Nipal3	C	A	4: 135,447,348	R364L	probably benign	Het
Nkx2-9	T	C	12: 56,612,981	R27G	probably benign	Het
Noc2l	T	A	4: 156,245,293	S600T	probably benign	Het
Olfr15	A	C	16: 3,839,532	K186N	probably damaging	Het
Olfr364-ps1	T	A	2: 37,146,971	I253N	probably damaging	Het
Olfr98	T	A	17: 37,263,662	M1L	probably benign	Het
Pax6	A	T	2: 105,691,718	E240V	probably damaging	Het
Pdilt	T	G	7: 119,487,994	T478P	probably damaging	Het
Phldb1	T	A	9: 44,718,322	I25F	probably damaging	Het
Rad50	C	T	11: 53,692,859	R365Q	probably benign	Het
Rdh10	A	G	1: 16,128,196	E186G	possibly damaging	Het
Rdh12	A	T	12: 79,218,724	E224V	probably damaging	Het
Reck	T	C	4: 43,922,964	V413A	possibly damaging	Het
Scn8a	A	G	15: 101,029,815	I1392V	probably benign	Het
Simc1	G	A	13: 54,525,231	G464D	probably benign	Het
Srf	A	T	17: 46,551,608	V318E	probably damaging	Het
Stab1	T	C	14: 31,150,380		probably null	Het
Stk3	T	C	15: 34,959,060	D322G	probably damaging	Het
Stxbp4	A	G	11: 90,540,160		probably benign	Het
Sult2a1	A	G	7: 13,801,426	I234T	probably benign	Het
Syne1	A	G	10: 5,349,388	F956L	probably damaging	Het
Thsd7a	G	T	6: 12,471,104	S505*	probably null	Het
Tmem63a	T	A	1: 180,948,826	V67E	probably damaging	Het
Tram2	A	T	1: 21,003,922	V264E	probably damaging	Het
Trpv5	A	T	6: 41,675,920	C106*	probably null	Het
Tspyl5	T	A	15: 33,686,645	K385*	probably null	Het
Vezt	T	A	10: 93,984,276	Q409L	probably damaging	Het
Vmn2r79	T	C	7: 87,037,834	C808R	possibly damaging	Het
Wdfy3	A	C	5: 101,981,548	V4G	probably damaging	Het
Wdr95	A	T	5: 149,593,172	I493F	probably damaging	Het
Zfhx4	A	T	3: 5,400,413	N1877I	probably damaging	Het
Zfp180	A	G	7: 24,104,801	D215G	probably benign	Het
Zfp442	A	T	2: 150,408,340	Y490*	probably null	Het
Zfp804b	A	G	5: 7,179,513		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GTCTGGGTTTCAGAGCACACTGTC -3'
(R):5'- ACTTGCGGTTAGCACATTTGTTCAC -3'

Sequencing Primer
(F):5'- GCCAACTACATGCTTTCAGAG -3'
(R):5'- AATGTGAGTCAGTTACTCCAGG -3'

Posted On

2014-04-24