Incidental Mutation 'R2342:Elf1'
ID |
246800 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Elf1
|
Ensembl Gene |
ENSMUSG00000036461 |
Gene Name |
E74 like ETS transcription factor 1 |
Synonyms |
Elf-1 |
MMRRC Submission |
040328-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.281)
|
Stock # |
R2342 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
79718632-79819931 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 79802896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153956
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040131]
[ENSMUST00000110835]
[ENSMUST00000227192]
|
AlphaFold |
Q60775 |
Predicted Effect |
probably benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000176930
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227192
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
Validation Efficiency |
100% (39/39) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef28 |
C |
T |
13: 98,130,537 (GRCm39) |
E434K |
probably benign |
Het |
Babam1 |
T |
A |
8: 71,855,515 (GRCm39) |
M236K |
probably benign |
Het |
Camk1 |
T |
C |
6: 113,318,942 (GRCm39) |
|
probably benign |
Het |
Chd8 |
A |
C |
14: 52,442,674 (GRCm39) |
N625K |
probably benign |
Het |
Dcaf8 |
A |
G |
1: 172,013,928 (GRCm39) |
H373R |
possibly damaging |
Het |
Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
Epha2 |
C |
T |
4: 141,050,842 (GRCm39) |
A866V |
probably benign |
Het |
Frmd6 |
C |
A |
12: 70,930,592 (GRCm39) |
Y237* |
probably null |
Het |
Glg1 |
A |
T |
8: 111,914,439 (GRCm39) |
C448* |
probably null |
Het |
Gm4787 |
G |
T |
12: 81,425,532 (GRCm39) |
R209S |
possibly damaging |
Het |
Hhipl1 |
T |
C |
12: 108,284,721 (GRCm39) |
L358P |
probably damaging |
Het |
Hmgxb3 |
G |
A |
18: 61,296,063 (GRCm39) |
T315I |
possibly damaging |
Het |
Irak2 |
C |
A |
6: 113,670,632 (GRCm39) |
T539K |
probably benign |
Het |
Lrp1b |
C |
A |
2: 40,809,208 (GRCm39) |
G2568C |
possibly damaging |
Het |
Meis1 |
C |
T |
11: 18,831,647 (GRCm39) |
A464T |
probably damaging |
Het |
Or10g1b |
C |
A |
14: 52,627,322 (GRCm39) |
A303S |
possibly damaging |
Het |
Or6a2 |
T |
C |
7: 106,600,116 (GRCm39) |
D317G |
probably benign |
Het |
Orc4 |
A |
G |
2: 48,817,152 (GRCm39) |
S179P |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pnliprp1 |
A |
G |
19: 58,729,691 (GRCm39) |
|
probably benign |
Het |
Prpf40b |
T |
A |
15: 99,204,049 (GRCm39) |
V174D |
probably damaging |
Het |
Rnf169 |
T |
C |
7: 99,574,652 (GRCm39) |
K648E |
possibly damaging |
Het |
Rtf1 |
A |
G |
2: 119,542,598 (GRCm39) |
T301A |
probably benign |
Het |
Sdccag8 |
T |
C |
1: 176,747,207 (GRCm39) |
V528A |
probably benign |
Het |
Sgsh |
A |
G |
11: 119,238,540 (GRCm39) |
V308A |
probably benign |
Het |
Shmt2 |
A |
G |
10: 127,354,680 (GRCm39) |
V335A |
possibly damaging |
Het |
Skint6 |
T |
A |
4: 113,034,180 (GRCm39) |
T316S |
probably benign |
Het |
Tbl2 |
G |
A |
5: 135,187,607 (GRCm39) |
R288Q |
possibly damaging |
Het |
Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,353,599 (GRCm39) |
K1469E |
possibly damaging |
Het |
Virma |
T |
C |
4: 11,501,316 (GRCm39) |
Y92H |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
Wnt16 |
A |
G |
6: 22,288,923 (GRCm39) |
E80G |
probably damaging |
Het |
Zbtb10 |
C |
T |
3: 9,330,255 (GRCm39) |
P538S |
possibly damaging |
Het |
Zup1 |
G |
A |
10: 33,804,113 (GRCm39) |
H454Y |
probably 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 |
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 |
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'- CTGCCCCACAGCTAGCATAATG -3'
(R):5'- TGCTTGGGACCCACAAAAG -3'
Sequencing Primer
(F):5'- CAGCTAGCATAATGTGAAACCTTC -3'
(R):5'- GCATCTCTAAAGGGGAGGGC -3'
|
Posted On |
2014-10-30 |