Incidental Mutation 'R6656:Ehf'
| ID |
526612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehf
|
| Ensembl Gene |
ENSMUSG00000012350 |
| Gene Name |
ets homologous factor |
| Synonyms |
9030625L19Rik |
| MMRRC Submission |
044777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.767)
|
| Stock # |
R6656 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
103093776-103133620 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103113928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 23
(N23S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090475]
[ENSMUST00000111174]
[ENSMUST00000111176]
[ENSMUST00000125788]
[ENSMUST00000140503]
[ENSMUST00000151265]
|
| AlphaFold |
O70273 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090475
AA Change: N12S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087961
Gene: ENSMUSG00000012350
AA Change: N12S
| 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: N12S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106805
Gene: ENSMUSG00000012350
AA Change: N12S
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
31 |
115 |
1.39e-35 |
SMART |
|
ETS
|
206 |
293 |
1.84e-52 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111176
AA Change: N12S
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106807
Gene: ENSMUSG00000012350
AA Change: N12S
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
31 |
115 |
1.39e-35 |
SMART |
|
ETS
|
183 |
270 |
1.84e-52 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125788
AA Change: N23S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121103
Gene: ENSMUSG00000012350
AA Change: N23S
| 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 |
possibly damaging
Transcript: ENSMUST00000140503
AA Change: N51S
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114979
Gene: ENSMUSG00000012350
AA Change: N51S
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
70 |
154 |
1.39e-35 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151265
AA Change: N12S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118275
Gene: ENSMUSG00000012350
AA Change: N12S
| Domain | Start | End | E-Value | Type |
|---|
|
SAM_PNT
|
31 |
115 |
1.39e-35 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.8%
|
| Validation Efficiency |
97% (35/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
T |
C |
1: 179,581,078 (GRCm39) |
N1708S |
probably benign |
Het |
| Ahnak2 |
C |
T |
12: 112,748,991 (GRCm39) |
M285I |
probably benign |
Het |
| Angptl1 |
A |
T |
1: 156,684,806 (GRCm39) |
D325V |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,262,298 (GRCm39) |
V931E |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,526,021 (GRCm39) |
R578* |
probably null |
Het |
| B3galnt2 |
C |
T |
13: 14,150,161 (GRCm39) |
A168V |
probably benign |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cd22 |
T |
C |
7: 30,577,182 (GRCm39) |
I42V |
probably benign |
Het |
| Cyp2b19 |
C |
T |
7: 26,466,280 (GRCm39) |
T361I |
probably benign |
Het |
| D930048N14Rik |
C |
A |
11: 51,544,576 (GRCm39) |
|
probably benign |
Het |
| Eif2ak3 |
T |
A |
6: 70,860,699 (GRCm39) |
I425N |
probably damaging |
Het |
| Fbxo4 |
C |
T |
15: 4,005,305 (GRCm39) |
V192M |
probably damaging |
Het |
| Gm21190 |
T |
C |
5: 15,730,849 (GRCm39) |
Q169R |
possibly damaging |
Het |
| Gngt1 |
A |
G |
6: 3,994,246 (GRCm39) |
D8G |
possibly damaging |
Het |
| Ift140 |
T |
C |
17: 25,251,147 (GRCm39) |
L31P |
probably damaging |
Het |
| Keg1 |
C |
T |
19: 12,686,994 (GRCm39) |
Q8* |
probably null |
Het |
| Lama3 |
T |
A |
18: 12,682,283 (GRCm39) |
M1083K |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 40,527,876 (GRCm39) |
Y68* |
probably null |
Het |
| Lyz3 |
A |
G |
10: 117,071,534 (GRCm39) |
V115A |
probably benign |
Het |
| Mctp1 |
A |
T |
13: 77,178,055 (GRCm39) |
K947N |
probably damaging |
Het |
| Muc5ac |
A |
G |
7: 141,357,065 (GRCm39) |
Y1113C |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,028,844 (GRCm39) |
V85M |
probably damaging |
Het |
| Npas2 |
T |
G |
1: 39,401,029 (GRCm39) |
S798A |
unknown |
Het |
| Or13a21 |
G |
T |
7: 139,999,517 (GRCm39) |
H56Q |
probably damaging |
Het |
| Orc2 |
A |
G |
1: 58,532,818 (GRCm39) |
|
probably null |
Het |
| Parpbp |
T |
C |
10: 87,946,175 (GRCm39) |
T415A |
probably benign |
Het |
| Pcdha3 |
T |
C |
18: 37,080,875 (GRCm39) |
V539A |
probably benign |
Het |
| Piwil4 |
T |
C |
9: 14,621,230 (GRCm39) |
E601G |
probably damaging |
Het |
| Pramel51 |
A |
T |
12: 88,142,763 (GRCm39) |
L285Q |
possibly damaging |
Het |
| Ptpn3 |
T |
A |
4: 57,205,905 (GRCm39) |
I696F |
probably damaging |
Het |
| Sec63 |
C |
T |
10: 42,692,379 (GRCm39) |
Q617* |
probably null |
Het |
| Sgip1 |
C |
A |
4: 102,762,765 (GRCm39) |
|
probably benign |
Het |
| Sirpd |
T |
C |
3: 15,385,558 (GRCm39) |
T115A |
probably damaging |
Het |
| Tktl2 |
T |
C |
8: 66,965,381 (GRCm39) |
V313A |
probably benign |
Het |
| Tmem63b |
C |
A |
17: 45,978,634 (GRCm39) |
R325L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,539,700 (GRCm39) |
G34429R |
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 |
|
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 |
|
|
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'- TGATTAGGCAAGACATTGGGTTC -3'
(R):5'- CTGAAAGGGCTGTGGCAATG -3'
Sequencing Primer
(F):5'- TTGGGTTCAATGATCAGGAGAC -3'
(R):5'- CTGTGGCAATGGGTGGAAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation