Mutagenetix > Incidental Mutation

Incidental Mutation 'R9396:Edrf1'

710831

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: 0.925) question?

Stock #

R9396 (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 133660109 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 878 (K878E)

Ref Sequence

ENSEMBL: ENSMUSP00000059166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051169] [ENSMUST00000128901] [ENSMUST00000138370]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051169
AA Change: K878E

PolyPhen 2 Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: K878E

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: K844E

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: K844E

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

Meta Mutation Damage Score

0.0955

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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
Abcg8	T	A	17: 84,692,854	F281I	probably damaging	Het
Acad8	A	G	9: 26,975,745	M402T	probably damaging	Het
Apcdd1	C	T	18: 62,922,660		probably benign	Het
Apol7a	T	C	15: 77,389,725	E179G	possibly damaging	Het
Asmt	A	G	X: 170,676,406	T217A	probably benign	Het
Cadm2	T	C	16: 66,747,216	Y318C	probably damaging	Het
Cckar	G	A	5: 53,707,281	T26M	probably damaging	Het
Cd300ld	G	A	11: 114,987,404	T94I	probably damaging	Het
Cdk5rap2	A	G	4: 70,254,666	Y1390H	possibly damaging	Het
Cdk5rap2	C	T	4: 70,264,658	S1268N	probably damaging	Het
Csrnp3	C	T	2: 66,002,497	R127C	probably damaging	Het
Dsc2	T	A	18: 20,041,716	R501*	probably null	Het
Dusp2	C	T	2: 127,337,718	R294C	probably damaging	Het
Evc	T	C	5: 37,319,090	T372A	possibly damaging	Het
Fcgr1	T	A	3: 96,287,074	K166*	probably null	Het
Fstl4	C	A	11: 52,773,951	P36Q	probably benign	Het
Gas2l2	A	T	11: 83,422,833	I551N	probably benign	Het
Hc	G	T	2: 35,037,603	S333*	probably null	Het
Ibsp	A	G	5: 104,310,431	Y278C	probably damaging	Het
Ifitm10	A	T	7: 142,370,967	V45D	probably damaging	Het
Kcnc3	T	C	7: 44,591,513	S210P	possibly damaging	Het
Klhl3	T	G	13: 58,013,848	T531P	probably damaging	Het
Mapt	C	A	11: 104,298,729	P191Q	possibly damaging	Het
Mpp5	G	T	12: 78,824,747	R367L	possibly damaging	Het
Myh9	T	C	15: 77,763,296	T1840A	probably benign	Het
Myof	A	T	19: 37,934,846	C1320S	probably damaging	Het
Myom3	G	T	4: 135,785,888	V626L	probably benign	Het
Ndor1	A	G	2: 25,248,909	L321P	probably benign	Het
Nhsl1	T	A	10: 18,524,001	M291K	probably damaging	Het
Nubp2	C	T	17: 24,884,502	V134I	probably benign	Het
Nuf2	T	C	1: 169,510,348	I287V	probably benign	Het
Olfr1066	A	T	2: 86,455,501	C257S	probably benign	Het
Olfr1290	A	G	2: 111,489,519	L213P	probably benign	Het
Olfr134	T	A	17: 38,175,530	W149R	probably damaging	Het
Olfr195	G	A	16: 59,148,939	V30M	probably damaging	Het
Olfr412	T	A	11: 74,365,263	M198K	probably benign	Het
Olfr544	A	C	7: 102,484,973	V49G	possibly damaging	Het
Olfr641	A	G	7: 104,040,513	N239S	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Ppp1r12a	A	G	10: 108,264,710	E863G	probably damaging	Het
Pskh1	C	T	8: 105,913,459	T257M	possibly damaging	Het
Rasgef1b	T	C	5: 99,229,329	I334V	probably benign	Het
Rnf180	T	A	13: 105,181,519	K462*	probably null	Het
Sin3a	A	G	9: 57,101,161	D455G	probably benign	Het
Slc15a4	A	G	5: 127,617,399		probably benign	Het
Slc2a13	T	C	15: 91,343,712	T426A	probably benign	Het
Smarca5	T	C	8: 80,736,729	K70R	probably benign	Het
Smg1	A	G	7: 118,208,080	V182A	unknown	Het
Stim1	G	A	7: 102,415,385	V221I	possibly damaging	Het
Tbx18	T	C	9: 87,727,379	D201G	probably damaging	Het
Tcf25	A	G	8: 123,401,092	E630G	probably benign	Het
Tm7sf3	T	C	6: 146,621,974	N135S	possibly damaging	Het
Tmem28	C	T	X: 99,845,491	R321W	probably damaging	Het
Togaram1	A	G	12: 64,967,655	N560S	probably damaging	Het
Unc13d	A	G	11: 116,075,703		probably null	Het
Zfp445	A	C	9: 122,852,516	S787A	probably benign	Het
Zfp949	T	C	9: 88,567,207	W22R	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
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
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'- TGCCCAGGTGTCTTTACTTG -3'
(R):5'- CTGTAATACAAGCCCTCCTCTG -3'

Sequencing Primer
(F):5'- CCCAGTTATGAGTACTGGAAGTCC -3'
(R):5'- GAGAGAACTCCCGTTTGAA -3'

Posted On

2022-04-18