Mutagenetix > Incidental Mutation

Incidental Mutation 'R0399:Ehf'

38037

Institutional Source

Beutler Lab

Gene Symbol

Ehf

Ensembl Gene

ENSMUSG00000012350

Gene Name

ets homologous factor

Synonyms

9030625L19Rik

MMRRC Submission

038604-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.767) question?

Stock #

R0399 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

103093776-103133620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103097215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 246 (Y246H)

Ref Sequence

ENSEMBL: ENSMUSP00000106807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090475] [ENSMUST00000111174] [ENSMUST00000111176] [ENSMUST00000125788]

AlphaFold

O70273

Predicted Effect

probably damaging
Transcript: ENSMUST00000090475
AA Change: Y269H

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

SMART Domains

Protein: ENSMUSP00000087961
Gene: ENSMUSG00000012350
AA Change: Y269H

Domain	Start	End	E-Value	Type
SAM_PNT	31	115	1.39e-35	SMART
ETS	206	293	1.84e-52	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111174
AA Change: Y269H

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

SMART Domains

Protein: ENSMUSP00000106805
Gene: ENSMUSG00000012350
AA Change: Y269H

Domain	Start	End	E-Value	Type
SAM_PNT	31	115	1.39e-35	SMART
ETS	206	293	1.84e-52	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111176
AA Change: Y246H

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

SMART Domains

Protein: ENSMUSP00000106807
Gene: ENSMUSG00000012350
AA Change: Y246H

Domain	Start	End	E-Value	Type
SAM_PNT	31	115	1.39e-35	SMART
ETS	183	270	1.84e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125788

SMART Domains

Protein: ENSMUSP00000121103
Gene: ENSMUSG00000012350

Domain	Start	End	E-Value	Type
SAM_PNT	42	126	1.39e-35	SMART
PDB:3JTG\|A	215	242	1e-8	PDB
Blast:ETS	217	242	1e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137774

Meta Mutation Damage Score

0.4937

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to an ETS transcription factor subfamily characterized by epithelial-specific expression (ESEs). The encoded protein acts as a transcriptional repressor and may be involved in epithelial differentiation and carcinogenesis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	T	C	8: 107,231,174 (GRCm39)	M120T	unknown	Het
Actr1a	A	T	19: 46,373,450 (GRCm39)		probably null	Het
Anapc5	A	T	5: 122,929,816 (GRCm39)	V555D	probably damaging	Het
Aox1	A	G	1: 58,108,008 (GRCm39)		probably null	Het
Arhgap30	A	G	1: 171,232,384 (GRCm39)	E343G	probably damaging	Het
Asap2	C	T	12: 21,267,998 (GRCm39)	T291I	possibly damaging	Het
Atp5f1a	T	A	18: 77,869,536 (GRCm39)	Y439*	probably null	Het
Auts2	A	T	5: 131,469,362 (GRCm39)	S428T	probably benign	Het
B3gnt7	T	A	1: 86,233,433 (GRCm39)	C109*	probably null	Het
C4b	C	A	17: 34,947,843 (GRCm39)	Q1657H	probably damaging	Het
Cadm2	A	T	16: 66,544,225 (GRCm39)	L268*	probably null	Het
Cep290	G	A	10: 100,390,262 (GRCm39)		probably benign	Het
Cep68	T	G	11: 20,180,571 (GRCm39)	I687L	probably benign	Het
Chd6	T	A	2: 160,894,608 (GRCm39)	D84V	probably damaging	Het
Clpx	A	G	9: 65,230,051 (GRCm39)	T514A	probably benign	Het
Cox18	A	T	5: 90,362,887 (GRCm39)	C324S	probably benign	Het
Cryzl2	T	C	1: 157,289,586 (GRCm39)	Y75H	probably damaging	Het
Cxcr6	C	T	9: 123,640,016 (GRCm39)	A339V	possibly damaging	Het
Dock1	T	C	7: 134,765,171 (GRCm39)	L1721P	probably benign	Het
Dstyk	T	C	1: 132,380,818 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,827,047 (GRCm39)	T1029A	possibly damaging	Het
Epas1	T	C	17: 87,112,621 (GRCm39)	V73A	probably benign	Het
Filip1	A	G	9: 79,725,592 (GRCm39)	I1009T	possibly damaging	Het
Glis3	A	T	19: 28,276,168 (GRCm39)		probably benign	Het
Gm17333	A	T	16: 77,649,678 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,785,031 (GRCm39)	R358H	possibly damaging	Het
Gpr155	A	T	2: 73,200,346 (GRCm39)	I387N	possibly damaging	Het
Gria1	A	G	11: 57,076,853 (GRCm39)	D83G	probably damaging	Het
Grid2	A	G	6: 64,643,036 (GRCm39)	I933V	probably benign	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Hook2	A	G	8: 85,720,196 (GRCm39)		probably benign	Het
Ift140	T	A	17: 25,269,314 (GRCm39)	S656R	possibly damaging	Het
Il11ra1	A	T	4: 41,766,185 (GRCm39)	T241S	probably benign	Het
Kank1	A	G	19: 25,388,606 (GRCm39)	I760V	probably benign	Het
Kansl1	T	C	11: 104,314,958 (GRCm39)	E360G	possibly damaging	Het
Klf9	A	T	19: 23,119,446 (GRCm39)	S110C	probably damaging	Het
Klhl31	A	G	9: 77,557,935 (GRCm39)	N217S	probably benign	Het
Lct	T	C	1: 128,228,262 (GRCm39)	Y1077C	probably damaging	Het
Lrrc49	A	T	9: 60,517,529 (GRCm39)		probably benign	Het
Lrrn1	T	A	6: 107,546,081 (GRCm39)	H626Q	probably benign	Het
Mmp28	A	T	11: 83,342,558 (GRCm39)	L40Q	probably damaging	Het
Mroh1	C	T	15: 76,336,299 (GRCm39)	A1530V	probably benign	Het
Myo1e	A	G	9: 70,209,075 (GRCm39)		probably benign	Het
Naa25	A	T	5: 121,573,553 (GRCm39)	M761L	probably benign	Het
Ncln	G	A	10: 81,324,131 (GRCm39)	A465V	probably damaging	Het
Nktr	A	G	9: 121,560,550 (GRCm39)	N98S	probably damaging	Het
Or52h9	T	A	7: 104,202,576 (GRCm39)	V150E	probably benign	Het
Or5a1	G	C	19: 12,097,734 (GRCm39)	A114G	possibly damaging	Het
Or6d15	C	A	6: 116,559,742 (GRCm39)	S55I	probably benign	Het
Or8b4	G	T	9: 37,830,849 (GRCm39)	A304S	possibly damaging	Het
Or9g3	T	C	2: 85,590,248 (GRCm39)	I157M	possibly damaging	Het
Pacsin2	T	C	15: 83,270,983 (GRCm39)	Y222C	probably damaging	Het
Pcdhb15	C	T	18: 37,607,221 (GRCm39)	T151M	possibly damaging	Het
Plcz1	C	A	6: 139,968,956 (GRCm39)	V161L	possibly damaging	Het
Ppp6c	G	A	2: 39,090,136 (GRCm39)		probably benign	Het
Relch	A	G	1: 105,678,684 (GRCm39)		probably benign	Het
Rhbdf2	T	A	11: 116,494,818 (GRCm39)	Y286F	probably benign	Het
Rtn3	A	T	19: 7,435,241 (GRCm39)	D231E	probably damaging	Het
Slc35c2	A	C	2: 165,122,815 (GRCm39)	Y156*	probably null	Het
Spata46	A	G	1: 170,139,106 (GRCm39)	D35G	probably damaging	Het
Tmed3	A	G	9: 89,584,926 (GRCm39)	F110L	possibly damaging	Het
Tmem104	T	G	11: 115,092,134 (GRCm39)		probably benign	Het
Tpbg	T	A	9: 85,726,991 (GRCm39)	V320E	possibly damaging	Het
Trib2	T	C	12: 15,843,664 (GRCm39)	D190G	probably damaging	Het
Tspan2	A	G	3: 102,666,701 (GRCm39)	T26A	probably damaging	Het
Usp17lb	A	C	7: 104,490,358 (GRCm39)	Y190D	possibly damaging	Het
Utp18	C	T	11: 93,770,973 (GRCm39)		probably benign	Het
Utp20	A	T	10: 88,656,841 (GRCm39)	D121E	probably damaging	Het
Vmn1r80	T	A	7: 11,927,244 (GRCm39)	M118K	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,794 (GRCm39)	S300G	probably benign	Het

Other mutations in Ehf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00731:Ehf	APN	2	103,097,185 (GRCm39)	splice site	probably null
IGL01296:Ehf	APN	2	103,098,500 (GRCm39)	splice site	probably null
IGL02095:Ehf	APN	2	103,097,336 (GRCm39)	missense	probably damaging	1.00
R1116:Ehf	UTSW	2	103,097,354 (GRCm39)	missense	probably damaging	1.00
R1728:Ehf	UTSW	2	103,104,251 (GRCm39)	missense	possibly damaging	0.51
R1729:Ehf	UTSW	2	103,104,251 (GRCm39)	missense	possibly damaging	0.51
R2240:Ehf	UTSW	2	103,104,420 (GRCm39)	missense	probably benign
R2287:Ehf	UTSW	2	103,097,469 (GRCm39)	missense	possibly damaging	0.89
R2397:Ehf	UTSW	2	103,107,164 (GRCm39)	missense	probably damaging	0.99
R4094:Ehf	UTSW	2	103,121,095 (GRCm39)	intron	probably benign
R4687:Ehf	UTSW	2	103,097,471 (GRCm39)	missense	probably damaging	1.00
R4930:Ehf	UTSW	2	103,097,202 (GRCm39)	missense	probably damaging	1.00
R5695:Ehf	UTSW	2	103,097,124 (GRCm39)	missense	probably damaging	1.00
R5925:Ehf	UTSW	2	103,097,338 (GRCm39)	splice site	probably null
R6656:Ehf	UTSW	2	103,113,928 (GRCm39)	missense	probably damaging	1.00
R8217:Ehf	UTSW	2	103,109,976 (GRCm39)	missense	possibly damaging	0.94
R9008:Ehf	UTSW	2	103,097,173 (GRCm39)	missense
Z1176:Ehf	UTSW	2	103,109,863 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCTTAGCAAGAAGCACAAGGC -3'
(R):5'- ACCGTTCGGAAGGCATCTTCAG -3'

Sequencing Primer
(F):5'- GTACATTTGTTCCCCACAAAAGG -3'
(R):5'- TCAGGTTCCTGAAGTCAGAAGC -3'

Posted On

2013-05-23