Mutagenetix > Incidental Mutation

Incidental Mutation 'R6275:Edrf1'

507580

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 #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133637543-133672971 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133667582 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 1147 (N1147Y)

Ref Sequence

ENSEMBL: ENSMUSP00000059166 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051169
AA Change: N1147Y

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: N1147Y

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

possibly damaging
Transcript: ENSMUST00000128901
AA Change: N1113Y

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: N1113Y

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

noncoding transcript
Transcript: ENSMUST00000137338

Predicted Effect

unknown
Transcript: ENSMUST00000176661
AA Change: N34Y

SMART Domains

Protein: ENSMUSP00000134967
Gene: ENSMUSG00000039990
AA Change: N34Y

Domain	Start	End	E-Value	Type
low complexity region	116	124	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211072

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,285,368	D3936G	probably damaging	Het
Abca7	T	A	10: 79,997,791	L30H	probably damaging	Het
Abcb6	T	C	1: 75,172,551		probably null	Het
Acsbg1	T	A	9: 54,609,772	M586L	probably benign	Het
Ano6	A	T	15: 95,913,433	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,939,749	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,882,311	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,145,663	M144I	probably damaging	Het
Cdca3	C	T	6: 124,832,664		probably null	Het
Ces1h	A	T	8: 93,372,646	L93I	probably benign	Het
Cntfr	T	C	4: 41,663,216	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,556,658	P126T	probably benign	Het
Dnah10	A	G	5: 124,785,184	T2225A	probably damaging	Het
Ermap	C	T	4: 119,178,550	V414M	probably damaging	Het
Fam13a	A	G	6: 58,954,257	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,918,753	H155R	possibly damaging	Het
Folr1	T	A	7: 101,859,535	N61I	probably damaging	Het
Fsip1	T	C	2: 118,205,102	I431V	probably benign	Het
Gm5039	T	C	12: 88,321,225	D86G	possibly damaging	Het
Gm5493	A	T	17: 22,750,070	E74D	probably benign	Het
Gm6803	T	C	12: 88,018,485	N96S	probably benign	Het
H2-Oa	A	G	17: 34,094,566	D197G	probably benign	Het
Hps1	T	C	19: 42,769,607	E169G	probably null	Het
Il17rc	A	T	6: 113,480,347	M372L	probably benign	Het
Itga10	A	G	3: 96,658,185	S1042G	probably benign	Het
Jchain	A	T	5: 88,521,353	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,327	T211A	probably benign	Het
Mal2	T	C	15: 54,571,639		probably null	Het
Mov10l1	T	A	15: 89,026,620	I1071N	probably damaging	Het
Mpp2	T	A	11: 102,060,969	Y401F	probably damaging	Het
Myh15	A	G	16: 49,145,247	T1172A	probably benign	Het
Olfr635	T	A	7: 103,979,974	S261T	probably damaging	Het
Pcnx	G	T	12: 81,918,607	S516I	probably benign	Het
Pidd1	C	T	7: 141,439,795	A685T	probably damaging	Het
Psg28	A	C	7: 18,430,440	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,438,632		probably benign	Het
Rapgefl1	T	A	11: 98,851,120	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,644,432	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,579,923		probably benign	Het
Sec62	A	G	3: 30,809,836	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,648,720	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,283,650	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480		probably benign	Het
Slc26a11	T	C	11: 119,359,299	F127L	probably benign	Het
Stac3	T	A	10: 127,507,746	Y252*	probably null	Het
Stoml3	G	A	3: 53,507,506	A240T	probably damaging	Het
Tanc1	A	T	2: 59,843,510	H1653L	probably benign	Het
Tll1	A	T	8: 64,051,367	L665*	probably null	Het
Tnr	A	C	1: 159,861,270	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,675,520	D165E	probably benign	Het
Tsc2	A	G	17: 24,600,420	V1185A	probably benign	Het
Tulp4	A	G	17: 6,198,736	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,218,765	M72K	possibly damaging	Het
Usp42	G	A	5: 143,714,972	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,199,991	L659*	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
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'- GGGCCTTACTGTATCTTTATCAGG -3'
(R):5'- GCAGTAGGCACATGGTCATG -3'

Sequencing Primer
(F):5'- ACTGTATCTTTATCAGGGAGCTTTTG -3'
(R):5'- GGATTGGAACTCAGGACCTTC -3'

Posted On

2018-03-15