Mutagenetix > Incidental Mutation

Incidental Mutation 'R4770:Edrf1'

367412

Institutional Source

Beutler Lab

Gene Symbol

Edrf1

Ensembl Gene

ENSMUSG00000039990

Gene Name

erythroid differentiation regulatory factor 1

Synonyms

2700050L05Rik

MMRRC Submission

042410-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R4770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133239422-133274710 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 133260339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 83 (M83I)

Ref Sequence

ENSEMBL: ENSMUSP00000134801 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051169
AA Change: M853I

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: M853I

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: M819I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: M819I

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 damaging
Transcript: ENSMUST00000138370
AA Change: M83I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211072

Meta Mutation Damage Score

0.2596

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

93% (89/96)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,962,341 (GRCm39)	V503A	possibly damaging	Het
Agps	T	A	2: 75,722,199 (GRCm39)	F463Y	possibly damaging	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Amigo3	A	T	9: 107,930,734 (GRCm39)	L52F	probably damaging	Het
Anapc1	T	C	2: 128,527,980 (GRCm39)		probably benign	Het
Ankrd36	G	T	11: 5,540,870 (GRCm39)	C312F	possibly damaging	Het
Asic2	A	C	11: 80,862,318 (GRCm39)	D226E	probably benign	Het
Atp8b2	T	A	3: 89,864,374 (GRCm39)	Q197L	probably damaging	Het
C2cd3	A	G	7: 100,092,642 (GRCm39)	Y495C	probably damaging	Het
Ccdc51	A	G	9: 108,919,978 (GRCm39)	T125A	probably benign	Het
Ccser1	A	G	6: 61,288,485 (GRCm39)	Y216C	possibly damaging	Het
Cimap1b	A	G	15: 89,263,326 (GRCm39)	I19T	probably damaging	Het
Cntfr	A	T	4: 41,663,282 (GRCm39)	I175N	possibly damaging	Het
Cox10	G	A	11: 63,854,989 (GRCm39)	R431W	probably benign	Het
Cubn	T	C	2: 13,319,578 (GRCm39)	T2881A	possibly damaging	Het
Cyp2d9	T	A	15: 82,336,774 (GRCm39)	V41E	probably damaging	Het
Dmrtb1	C	T	4: 107,540,986 (GRCm39)	G125D	probably benign	Het
Dscaml1	C	T	9: 45,581,404 (GRCm39)	R408C	probably damaging	Het
Duox2	A	T	2: 122,115,397 (GRCm39)	S1052T	probably benign	Het
Ecm1	A	G	3: 95,645,273 (GRCm39)		probably benign	Het
Epb41l1	T	A	2: 156,371,344 (GRCm39)	M727K	probably benign	Het
Exosc9	T	C	3: 36,607,984 (GRCm39)	V64A	probably damaging	Het
Ezh2	A	T	6: 47,517,630 (GRCm39)	I564N	probably damaging	Het
Fam89b	C	A	19: 5,779,482 (GRCm39)	R25L	probably damaging	Het
Fgr	C	T	4: 132,714,602 (GRCm39)	T98M	probably damaging	Het
Fhip2b	T	A	14: 70,825,727 (GRCm39)	D351V	probably damaging	Het
Gapvd1	A	G	2: 34,581,193 (GRCm39)	S1089P	probably damaging	Het
Gbp5	A	T	3: 142,213,837 (GRCm39)	I544F	possibly damaging	Het
Gli2	C	A	1: 118,910,318 (GRCm39)		probably benign	Het
Gm9934	A	G	7: 92,702,192 (GRCm39)		noncoding transcript	Het
Greb1	A	T	12: 16,731,357 (GRCm39)	D1660E	probably benign	Het
Gtf2i	T	A	5: 134,272,414 (GRCm39)	N750I	possibly damaging	Het
