Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01697:Edrf1'

104303

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Edrf1

Ensembl Gene

ENSMUSG00000039990

Gene Name

erythroid differentiation regulatory factor 1

Synonyms

2700050L05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

IGL01697

Quality Score

Status

Chromosome

Chromosomal Location

133637543-133672971 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133643730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 199 (H199R)

Ref Sequence

ENSEMBL: ENSMUSP00000115641 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051169
AA Change: H199R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: H199R

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 benign
Transcript: ENSMUST00000128901
AA Change: H199R

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: H199R

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: ENSMUST00000154795

Coding Region Coverage

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,119,156		probably benign	Het
Arid2	A	C	15: 96,361,572		probably null	Het
Cadm1	C	A	9: 47,850,324	D435E	probably damaging	Het
Dagla	A	G	19: 10,271,198	F33L	probably benign	Het
F5	T	A	1: 164,194,052	N1365K	probably benign	Het
Fam205c	T	A	4: 42,874,163	M2L	probably benign	Het
Gipc2	T	G	3: 152,137,608	I131L	probably benign	Het
Gpc1	C	T	1: 92,858,410	S507F	possibly damaging	Het
Grid1	A	G	14: 35,309,257	D269G	probably benign	Het
Ighv12-3	A	T	12: 114,366,953	M1K	probably null	Het
Kif5b	T	C	18: 6,226,871	H129R	possibly damaging	Het
Lipo3	A	T	19: 33,559,565	C252S	probably damaging	Het
Mast4	A	C	13: 102,767,893	N645K	probably damaging	Het
Megf9	T	A	4: 70,433,472	T471S	possibly damaging	Het
Mmrn1	A	G	6: 60,976,493	D586G	possibly damaging	Het
Ninl	A	T	2: 150,939,947	L1206Q	probably damaging	Het
Olfr1446	T	A	19: 12,890,467	T37S	probably benign	Het
Olfr45	T	C	7: 140,691,652	V249A	possibly damaging	Het
Olfr765	C	A	10: 129,046,502	C187F	probably damaging	Het
Oog2	T	A	4: 144,195,184	N221K	possibly damaging	Het
Pik3ap1	G	A	19: 41,324,579	A365V	probably damaging	Het
Ppwd1	T	C	13: 104,220,464	E181G	probably benign	Het
Scaf11	A	C	15: 96,423,623		probably benign	Het
Skint7	T	A	4: 111,980,457		probably benign	Het
Sox14	T	C	9: 99,875,663	I8V	probably benign	Het
Stim1	A	T	7: 102,425,969		probably benign	Het
Ttc37	C	T	13: 76,128,733	L479F	probably benign	Het
Ttll3	T	C	6: 113,399,729	S357P	probably benign	Het
Vmn1r178	T	A	7: 23,893,689	I54N	probably damaging	Het
Zdhhc2	T	C	8: 40,467,419		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
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
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

Posted On

2014-01-21