Incidental Mutation 'IGL03252:Elf3'
| ID |
414565 |
| 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 # |
IGL03252
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
135181312-135186210 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135182691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 345
(T345A)
|
| 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: T345A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003135
Gene: ENSMUSG00000003051
AA Change: T345A
| 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: T325A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139769
Gene: ENSMUSG00000003051
AA Change: T325A
| 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 |
|---|
| B4galnt2 |
A |
G |
11: 95,764,757 (GRCm39) |
S237P |
probably damaging |
Het |
| Btla |
A |
G |
16: 45,059,509 (GRCm39) |
H71R |
possibly damaging |
Het |
| Calml3 |
T |
A |
13: 3,853,759 (GRCm39) |
K149* |
probably null |
Het |
| Cyp2c29 |
T |
C |
19: 39,275,619 (GRCm39) |
W20R |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,892,894 (GRCm39) |
|
probably null |
Het |
| Erc2 |
T |
C |
14: 28,197,606 (GRCm39) |
|
probably benign |
Het |
| Gm10375 |
C |
T |
14: 43,842,289 (GRCm39) |
C147Y |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,539,916 (GRCm39) |
R13G |
probably damaging |
Het |
| H3c1 |
G |
A |
13: 23,945,943 (GRCm39) |
|
probably null |
Het |
| Ighg3 |
G |
T |
12: 113,324,184 (GRCm39) |
P101H |
unknown |
Het |
| L3mbtl3 |
A |
G |
10: 26,207,710 (GRCm39) |
|
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,702,481 (GRCm39) |
N254S |
probably benign |
Het |
| Myh4 |
A |
T |
11: 67,143,042 (GRCm39) |
D990V |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,962,745 (GRCm39) |
F394I |
probably damaging |
Het |
| Nek1 |
C |
T |
8: 61,525,364 (GRCm39) |
Q601* |
probably null |
Het |
| Or4k37 |
T |
A |
2: 111,159,125 (GRCm39) |
Y120* |
probably null |
Het |
| Or52n2c |
C |
T |
7: 104,574,594 (GRCm39) |
V126I |
probably benign |
Het |
| Plcb1 |
C |
T |
2: 135,212,348 (GRCm39) |
P980S |
probably benign |
Het |
| Puf60 |
T |
C |
15: 75,943,699 (GRCm39) |
D224G |
probably damaging |
Het |
| Pus7l |
T |
A |
15: 94,423,691 (GRCm39) |
H586L |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,315,748 (GRCm39) |
S585P |
probably benign |
Het |
| Rxfp1 |
T |
A |
3: 79,574,990 (GRCm39) |
D207V |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Sptlc2 |
A |
G |
12: 87,402,431 (GRCm39) |
I165T |
probably benign |
Het |
| Sult2a3 |
A |
G |
7: 13,801,559 (GRCm39) |
V260A |
probably damaging |
Het |
| Tas2r125 |
A |
G |
6: 132,887,553 (GRCm39) |
|
probably null |
Het |
| Tbx18 |
T |
A |
9: 87,587,633 (GRCm39) |
I495F |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,393,163 (GRCm38) |
N274I |
possibly damaging |
Het |
| Vmn2r53 |
T |
G |
7: 12,340,318 (GRCm39) |
T52P |
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 |
|
IGL02470:Elf3
|
APN |
1 |
135,182,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03018:Elf3
|
APN |
1 |
135,183,803 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
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 |
2016-08-02 |
Incidental Mutation