Mutagenetix > Incidental Mutation

Incidental Mutation 'R8193:Edrf1'

635292

Institutional Source

Beutler Lab

Gene Symbol

Edrf1

Ensembl Gene

ENSMUSG00000039990

Gene Name

erythroid differentiation regulatory factor 1

Synonyms

2700050L05Rik

MMRRC Submission

067616-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R8193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133637543-133672971 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 133661877 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 971 (T971I)

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: T971I

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: T971I

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: T937I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: T937I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176661

SMART Domains

Protein: ENSMUSP00000134967
Gene: ENSMUSG00000039990

Domain	Start	End	E-Value	Type
low complexity region	116	124	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,419,868	V48E	possibly damaging	Het
4930522H14Rik	A	G	4: 109,524,332	L83S	probably benign	Het
Abhd18	C	A	3: 40,930,225	T233K	probably benign	Het
Adam26a	A	T	8: 43,569,236	C406S	probably damaging	Het
Anp32e	G	A	3: 95,929,398		probably benign	Het
Cd33	C	T	7: 43,532,272	A155T	possibly damaging	Het
Cdc25c	A	T	18: 34,749,622		probably null	Het
Cep350	A	G	1: 155,862,079	S2673P	probably benign	Het
Chodl	T	C	16: 78,941,524	S127P	probably damaging	Het
Clstn2	A	G	9: 97,583,630	S103P	probably damaging	Het
Crocc2	T	A	1: 93,190,166		probably null	Het
Cyp24a1	A	G	2: 170,485,702	L507P	probably damaging	Het
Dcbld2	T	A	16: 58,464,010		probably null	Het
Dnah14	T	C	1: 181,688,205	Y1991H	probably damaging	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
Ermap	A	G	4: 119,183,943	I290T	possibly damaging	Het
Eva1a	A	T	6: 82,091,940	S83C	probably benign	Het
Fcgbp	A	T	7: 28,104,851	N1795Y	probably damaging	Het
Foxg1	A	G	12: 49,385,594	H370R	possibly damaging	Het
Gabra1	A	G	11: 42,147,141	Y217H	probably damaging	Het
Gm3086	A	G	12: 69,969,490	N62S	noncoding transcript	Het
Hmcn1	A	T	1: 150,577,477	Y5362*	probably null	Het
Igkv5-37	C	A	6: 69,963,812		probably benign	Het
Ints3	A	G	3: 90,400,622	V647A	possibly damaging	Het
Itga1	A	G	13: 114,968,455		probably null	Het
Limk2	T	C	11: 3,347,691	K481E	possibly damaging	Het
Lonp2	G	T	8: 86,631,463	G104V	probably damaging	Het
Lpar5	T	C	6: 125,081,339	S8P	probably benign	Het
Map2k7	T	C	8: 4,244,059	F202L	probably benign	Het
Mark1	T	G	1: 184,928,052	M136L	probably damaging	Het
Myo15b	T	C	11: 115,885,147	S590P	probably damaging	Het
Nbas	T	C	12: 13,433,009	V1429A	probably damaging	Het
Nbeal1	T	A	1: 60,253,481	Y1097*	probably null	Het
Ncf4	T	C	15: 78,262,266	S299P	probably damaging	Het
Nfkbiz	T	C	16: 55,821,851	D68G	probably damaging	Het
Nomo1	T	C	7: 46,042,613	S154P	possibly damaging	Het
Nrp1	G	T	8: 128,460,706	W411L	probably damaging	Het
Olfr1015	T	C	2: 85,785,961	V150A	probably benign	Het
Olfr1202	T	A	2: 88,817,459	M96K	probably damaging	Het
Olfr141	T	G	2: 86,806,865	I45L	noncoding transcript	Het
Olfr149	T	C	9: 39,702,202	D189G	possibly damaging	Het
Olfr971	T	C	9: 39,839,461	I9T	probably benign	Het
Pcsk5	A	G	19: 17,586,051	V574A	possibly damaging	Het
Prex1	C	A	2: 166,593,860	R589L	possibly damaging	Het
Prl7d1	A	G	13: 27,709,247	V227A		Het
Prpf40b	T	A	15: 99,304,068	F16I	unknown	Het
Rasa2	G	A	9: 96,602,738	P141L	probably damaging	Het
Rtl1	A	G	12: 109,592,216	V1063A	probably benign	Het
Sema4d	A	T	13: 51,705,156	C512*	probably null	Het
Slc19a2	A	G	1: 164,257,225	N228S	probably benign	Het
Tcf4	A	T	18: 69,500,923		probably benign	Het
Tnks2	T	C	19: 36,854,953	V264A	possibly damaging	Het
Ugt2b35	T	A	5: 87,001,443	S184R	probably damaging	Het
Usp53	T	C	3: 122,947,363	E746G	probably benign	Het
Utp18	T	C	11: 93,876,077	D268G	probably damaging	Het
Vmn1r172	T	A	7: 23,660,327	Y212*	probably null	Het
Vmn2r100	T	A	17: 19,504,840	C10*	probably null	Het
Vmn2r113	G	T	17: 22,945,527	V135F	probably benign	Het
Vps54	T	C	11: 21,292,045	F387L	probably benign	Het
Xab2	A	C	8: 3,613,389	D450E	probably benign	Het
Zfp408	G	T	2: 91,645,016	R598S	probably benign	Het
Zfp788	T	A	7: 41,648,614	C225S	probably benign	Het
Zfp944	T	A	17: 22,339,880	K129*	probably null	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
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'- CTTAACATTGGTTGCCCTGC -3'
(R):5'- GGGACTTCATCATAGCCTCG -3'

Sequencing Primer
(F):5'- ATTGGTTGCCCTGCCTTCC -3'
(R):5'- TGTTCATAGATTTCAATGGAGAAGGG -3'

Posted On

2020-07-13