Mutagenetix > Incidental Mutation

Incidental Mutation 'R7716:Edrf1'

594922

Institutional Source

Beutler Lab

Gene Symbol

Edrf1

Ensembl Gene

ENSMUSG00000039990

Gene Name

erythroid differentiation regulatory factor 1

Synonyms

2700050L05Rik

MMRRC Submission

045774-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R7716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133637543-133672971 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 133643726 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 198 (E198K)

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: E198K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: E198K

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: E198K

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

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: E198K

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,869,829	C41Y	possibly damaging	Het
3110062M04Rik	T	C	6: 34,875,581	N60D	possibly damaging	Het
Abcg1	A	G	17: 31,109,519	I421V	probably benign	Het
Ank2	G	T	3: 126,943,166	T3023K	unknown	Het
Asb5	T	A	8: 54,584,986	H181Q	probably benign	Het
Asnsd1	C	T	1: 53,347,743	V242I	probably benign	Het
Atp2a1	C	A	7: 126,462,187	G46V	possibly damaging	Het
Birc6	A	G	17: 74,562,061	S335G	probably damaging	Het
Bmp1	A	T	14: 70,477,922	Y924*	probably null	Het
Ccdc3	T	A	2: 5,138,302	F123L	probably benign	Het
Col6a6	C	A	9: 105,783,903	V336L	possibly damaging	Het
Cpe	T	C	8: 64,611,397	Y256C	probably damaging	Het
Creb1	T	A	1: 64,566,261	D62E	possibly damaging	Het
Cyp4a32	T	A	4: 115,601,086	Y38N	probably damaging	Het
Dnajc1	A	G	2: 18,219,873	S390P	probably benign	Het
E430018J23Rik	T	A	7: 127,392,087	M243L	probably benign	Het
Ehmt1	A	G	2: 24,884,499	S98P	probably damaging	Het
Emsy	G	A	7: 98,599,766	A812V	unknown	Het
Eppk1	A	T	15: 76,107,503	L1726*	probably null	Het
Flnb	G	T	14: 7,917,274	K1584N	possibly damaging	Het
Gclc	C	T	9: 77,754,927	R40W	probably damaging	Het
Gm5065	T	C	7: 5,359,820	I150T	possibly damaging	Het
Gnpat	A	G	8: 124,876,934	R194G	probably benign	Het
Gpd1	G	A	15: 99,722,086	S255N	probably damaging	Het
Il17re	T	C	6: 113,462,969		probably null	Het
Inpp5d	G	A	1: 87,665,399	V74I	probably damaging	Het
Iqcb1	T	C	16: 36,867,607	S443P	probably benign	Het
Irak2	AC	ACC	6: 113,690,898		probably null	Het
Kansl1l	A	G	1: 66,801,133	V336A	probably damaging	Het
Klhdc4	T	A	8: 121,829,420	M21L	unknown	Het
Lrguk	C	T	6: 34,095,539	A588V	probably damaging	Het
March5	T	C	19: 37,220,423	Y164H	probably benign	Het
Mbip	T	A	12: 56,345,688	H38L	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,293,999		probably benign	Het
Myh8	A	T	11: 67,298,652	Q1218L	possibly damaging	Het
Ndc80	A	T	17: 71,523,594	I56K	probably benign	Het
Ndufs1	T	C	1: 63,152,857	D437G	possibly damaging	Het
Nlrc4	A	G	17: 74,446,656	L244P	probably damaging	Het
Olfr304	A	T	7: 86,386,054	M202K	probably benign	Het
Olfr745	A	G	14: 50,642,358	T20A	probably benign	Het
Pdc	A	C	1: 150,330,783	D40A	probably benign	Het
Pdzd2	T	C	15: 12,373,374	Y2225C	possibly damaging	Het
Plce1	G	T	19: 38,716,851	G900V	probably benign	Het
Plpp1	A	T	13: 112,856,789	H86L	probably benign	Het
Plpp1	T	G	13: 112,859,652	F168C	probably damaging	Het
Pms1	G	A	1: 53,207,608	P312S	probably damaging	Het
Prf1	G	A	10: 61,300,155	R70H	possibly damaging	Het
Pygo1	A	G	9: 72,942,926	D19G	probably damaging	Het
Sdr42e1	T	A	8: 117,673,647		probably benign	Het
Serpinb8	C	T	1: 107,604,708	R177*	probably null	Het
Serpini1	A	C	3: 75,616,714	S210R	probably damaging	Het
Slc29a4	C	T	5: 142,718,506	P305L	probably benign	Het
Smco3	T	A	6: 136,831,249	Y209F	probably damaging	Het
Smtn	C	G	11: 3,524,708	S216T	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Sri	T	A	5: 8,056,641		probably null	Het
Strn	G	A	17: 78,655,775	P716L	probably damaging	Het
Tmem167b	T	C	3: 108,558,897	Y69C	probably damaging	Het
Trpc7	A	T	13: 56,789,760	F628I	probably damaging	Het
Trrap	T	A	5: 144,777,146	I65N	possibly damaging	Het
Tspan14	C	A	14: 40,911,133	G201C	probably damaging	Het
Tti1	T	A	2: 158,000,698	I804F	probably benign	Het
Unc5b	C	T	10: 60,777,438	G340R	probably damaging	Het
Usp13	C	A	3: 32,837,856	Y61*	probably null	Het
Vmn1r230	T	C	17: 20,846,882	M111T	possibly damaging	Het
Vmn2r26	T	A	6: 124,061,745	Y760N	probably damaging	Het
Vmn2r87	A	G	10: 130,472,149	V740A	probably benign	Het
Zbtb14	A	G	17: 69,387,420	I38V	probably benign	Het
Zfp623	T	C	15: 75,948,422	I409T	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
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'- AACTCCTTAGAGCCAGGGTG -3'
(R):5'- CAGCCTACCTGTCTGTATAAAACAG -3'

Sequencing Primer
(F):5'- AGTGCAGGATCCTTTCAAGGC -3'
(R):5'- GACTCTATAATCAAGCATGCATCTTG -3'

Posted On

2019-11-12