Incidental Mutation 'R4467:Elf3'
| ID |
329213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elf3
|
| Ensembl Gene |
ENSMUSG00000003051 |
| Gene Name |
E74-like factor 3 |
| Synonyms |
ESX, jen, ESE-1 |
| MMRRC Submission |
041724-MU
|
| Accession Numbers |
Ncbi RefSeq: NM_001163131.1, NM_007921.3; MGI:1101781
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R4467 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
135253575-135258568 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135256844 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 138
(I138T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003135]
[ENSMUST00000185752]
|
| AlphaFold |
Q3UPW2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003135
AA Change: I158T
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000003135
Gene: ENSMUSG00000003051
AA Change: I158T
| 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: I138T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139769
Gene: ENSMUSG00000003051
AA Change: I138T
| 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
|
| Meta Mutation Damage Score |
0.1131 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
Strain: 2662485
Lethality: D11-D21
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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 63,898,839 (GRCm38) |
|
probably benign |
Het |
| 4930402H24Rik |
A |
G |
2: 130,767,647 (GRCm38) |
I372T |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,645,855 (GRCm38) |
Y57H |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 25,769,488 (GRCm38) |
A228T |
probably benign |
Het |
| Bms1 |
G |
A |
6: 118,383,847 (GRCm38) |
T1220I |
probably damaging |
Het |
| Brat1 |
T |
C |
5: 140,705,071 (GRCm38) |
|
probably benign |
Het |
| Casc1 |
A |
T |
6: 145,183,218 (GRCm38) |
|
probably null |
Het |
| Cds2 |
T |
A |
2: 132,294,446 (GRCm38) |
Y39* |
probably null |
Het |
| Chrnd |
T |
A |
1: 87,197,377 (GRCm38) |
L384Q |
probably damaging |
Het |
| Cpa3 |
A |
T |
3: 20,228,817 (GRCm38) |
Y155* |
probably null |
Het |
| Crlf1 |
G |
A |
8: 70,500,956 (GRCm38) |
W260* |
probably null |
Het |
| Cux1 |
C |
G |
5: 136,312,722 (GRCm38) |
E605D |
probably damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm38) |
T331R |
unknown |
Het |
| Dmtf1 |
T |
C |
5: 9,136,085 (GRCm38) |
N167S |
probably damaging |
Het |
| Dtx2 |
T |
A |
5: 136,012,076 (GRCm38) |
W112R |
probably damaging |
Het |
| F11 |
T |
A |
8: 45,241,474 (GRCm38) |
I617F |
probably damaging |
Het |
| Fdps |
A |
T |
3: 89,100,786 (GRCm38) |
D8E |
possibly damaging |
Het |
| Fzd10 |
C |
A |
5: 128,601,276 (GRCm38) |
T20K |
probably benign |
Het |
| Gm9978 |
T |
A |
10: 78,486,916 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr158 |
T |
A |
2: 21,826,999 (GRCm38) |
M970K |
probably damaging |
Het |
| Has1 |
C |
T |
17: 17,843,995 (GRCm38) |
V461M |
probably benign |
Het |
| Hdac3 |
C |
T |
18: 37,952,513 (GRCm38) |
G80D |
probably benign |
Het |
| Klk12 |
A |
T |
7: 43,773,383 (GRCm38) |
R245W |
probably damaging |
Het |
| Lamp5 |
A |
G |
2: 136,059,020 (GRCm38) |
I47V |
probably damaging |
Het |
| Olfr786 |
T |
C |
10: 129,437,064 (GRCm38) |
I84T |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,977,711 (GRCm38) |
D122G |
probably benign |
Het |
| Piezo1 |
T |
C |
8: 122,486,396 (GRCm38) |
E1875G |
probably benign |
Het |
| Pih1d1 |
A |
G |
7: 45,158,497 (GRCm38) |
M132V |
possibly damaging |
Het |
| Pon2 |
C |
T |
6: 5,267,021 (GRCm38) |
A241T |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,619,911 (GRCm38) |
I538V |
possibly damaging |
Het |
| Rab36 |
C |
T |
10: 75,052,043 (GRCm38) |
R249* |
probably null |
Het |
| Rps6kl1 |
C |
T |
12: 85,147,808 (GRCm38) |
A110T |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,544,530 (GRCm38) |
T244A |
probably benign |
Het |
| Slc22a7 |
T |
C |
17: 46,432,510 (GRCm38) |
I532V |
probably benign |
Het |
| Slc2a7 |
T |
C |
4: 150,163,274 (GRCm38) |
V377A |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,989,055 (GRCm38) |
V508A |
possibly damaging |
Het |
| Stag2 |
A |
G |
X: 42,233,872 (GRCm38) |
S400G |
probably benign |
Het |
| Stat6 |
T |
G |
10: 127,651,228 (GRCm38) |
I201M |
probably damaging |
Het |
| Stim2 |
T |
C |
5: 54,116,194 (GRCm38) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,210,478 (GRCm38) |
Y63C |
probably damaging |
Het |
| Tctn2 |
T |
C |
5: 124,620,189 (GRCm38) |
|
noncoding transcript |
Het |
| Tmem181a |
T |
A |
17: 6,295,786 (GRCm38) |
L185H |
probably damaging |
Het |
| Ubr5 |
T |
A |
15: 38,004,336 (GRCm38) |
T1282S |
probably damaging |
Het |
| Ufl1 |
A |
T |
4: 25,254,806 (GRCm38) |
I550N |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,158,372 (GRCm38) |
V557A |
possibly damaging |
Het |
| Vmn1r54 |
T |
C |
6: 90,269,271 (GRCm38) |
S56P |
probably damaging |
Het |
| Zfp980 |
G |
A |
4: 145,702,083 (GRCm38) |
G461S |
probably benign |
Het |
|
| Other mutations in Elf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02141:Elf3
|
APN |
1 |
135,257,707 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02470:Elf3
|
APN |
1 |
135,255,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03018:Elf3
|
APN |
1 |
135,256,065 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
IGL03252:Elf3
|
APN |
1 |
135,254,953 (GRCm38) |
missense |
probably damaging |
1.00 |
|
P0026:Elf3
|
UTSW |
1 |
135,255,973 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0087:Elf3
|
UTSW |
1 |
135,257,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1842:Elf3
|
UTSW |
1 |
135,256,793 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R1897:Elf3
|
UTSW |
1 |
135,257,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2081:Elf3
|
UTSW |
1 |
135,257,076 (GRCm38) |
missense |
probably benign |
0.12 |
|
R4049:Elf3
|
UTSW |
1 |
135,254,277 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4630:Elf3
|
UTSW |
1 |
135,256,740 (GRCm38) |
intron |
probably benign |
|
|
R4715:Elf3
|
UTSW |
1 |
135,257,752 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4923:Elf3
|
UTSW |
1 |
135,256,735 (GRCm38) |
intron |
probably benign |
|
|
R5226:Elf3
|
UTSW |
1 |
135,257,239 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5422:Elf3
|
UTSW |
1 |
135,255,040 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5706:Elf3
|
UTSW |
1 |
135,256,482 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7115:Elf3
|
UTSW |
1 |
135,257,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7644:Elf3
|
UTSW |
1 |
135,256,506 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R7855:Elf3
|
UTSW |
1 |
135,254,352 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7940:Elf3
|
UTSW |
1 |
135,257,128 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8315:Elf3
|
UTSW |
1 |
135,256,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8723:Elf3
|
UTSW |
1 |
135,257,647 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8724:Elf3
|
UTSW |
1 |
135,254,360 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8906:Elf3
|
UTSW |
1 |
135,254,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8960:Elf3
|
UTSW |
1 |
135,255,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGAGAGGCCCAGGATACC -3'
(R):5'- TCGGGACCTCAGTAAGTCTAGG -3'
Sequencing Primer
(F):5'- TCCAGGGACCACAGAAATGACTATG -3'
(R):5'- ACCTCAGTAAGTCTAGGCTGGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation