Incidental Mutation 'R5706:Elf3'
ID |
451954 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elf3
|
Ensembl Gene |
ENSMUSG00000003051 |
Gene Name |
E74-like factor 3 |
Synonyms |
ESE-1, jen, ESX |
MMRRC Submission |
043331-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.900)
|
Stock # |
R5706 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
135181312-135186210 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 135184220 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 196
(V196A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003135]
[ENSMUST00000185752]
|
AlphaFold |
Q3UPW2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003135
AA Change: V216A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000003135 Gene: ENSMUSG00000003051 AA Change: V216A
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 benign
Transcript: ENSMUST00000185752
AA Change: V196A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000139769 Gene: ENSMUSG00000003051 AA Change: V196A
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,847,910 (GRCm39) |
M77K |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,349,769 (GRCm39) |
V467A |
probably damaging |
Het |
Atf4 |
T |
C |
15: 80,140,531 (GRCm39) |
V11A |
possibly damaging |
Het |
B4galt1 |
T |
C |
4: 40,807,268 (GRCm39) |
N373D |
probably damaging |
Het |
Bpifa3 |
A |
G |
2: 153,977,498 (GRCm39) |
K112R |
probably damaging |
Het |
Chd2 |
T |
A |
7: 73,141,105 (GRCm39) |
Y596F |
possibly damaging |
Het |
Clspn |
T |
C |
4: 126,472,211 (GRCm39) |
S962P |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,722,762 (GRCm39) |
D262G |
possibly damaging |
Het |
Dcaf11 |
T |
C |
14: 55,803,152 (GRCm39) |
I282T |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,090,462 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
G |
12: 117,987,670 (GRCm39) |
K2411Q |
probably damaging |
Het |
Fhad1 |
T |
G |
4: 141,681,427 (GRCm39) |
T538P |
probably damaging |
Het |
Fkbp10 |
A |
G |
11: 100,311,849 (GRCm39) |
D174G |
probably damaging |
Het |
Gas6 |
A |
G |
8: 13,527,098 (GRCm39) |
S217P |
probably damaging |
Het |
Heatr5b |
C |
T |
17: 79,074,304 (GRCm39) |
|
probably null |
Het |
Iqgap3 |
A |
G |
3: 88,023,215 (GRCm39) |
E502G |
probably benign |
Het |
Klc1 |
T |
C |
12: 111,762,061 (GRCm39) |
V577A |
possibly damaging |
Het |
Lck |
T |
C |
4: 129,445,431 (GRCm39) |
|
probably null |
Het |
Mc3r |
C |
A |
2: 172,091,610 (GRCm39) |
Y277* |
probably null |
Het |
Mlxipl |
T |
C |
5: 135,162,458 (GRCm39) |
V640A |
probably benign |
Het |
Mrc2 |
A |
T |
11: 105,223,169 (GRCm39) |
N471Y |
probably damaging |
Het |
Ncan |
T |
A |
8: 70,554,667 (GRCm39) |
H1050L |
probably damaging |
Het |
Nrl |
C |
A |
14: 55,759,889 (GRCm39) |
V13F |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,967,082 (GRCm39) |
Y546F |
probably damaging |
Het |
Or52u1 |
T |
G |
7: 104,237,097 (GRCm39) |
S46A |
probably benign |
Het |
Or6c209 |
A |
G |
10: 129,483,960 (GRCm39) |
|
probably null |
Het |
Or6d14 |
A |
G |
6: 116,534,074 (GRCm39) |
I229M |
probably damaging |
Het |
Pde3b |
G |
A |
7: 114,120,927 (GRCm39) |
G684D |
probably damaging |
Het |
Prkaa1 |
C |
T |
15: 5,203,823 (GRCm39) |
T244I |
probably benign |
Het |
Scfd2 |
A |
T |
5: 74,367,059 (GRCm39) |
|
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Smg1 |
A |
T |
7: 117,744,813 (GRCm39) |
V3113D |
possibly damaging |
Het |
Sorbs1 |
T |
C |
19: 40,365,325 (GRCm39) |
T153A |
probably benign |
Het |
Spag16 |
A |
G |
1: 69,909,448 (GRCm39) |
T182A |
probably benign |
Het |
Spopfm1 |
T |
A |
3: 94,173,959 (GRCm39) |
H322Q |
possibly damaging |
Het |
Svs5 |
T |
C |
2: 164,079,589 (GRCm39) |
K106R |
possibly damaging |
Het |
Tenm1 |
A |
G |
X: 42,163,572 (GRCm39) |
V107A |
possibly damaging |
Het |
Topaz1 |
A |
T |
9: 122,628,550 (GRCm39) |
I1546F |
possibly damaging |
Het |
Tubgcp2 |
C |
A |
7: 139,612,138 (GRCm39) |
E78* |
probably null |
Het |
Vars1 |
A |
G |
17: 35,224,457 (GRCm39) |
|
probably null |
Het |
Vmn2r109 |
A |
T |
17: 20,774,567 (GRCm39) |
W263R |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTCCACCGGAGTCAGAAG -3'
(R):5'- CATAGTCATTTCTGTGGTCCCTGG -3'
Sequencing Primer
(F):5'- TCAGAAGCATGGGAACTCTG -3'
(R):5'- CTGGAGGGTCGTGCCTGTC -3'
|
Posted On |
2017-01-03 |