Mutagenetix > Incidental Mutation

Incidental Mutation 'R4930:Ehf'

381128

Institutional Source

Beutler Lab

Gene Symbol

Ehf

Ensembl Gene

ENSMUSG00000012350

Gene Name

ets homologous factor

Synonyms

9030625L19Rik

MMRRC Submission

042531-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.767) question?

Stock #

R4930 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103093776-103133620 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103097202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 250 (R250L)

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: R273L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000087961
Gene: ENSMUSG00000012350
AA Change: R273L

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: R273L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106805
Gene: ENSMUSG00000012350
AA Change: R273L

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: R250L

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

SMART Domains

Protein: ENSMUSP00000106807
Gene: ENSMUSG00000012350
AA Change: R250L

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

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

99% (88/89)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	C	T	12: 72,953,008 (GRCm39)	E242K	possibly damaging	Het
A930011G23Rik	A	G	5: 99,370,263 (GRCm39)	M499T	possibly damaging	Het
Abcb8	G	A	5: 24,605,779 (GRCm39)	V196M	possibly damaging	Het
Ahnak	T	C	19: 8,988,331 (GRCm39)	M3205T	possibly damaging	Het
Ankrd1	A	G	19: 36,092,433 (GRCm39)	Y265H	probably damaging	Het
Apeh	A	G	9: 107,965,024 (GRCm39)	S446P	probably benign	Het
Apip	C	A	2: 102,922,226 (GRCm39)	Y197*	probably null	Het
Arhgef11	T	G	3: 87,635,901 (GRCm39)	V925G	probably damaging	Het
Arid4b	T	C	13: 14,362,062 (GRCm39)	V929A	probably damaging	Het
Asah2	T	A	19: 32,030,306 (GRCm39)	D122V	probably benign	Het
B2m	A	T	2: 121,982,128 (GRCm39)	D116V	possibly damaging	Het
Bhmt-ps1	A	G	4: 26,369,184 (GRCm39)		noncoding transcript	Het
Cacna1g	T	A	11: 94,334,899 (GRCm39)	I803F	probably damaging	Het
Ccdc43	A	T	11: 102,581,111 (GRCm39)	V113E	probably damaging	Het
Cenpj	A	T	14: 56,772,238 (GRCm39)	Y388*	probably null	Het
Chd3	G	A	11: 69,245,034 (GRCm39)		probably benign	Het
Chil3	C	T	3: 106,071,524 (GRCm39)	D47N	possibly damaging	Het
Colgalt2	A	G	1: 152,375,710 (GRCm39)	T361A	possibly damaging	Het
Cops3	C	A	11: 59,726,193 (GRCm39)		probably benign	Het
Crb2	G	T	2: 37,673,326 (GRCm39)	G74V	probably damaging	Het
Cspg4b	G	T	13: 113,464,196 (GRCm39)	G1453C	probably damaging	Het
Cyp20a1	A	T	1: 60,405,878 (GRCm39)	Y224F	probably damaging	Het
Diaph3	A	G	14: 87,378,602 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,550,904 (GRCm39)	Y3127*	probably null	Het
Eef1akmt3	A	C	10: 126,877,224 (GRCm39)	S14A	possibly damaging	Het
Eps8l1	G	A	7: 4,463,915 (GRCm39)	R13Q	possibly damaging	Het
Frem2	A	C	3: 53,563,736 (GRCm39)	V257G	possibly damaging	Het
Gc	T	C	5: 89,587,448 (GRCm39)	T259A	probably benign	Het
Gm4952	A	T	19: 12,604,376 (GRCm39)	N263Y	probably benign	Het
Gpcpd1	T	A	2: 132,388,794 (GRCm39)	H326L	probably damaging	Het
Helz	T	C	11: 107,510,994 (GRCm39)	F617L	probably damaging	Het
Hoxb4	T	C	11: 96,209,662 (GRCm39)	Y23H	probably damaging	Het
Hsf4	T	A	8: 105,999,330 (GRCm39)		probably null	Het
Ift56	A	T	6: 38,368,475 (GRCm39)	Y174F	probably damaging	Het
Ighv1-81	T	C	12: 115,883,924 (GRCm39)	D109G	probably damaging	Het
Irx4	T	C	13: 73,417,032 (GRCm39)	V476A	probably benign	Het
Katnb1	T	A	8: 95,823,922 (GRCm39)		probably null	Het
L3mbtl1	A	G	2: 162,807,692 (GRCm39)	Y490C	probably damaging	Het
Lemd2	A	G	17: 27,412,806 (GRCm39)		probably null	Het
Lrrc38	A	T	4: 143,096,438 (GRCm39)	T250S	probably damaging	Het
Map3k8	A	T	18: 4,349,215 (GRCm39)	Y34*	probably null	Het
Mgst1	T	A	6: 138,130,507 (GRCm39)	F79I	probably benign	Het
Midn	T	C	10: 79,991,189 (GRCm39)	S357P	probably benign	Het
Mmp3	T	A	9: 7,447,640 (GRCm39)	D208E	probably benign	Het
Mrps26	A	G	2: 130,406,862 (GRCm39)	E163G	probably damaging	Het
Mycbpap	A	T	11: 94,393,983 (GRCm39)	M371K	probably benign	Het
Mynn	A	C	3: 30,661,191 (GRCm39)	N91T	probably damaging	Het
Nek11	A	G	9: 105,177,265 (GRCm39)	L292P	probably damaging	Het
Nid1	A	T	13: 13,684,596 (GRCm39)	R1228W	probably damaging	Het
Nphs2	T	C	1: 156,148,499 (GRCm39)	Y121H	probably damaging	Het
Or1f19	T	G	16: 3,410,299 (GRCm39)	L13R	probably damaging	Het
Or4p7	G	A	2: 88,222,284 (GRCm39)	R231H	probably benign	Het
Or5ac22	C	A	16: 59,135,236 (GRCm39)	C178F	probably damaging	Het
Or5ap2	T	A	2: 85,680,237 (GRCm39)	I147N	probably benign	Het
Or5d38	A	C	2: 87,954,684 (GRCm39)	I215S	probably benign	Het
Or7e176	T	C	9: 20,171,313 (GRCm39)	I59T	probably damaging	Het
Or9q2	T	C	19: 13,772,915 (GRCm39)	H20R	probably benign	Het
P2rx7	C	T	5: 122,808,542 (GRCm39)	T308M	probably damaging	Het
Prdx6	C	T	1: 161,069,263 (GRCm39)		probably benign	Het
Rad54b	T	A	4: 11,615,579 (GRCm39)	D862E	probably damaging	Het
Ripor1	A	G	8: 106,343,814 (GRCm39)	Y344C	probably damaging	Het
Rnf112	T	C	11: 61,344,291 (GRCm39)	M43V	probably benign	Het
Rp1l1	A	G	14: 64,269,655 (GRCm39)	N1747S	probably benign	Het
Rps27	A	G	3: 90,120,306 (GRCm39)	V22A	probably damaging	Het
Spaca1	A	G	4: 34,044,236 (GRCm39)	V86A	possibly damaging	Het
Spdef	A	G	17: 27,937,136 (GRCm39)	Y156H	probably damaging	Het
Specc1	A	C	11: 62,009,784 (GRCm39)	E433D	possibly damaging	Het
Srpra	T	A	9: 35,126,326 (GRCm39)	F506L	probably benign	Het
Stxbp5	A	G	10: 9,636,610 (GRCm39)		probably benign	Het
Syne1	C	T	10: 5,002,777 (GRCm39)	R8046Q	probably damaging	Het
Tbx5	T	A	5: 120,021,090 (GRCm39)	S365R	probably benign	Het
Terb1	G	T	8: 105,174,580 (GRCm39)	P698Q	probably benign	Het
Tmbim7	T	A	5: 3,711,948 (GRCm39)	Y27*	probably null	Het
Tmem106c	C	A	15: 97,862,909 (GRCm39)	A60E	possibly damaging	Het
Ttc6	T	A	12: 57,720,609 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,562,714 (GRCm39)	I28747V	possibly damaging	Het
Unc13a	C	T	8: 72,083,148 (GRCm39)		probably null	Het
Wdr81	T	C	11: 75,342,750 (GRCm39)	D839G	probably benign	Het
Wfdc15a	G	C	2: 164,041,725 (GRCm39)	Q33E	probably benign	Het
Zfp456	T	C	13: 67,515,065 (GRCm39)	R214G	probably benign	Het
Zfp457	T	A	13: 67,442,164 (GRCm39)	Y137F	probably damaging	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
R0399:Ehf	UTSW	2	103,097,215 (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
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'- CGTCAGAAGTAGATTTTCTTTGTCCC -3'
(R):5'- TCCTGAAGTCAGAAGCTGTGG -3'

Sequencing Primer
(F):5'- AGTAGATTTTCTTTGTCCCTTCATGG -3'
(R):5'- CTGTGGCTCAGCTGTGG -3'

Posted On

2016-04-15