Mutagenetix > Incidental Mutation

Incidental Mutation 'R9051:Edrf1'

688373

Institutional Source

Beutler Lab

Gene Symbol

Edrf1

Ensembl Gene

ENSMUSG00000039990

Gene Name

erythroid differentiation regulatory factor 1

Synonyms

2700050L05Rik

MMRRC Submission

068877-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

R9051 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

133239422-133274710 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 133273207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1221 (I1221L)

Ref Sequence

ENSEMBL: ENSMUSP00000059166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033278] [ENSMUST00000051169] [ENSMUST00000122136] [ENSMUST00000128901]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033278

SMART Domains

Protein: ENSMUSP00000033278
Gene: ENSMUSG00000030981

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	46	107	5.6e-13	PFAM
low complexity region	117	133	N/A	INTRINSIC
ZnMc	166	327	2.67e-32	SMART
HX	332	390	1.97e-1	SMART
HX	393	448	5.36e-6	SMART
HX	450	497	9.33e-6	SMART
HX	505	548	1.11e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000051169
AA Change: I1221L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000059166
Gene: ENSMUSG00000039990
AA Change: I1221L

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: ENSMUST00000122136

SMART Domains

Protein: ENSMUSP00000113853
Gene: ENSMUSG00000030981

Domain	Start	End	E-Value	Type
Pfam:PG_binding_1	46	107	1.9e-13	PFAM
low complexity region	117	133	N/A	INTRINSIC
ZnMc	166	327	2.67e-32	SMART
Pfam:Hemopexin	351	390	4.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128901
AA Change: I1187L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115641
Gene: ENSMUSG00000039990
AA Change: I1187L

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

SMART Domains

Protein: ENSMUSP00000134967
Gene: ENSMUSG00000039990
AA Change: I107L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,285,232 (GRCm39)	T3289S	probably damaging	Het
Actr1b	G	T	1: 36,740,534 (GRCm39)	Q240K	probably benign	Het
Adamts19	T	C	18: 59,034,048 (GRCm39)	V341A	probably damaging	Het
Akirin2	C	A	4: 34,551,148 (GRCm39)	S35*	probably null	Het
Alg3	G	T	16: 20,427,765 (GRCm39)	Q90K	probably benign	Het
Alox12	C	T	11: 70,138,153 (GRCm39)	R394H	possibly damaging	Het
Ankrd17	A	C	5: 90,411,134 (GRCm39)	M1387R	probably damaging	Het
Anp32b	T	G	4: 46,468,592 (GRCm39)	F121V	possibly damaging	Het
Atp2b2	A	G	6: 113,740,566 (GRCm39)	V815A	probably damaging	Het
Atxn7l1	T	C	12: 33,417,420 (GRCm39)	L527S	probably benign	Het
B9d2	C	T	7: 25,385,462 (GRCm39)	L91F	possibly damaging	Het
Bcl2l11	T	A	2: 128,000,221 (GRCm39)	I188N	probably damaging	Het
Bnc2	A	C	4: 84,210,138 (GRCm39)	S744A	probably benign	Het
Casr	T	G	16: 36,330,414 (GRCm39)	M307L	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cd109	TTATA	TTATATATA	9: 78,619,813 (GRCm39)		probably benign	Het
Cd22	A	G	7: 30,575,449 (GRCm39)	S198P	probably benign	Het
Cd37	C	A	7: 44,886,622 (GRCm39)	V99L	probably benign	Het
Cdkn1c	A	G	7: 143,013,964 (GRCm39)	S161P	possibly damaging	Het
Chi3l1	G	T	1: 134,111,919 (GRCm39)		probably null	Het
Col4a2	T	C	8: 11,498,198 (GRCm39)	F1669S	probably damaging	Het
Dchs2	A	T	3: 83,261,493 (GRCm39)	H2587L	probably benign	Het
Ddx19a	A	T	8: 111,710,228 (GRCm39)	M124K	probably benign	Het
Dnhd1	A	T	7: 105,341,933 (GRCm39)	H1244L	possibly damaging	Het
Dnpep	G	A	1: 75,292,329 (GRCm39)	P165L	probably damaging	Het
Dpp3	T	C	19: 4,973,172 (GRCm39)	R141G	probably benign	Het
Dpysl3	T	C	18: 43,462,814 (GRCm39)	D521G	probably damaging	Het
Dusp4	T	A	8: 35,284,345 (GRCm39)	M220K	probably damaging	Het
Duxf4	G	A	10: 58,071,711 (GRCm39)	P168S	probably damaging	Het
Edc4	T	A	8: 106,613,833 (GRCm39)	L391Q	probably damaging	Het
Elavl2	A	G	4: 91,199,847 (GRCm39)	L12P	probably benign	Het
Fastkd3	T	A	13: 68,733,071 (GRCm39)	V464D	probably damaging	Het
Flt4	C	A	11: 49,527,598 (GRCm39)	N920K	probably benign	Het
Gimap3	T	C	6: 48,742,259 (GRCm39)	T224A	probably benign	Het
Gm9772	T	A	17: 22,225,565 (GRCm39)	K112*	probably null	Het
Gp5	C	A	16: 30,127,976 (GRCm39)	V233L		Het
Gpr25	A	T	1: 136,188,026 (GRCm39)	W196R	probably benign	Het
Hs3st4	G	A	7: 123,582,680 (GRCm39)	G93S	probably damaging	Het
Igsf10	A	G	3: 59,236,668 (GRCm39)	L1171S	probably benign	Het
Itgb7	C	T	15: 102,126,359 (GRCm39)	G526S	possibly damaging	Het
Kcnh8	G	A	17: 53,141,642 (GRCm39)	C295Y	probably damaging	Het
Klhl8	A	G	5: 104,015,709 (GRCm39)		probably null	Het
Krt1c	T	A	15: 101,726,317 (GRCm39)	I74F	unknown	Het
Lamp5	G	T	2: 135,911,054 (GRCm39)	M262I	probably benign	Het
Lrp5	G	T	19: 3,680,156 (GRCm39)	R443S	possibly damaging	Het
Lrrc66	G	T	5: 73,765,267 (GRCm39)	A592E	probably benign	Het
Lrrc66	C	T	5: 73,765,268 (GRCm39)	A592T	probably benign	Het
Mettl23	T	A	11: 116,744,865 (GRCm39)	V93D	unknown	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mkrn2os	G	A	6: 115,562,325 (GRCm39)	R213W	probably benign	Het
Mrps36	T	A	13: 100,877,715 (GRCm39)	I22L	probably damaging	Het
Msantd5f4	A	G	4: 73,557,185 (GRCm39)	N6S	possibly damaging	Het
Myocd	T	C	11: 65,077,795 (GRCm39)	R667G	probably benign	Het
Ncapg	T	A	5: 45,853,140 (GRCm39)	L869M	probably damaging	Het
Ndst3	T	C	3: 123,465,549 (GRCm39)	N141S	probably benign	Het
Neu2	A	T	1: 87,524,965 (GRCm39)	R317*	probably null	Het
Nf1	G	T	11: 79,364,168 (GRCm39)	V1533F	probably damaging	Het
Npy4r	T	A	14: 33,869,083 (GRCm39)	R68S	possibly damaging	Het
Nr1h5	T	C	3: 102,853,427 (GRCm39)	H360R	probably null	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or4f14c	T	C	2: 111,941,441 (GRCm39)	D52G	probably damaging	Het
Or9s15	T	C	1: 92,524,978 (GRCm39)	S246P	probably damaging	Het
Osmr	A	C	15: 6,882,027 (GRCm39)	V39G	probably damaging	Het
Plekhm2	T	C	4: 141,359,732 (GRCm39)	D345G	possibly damaging	Het
Prkaa2	G	T	4: 104,906,600 (GRCm39)	S165*	probably null	Het
Qser1	A	T	2: 104,593,292 (GRCm39)	F1575Y	possibly damaging	Het
Rasl11a	C	A	5: 146,782,107 (GRCm39)	D27E	probably benign	Het
Ret	A	T	6: 118,142,888 (GRCm39)	Y929*	probably null	Het
Samd9l	T	A	6: 3,373,493 (GRCm39)	E1256V	probably benign	Het
Scnn1g	A	G	7: 121,341,566 (GRCm39)	I243V	possibly damaging	Het
Slc6a3	C	T	13: 73,718,031 (GRCm39)	R514*	probably null	Het
Sorcs3	C	T	19: 48,194,809 (GRCm39)	A64V	probably benign	Het
Sos1	G	T	17: 80,715,723 (GRCm39)	N1011K	probably benign	Het
Srbd1	C	A	17: 86,428,115 (GRCm39)	A373S	possibly damaging	Het
Tas1r1	C	T	4: 152,122,833 (GRCm39)	W4*	probably null	Het
Tcf15	C	T	2: 151,985,690 (GRCm39)	R49C	probably damaging	Het
Tex30	A	G	1: 44,127,136 (GRCm39)	V124A	possibly damaging	Het
Tgif1	T	C	17: 71,151,882 (GRCm39)	D243G		Het
Tgtp1	T	G	11: 48,877,916 (GRCm39)	D263A	probably damaging	Het
Themis3	T	A	17: 66,862,864 (GRCm39)	T365S	probably benign	Het
Thoc2l	C	A	5: 104,666,818 (GRCm39)	P447T	probably benign	Het
Tprg1	A	T	16: 25,231,662 (GRCm39)	I213F	probably damaging	Het
Traf4	A	T	11: 78,052,005 (GRCm39)	C160S	probably damaging	Het
Trio	T	C	15: 27,732,770 (GRCm39)	E3037G	possibly damaging	Het
Ttbk2	G	T	2: 120,575,911 (GRCm39)	S1022*	probably null	Het
Ttc6	T	C	12: 57,783,949 (GRCm39)	Y1803H	probably damaging	Het
Ttn	A	C	2: 76,549,452 (GRCm39)	Y31742D	probably benign	Het
Ttn	G	T	2: 76,617,595 (GRCm39)	P16292Q	probably damaging	Het
Ubr5	A	G	15: 38,002,503 (GRCm39)	V1510A		Het
Vac14	A	G	8: 111,379,869 (GRCm39)	D389G	probably benign	Het
Vwa8	A	G	14: 79,324,150 (GRCm39)	D1151G	probably benign	Het
Zfp608	T	C	18: 55,032,266 (GRCm39)	N558S	probably damaging	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
R4770:Edrf1	UTSW	7	133,260,339 (GRCm39)	missense	probably damaging	0.99
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
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'- AAGGCAGGGGTCTTTCTCTG -3'
(R):5'- GGACCTGATTAAACGCTATGTCC -3'

Sequencing Primer
(F):5'- GTCAGATACTCTAAGAAGTGCCTG -3'
(R):5'- CTCATATTTAATAAGTCTCAGCACCG -3'

Posted On

2021-11-19