Mutagenetix > Incidental Mutation

Incidental Mutation 'R9551:Edrf1'

720493

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: 0.945) question?

Stock #

R9551 (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 G at 133240742 bp (GRCm39)

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: 99.6%
20x: 98.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,916,064 (GRCm39)	L1660Q	probably benign	Het
Blvrb	A	G	7: 27,158,786 (GRCm39)	D62G	probably benign	Het
Ccdc68	T	A	18: 70,089,113 (GRCm39)	S219T	probably damaging	Het
Cep120	C	A	18: 53,819,033 (GRCm39)	R886L	possibly damaging	Het
Cep290	T	C	10: 100,372,729 (GRCm39)	S1176P	probably damaging	Het
Cnbp	A	G	6: 87,822,108 (GRCm39)	Y139H	probably damaging	Het
Csmd3	T	A	15: 48,655,356 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,172,246 (GRCm39)	V387A	probably damaging	Het
Dab2ip	T	A	2: 35,605,330 (GRCm39)	C504S	possibly damaging	Het
Depdc7	C	T	2: 104,553,220 (GRCm39)		probably null	Het
Elp3	T	C	14: 65,797,634 (GRCm39)	I365V	probably benign	Het
Erbb4	G	A	1: 68,779,642 (GRCm39)	Q45*	probably null	Het
Fam124a	T	G	14: 62,843,988 (GRCm39)	S499A	possibly damaging	Het
Has2	T	C	15: 56,531,090 (GRCm39)	K542E	probably benign	Het
Hnrnpk	A	G	13: 58,544,058 (GRCm39)	S116P	probably benign	Het
Hs3st6	T	C	17: 24,977,228 (GRCm39)	L236P	probably damaging	Het
Il15	T	A	8: 83,061,177 (GRCm39)	H100L	probably benign	Het
Kif14	C	A	1: 136,455,219 (GRCm39)	S1630R	probably damaging	Het
Madd	T	C	2: 91,000,434 (GRCm39)	T544A	probably damaging	Het
Mamdc4	T	C	2: 25,460,035 (GRCm39)	D76G	probably damaging	Het
Mark2	G	T	19: 7,263,263 (GRCm39)	T201N	possibly damaging	Het
Mfsd9	T	C	1: 40,813,152 (GRCm39)	T388A	probably damaging	Het
Mgst3	T	C	1: 167,205,871 (GRCm39)	Y36C	probably damaging	Het
Myh11	T	A	16: 14,064,673 (GRCm39)	E215V		Het
Nmd3	T	C	3: 69,647,329 (GRCm39)	V277A	possibly damaging	Het
Or11g1	C	T	14: 50,651,625 (GRCm39)	S208F	probably benign	Het
Or2y14	C	T	11: 49,404,942 (GRCm39)	T159I	probably damaging	Het
Or6k4	A	T	1: 173,964,885 (GRCm39)	T192S	probably benign	Het
Pbx1	T	C	1: 168,258,910 (GRCm39)	D55G	possibly damaging	Het
Pdzrn3	T	C	6: 101,127,855 (GRCm39)	D937G	probably damaging	Het
Phb1	G	A	11: 95,562,257 (GRCm39)	V45I	probably benign	Het
Pi4ka	T	C	16: 17,125,574 (GRCm39)	E1187G		Het
Piezo2	T	C	18: 63,166,033 (GRCm39)	E2066G	possibly damaging	Het
Pkn2	T	C	3: 142,499,594 (GRCm39)	D977G	probably damaging	Het
Polr1b	C	T	2: 128,957,684 (GRCm39)	R580*	probably null	Het
Pyroxd2	A	G	19: 42,719,756 (GRCm39)		probably null	Het
Rpain	T	C	11: 70,865,816 (GRCm39)	S194P	probably damaging	Het
Scaf1	A	G	7: 44,658,351 (GRCm39)	L176P	probably damaging	Het
Scgb1b12	C	A	7: 32,033,974 (GRCm39)	A78E	probably benign	Het
Scgb2b19	A	G	7: 32,979,198 (GRCm39)	F28S	probably damaging	Het
Setx	T	C	2: 29,020,244 (GRCm39)	M77T	possibly damaging	Het
Skint5	C	T	4: 113,798,052 (GRCm39)	C177Y	possibly damaging	Het
Slco6c1	T	C	1: 97,055,827 (GRCm39)	S25G	probably benign	Het
Sorbs1	G	A	19: 40,361,923 (GRCm39)	R154*	probably null	Het
Ssb	T	A	2: 69,696,982 (GRCm39)	D107E	probably benign	Het
Tcerg1l	T	C	7: 137,995,998 (GRCm39)	D170G	possibly damaging	Het
Tle5	T	C	10: 81,399,988 (GRCm39)	V62A	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmco4	G	A	4: 138,779,895 (GRCm39)	V447M	probably damaging	Het
Trf	C	T	9: 103,099,283 (GRCm39)	V339I	probably benign	Het
Ucp1	T	C	8: 84,024,509 (GRCm39)	L278P	probably damaging	Het
Vmn1r82	A	G	7: 12,039,600 (GRCm39)	N291S	possibly damaging	Het
Vmn1r86	A	T	7: 12,836,781 (GRCm39)	Y32N	possibly damaging	Het
Wnt10b	C	A	15: 98,670,713 (GRCm39)	G272W	probably damaging	Het
Xpo4	A	G	14: 57,828,512 (GRCm39)	F783L	possibly damaging	Het
Yipf4	T	C	17: 74,806,024 (GRCm39)	F221S	probably damaging	Het
Zfp1005	C	A	2: 150,109,856 (GRCm39)	T182K	unknown	Het
Zfp512	G	A	5: 31,623,676 (GRCm39)	C14Y	probably benign	Het
Zfp595	A	T	13: 67,465,067 (GRCm39)	S402T	probably damaging	Het
Zfp658	G	T	7: 43,222,567 (GRCm39)	V281F	probably benign	Het
Zfp827	T	G	8: 79,787,403 (GRCm39)	W190G	probably damaging	Het
Zpld2	G	A	4: 133,929,312 (GRCm39)	P331L	probably benign	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
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
R9552:Edrf1	UTSW	7	133,240,742 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGGCTCCTTGTGAATCCTGATTTG -3'
(R):5'- TGCATCTCCAATTGAACTGCG -3'

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

Posted On

2022-08-09