Mutagenetix > Incidental Mutation

Incidental Mutation 'R9008:Ehf'

685403

Institutional Source

Beutler Lab

Gene Symbol

Ehf

Ensembl Gene

ENSMUSG00000012350

Gene Name

ets homologous factor

Synonyms

9030625L19Rik

MMRRC Submission

068838-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

R9008 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103263433-103303278 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103266828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 283 (R283W)

Ref Sequence

ENSEMBL: ENSMUSP00000087961 (fasta)

Gene Model

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

AlphaFold

O70273

Predicted Effect

SMART Domains

Protein: ENSMUSP00000087961
Gene: ENSMUSG00000012350
AA Change: R283W

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: R283W

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

SMART Domains

Protein: ENSMUSP00000106805
Gene: ENSMUSG00000012350
AA Change: R283W

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: R260W

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

SMART Domains

Protein: ENSMUSP00000106807
Gene: ENSMUSG00000012350
AA Change: R260W

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (78/80)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415O20Rik	T	G	15: 98,588,612 (GRCm38)	S88A	possibly damaging	Het
4930504O13Rik	T	A	11: 58,447,383 (GRCm38)	E61V	probably benign	Het
Abcc4	A	T	14: 118,611,750 (GRCm38)	S536R	probably damaging	Het
Acacb	G	A	5: 114,248,754 (GRCm38)		silent	Het
Acsm1	T	C	7: 119,659,102 (GRCm38)	Y473H	probably benign	Het
Adam30	T	A	3: 98,162,718 (GRCm38)	C622*	probably null	Het
Adprhl2	C	T	4: 126,316,839 (GRCm38)	V283M	probably damaging	Het
AI606181	G	T	19: 41,593,593 (GRCm38)	R67S	unknown	Het
Btbd3	A	G	2: 138,283,533 (GRCm38)	I212M	probably benign	Het
C1s1	C	T	6: 124,532,540 (GRCm38)		probably null	Het
C7	T	A	15: 5,010,927 (GRCm38)	T539S		Het
Cd5l	A	C	3: 87,368,665 (GRCm38)	D314A	probably damaging	Het
Celsr3	T	A	9: 108,828,952 (GRCm38)	V878E	possibly damaging	Het
Cfap74	T	C	4: 155,418,664 (GRCm38)	S38P		Het
Chst2	C	T	9: 95,406,294 (GRCm38)		probably benign	Het
Deaf1	T	C	7: 141,324,165 (GRCm38)	T103A	probably damaging	Het
Deup1	T	A	9: 15,599,844 (GRCm38)	D213V	probably damaging	Het
Dhrs1	A	G	14: 55,741,181 (GRCm38)		probably null	Het
Dnah7a	A	G	1: 53,662,342 (GRCm38)	V218A	possibly damaging	Het
Dock7	G	A	4: 98,945,211 (GRCm38)	Q1950*	probably null	Het
Elovl3	A	T	19: 46,134,648 (GRCm38)	N221I	possibly damaging	Het
Gm11938	A	T	11: 99,603,140 (GRCm38)	V43E	probably damaging	Het
Gm12394	C	T	4: 42,792,546 (GRCm38)	G529S	probably benign	Het
Hmcn1	T	C	1: 150,755,044 (GRCm38)		probably benign	Het
Hnf4g	A	G	3: 3,643,036 (GRCm38)	N115S	probably benign	Het
Hnrnpr	A	T	4: 136,329,426 (GRCm38)	N246Y	probably damaging	Het
Itpka	A	G	2: 119,749,413 (GRCm38)	E211G	probably damaging	Het
Krt78	TAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA	TAGGCACGGTCACCTGGCCTCCACATTCTCCTCTAGGCACGGTCACCTGGCCTCCATATTCTCTCCCAGGCACGGTCACCTGGCCTCCAGATTCTCTTCCAGGCATGGTCACCTGGCCTCCATATTCTCTTCCAGGCACGGTCACCTGGCCTCCA	15: 101,946,776 (GRCm38)		probably benign	Het
Lcorl	A	T	5: 45,774,174 (GRCm38)		probably benign	Het
Mgat5	T	C	1: 127,479,571 (GRCm38)	I658T	probably damaging	Het
Mier2	G	A	10: 79,548,440 (GRCm38)	R166W	probably damaging	Het
Mov10	A	G	3: 104,800,016 (GRCm38)	Y606H	probably benign	Het
Naa38	T	G	11: 69,396,322 (GRCm38)	V76G	probably damaging	Het
Nelfe	C	A	17: 34,854,358 (GRCm38)	P290T	possibly damaging	Het
Nfil3	A	T	13: 52,967,573 (GRCm38)	Y432N	probably damaging	Het
Nipbl	T	C	15: 8,327,124 (GRCm38)	K1593E	probably damaging	Het
Nlrc3	G	C	16: 3,958,943 (GRCm38)	L56V	possibly damaging	Het
Nlrp1a	A	T	11: 71,123,909 (GRCm38)	F172I	possibly damaging	Het
Ntn4	T	A	10: 93,733,604 (GRCm38)		probably benign	Het
Nudt2	G	A	4: 41,480,288 (GRCm38)	R57Q	probably damaging	Het
Obsl1	A	C	1: 75,505,383 (GRCm38)	L281W	probably benign	Het
Olfm4	A	T	14: 80,018,167 (GRCm38)	N250I	unknown	Het
Olfr1375	G	A	11: 51,048,111 (GRCm38)	M1I	probably null	Het
Olfr165	T	A	16: 19,407,423 (GRCm38)	I198F	probably benign	Het
Olfr432	T	A	1: 174,050,847 (GRCm38)	V158E	probably damaging	Het
Olfr456	T	C	6: 42,486,969 (GRCm38)	S75G	probably damaging	Het
Olfr469	A	G	7: 107,823,421 (GRCm38)	I16T	possibly damaging	Het
Pappa	A	T	4: 65,156,189 (GRCm38)	T327S	probably damaging	Het
Pcdhb4	T	G	18: 37,307,661 (GRCm38)	M8R	probably benign	Het
Phf21b	T	A	15: 84,787,362 (GRCm38)	I444F	probably damaging	Het
Pkd1l2	A	C	8: 117,042,298 (GRCm38)	V1205G	probably benign	Het
Plec	T	C	15: 76,176,032 (GRCm38)	Y3235C	probably damaging	Het
Pnmt	C	T	11: 98,388,006 (GRCm38)	T266I	possibly damaging	Het
Ppfia2	T	A	10: 106,819,359 (GRCm38)	D262E	probably benign	Het
Rabggta	A	T	14: 55,718,456 (GRCm38)	L448Q	probably damaging	Het
Rap1gds1	C	T	3: 138,955,416 (GRCm38)	R449H	probably benign	Het
Rictor	T	A	15: 6,772,129 (GRCm38)		probably benign	Het
Rttn	T	C	18: 89,009,432 (GRCm38)	F557S	probably damaging	Het
Ryr3	A	G	2: 112,635,403 (GRCm38)	C4809R	probably damaging	Het
Sacs	A	C	14: 61,204,543 (GRCm38)	D1346A	probably benign	Het
Slain1	T	A	14: 103,685,755 (GRCm38)	S261T	probably damaging	Het
Slc22a4	C	T	11: 53,990,838 (GRCm38)	W351*	probably null	Het
Smpd3	C	T	8: 106,257,426 (GRCm38)	G554S	probably benign	Het
Spag17	C	T	3: 100,027,626 (GRCm38)	S716F	possibly damaging	Het
Spg11	C	T	2: 122,069,932 (GRCm38)	M1546I	probably benign	Het
Stac3	C	T	10: 127,503,585 (GRCm38)	L117F	probably damaging	Het
Surf6	A	G	2: 26,892,524 (GRCm38)	W264R	probably damaging	Het
Taar7e	T	C	10: 24,037,912 (GRCm38)	V100A	probably damaging	Het
Tenm3	T	C	8: 48,342,653 (GRCm38)	H534R	probably damaging	Het
Tinagl1	C	A	4: 130,174,030 (GRCm38)	R57L	probably damaging	Het
Tnfrsf11a	G	A	1: 105,827,129 (GRCm38)	A309T	possibly damaging	Het
Traf6	A	G	2: 101,696,988 (GRCm38)	Y361C	possibly damaging	Het
Ttn	A	T	2: 76,946,990 (GRCm38)		probably benign	Het
Ufl1	A	T	4: 25,254,778 (GRCm38)	Y559*	probably null	Het
Upk1b	A	T	16: 38,787,208 (GRCm38)	N52K	probably damaging	Het
Uqcrb	A	G	13: 66,905,299 (GRCm38)	S5P	probably benign	Het
Use1	A	G	8: 71,367,044 (GRCm38)	Y3C	unknown	Het
Usp9y	T	A	Y: 1,434,993 (GRCm38)	I279L	possibly damaging	Het
Vmn1r142	A	G	7: 22,163,371 (GRCm38)	L222P	probably damaging	Het
Vmn1r184	A	C	7: 26,267,752 (GRCm38)	N308H	probably benign	Het
Vmn2r14	C	A	5: 109,220,027 (GRCm38)	M366I	probably benign	Het
Vmn2r73	G	T	7: 85,872,696 (GRCm38)	S145Y	probably damaging	Het
Wdfy1	A	T	1: 79,714,980 (GRCm38)	W207R	probably damaging	Het
Zbtb38	A	T	9: 96,687,047 (GRCm38)	N661K	probably benign	Het
Zkscan3	G	T	13: 21,388,213 (GRCm38)	H416Q	possibly damaging	Het

Other mutations in Ehf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00731:Ehf	APN	2	103,266,840 (GRCm38)	splice site	probably null
IGL01296:Ehf	APN	2	103,268,155 (GRCm38)	splice site	probably null
IGL02095:Ehf	APN	2	103,266,991 (GRCm38)	missense	probably damaging	1.00
R0399:Ehf	UTSW	2	103,266,870 (GRCm38)	missense	probably damaging	1.00
R1116:Ehf	UTSW	2	103,267,009 (GRCm38)	missense	probably damaging	1.00
R1728:Ehf	UTSW	2	103,273,906 (GRCm38)	missense	possibly damaging	0.51
R1729:Ehf	UTSW	2	103,273,906 (GRCm38)	missense	possibly damaging	0.51
R2240:Ehf	UTSW	2	103,274,075 (GRCm38)	missense	probably benign
R2287:Ehf	UTSW	2	103,267,124 (GRCm38)	missense	possibly damaging	0.89
R2397:Ehf	UTSW	2	103,276,819 (GRCm38)	missense	probably damaging	0.99
R4094:Ehf	UTSW	2	103,290,750 (GRCm38)	intron	probably benign
R4687:Ehf	UTSW	2	103,267,126 (GRCm38)	missense	probably damaging	1.00
R4930:Ehf	UTSW	2	103,266,857 (GRCm38)	missense	probably damaging	1.00
R5695:Ehf	UTSW	2	103,266,779 (GRCm38)	missense	probably damaging	1.00
R5925:Ehf	UTSW	2	103,266,993 (GRCm38)	splice site	probably null
R6656:Ehf	UTSW	2	103,283,583 (GRCm38)	missense	probably damaging	1.00
R8217:Ehf	UTSW	2	103,279,631 (GRCm38)	missense	possibly damaging	0.94
Z1176:Ehf	UTSW	2	103,279,518 (GRCm38)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTTCTTCCCGTCAGAAGTAG -3'
(R):5'- CTGAAGTCAGAAGCTGTGGC -3'

Sequencing Primer
(F):5'- CCCGTCAGAAGTAGATTTTCTTTG -3'
(R):5'- AAATAACAGTAGCATGACATACGAG -3'

Posted On

2021-10-11