Incidental Mutation 'R8068:Elf1'
| ID |
620126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elf1
|
| Ensembl Gene |
ENSMUSG00000036461 |
| Gene Name |
E74 like ETS transcription factor 1 |
| Synonyms |
Elf-1 |
| MMRRC Submission |
067503-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R8068 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
79718632-79819931 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79773830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 14
(F14I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040131]
[ENSMUST00000110835]
[ENSMUST00000227192]
|
| AlphaFold |
Q60775 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040131
AA Change: F14I
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000046515
Gene: ENSMUSG00000036461
AA Change: F14I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
2 |
111 |
1.5e-47 |
PFAM |
|
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
|
ETS
|
207 |
294 |
6.39e-52 |
SMART |
|
low complexity region
|
299 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110835
AA Change: F14I
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000106459
Gene: ENSMUSG00000036461
AA Change: F14I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Elf-1_N
|
1 |
111 |
1.9e-47 |
PFAM |
|
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
|
ETS
|
207 |
294 |
6.39e-52 |
SMART |
|
low complexity region
|
299 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227192
AA Change: F14I
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E26 transformation-specific related transcription factor. The encoded protein is primarily expressed in lymphoid cells and acts as both an enhancer and a repressor to regulate transcription of various genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene show no obvious phenotypic abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
A |
8: 41,278,975 (GRCm39) |
D455E |
not run |
Het |
| Aldoc |
T |
C |
11: 78,215,553 (GRCm39) |
F79S |
possibly damaging |
Het |
| Atmin |
A |
G |
8: 117,683,389 (GRCm39) |
S350G |
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,390,711 (GRCm39) |
F206S |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,259,711 (GRCm39) |
I698L |
probably benign |
Het |
| Cd47 |
T |
A |
16: 49,715,779 (GRCm39) |
S182T |
|
Het |
| Ces2e |
G |
T |
8: 105,659,629 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
A |
G |
5: 123,394,229 (GRCm39) |
S373G |
not run |
Het |
| Cit |
C |
A |
5: 116,090,525 (GRCm39) |
H906Q |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,120,294 (GRCm39) |
S1370P |
probably benign |
Het |
| Dchs2 |
T |
C |
3: 83,207,745 (GRCm39) |
F1739L |
probably benign |
Het |
| Dlx4 |
T |
C |
11: 95,036,156 (GRCm39) |
Y51C |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,883,276 (GRCm39) |
Y796* |
probably null |
Het |
| Fam135b |
T |
C |
15: 71,404,827 (GRCm39) |
Q73R |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gls2 |
C |
G |
10: 128,030,983 (GRCm39) |
R81G |
unknown |
Het |
| Hnrnpll |
T |
C |
17: 80,358,281 (GRCm39) |
M157V |
possibly damaging |
Het |
| Itgb3 |
T |
A |
11: 104,556,337 (GRCm39) |
M726K |
probably benign |
Het |
| Kcna10 |
T |
G |
3: 107,101,726 (GRCm39) |
M119R |
possibly damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,924,250 (GRCm39) |
T155A |
probably benign |
Het |
| Kctd9 |
T |
A |
14: 67,962,111 (GRCm39) |
D51E |
unknown |
Het |
| Lgr6 |
T |
C |
1: 134,991,402 (GRCm39) |
I129V |
probably benign |
Het |
| Lrrfip1 |
A |
T |
1: 91,055,824 (GRCm39) |
D598V |
probably damaging |
Het |
| Ltbp4 |
G |
T |
7: 27,023,593 (GRCm39) |
Q850K |
probably damaging |
Het |
| Mdm1 |
A |
G |
10: 117,982,709 (GRCm39) |
R115G |
possibly damaging |
Het |
| Mns1 |
A |
C |
9: 72,355,809 (GRCm39) |
|
probably null |
Het |
| Mthfs |
G |
A |
9: 89,093,288 (GRCm39) |
R14Q |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,298,422 (GRCm39) |
S25T |
|
Het |
| Ncapd3 |
T |
C |
9: 26,974,657 (GRCm39) |
S710P |
possibly damaging |
Het |
| Nrip1 |
T |
A |
16: 76,089,841 (GRCm39) |
H572L |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Opa3 |
A |
G |
7: 18,978,910 (GRCm39) |
E125G |
probably damaging |
Het |
| Or52p1 |
T |
A |
7: 104,267,460 (GRCm39) |
C191* |
probably null |
Het |
| Or5ap2 |
A |
G |
2: 85,680,150 (GRCm39) |
E118G |
probably damaging |
Het |
| Or5w19 |
A |
G |
2: 87,698,995 (GRCm39) |
Y220C |
probably benign |
Het |
| P3h1 |
A |
G |
4: 119,094,059 (GRCm39) |
Y238C |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,763,555 (GRCm39) |
D652G |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,138,618 (GRCm39) |
N82K |
probably damaging |
Het |
| Pde4b |
T |
C |
4: 102,453,212 (GRCm39) |
