Incidental Mutation 'R2397:Ehf'
ID |
248541 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ehf
|
Ensembl Gene |
ENSMUSG00000012350 |
Gene Name |
ets homologous factor |
Synonyms |
9030625L19Rik |
MMRRC Submission |
040364-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.711)
|
Stock # |
R2397 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
103093776-103133620 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 103107164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 120
(D120V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090475]
[ENSMUST00000111174]
[ENSMUST00000111176]
[ENSMUST00000125788]
[ENSMUST00000151265]
[ENSMUST00000140503]
|
AlphaFold |
O70273 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090475
AA Change: D120V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000087961 Gene: ENSMUSG00000012350 AA Change: D120V
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: D120V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106805 Gene: ENSMUSG00000012350 AA Change: D120V
Domain | Start | End | E-Value | Type |
SAM_PNT
|
31 |
115 |
1.39e-35 |
SMART |
ETS
|
206 |
293 |
1.84e-52 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111176
AA Change: D120V
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000106807 Gene: ENSMUSG00000012350 AA Change: D120V
Domain | Start | End | E-Value | Type |
SAM_PNT
|
31 |
115 |
1.39e-35 |
SMART |
ETS
|
183 |
270 |
1.84e-52 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000125788
AA Change: D131V
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121103 Gene: ENSMUSG00000012350 AA Change: D131V
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: ENSMUST00000128546
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137774
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151265
AA Change: D120V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000118275 Gene: ENSMUSG00000012350 AA Change: D120V
Domain | Start | End | E-Value | Type |
SAM_PNT
|
31 |
115 |
1.39e-35 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000140503
AA Change: D159V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114979 Gene: ENSMUSG00000012350 AA Change: D159V
Domain | Start | End | E-Value | Type |
SAM_PNT
|
70 |
154 |
1.39e-35 |
SMART |
|
Meta Mutation Damage Score |
0.2751 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
98% (41/42) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
T |
A |
8: 56,325,933 (GRCm39) |
M174L |
probably benign |
Het |
Adamtsl1 |
C |
T |
4: 86,117,594 (GRCm39) |
R186W |
probably damaging |
Het |
Agtpbp1 |
C |
T |
13: 59,622,383 (GRCm39) |
V948I |
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,730,466 (GRCm39) |
T787A |
probably benign |
Het |
Capn11 |
T |
A |
17: 45,964,147 (GRCm39) |
N139I |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,146,244 (GRCm39) |
D60G |
possibly damaging |
Het |
Cers1 |
A |
T |
8: 70,774,186 (GRCm39) |
I148F |
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,201,835 (GRCm39) |
I41T |
unknown |
Het |
Cyp2d26 |
C |
T |
15: 82,678,236 (GRCm39) |
G47R |
probably damaging |
Het |
Dhx36 |
A |
T |
3: 62,405,518 (GRCm39) |
M205K |
probably benign |
Het |
Dyrk2 |
T |
A |
10: 118,697,273 (GRCm39) |
|
probably benign |
Het |
Echs1 |
T |
C |
7: 139,692,390 (GRCm39) |
H119R |
possibly damaging |
Het |
Esrra |
A |
G |
19: 6,897,544 (GRCm39) |
L71P |
probably damaging |
Het |
Fam228a |
A |
T |
12: 4,768,718 (GRCm39) |
S200R |
probably benign |
Het |
Fibcd1 |
A |
T |
2: 31,724,435 (GRCm39) |
M191K |
probably benign |
Het |
Foxn4 |
A |
G |
5: 114,393,556 (GRCm39) |
L521P |
probably damaging |
Het |
Fscn2 |
T |
C |
11: 120,252,995 (GRCm39) |
L154P |
probably damaging |
Het |
Gm7964 |
T |
G |
7: 83,406,321 (GRCm39) |
|
noncoding transcript |
Het |
Golga3 |
T |
C |
5: 110,353,743 (GRCm39) |
|
probably benign |
Het |
Gria4 |
A |
G |
9: 4,537,717 (GRCm39) |
L197P |
probably damaging |
Het |
Heg1 |
T |
A |
16: 33,562,849 (GRCm39) |
M913K |
probably damaging |
Het |
Ifi205 |
T |
C |
1: 173,845,141 (GRCm39) |
T214A |
possibly damaging |
Het |
Ift140 |
T |
G |
17: 25,239,710 (GRCm39) |
D122E |
probably damaging |
Het |
Jakmip1 |
T |
A |
5: 37,258,087 (GRCm39) |
D244E |
probably damaging |
Het |
Krt84 |
A |
G |
15: 101,438,689 (GRCm39) |
V266A |
probably benign |
Het |
Mc2r |
T |
A |
18: 68,541,224 (GRCm39) |
D23V |
probably benign |
Het |
Ncr1 |
T |
A |
7: 4,341,260 (GRCm39) |
F47I |
probably benign |
Het |
Nr1h3 |
G |
A |
2: 91,022,202 (GRCm39) |
T142I |
possibly damaging |
Het |
Obox2 |
C |
T |
7: 15,130,971 (GRCm39) |
P68S |
probably benign |
Het |
Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
Parn |
A |
G |
16: 13,384,518 (GRCm39) |
V515A |
probably benign |
Het |
Ptdss2 |
T |
A |
7: 140,727,005 (GRCm39) |
F105I |
probably benign |
Het |
Ruvbl1 |
A |
C |
6: 88,442,534 (GRCm39) |
T9P |
possibly damaging |
Het |
Slc15a3 |
A |
G |
19: 10,820,407 (GRCm39) |
E8G |
probably benign |
Het |
Slf1 |
G |
T |
13: 77,251,702 (GRCm39) |
Y303* |
probably null |
Het |
Socs5 |
T |
C |
17: 87,442,377 (GRCm39) |
F439S |
probably damaging |
Het |
Tcp10c |
C |
A |
17: 13,590,473 (GRCm39) |
A357E |
probably damaging |
Het |
Tmem200c |
T |
C |
17: 69,147,942 (GRCm39) |
V175A |
probably damaging |
Het |
Vmn2r124 |
T |
A |
17: 18,269,859 (GRCm39) |
H38Q |
possibly damaging |
Het |
Vmn2r54 |
T |
G |
7: 12,349,578 (GRCm39) |
Q668P |
probably damaging |
Het |
Xrcc2 |
T |
C |
5: 25,910,708 (GRCm39) |
S3G |
probably null |
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 |
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'- CACTAGACTGAATTGGTGGTCC -3'
(R):5'- AGAGATGGTCCCAGGCTTTG -3'
Sequencing Primer
(F):5'- TGGTGGTCCCAAGGTCAAG -3'
(R):5'- TTTGATGTGCCGAGACTCACCAG -3'
|
Posted On |
2014-11-11 |