Incidental Mutation 'R7115:Elf3'
| ID |
551713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elf3
|
| Ensembl Gene |
ENSMUSG00000003051 |
| Gene Name |
E74-like factor 3 |
| Synonyms |
ESE-1, jen, ESX |
| MMRRC Submission |
045206-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.900)
|
| Stock # |
R7115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
135181312-135186210 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 135184856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 110
(D110A)
|
| 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: D110A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000003135
Gene: ENSMUSG00000003051
AA Change: D110A
| 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 |
probably damaging
Transcript: ENSMUST00000185752
AA Change: D90A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139769
Gene: ENSMUSG00000003051
AA Change: D90A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,255,589 (GRCm39) |
I636N |
probably benign |
Het |
| Adam5 |
A |
G |
8: 25,271,712 (GRCm39) |
I565T |
possibly damaging |
Het |
| Amd2 |
C |
A |
10: 35,587,633 (GRCm39) |
|
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,323,727 (GRCm39) |
Y472* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 63,070,024 (GRCm39) |
F97S |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,208,446 (GRCm39) |
K267R |
|
Het |
| Carf |
G |
T |
1: 60,187,309 (GRCm39) |
L637F |
probably damaging |
Het |
| Ccdc103 |
A |
T |
11: 102,774,636 (GRCm39) |
S95C |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 96,147,874 (GRCm39) |
I156V |
probably benign |
Het |
| Csn1s2a |
T |
C |
5: 87,929,664 (GRCm39) |
C96R |
probably benign |
Het |
| Cspg4b |
T |
G |
13: 113,457,310 (GRCm39) |
S1119A |
|
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
| Dennd2a |
G |
A |
6: 39,483,645 (GRCm39) |
T405M |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,493,961 (GRCm39) |
Y1248H |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,547,710 (GRCm39) |
K2504N |
probably damaging |
Het |
| Dnajb2 |
G |
A |
1: 75,220,306 (GRCm39) |
G275D |
|
Het |
| Eomes |
A |
G |
9: 118,313,557 (GRCm39) |
N534S |
probably benign |
Het |
| Fry |
A |
T |
5: 150,309,532 (GRCm39) |
R659W |
probably damaging |
Het |
| Gm10428 |
G |
A |
11: 62,644,206 (GRCm39) |
C94Y |
unknown |
Het |
| Gm2696 |
T |
A |
10: 77,672,133 (GRCm39) |
C111S |
unknown |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,888,247 (GRCm39) |
N2338Y |
|
Het |
| Map2k1 |
A |
G |
9: 64,119,888 (GRCm39) |
I139T |
probably damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,598,003 (GRCm39) |
Y79C |
probably benign |
Het |
| Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
| Pxylp1 |
G |
A |
9: 96,707,063 (GRCm39) |
T373I |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,560,147 (GRCm39) |
N484S |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,108,986 (GRCm39) |
V293A |
probably benign |
Het |
| Ring1 |
A |
G |
17: 34,242,420 (GRCm39) |
I29T |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,154,962 (GRCm39) |
Q666* |
probably null |
Het |
| Spice1 |
G |
A |
16: 44,199,638 (GRCm39) |
G697R |
probably benign |
Het |
| Tas2r131 |
A |
G |
6: 132,934,567 (GRCm39) |
F81L |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 36,054,644 (GRCm39) |
S572L |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,569,977 (GRCm39) |
T128A |
probably benign |
Het |
| Trim56 |
T |
A |
5: 137,142,514 (GRCm39) |
Q334L |
probably damaging |
Het |
| Vmn2r44 |
T |
A |
7: 8,370,527 (GRCm39) |
R840* |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCGTCACTGACCATGGTTC -3'
(R):5'- GTTGTGTAGGACCTCAGACAAG -3'
Sequencing Primer
(F):5'- ACTGACCATGGTTCCGGCAG -3'
(R):5'- GTGTAGGACCTCAGACAAGATCCC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation