Incidental Mutation 'IGL02470:Elf3'
ID |
294698 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Elf3
|
Ensembl Gene |
ENSMUSG00000003051 |
Gene Name |
E74-like factor 3 |
Synonyms |
ESE-1, jen, ESX |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.900)
|
Stock # |
IGL02470
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
135181312-135186210 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 135182750 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 325
(F325Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003135]
[ENSMUST00000185752]
|
AlphaFold |
Q3UPW2 |
PDB Structure |
Crystal structure of mouse Elf3 C-terminal DNA-binding domain in complex with type II TGF-beta receptor promoter DNA [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000003135
AA Change: F325Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000003135 Gene: ENSMUSG00000003051 AA Change: F325Y
Domain | Start | End | E-Value | Type |
SAM_PNT
|
67 |
151 |
6.32e-30 |
SMART |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
AT_hook
|
264 |
276 |
1.29e0 |
SMART |
ETS
|
292 |
379 |
6.11e-49 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180981
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000185752
AA Change: F305Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139769 Gene: ENSMUSG00000003051 AA Change: F305Y
Domain | Start | End | E-Value | Type |
SAM_PNT
|
47 |
131 |
1.36e-29 |
SMART |
low complexity region
|
210 |
221 |
N/A |
INTRINSIC |
AT_hook
|
244 |
256 |
1.29e0 |
SMART |
ETS
|
272 |
359 |
6.11e-49 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188895
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: About one third of mice homozygous for a reporter allele die at E11.5; over half of those born develop a wasted phenotype, lethargy and watery diarrhea and die during the first few weeks of life exhibiting dysmorphogenesis and altered differentiation of small intestinal epithelium. [provided by MGI curators]
|
Allele List at MGI |
All alleles(3) : Targeted(3)
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
A |
G |
1: 165,395,295 (GRCm39) |
Y1422C |
probably damaging |
Het |
Adnp |
T |
A |
2: 168,025,114 (GRCm39) |
K727I |
probably damaging |
Het |
Akr1c21 |
A |
T |
13: 4,627,406 (GRCm39) |
N167Y |
probably damaging |
Het |
Arl4a |
T |
C |
12: 40,086,747 (GRCm39) |
|
probably benign |
Het |
BB014433 |
A |
T |
8: 15,092,803 (GRCm39) |
F17I |
unknown |
Het |
Best1 |
T |
C |
19: 9,970,340 (GRCm39) |
S91G |
probably benign |
Het |
Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dcc |
A |
T |
18: 72,088,153 (GRCm39) |
|
probably benign |
Het |
Dnajc13 |
G |
A |
9: 104,052,946 (GRCm39) |
T1672I |
probably benign |
Het |
Enpp2 |
A |
G |
15: 54,702,856 (GRCm39) |
L880P |
probably damaging |
Het |
Fndc3b |
A |
G |
3: 27,515,869 (GRCm39) |
Y646H |
probably damaging |
Het |
Fzd6 |
A |
T |
15: 38,899,952 (GRCm39) |
|
probably benign |
Het |
Gnb1 |
T |
A |
4: 155,611,970 (GRCm39) |
|
probably benign |
Het |
Mast1 |
C |
A |
8: 85,647,841 (GRCm39) |
G511V |
probably damaging |
Het |
Mcmbp |
T |
C |
7: 128,306,345 (GRCm39) |
I424M |
possibly damaging |
Het |
Mobp |
A |
G |
9: 119,997,072 (GRCm39) |
T68A |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,035,910 (GRCm39) |
E1006G |
probably damaging |
Het |
Ncstn |
A |
G |
1: 171,910,166 (GRCm39) |
|
probably null |
Het |
Or1j12 |
A |
G |
2: 36,342,609 (GRCm39) |
D4G |
probably benign |
Het |
Or8k39 |
A |
T |
2: 86,563,929 (GRCm39) |
V9E |
probably damaging |
Het |
Phip |
A |
T |
9: 82,772,507 (GRCm39) |
V1075D |
possibly damaging |
Het |
Sanbr |
A |
T |
11: 23,565,222 (GRCm39) |
M255K |
probably damaging |
Het |
Serpinb1a |
C |
T |
13: 33,034,376 (GRCm39) |
S5N |
probably damaging |
Het |
Slc15a3 |
A |
G |
19: 10,830,534 (GRCm39) |
N295S |
probably benign |
Het |
Trmt13 |
A |
C |
3: 116,383,877 (GRCm39) |
|
probably null |
Het |
Trp63 |
A |
C |
16: 25,639,134 (GRCm39) |
|
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
Other mutations in Elf3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02141:Elf3
|
APN |
1 |
135,185,445 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03018:Elf3
|
APN |
1 |
135,183,803 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL03252:Elf3
|
APN |
1 |
135,182,691 (GRCm39) |
missense |
probably damaging |
1.00 |
P0026:Elf3
|
UTSW |
1 |
135,183,711 (GRCm39) |
critical splice donor site |
probably null |
|
R0087:Elf3
|
UTSW |
1 |
135,184,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R1842:Elf3
|
UTSW |
1 |
135,184,531 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1897:Elf3
|
UTSW |
1 |
135,184,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R2081:Elf3
|
UTSW |
1 |
135,184,814 (GRCm39) |
missense |
probably benign |
0.12 |
R4049:Elf3
|
UTSW |
1 |
135,182,015 (GRCm39) |
missense |
probably benign |
0.21 |
R4467:Elf3
|
UTSW |
1 |
135,184,582 (GRCm39) |
missense |
probably damaging |
1.00 |
R4630:Elf3
|
UTSW |
1 |
135,184,478 (GRCm39) |
intron |
probably benign |
|
R4715:Elf3
|
UTSW |
1 |
135,185,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R4923:Elf3
|
UTSW |
1 |
135,184,473 (GRCm39) |
intron |
probably benign |
|
R5226:Elf3
|
UTSW |
1 |
135,184,977 (GRCm39) |
missense |
probably benign |
0.07 |
R5422:Elf3
|
UTSW |
1 |
135,182,778 (GRCm39) |
missense |
probably damaging |
0.98 |
R5706:Elf3
|
UTSW |
1 |
135,184,220 (GRCm39) |
missense |
probably benign |
0.01 |
R7115:Elf3
|
UTSW |
1 |
135,184,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R7644:Elf3
|
UTSW |
1 |
135,184,244 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7855:Elf3
|
UTSW |
1 |
135,182,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7940:Elf3
|
UTSW |
1 |
135,184,866 (GRCm39) |
missense |
probably damaging |
1.00 |
R8315:Elf3
|
UTSW |
1 |
135,184,314 (GRCm39) |
missense |
probably benign |
0.00 |
R8723:Elf3
|
UTSW |
1 |
135,185,385 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8724:Elf3
|
UTSW |
1 |
135,182,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R8906:Elf3
|
UTSW |
1 |
135,182,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R8960:Elf3
|
UTSW |
1 |
135,182,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |