Incidental Mutation 'R5925:Ehf'
| ID |
461773 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehf
|
| Ensembl Gene |
ENSMUSG00000012350 |
| Gene Name |
ets homologous factor |
| Synonyms |
9030625L19Rik |
| MMRRC Submission |
044120-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.711)
|
| Stock # |
R5925 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
103093776-103133620 bp(-) (GRCm39) |
| Type of Mutation |
splice site (83 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 103097338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090475]
[ENSMUST00000090475]
[ENSMUST00000111174]
[ENSMUST00000111174]
[ENSMUST00000111176]
[ENSMUST00000111176]
[ENSMUST00000125788]
|
| AlphaFold |
O70273 |
| Predicted Effect |
silent
Transcript: ENSMUST00000090475
|
| SMART Domains |
Protein: ENSMUSP00000087961
Gene: ENSMUSG00000012350
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
31 |
115 |
1.39e-35 |
SMART |
|
ETS
|
206 |
293 |
1.84e-52 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000090475
|
| SMART Domains |
Protein: ENSMUSP00000087961
Gene: ENSMUSG00000012350
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
31 |
115 |
1.39e-35 |
SMART |
|
ETS
|
206 |
293 |
1.84e-52 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000111174
|
| SMART Domains |
Protein: ENSMUSP00000106805
Gene: ENSMUSG00000012350
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
31 |
115 |
1.39e-35 |
SMART |
|
ETS
|
206 |
293 |
1.84e-52 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000111174
|
| SMART Domains |
Protein: ENSMUSP00000106805
Gene: ENSMUSG00000012350
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
31 |
115 |
1.39e-35 |
SMART |
|
ETS
|
206 |
293 |
1.84e-52 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000111176
|
| SMART Domains |
Protein: ENSMUSP00000106807
Gene: ENSMUSG00000012350
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
31 |
115 |
1.39e-35 |
SMART |
|
ETS
|
183 |
270 |
1.84e-52 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000111176
|
| SMART Domains |
Protein: ENSMUSP00000106807
Gene: ENSMUSG00000012350
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
31 |
115 |
1.39e-35 |
SMART |
|
ETS
|
183 |
270 |
1.84e-52 |
SMART |
|
| Predicted Effect |
probably null
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
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.8%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130230L23Rik |
C |
T |
5: 66,147,735 (GRCm39) |
W16* |
probably null |
Het |
| Abca8a |
T |
C |
11: 109,948,049 (GRCm39) |
D985G |
probably damaging |
Het |
| Afp |
T |
A |
5: 90,645,147 (GRCm39) |
C188S |
probably damaging |
Het |
| Ank2 |
A |
C |
3: 126,726,612 (GRCm39) |
L894R |
probably benign |
Het |
| Antxr1 |
A |
G |
6: 87,289,344 (GRCm39) |
I60T |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,175,064 (GRCm39) |
V1733A |
probably benign |
Het |
| Ccdc187 |
A |
G |
2: 26,183,593 (GRCm39) |
S136P |
probably benign |
Het |
| Cep95 |
T |
C |
11: 106,703,227 (GRCm39) |
S393P |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,098,263 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Diaph1 |
A |
G |
18: 38,024,988 (GRCm39) |
V491A |
unknown |
Het |
| Dync2i1 |
A |
T |
12: 116,197,014 (GRCm39) |
F448I |
possibly damaging |
Het |
| Eif2b5 |
C |
T |
16: 20,326,874 (GRCm39) |
H99Y |
probably benign |
Het |
| Exosc10 |
C |
A |
4: 148,657,819 (GRCm39) |
T655K |
probably benign |
Het |
| Flg |
A |
T |
3: 93,186,706 (GRCm39) |
I53F |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,920,462 (GRCm39) |
D628V |
possibly damaging |
Het |
| Lmo4 |
A |
T |
3: 143,900,252 (GRCm39) |
N83K |
probably benign |
Het |
| Lrp4 |
A |
T |
2: 91,342,029 (GRCm39) |
T1881S |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,564,439 (GRCm39) |
L66Q |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,040,376 (GRCm39) |
S314P |
probably benign |
Het |
| Mpzl3 |
G |
T |
9: 44,973,412 (GRCm39) |
K50N |
probably damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,948 (GRCm39) |
Q1992K |
probably benign |
Het |
| Nlrp14 |
T |
A |
7: 106,785,860 (GRCm39) |
N645K |
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,106,482 (GRCm39) |
I49T |
probably benign |
Het |
| Or6c76b |
A |
G |
10: 129,692,744 (GRCm39) |
D119G |
probably damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,063,724 (GRCm39) |
D129E |
probably damaging |
Het |
| Prb1a |
A |
G |
6: 132,187,475 (GRCm39) |
L2P |
unknown |
Het |
| Rhbdf1 |
A |
G |
11: 32,162,906 (GRCm39) |
Y454H |
probably benign |
Het |
| Satb2 |
C |
T |
1: 56,836,097 (GRCm39) |
A565T |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,051 (GRCm39) |
L889Q |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,713 (GRCm39) |
|
probably null |
Het |
| Slc35e2 |
T |
C |
4: 155,696,084 (GRCm39) |
V157A |
probably damaging |
Het |
| Slc35f3 |
T |
C |
8: 127,115,946 (GRCm39) |
V291A |
probably benign |
Het |
| Snph |
T |
C |
2: 151,436,151 (GRCm39) |
D190G |
probably damaging |
Het |
| Tpd52l1 |
T |
C |
10: 31,208,943 (GRCm39) |
H170R |
probably benign |
Het |
| Trav18 |
A |
G |
14: 54,069,152 (GRCm39) |
T65A |
probably benign |
Het |
| Trip12 |
G |
A |
1: 84,726,974 (GRCm39) |
Q9* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,632,592 (GRCm39) |
C12408Y |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,639,355 (GRCm39) |
D13806G |
probably damaging |
Het |
| Unc79 |
G |
C |
12: 103,091,989 (GRCm39) |
|
probably null |
Het |
| Vmn2r81 |
T |
C |
10: 79,083,637 (GRCm39) |
S4P |
probably damaging |
Het |
| Zfp37 |
G |
A |
4: 62,109,450 (GRCm39) |
T576I |
possibly damaging |
Het |
| Zfp39 |
A |
T |
11: 58,782,099 (GRCm39) |
L221Q |
possibly damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,366,853 (GRCm39) |
H744R |
possibly 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 |
|
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 |
|
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'- TATAGACCAGCCGTCGTCCATC -3'
(R):5'- AGGCTGTCACTCCACATTCG -3'
Sequencing Primer
(F):5'- GTCCATCCACACGTTCCAGG -3'
(R):5'- GCACCCTTGCTAAGCCATTGTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation