Incidental Mutation 'R3151:Elf1'
| ID |
264426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elf1
|
| Ensembl Gene |
ENSMUSG00000036461 |
| Gene Name |
E74 like ETS transcription factor 1 |
| Synonyms |
Elf-1 |
| MMRRC Submission |
040603-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R3151 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
79718632-79819931 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 79804755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040131]
[ENSMUST00000040131]
[ENSMUST00000110835]
[ENSMUST00000110835]
[ENSMUST00000227192]
[ENSMUST00000227192]
|
| AlphaFold |
Q60775 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040131
|
| SMART Domains |
Protein: ENSMUSP00000046515
Gene: ENSMUSG00000036461
| 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 null
Transcript: ENSMUST00000040131
|
| SMART Domains |
Protein: ENSMUSP00000046515
Gene: ENSMUSG00000036461
| 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 null
Transcript: ENSMUST00000110835
|
| SMART Domains |
Protein: ENSMUSP00000106459
Gene: ENSMUSG00000036461
| 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 null
Transcript: ENSMUST00000110835
|
| SMART Domains |
Protein: ENSMUSP00000106459
Gene: ENSMUSG00000036461
| 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 null
Transcript: ENSMUST00000227192
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227192
|
| Meta Mutation Damage Score |
0.9582 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (61/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam5 |
A |
G |
8: 25,271,647 (GRCm39) |
Y587H |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,987,308 (GRCm39) |
V2864A |
probably benign |
Het |
| Ano2 |
G |
A |
6: 125,990,280 (GRCm39) |
|
probably null |
Het |
| Arl5c |
A |
G |
11: 97,883,159 (GRCm39) |
I147T |
probably damaging |
Het |
| Asap2 |
T |
A |
12: 21,274,378 (GRCm39) |
F369I |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,228 (GRCm39) |
F38L |
probably benign |
Het |
| B230217C12Rik |
TGTGTCG |
TG |
11: 97,733,014 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
A |
T |
1: 136,033,532 (GRCm39) |
Y1003F |
probably damaging |
Het |
| Ccdc178 |
A |
T |
18: 21,944,618 (GRCm39) |
M847K |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,621,272 (GRCm39) |
K601E |
probably benign |
Het |
| Cnih4 |
A |
G |
1: 180,981,292 (GRCm39) |
|
probably benign |
Het |
| Cnpy3 |
A |
T |
17: 47,058,452 (GRCm39) |
V57E |
probably damaging |
Het |
| Creb3l1 |
T |
A |
2: 91,832,378 (GRCm39) |
E48V |
probably damaging |
Het |
| Dus3l |
T |
A |
17: 57,075,899 (GRCm39) |
F482I |
probably benign |
Het |
| Dync1i2 |
A |
G |
2: 71,064,060 (GRCm39) |
|
probably benign |
Het |
| Echdc1 |
A |
G |
10: 29,198,360 (GRCm39) |
T102A |
possibly damaging |
Het |
| Elp1 |
T |
C |
4: 56,770,985 (GRCm39) |
Y986C |
probably benign |
Het |
| Ep400 |
G |
T |
5: 110,851,435 (GRCm39) |
T1349N |
unknown |
Het |
| Eps15 |
T |
A |
4: 109,223,419 (GRCm39) |
D458E |
probably benign |
Het |
| F2rl2 |
G |
A |
13: 95,837,638 (GRCm39) |
V228I |
probably benign |
Het |
| Fads3 |
T |
G |
19: 10,035,262 (GRCm39) |
S438A |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,816,665 (GRCm39) |
C2376S |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,473,652 (GRCm39) |
S1138P |
possibly damaging |
Het |
| Ggt5 |
T |
C |
10: 75,445,076 (GRCm39) |
I361T |
probably benign |
Het |
| Gpr158 |
C |
T |
2: 21,581,771 (GRCm39) |
R417W |
possibly damaging |
Het |
| Gria1 |
A |
G |
11: 57,174,388 (GRCm39) |
I626V |
probably damaging |
Het |
| Gys2 |
T |
C |
6: 142,402,059 (GRCm39) |
E260G |
probably benign |
Het |
| Ido2 |
T |
A |
8: 25,023,776 (GRCm39) |
Y354F |
possibly damaging |
Het |
| Igkv6-23 |
A |
G |
6: 70,237,543 (GRCm39) |
L66P |
probably benign |
Het |
| Kremen1 |
T |
C |
11: 5,145,012 (GRCm39) |
K455E |
probably damaging |
Het |
| Krtap19-9b |
T |
C |
16: 88,729,096 (GRCm39) |
S2G |
unknown |
Het |
| Magea1 |
A |
T |
X: 153,872,093 (GRCm39) |
M211K |
probably benign |
Het |
| Mtx2 |
G |
A |
2: 74,677,634 (GRCm39) |
|
probably null |
Het |
| Nlrp14 |
G |
A |
7: 106,781,759 (GRCm39) |
V319I |
probably benign |
Het |
| Nphs1 |
A |
T |
7: 30,159,665 (GRCm39) |
T33S |
probably benign |
Het |
| Or12j2 |
A |
T |
7: 139,916,243 (GRCm39) |
H156L |
probably benign |
Het |
| Or2t6 |
T |
A |
14: 14,175,203 (GRCm38) |
N293I |
probably damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,466 (GRCm39) |
H162L |
probably damaging |
Het |
| P2rx7 |
A |
G |
5: 122,819,329 (GRCm39) |
T584A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,692 (GRCm39) |
Q359R |
probably damaging |
Het |
| Phtf2 |
T |
C |
5: 20,970,802 (GRCm39) |
E147G |
probably damaging |
Het |
| Ptges2 |
G |
A |
2: 32,286,488 (GRCm39) |
A68T |
probably benign |
Het |
| Rab33b |
A |
T |
3: 51,401,069 (GRCm39) |
N181I |
possibly damaging |
Het |
| Rnf213 |
A |
T |
11: 119,359,718 (GRCm39) |
R4370S |
probably benign |
Het |
| Rpf1 |
G |
A |
3: 146,213,390 (GRCm39) |
R254W |
probably damaging |
Het |
| Serpinb7 |
A |
T |
1: 107,363,081 (GRCm39) |
R82* |
probably null |
Het |
| Setbp1 |
A |
G |
18: 78,900,650 (GRCm39) |
S1006P |
probably damaging |
Het |
| Spata31d1a |
T |
C |
13: 59,849,180 (GRCm39) |
S983G |
probably benign |
Het |
| Ssr2 |
T |
C |
3: 88,487,323 (GRCm39) |
I46T |
probably damaging |
Het |
| Ssx2ip |
G |
A |
3: 146,124,138 (GRCm39) |
G51D |
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,757,514 (GRCm39) |
L878H |
probably damaging |
Het |
| Th |
G |
A |
7: 142,447,812 (GRCm39) |
Q329* |
probably null |
Het |
| Tln2 |
C |
T |
9: 67,237,829 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,805,862 (GRCm39) |
L542P |
probably damaging |
Het |
| Trp53bp2 |
A |
G |
1: 182,256,525 (GRCm39) |
T32A |
probably damaging |
Het |
| Vmn1r40 |
A |
T |
6: 89,691,548 (GRCm39) |
T122S |
probably benign |
Het |
| Vmn2r121 |
C |
T |
X: 123,040,849 (GRCm39) |
C494Y |
probably benign |
Het |
| Vmn2r51 |
A |
T |
7: 9,833,968 (GRCm39) |
Y357N |
probably damaging |
Het |
| Vmn2r55 |
G |
T |
7: 12,404,634 (GRCm39) |
S256R |
probably benign |
Het |
| Vps8 |
A |
G |
16: 21,261,123 (GRCm39) |
T88A |
probably benign |
Het |
| Zfp977 |
A |
C |
7: 42,229,870 (GRCm39) |
N218K |
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 |
|
|
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 |
|
R8068:Elf1
|
UTSW |
14 |
79,773,830 (GRCm39) |
missense |
probably benign |
0.04 |
|
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'- ATCCTTGATTTAGGGCAGAGG -3'
(R):5'- ATCTCCTGTCAGATAGCTCAAC -3'
Sequencing Primer
(F):5'- TCCTTGATTTAGGGCAGAGGAAATG -3'
(R):5'- AGCTCAACTATTATAAGTACCTAGGG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation