Incidental Mutation 'R7919:Elf1'
| ID |
648247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Elf1
|
| Ensembl Gene |
ENSMUSG00000036461 |
| Gene Name |
E74 like ETS transcription factor 1 |
| Synonyms |
Elf-1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.281)
|
| Stock # |
R7919 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
79718632-79819931 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 79798339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 75
(D75E)
|
| 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: D75E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000046515
Gene: ENSMUSG00000036461
AA Change: D75E
| 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: D75E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106459
Gene: ENSMUSG00000036461
AA Change: D75E
| 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: D75E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
G |
3: 137,885,311 (GRCm39) |
K95T |
probably damaging |
Het |
| 9430097D07Rik |
T |
C |
2: 32,464,461 (GRCm39) |
T113A |
unknown |
Het |
| Abcc2 |
T |
C |
19: 43,805,248 (GRCm39) |
Y701H |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 69,036,091 (GRCm39) |
H190L |
probably benign |
Het |
| Arhgef15 |
T |
C |
11: 68,838,431 (GRCm39) |
T623A |
probably benign |
Het |
| Armc3 |
A |
G |
2: 19,290,906 (GRCm39) |
T462A |
probably benign |
Het |
| Calhm2 |
C |
T |
19: 47,121,447 (GRCm39) |
V241M |
possibly damaging |
Het |
| Cdc25c |
T |
C |
18: 34,868,429 (GRCm39) |
I314V |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,017,413 (GRCm39) |
D407N |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,350,742 (GRCm39) |
E2588G |
probably damaging |
Het |
| Dnm1 |
T |
A |
2: 32,229,990 (GRCm39) |
N178Y |
probably damaging |
Het |
| Eaf2 |
T |
A |
16: 36,630,914 (GRCm39) |
E86D |
probably damaging |
Het |
| Fem1c |
T |
C |
18: 46,657,370 (GRCm39) |
T115A |
probably damaging |
Het |
| Garnl3 |
A |
G |
2: 32,936,611 (GRCm39) |
V186A |
probably benign |
Het |
| Gatb |
T |
A |
3: 85,511,828 (GRCm39) |
S194R |
probably damaging |
Het |
| Gm10775 |
T |
A |
13: 65,407,913 (GRCm39) |
N71K |
unknown |
Het |
| Gm19965 |
T |
A |
1: 116,749,850 (GRCm39) |
C510* |
probably null |
Het |
| Hydin |
A |
G |
8: 110,993,971 (GRCm39) |
T2A |
unknown |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Jag1 |
G |
A |
2: 136,930,366 (GRCm39) |
T726M |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,408,439 (GRCm39) |
D1306G |
probably damaging |
Het |
| Krt26 |
T |
A |
11: 99,224,420 (GRCm39) |
E366V |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,899,418 (GRCm39) |
E872G |
possibly damaging |
Het |
| Med6 |
G |
A |
12: 81,620,621 (GRCm39) |
R242* |
probably null |
Het |
| Meis2 |
A |
G |
2: 115,697,788 (GRCm39) |
V370A |
probably benign |
Het |
| Mta2 |
C |
T |
19: 8,926,498 (GRCm39) |
R480* |
probably null |
Het |
| Mup3 |
A |
T |
4: 62,002,829 (GRCm39) |
N177K |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,417,356 (GRCm39) |
V3435E |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,853,390 (GRCm39) |
T880A |
probably benign |
Het |
| Obox1 |
A |
T |
7: 15,290,256 (GRCm39) |
K200* |
probably null |
Het |
| Or8j3 |
A |
T |
2: 86,028,609 (GRCm39) |
C162* |
probably null |
Het |
| Ovgp1 |
T |
A |
3: 105,888,601 (GRCm39) |
V319D |
probably damaging |
Het |
| Plxdc2 |
A |
T |
2: 16,553,036 (GRCm39) |
I145F |
probably damaging |
Het |
| Prr30 |
T |
C |
14: 101,436,547 (GRCm39) |
N5S |
possibly damaging |
Het |
| Ptcd3 |
T |
C |
6: 71,880,438 (GRCm39) |
Y95C |
probably damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,020,297 (GRCm39) |
S44P |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,273,595 (GRCm39) |
E49G |
probably benign |
Het |
| Shroom1 |
A |
G |
11: 53,354,220 (GRCm39) |
T47A |
probably benign |
Het |
| Slc20a1 |
G |
A |
2: 129,049,757 (GRCm39) |
D340N |
probably benign |
Het |
| Stx1b |
A |
G |
7: 127,406,507 (GRCm39) |
S281P |
probably benign |
Het |
| Tg |
A |
T |
15: 66,555,923 (GRCm39) |
I872F |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,399 (GRCm39) |
A564T |
probably benign |
Het |
| Vsnl1 |
T |
C |
12: 11,382,087 (GRCm39) |
E98G |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,624,822 (GRCm39) |
L1857P |
|
Het |
| Wars1 |
C |
T |
12: 108,847,030 (GRCm39) |
E125K |
probably benign |
Het |
| Wnt16 |
G |
A |
6: 22,291,049 (GRCm39) |
S159N |
probably benign |
Het |
| Zcchc14 |
A |
G |
8: 122,330,912 (GRCm39) |
F817S |
probably damaging |
Het |
| Zup1 |
A |
G |
10: 33,825,108 (GRCm39) |
S125P |
possibly damaging |
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 |
|
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 |
|
| Posted On |
2020-09-15 |
Incidental Mutation