Mutagenetix > Incidental Mutation

Incidental Mutation 'R9552:Edrf1'

720552

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 #

R9552 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133637543-133672971 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133639013 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 73 (D73G)

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: D73G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: D73G

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: D73G

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

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: D73G

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: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 29,247,623		probably benign	Het
Abhd6	T	C	14: 8,028,329	I20T	possibly damaging	Het
Adamts1	A	G	16: 85,802,617	S32P	probably benign	Het
Ak7	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	12: 105,710,189		probably benign	Het
Arhgap21	A	T	2: 20,881,586	V270E	probably damaging	Het
Birc6	T	A	17: 74,609,069	L1660Q	probably benign	Het
Blvrb	A	G	7: 27,459,361	D62G	probably benign	Het
Ccdc68	T	A	18: 69,956,042	S219T	probably damaging	Het
Cnbp	A	G	6: 87,845,126	Y139H	probably damaging	Het
Csmd3	T	A	15: 48,791,960		probably benign	Het
Cyp2c66	T	C	19: 39,183,802	V387A	probably damaging	Het
Cyp2j7	C	T	4: 96,227,603	R202H	probably damaging	Het
Ercc6	C	T	14: 32,562,568	R763C	probably damaging	Het
Gm7534	G	A	4: 134,202,001	P331L	probably benign	Het
Gm8159	T	A	14: 4,635,265	I161K	probably damaging	Het
Gramd1c	A	T	16: 43,986,931	M356K	probably damaging	Het
Has2	T	C	15: 56,667,694	K542E	probably benign	Het
Hipk3	T	C	2: 104,471,505	N114S	probably benign	Het
Hs3st6	T	C	17: 24,758,254	L236P	probably damaging	Het
Il15	T	A	8: 82,334,548	H100L	probably benign	Het
Kcnh5	T	C	12: 74,976,560	Y578C	probably benign	Het
Lctl	A	G	9: 64,117,767	I12V	probably benign	Het
Mark2	G	T	19: 7,285,898	T201N	possibly damaging	Het
Mef2c	A	G	13: 83,662,342	N371S	probably benign	Het
Mgst3	T	C	1: 167,378,302	Y36C	probably damaging	Het
Ndst1	G	T	18: 60,712,859	T126K	probably damaging	Het
Nid1	T	A	13: 13,502,460	I995N	probably damaging	Het
Nr2e1	A	T	10: 42,571,491	M175K	probably benign	Het
Nrxn1	T	C	17: 90,630,022	K669R	probably damaging	Het
Olfr1162	C	T	2: 88,050,165	W153*	probably null	Het
Olfr424	A	T	1: 174,137,319	T192S	probably benign	Het
Pbx1	T	C	1: 168,431,341	D55G	possibly damaging	Het
Pck2	T	A	14: 55,542,624	I110N	probably damaging	Het
Pkn2	T	C	3: 142,793,833	D977G	probably damaging	Het
Pyroxd2	A	G	19: 42,731,317		probably null	Het
Rapgef4	A	G	2: 72,178,217	I246M	probably benign	Het
Rnasel	T	A	1: 153,754,927	N396K	possibly damaging	Het
Scaf1	A	G	7: 45,008,927	L176P	probably damaging	Het
Scgb1b12	C	A	7: 32,334,549	A78E	probably benign	Het
Scgb2b19	A	G	7: 33,279,773	F28S	probably damaging	Het
Skint5	C	T	4: 113,940,855	C177Y	possibly damaging	Het
Slitrk5	C	T	14: 111,679,064	T40I	probably benign	Het
Slu7	G	A	11: 43,438,268	V106I	probably benign	Het
Sorbs1	G	A	19: 40,373,479	R154*	probably null	Het
Stc2	A	G	11: 31,360,332	S235P	probably benign	Het
Stt3a	T	C	9: 36,734,379	D672G	probably benign	Het
Tcerg1l	T	C	7: 138,394,269	D170G	possibly damaging	Het
Tcf15	T	C	2: 152,144,119	L165P	probably damaging	Het
Tgm1	T	C	14: 55,713,476		probably benign	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmco4	G	A	4: 139,052,584	V447M	probably damaging	Het
Trf	C	T	9: 103,222,084	V339I	probably benign	Het
Ucp1	T	C	8: 83,297,880	L278P	probably damaging	Het
Unc80	A	G	1: 66,678,123	D2946G	possibly damaging	Het
Vmn1r82	A	G	7: 12,305,673	N291S	possibly damaging	Het
Vmn1r86	A	T	7: 13,102,854	Y32N	possibly damaging	Het
Wdr49	T	C	3: 75,323,624	D577G	probably benign	Het
Wnt10b	C	A	15: 98,772,832	G272W	probably damaging	Het
Yipf4	T	C	17: 74,499,029	F221S	probably damaging	Het
Zfp512	G	A	5: 31,466,332	C14Y	probably benign	Het
Zfp658	G	T	7: 43,573,143	V281F	probably benign	Het
Zfp827	T	G	8: 79,060,774	W190G	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
R9396:Edrf1	UTSW	7	133660109	missense	possibly damaging	0.79
R9551:Edrf1	UTSW	7	133639013	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTCCTTGTGAATCCTGATTTG -3'
(R):5'- GCATCTCCAATTGAACTGCG -3'

Sequencing Primer
(F):5'- ATCCTGATTTGGTGGGTTCTTAATTC -3'
(R):5'- AGCAGCTTTCAGAGCTTC -3'

Posted On

2022-08-09