H2-DMb2	G	C	17: 34,367,698 (GRCm39)	D171H	probably damaging	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Itga2b	A	G	11: 102,351,582 (GRCm39)	F581S	probably damaging	Het
Itsn2	T	A	12: 4,677,892 (GRCm39)	M83K	probably damaging	Het
Kif27	G	A	13: 58,492,191 (GRCm39)	T316M	probably damaging	Het
Lad1	A	T	1: 135,753,531 (GRCm39)	Q26L	probably damaging	Het
Lrrn3	T	A	12: 41,502,442 (GRCm39)	H625L	probably benign	Het
Mast1	A	G	8: 85,655,875 (GRCm39)	V155A	probably benign	Het
Mast3	G	A	8: 71,238,864 (GRCm39)	T480M	probably damaging	Het
Mpc1	C	T	17: 8,512,377 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,457,380 (GRCm39)	M1606L	probably benign	Het
Myo1c	T	A	11: 75,551,139 (GRCm39)	L238*	probably null	Het
Nanog	T	G	6: 122,688,550 (GRCm39)	S44A	possibly damaging	Het
Neb	T	C	2: 52,039,165 (GRCm39)	Q6958R	probably benign	Het
Ngef	C	T	1: 87,405,283 (GRCm39)	R709H	probably damaging	Het
Nr1d1	A	G	11: 98,661,471 (GRCm39)	V265A	probably benign	Het
Nr3c2	A	G	8: 77,634,872 (GRCm39)		probably null	Het
Olfm5	A	G	7: 103,809,685 (GRCm39)	S164P	probably benign	Het
Parvb	T	C	15: 84,188,106 (GRCm39)		probably null	Het
Pde4dip	G	T	3: 97,674,400 (GRCm39)	A172D	probably damaging	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pik3r6	T	A	11: 68,420,720 (GRCm39)	V155E	probably damaging	Het
Pinx1	T	G	14: 64,109,820 (GRCm39)	V124G	probably damaging	Het
Poglut1	A	G	16: 38,355,119 (GRCm39)	Y236H	probably damaging	Het
Pou4f2	T	A	8: 79,163,030 (GRCm39)	M2L	unknown	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Pramel26	C	T	4: 143,538,519 (GRCm39)	E151K	probably damaging	Het
Prkaca	A	G	8: 84,717,499 (GRCm39)	N209S	probably benign	Het
Ring1	G	A	17: 34,242,361 (GRCm39)	P49S	probably damaging	Het
Rnf20	T	A	4: 49,633,412 (GRCm39)		probably null	Het
Rnf25	G	A	1: 74,633,099 (GRCm39)	R418C	probably damaging	Het
Ryr1	G	T	7: 28,808,707 (GRCm39)	P462Q	probably damaging	Het
Serpinb3d	A	G	1: 107,006,008 (GRCm39)	F360S	probably damaging	Het
Setd7	T	C	3: 51,428,843 (GRCm39)	E329G	probably damaging	Het
Slco2b1	C	T	7: 99,320,156 (GRCm39)		probably null	Het
Snap91	G	A	9: 86,655,654 (GRCm39)	T844I	possibly damaging	Het
Snhg5	C	T	9: 88,404,424 (GRCm39)		noncoding transcript	Het
Son	T	A	16: 91,455,756 (GRCm39)	V1501E	probably damaging	Het
Syncrip	T	A	9: 88,361,905 (GRCm39)	E70V	probably damaging	Het
Tas2r125	A	G	6: 132,886,750 (GRCm39)	D46G	probably damaging	Het
Tmem115	G	A	9: 107,412,156 (GRCm39)	R160Q	probably benign	Het
Trerf1	G	A	17: 47,630,581 (GRCm39)		noncoding transcript	Het
Tut7	A	G	13: 59,920,698 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,266,466 (GRCm39)		probably null	Het
Ush2a	G	T	1: 188,282,076 (GRCm39)	V1864F	probably benign	Het
Xkr4	A	T	1: 3,286,714 (GRCm39)	V492D	probably damaging	Het
Zfp646	T	A	7: 127,482,649 (GRCm39)	S1609T	possibly damaging	Het
Zfp65	A	T	13: 67,856,477 (GRCm39)	H277Q	probably damaging	Het
Zfp69	A	G	4: 120,791,614 (GRCm39)	S176P	probably damaging	Het
Zfp747	C	T	7: 126,974,971 (GRCm39)	A10T	probably damaging	Het
Zfp850	T	C	7: 27,684,411 (GRCm39)		probably null	Het

Other mutations in Edrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Edrf1	APN	7	133,260,282 (GRCm39)	nonsense	probably null
IGL01637:Edrf1	APN	7	133,252,254 (GRCm39)	missense	probably damaging	1.00
IGL01697:Edrf1	APN	7	133,245,459 (GRCm39)	missense	probably benign	0.02
IGL01893:Edrf1	APN	7	133,258,831 (GRCm39)	missense	probably benign	0.09
IGL02202:Edrf1	APN	7	133,258,699 (GRCm39)	missense	probably benign	0.00
IGL02278:Edrf1	APN	7	133,258,729 (GRCm39)	missense	probably benign	0.00
IGL02382:Edrf1	APN	7	133,252,344 (GRCm39)	splice site	probably benign
IGL02743:Edrf1	APN	7	133,258,220 (GRCm39)	unclassified	probably benign
R0265:Edrf1	UTSW	7	133,258,774 (GRCm39)	missense	probably damaging	1.00
R0282:Edrf1	UTSW	7	133,245,751 (GRCm39)	missense	probably benign	0.21
R1167:Edrf1	UTSW	7	133,245,795 (GRCm39)	missense	probably benign	0.08
R1633:Edrf1	UTSW	7	133,253,869 (GRCm39)	missense	probably damaging	1.00
R2039:Edrf1	UTSW	7	133,255,678 (GRCm39)	nonsense	probably null
R2060:Edrf1	UTSW	7	133,258,858 (GRCm39)	nonsense	probably null
R2920:Edrf1	UTSW	7	133,269,301 (GRCm39)	missense	probably benign	0.00
R4887:Edrf1	UTSW	7	133,260,339 (GRCm39)	missense	probably damaging	0.99
R4888:Edrf1	UTSW	7	133,260,339 (GRCm39)	missense	probably damaging	0.99
R5135:Edrf1	UTSW	7	133,252,773 (GRCm39)	missense	probably benign	0.03
R5156:Edrf1	UTSW	7	133,261,908 (GRCm39)	missense	probably damaging	1.00
R5290:Edrf1	UTSW	7	133,252,295 (GRCm39)	missense	probably damaging	0.98
R5342:Edrf1	UTSW	7	133,253,639 (GRCm39)	splice site	probably null
R5416:Edrf1	UTSW	7	133,243,131 (GRCm39)	missense	possibly damaging	0.52
R5450:Edrf1	UTSW	7	133,260,339 (GRCm39)	missense	probably damaging	0.99
R5906:Edrf1	UTSW	7	133,265,144 (GRCm39)	missense	probably benign
R6272:Edrf1	UTSW	7	133,239,537 (GRCm39)	start gained	probably benign
R6275:Edrf1	UTSW	7	133,269,311 (GRCm39)	missense	possibly damaging	0.60
R7144:Edrf1	UTSW	7	133,239,578 (GRCm39)	missense	probably benign
R7244:Edrf1	UTSW	7	133,256,079 (GRCm39)	missense	probably benign	0.01
R7716:Edrf1	UTSW	7	133,245,455 (GRCm39)	missense	probably damaging	0.99
R8193:Edrf1	UTSW	7	133,263,606 (GRCm39)	missense	possibly damaging	0.95
R8197:Edrf1	UTSW	7	133,249,088 (GRCm39)	missense	probably benign	0.41
R8553:Edrf1	UTSW	7	133,252,047 (GRCm39)	missense	possibly damaging	0.88
R8710:Edrf1	UTSW	7	133,245,495 (GRCm39)	missense	probably damaging	1.00
R8839:Edrf1	UTSW	7	133,255,644 (GRCm39)	missense	probably benign	0.00
R9035:Edrf1	UTSW	7	133,245,431 (GRCm39)	missense	probably damaging	0.97
R9051:Edrf1	UTSW	7	133,273,207 (GRCm39)	missense	probably benign	0.00
R9121:Edrf1	UTSW	7	133,258,770 (GRCm39)	frame shift	probably null
R9396:Edrf1	UTSW	7	133,261,838 (GRCm39)	missense	possibly damaging	0.79
R9551:Edrf1	UTSW	7	133,240,742 (GRCm39)	missense	probably damaging	1.00
R9552:Edrf1	UTSW	7	133,240,742 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGCAACAGATCTATCTACAG -3'
(R):5'- AGCTACTTCTGAACTTAGCAGTC -3'

Sequencing Primer
(F):5'- GGCAACAGATCTATCTACAGACTTAG -3'
(R):5'- CTGAACTTAGCAGTCTAAAGCATGG -3'

Posted On

2015-12-29