I293T |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Qki |
T |
C |
17: 10,537,732 (GRCm39) |
D24G |
possibly damaging |
Het |
| Rbpjl |
A |
G |
2: 164,250,438 (GRCm39) |
K197E |
possibly damaging |
Het |
| Rnf111 |
A |
T |
9: 70,365,223 (GRCm39) |
S415T |
probably benign |
Het |
| Scyl1 |
A |
G |
19: 5,810,853 (GRCm39) |
V488A |
probably damaging |
Het |
| Slc1a6 |
G |
C |
10: 78,648,706 (GRCm39) |
V476L |
possibly damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,146,365 (GRCm39) |
F84I |
probably benign |
Het |
| Slc22a4 |
A |
C |
11: 53,888,269 (GRCm39) |
I253S |
possibly damaging |
Het |
| Speer2 |
T |
C |
16: 69,657,412 (GRCm39) |
H77R |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,398,894 (GRCm39) |
S2114P |
probably damaging |
Het |
| Synpo2 |
T |
A |
3: 122,911,041 (GRCm39) |
R201S |
possibly damaging |
Het |
| Ttpa |
C |
A |
4: 20,028,419 (GRCm39) |
H225Q |
probably damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,261 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,623,507 (GRCm39) |
V271D |
probably benign |
Het |
| Zfp53 |
A |
T |
17: 21,729,274 (GRCm39) |
T436S |
probably benign |
Het |
|
| Other mutations in Elf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Elf1
|
APN |
14 |
79,817,789 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02582:Elf1
|
APN |
14 |
79,773,819 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Elvis
|
UTSW |
14 |
79,808,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Erlkoenig
|
UTSW |
14 |
79,808,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hound_dog
|
UTSW |
14 |
79,810,667 (GRCm39) |
nonsense |
probably null |
|
|
presley
|
UTSW |
14 |
79,808,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
schubert
|
UTSW |
14 |
79,808,322 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0049:Elf1
|
UTSW |
14 |
79,802,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1344:Elf1
|
UTSW |
14 |
79,798,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1418:Elf1
|
UTSW |
14 |
79,798,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1483:Elf1
|
UTSW |
14 |
79,818,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1557:Elf1
|
UTSW |
14 |
79,804,620 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2342:Elf1
|
UTSW |
14 |
79,802,896 (GRCm39) |
intron |
probably benign |
|
|
R3151:Elf1
|
UTSW |
14 |
79,804,755 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3771:Elf1
|
UTSW |
14 |
79,804,650 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3772:Elf1
|
UTSW |
14 |
79,804,650 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3773:Elf1
|
UTSW |
14 |
79,804,650 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4031:Elf1
|
UTSW |
14 |
79,806,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Elf1
|
UTSW |
14 |
79,818,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4784:Elf1
|
UTSW |
14 |
79,818,183 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5012:Elf1
|
UTSW |
14 |
79,808,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6088:Elf1
|
UTSW |
14 |
79,804,701 (GRCm39) |
missense |
probably benign |
|
|
R6293:Elf1
|
UTSW |
14 |
79,798,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6329:Elf1
|
UTSW |
14 |
79,810,779 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7000:Elf1
|
UTSW |
14 |
79,808,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7140:Elf1
|
UTSW |
14 |
79,804,710 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7621:Elf1
|
UTSW |
14 |
79,808,322 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7641:Elf1
|
UTSW |
14 |
79,808,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7812:Elf1
|
UTSW |
14 |
79,802,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7839:Elf1
|
UTSW |
14 |
79,773,855 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7919:Elf1
|
UTSW |
14 |
79,798,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8253:Elf1
|
UTSW |
14 |
79,773,792 (GRCm39) |
start codon destroyed |
probably null |
0.68 |
|
R8725:Elf1
|
UTSW |
14 |
79,810,667 (GRCm39) |
nonsense |
probably null |
|
|
R8727:Elf1
|
UTSW |
14 |
79,810,667 (GRCm39) |
nonsense |
probably null |
|
|
R9152:Elf1
|
UTSW |
14 |
79,808,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Elf1
|
UTSW |
14 |
79,798,290 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9778:Elf1
|
UTSW |
14 |
79,817,948 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0028:Elf1
|
UTSW |
14 |
79,803,018 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCGTCTTGTCTGCAGTAAC -3'
(R):5'- GTGAGTCCCAAATACTACTTCCTTG -3'
Sequencing Primer
(F):5'- GTCTGCAGTAACTTCACAGACCTG -3'
(R):5'- TACTTCCTTGTTACCACATCAAAAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation