Mutagenetix > Incidental Mutation

Incidental Mutation 'R0032:Erf'

18620

Institutional Source

Beutler Lab

Gene Symbol

Erf

Ensembl Gene

ENSMUSG00000040857

Gene Name

Ets2 repressor factor

Synonyms

MMRRC Submission

038326-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0032 (G1) of strain 731

Quality Score

Status

Validated

Chromosome

Chromosomal Location

24941986-24950186 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24944500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 277 (Y277C)

Ref Sequence

ENSEMBL: ENSMUSP00000041912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045847] [ENSMUST00000116343]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045847
AA Change: Y277C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041912
Gene: ENSMUSG00000040857
AA Change: Y277C

Domain	Start	End	E-Value	Type
ETS	26	111	2.23e-51	SMART
low complexity region	159	180	N/A	INTRINSIC
low complexity region	251	269	N/A	INTRINSIC
low complexity region	288	307	N/A	INTRINSIC
low complexity region	362	373	N/A	INTRINSIC
low complexity region	397	425	N/A	INTRINSIC
low complexity region	429	442	N/A	INTRINSIC
low complexity region	459	477	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116343

SMART Domains

Protein: ENSMUSP00000112046
Gene: ENSMUSG00000040857

Domain	Start	End	E-Value	Type
ETS	26	111	2.23e-51	SMART
low complexity region	131	143	N/A	INTRINSIC

Meta Mutation Damage Score

0.2424

Coding Region Coverage

1x: 80.9%
3x: 73.4%
10x: 52.4%
20x: 32.5%

Validation Efficiency

94% (87/93)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality around E10.5, reduced size, brain hypoplasia, defects in extraembryonic tissue formation affecting the chorion, allantois, placental labyrinth and umbilical cord, and increase in apoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	A	10: 106,959,156 (GRCm39)	T97S	probably benign	Het
Adcy1	T	C	11: 7,094,729 (GRCm39)	S552P	possibly damaging	Het
C2cd3	T	A	7: 100,093,652 (GRCm39)		probably benign	Het
Cd86	A	T	16: 36,441,235 (GRCm39)	S77R	probably damaging	Het
Cfap54	C	T	10: 92,768,559 (GRCm39)	R188H	probably benign	Het
Cpne8	T	A	15: 90,453,771 (GRCm39)		probably benign	Het
Ctsg	T	A	14: 56,339,196 (GRCm39)	I21F	probably damaging	Het
Cyp2j9	T	G	4: 96,457,043 (GRCm39)	N476T	possibly damaging	Het
Dcaf4	G	A	12: 83,582,762 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,746,387 (GRCm39)		probably null	Het
Dicer1	A	T	12: 104,671,057 (GRCm39)	L995*	probably null	Het
Dnah10	A	G	5: 124,877,955 (GRCm39)	K2623R	possibly damaging	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Dnmbp	A	C	19: 43,891,158 (GRCm39)	L203R	probably damaging	Het
Eif4g1	C	T	16: 20,504,648 (GRCm39)	S829F	probably damaging	Het
Enkur	T	C	2: 21,194,115 (GRCm39)	I153V	probably benign	Het
Fcsk	G	A	8: 111,618,735 (GRCm39)	T341M	possibly damaging	Het
Fstl5	T	A	3: 76,555,742 (GRCm39)		probably benign	Het
Grm3	A	G	5: 9,561,452 (GRCm39)		probably null	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Ipo8	A	G	6: 148,712,209 (GRCm39)	C261R	probably damaging	Het
Itga11	T	C	9: 62,681,377 (GRCm39)	F998L	probably benign	Het
Krt74	T	A	15: 101,669,887 (GRCm39)		noncoding transcript	Het
Me2	T	G	18: 73,927,596 (GRCm39)	M219L	probably benign	Het
Mlh3	A	G	12: 85,292,523 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 41,015,321 (GRCm39)	V842E	probably benign	Het
Oma1	T	A	4: 103,223,209 (GRCm39)	S465T	possibly damaging	Het
Opa1	A	T	16: 29,433,887 (GRCm39)	H574L	probably damaging	Het
Pcsk5	T	C	19: 17,542,179 (GRCm39)	N804S	possibly damaging	Het
Pde4a	C	A	9: 21,112,728 (GRCm39)		probably benign	Het
Pilra	T	A	5: 137,829,527 (GRCm39)	D179V	probably damaging	Het
Piwil1	G	A	5: 128,820,344 (GRCm39)	S247N	probably benign	Het
Prss58	T	G	6: 40,872,633 (GRCm39)	T158P	probably benign	Het
Slc35e3	T	C	10: 117,580,837 (GRCm39)	M156V	probably benign	Het
Slit2	G	A	5: 48,414,198 (GRCm39)	R938Q	probably damaging	Het
Syt8	T	C	7: 141,992,926 (GRCm39)	V152A	probably benign	Het
Tppp2	G	T	14: 52,156,866 (GRCm39)	R81L	possibly damaging	Het
Trpc3	A	G	3: 36,698,405 (GRCm39)	I618T	probably damaging	Het
Zc3h4	T	A	7: 16,168,565 (GRCm39)	D891E	unknown	Het
Zfp120	A	T	2: 149,959,512 (GRCm39)	V270E	possibly damaging	Het

Other mutations in Erf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02039:Erf	APN	7	24,943,969 (GRCm39)	missense	possibly damaging	0.72
eldorado	UTSW	7	24,945,534 (GRCm39)	missense	probably damaging	1.00
Llama	UTSW	7	24,945,690 (GRCm39)	missense	probably damaging	1.00
R0032:Erf	UTSW	7	24,944,500 (GRCm39)	missense	possibly damaging	0.96
R0506:Erf	UTSW	7	24,943,801 (GRCm39)	missense	probably damaging	1.00
R1674:Erf	UTSW	7	24,944,731 (GRCm39)	missense	possibly damaging	0.96
R4856:Erf	UTSW	7	24,945,636 (GRCm39)	missense	probably damaging	0.99
R5180:Erf	UTSW	7	24,945,690 (GRCm39)	missense	probably damaging	1.00
R5776:Erf	UTSW	7	24,945,534 (GRCm39)	missense	probably damaging	1.00
R6008:Erf	UTSW	7	24,945,041 (GRCm39)	missense	probably benign	0.04
R6912:Erf	UTSW	7	24,944,003 (GRCm39)	missense	possibly damaging	0.53
R7446:Erf	UTSW	7	24,945,556 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-03-25