Incidental Mutation 'IGL02582:Elf1'
| ID |
299387 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02582
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
79718632-79819931 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79773819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 10
(L10P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153956
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040131]
[ENSMUST00000110835]
[ENSMUST00000227192]
|
| AlphaFold |
Q60775 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040131
AA Change: L10P
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000046515
Gene: ENSMUSG00000036461
AA Change: L10P
| 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: L10P
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106459
Gene: ENSMUSG00000036461
AA Change: L10P
| 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: ENSMUST00000227104
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227192
AA Change: L10P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
A |
9: 53,506,045 (GRCm39) |
I92F |
probably benign |
Het |
| Actr3b |
A |
G |
5: 26,037,411 (GRCm39) |
I208V |
probably benign |
Het |
| Car12 |
T |
C |
9: 66,621,159 (GRCm39) |
V10A |
probably benign |
Het |
| Ccdc171 |
C |
A |
4: 83,661,255 (GRCm39) |
R1122S |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,742,539 (GRCm39) |
V136A |
probably damaging |
Het |
| Cilp2 |
G |
T |
8: 70,333,936 (GRCm39) |
Q1021K |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,020,247 (GRCm39) |
T206N |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,141 (GRCm39) |
I2328K |
possibly damaging |
Het |
| Ctns |
A |
G |
11: 73,087,478 (GRCm39) |
F16S |
probably benign |
Het |
| Dbf4 |
T |
C |
5: 8,453,172 (GRCm39) |
K276E |
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,294,840 (GRCm39) |
Q118L |
probably benign |
Het |
| Exosc5 |
T |
C |
7: 25,364,988 (GRCm39) |
|
probably null |
Het |
| Fam163b |
C |
T |
2: 27,003,570 (GRCm39) |
C28Y |
probably damaging |
Het |
| Fam180a |
G |
T |
6: 35,290,647 (GRCm39) |
A112E |
possibly damaging |
Het |
| Fam3b |
A |
T |
16: 97,272,391 (GRCm39) |
Y89* |
probably null |
Het |
| Gcg |
C |
T |
2: 62,308,922 (GRCm39) |
W77* |
probably null |
Het |
| Gm17472 |
G |
A |
6: 42,957,832 (GRCm39) |
V34I |
possibly damaging |
Het |
| Klhl23 |
T |
A |
2: 69,654,582 (GRCm39) |
C151S |
probably damaging |
Het |
| Mdh1b |
T |
A |
1: 63,758,756 (GRCm39) |
I279F |
probably benign |
Het |
| Mfsd11 |
T |
A |
11: 116,764,701 (GRCm39) |
I375N |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,937,997 (GRCm39) |
I206N |
probably damaging |
Het |
| Myo1b |
T |
C |
1: 51,821,133 (GRCm39) |
E456G |
possibly damaging |
Het |
| Nat8 |
G |
A |
6: 85,807,783 (GRCm39) |
Q117* |
probably null |
Het |
| Nlrp4g |
A |
C |
9: 124,349,764 (GRCm38) |
|
noncoding transcript |
Het |
| Nmt1 |
G |
T |
11: 102,955,625 (GRCm39) |
G468C |
possibly damaging |
Het |
| Nobox |
G |
T |
6: 43,281,973 (GRCm39) |
Q367K |
possibly damaging |
Het |
| Nusap1 |
A |
G |
2: 119,479,470 (GRCm39) |
*428W |
probably null |
Het |
| Or12j4 |
T |
C |
7: 140,046,560 (GRCm39) |
F149L |
probably benign |
Het |
| Or4c126 |
G |
A |
2: 89,824,656 (GRCm39) |
M306I |
probably benign |
Het |
| Pbp2 |
T |
C |
6: 135,287,147 (GRCm39) |
I67V |
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,488,427 (GRCm39) |
M35R |
possibly damaging |
Het |
| Pkp1 |
T |
C |
1: 135,817,664 (GRCm39) |
E157G |
probably damaging |
Het |
| Pomgnt1 |
C |
T |
4: 116,015,747 (GRCm39) |
L560F |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,355,713 (GRCm39) |
T227A |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 75,865,361 (GRCm39) |
R1446S |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,479,860 (GRCm39) |
T1137A |
probably benign |
Het |
| Sec22c |
T |
C |
9: 121,514,630 (GRCm39) |
I153V |
probably benign |
Het |
| Slc30a5 |
C |
T |
13: 100,949,155 (GRCm39) |
|
probably null |
Het |
| Smcr8 |
T |
C |
11: 60,669,721 (GRCm39) |
S290P |
probably benign |
Het |
| Stambpl1 |
T |
G |
19: 34,212,612 (GRCm39) |
L261V |
probably benign |
Het |
| Stk38l |
T |
C |
6: 146,668,321 (GRCm39) |
|
probably null |
Het |
| Themis |
T |
C |
10: 28,637,543 (GRCm39) |
F216L |
probably benign |
Het |
| Trmt1l |
T |
C |
1: 151,309,536 (GRCm39) |
|
probably benign |
Het |
| Usp17lb |
C |
A |
7: 104,489,937 (GRCm39) |
C330F |
probably damaging |
Het |
| Vmn2r120 |
A |
T |
17: 57,831,724 (GRCm39) |
L355H |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,653,341 (GRCm39) |
C82S |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation