Incidental Mutation 'R7621:Elf1'
ID |
589162 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elf1
|
Ensembl Gene |
ENSMUSG00000036461 |
Gene Name |
E74 like ETS transcription factor 1 |
Synonyms |
Elf-1 |
MMRRC Submission |
045688-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.295)
|
Stock # |
R7621 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
79718632-79819931 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79808322 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 258
(D258G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040131]
[ENSMUST00000110835]
[ENSMUST00000227192]
|
AlphaFold |
Q60775 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040131
AA Change: D258G
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000046515 Gene: ENSMUSG00000036461 AA Change: D258G
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 |
possibly damaging
Transcript: ENSMUST00000110835
AA Change: D258G
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000106459 Gene: ENSMUSG00000036461 AA Change: D258G
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 damaging
Transcript: ENSMUST00000227192
AA Change: D221G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.4286 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (45/45) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
A |
11: 110,051,359 (GRCm39) |
K112N |
probably benign |
Het |
Brwd1 |
A |
G |
16: 95,866,087 (GRCm39) |
S232P |
probably damaging |
Het |
Calm5 |
A |
T |
13: 3,904,629 (GRCm39) |
M108L |
possibly damaging |
Het |
Ces1g |
A |
T |
8: 94,055,094 (GRCm39) |
V201D |
probably damaging |
Het |
Cltc |
C |
A |
11: 86,598,312 (GRCm39) |
V1017L |
probably benign |
Het |
Cpt1c |
C |
T |
7: 44,616,516 (GRCm39) |
R245Q |
probably damaging |
Het |
Csrnp1 |
C |
A |
9: 119,806,158 (GRCm39) |
A39S |
probably benign |
Het |
Entrep1 |
A |
C |
19: 23,972,168 (GRCm39) |
S179A |
possibly damaging |
Het |
Glipr1l1 |
A |
T |
10: 111,896,300 (GRCm39) |
D29V |
probably benign |
Het |
Gm4340 |
T |
C |
10: 104,031,820 (GRCm39) |
V188A |
probably benign |
Het |
Gsdma2 |
T |
C |
11: 98,540,375 (GRCm39) |
M98T |
probably benign |
Het |
Hars1 |
A |
T |
18: 36,903,476 (GRCm39) |
D315E |
probably benign |
Het |
Hsph1 |
A |
C |
5: 149,555,540 (GRCm39) |
Y89D |
probably damaging |
Het |
Ighv11-2 |
T |
A |
12: 114,012,008 (GRCm39) |
D69V |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,995,528 (GRCm39) |
G438D |
possibly damaging |
Het |
Krt6a |
G |
T |
15: 101,600,187 (GRCm39) |
T355K |
possibly damaging |
Het |
Lce1m |
T |
C |
3: 92,925,177 (GRCm39) |
|
probably null |
Het |
Lmbrd1 |
A |
T |
1: 24,767,625 (GRCm39) |
|
probably null |
Het |
Lmtk3 |
A |
G |
7: 45,442,841 (GRCm39) |
E508G |
probably damaging |
Het |
Lrrc2 |
G |
A |
9: 110,809,899 (GRCm39) |
V312I |
probably benign |
Het |
Lyn |
A |
T |
4: 3,789,834 (GRCm39) |
K477* |
probably null |
Het |
Nfe2l2 |
T |
C |
2: 75,509,757 (GRCm39) |
D21G |
probably damaging |
Het |
Or14c45 |
G |
A |
7: 86,176,280 (GRCm39) |
C105Y |
probably benign |
Het |
Or4f14d |
T |
C |
2: 111,960,926 (GRCm39) |
T77A |
probably benign |
Het |
Or55b3 |
G |
A |
7: 102,126,472 (GRCm39) |
R202C |
possibly damaging |
Het |
Or8c15 |
T |
C |
9: 38,120,447 (GRCm39) |
F31L |
probably benign |
Het |
Pgap6 |
C |
A |
17: 26,336,865 (GRCm39) |
P261Q |
probably benign |
Het |
Pkm |
T |
A |
9: 59,585,441 (GRCm39) |
C474* |
probably null |
Het |
Prr36 |
T |
A |
8: 4,263,150 (GRCm39) |
I839F |
unknown |
Het |
Qtrt2 |
A |
G |
16: 43,689,303 (GRCm39) |
|
probably null |
Het |
Ripk4 |
A |
T |
16: 97,547,125 (GRCm39) |
V379E |
probably damaging |
Het |
Rreb1 |
C |
A |
13: 38,133,042 (GRCm39) |
P304Q |
|
Het |
Saxo2 |
A |
T |
7: 82,297,625 (GRCm39) |
C5S |
possibly damaging |
Het |
Scart2 |
G |
A |
7: 139,876,742 (GRCm39) |
G711D |
probably damaging |
Het |
Sema5a |
C |
A |
15: 32,609,378 (GRCm39) |
T428N |
possibly damaging |
Het |
Setd5 |
C |
A |
6: 113,121,010 (GRCm39) |
P1073Q |
possibly damaging |
Het |
Sh2d5 |
T |
G |
4: 137,984,150 (GRCm39) |
C173G |
probably benign |
Het |
Slc4a10 |
T |
G |
2: 62,080,823 (GRCm39) |
V350G |
probably damaging |
Het |
Slco1a6 |
A |
G |
6: 142,106,743 (GRCm39) |
C15R |
probably damaging |
Het |
Smg7 |
A |
T |
1: 152,717,295 (GRCm39) |
F940Y |
possibly damaging |
Het |
Spata17 |
T |
A |
1: 186,854,833 (GRCm39) |
|
probably null |
Het |
Specc1 |
A |
G |
11: 62,019,210 (GRCm39) |
N603S |
possibly damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,421,673 (GRCm39) |
D355G |
probably damaging |
Het |
Thbs2 |
T |
C |
17: 14,894,426 (GRCm39) |
D807G |
probably benign |
Het |
Usp53 |
T |
C |
3: 122,754,934 (GRCm39) |
T174A |
probably benign |
Het |
Vmn2r52 |
A |
G |
7: 9,907,274 (GRCm39) |
Y151H |
probably benign |
Het |
Wdr12 |
G |
A |
1: 60,136,748 (GRCm39) |
|
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 |
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'- ACAATCGATTGGTGTGTTTCAG -3'
(R):5'- ACTTCATATGCAAGCTGGTTTC -3'
Sequencing Primer
(F):5'- CAGGAAACACAATTTACCTTTGGGAG -3'
(R):5'- GCTCAATGGTAGAATGCTCGTCTAC -3'
|
Posted On |
2019-10-24 |