Incidental Mutation 'IGL00468:Nfil3'
| ID |
4308 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nfil3
|
| Ensembl Gene |
ENSMUSG00000056749 |
| Gene Name |
nuclear factor, interleukin 3, regulated |
| Synonyms |
E4BP4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
53121245-53135109 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 53121610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 431
(L431F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071065]
|
| AlphaFold |
O08750 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071065
AA Change: L431F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065363
Gene: ENSMUSG00000056749
AA Change: L431F
| Domain | Start | End | E-Value | Type |
|---|
|
BRLZ
|
71 |
135 |
2.84e-5 |
SMART |
|
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083837
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a transcriptional regulator that binds as a homodimer to activating transcription factor (ATF) sites in many cellular and viral promoters. The encoded protein represses Per1 and Per2 expression and therefore plays a role in the regulation of circadian rhythm. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased NK cell differentiation, numbers, and activity. Mice homozygous for a different knock-out allele exhibit reduced class switching and IgE production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,630,453 (GRCm39) |
E123G |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,438,894 (GRCm39) |
L1300Q |
probably benign |
Het |
| Armc9 |
T |
C |
1: 86,126,061 (GRCm39) |
Y51H |
probably damaging |
Het |
| Bcl11b |
A |
G |
12: 107,932,074 (GRCm39) |
V166A |
possibly damaging |
Het |
| Cfap70 |
T |
A |
14: 20,462,530 (GRCm39) |
D565V |
possibly damaging |
Het |
| Cops5 |
C |
A |
1: 10,104,295 (GRCm39) |
G132W |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,972,135 (GRCm39) |
V468M |
probably damaging |
Het |
| Fasn |
A |
C |
11: 120,711,365 (GRCm39) |
D216E |
probably damaging |
Het |
| Fktn |
T |
A |
4: 53,734,866 (GRCm39) |
I168K |
probably benign |
Het |
| Gal3st2c |
A |
G |
1: 93,936,771 (GRCm39) |
R239G |
probably benign |
Het |
| Glt6d1 |
A |
C |
2: 25,701,041 (GRCm39) |
L36R |
probably damaging |
Het |
| Herc3 |
A |
G |
6: 58,895,751 (GRCm39) |
I1000V |
probably benign |
Het |
| Hycc2 |
T |
G |
1: 58,569,391 (GRCm39) |
E396A |
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lhcgr |
C |
T |
17: 89,049,874 (GRCm39) |
V551I |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,391,991 (GRCm39) |
S437R |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,595,151 (GRCm39) |
|
probably benign |
Het |
| Lrriq3 |
A |
G |
3: 154,806,816 (GRCm39) |
D155G |
probably damaging |
Het |
| Mcf2 |
G |
A |
X: 59,179,095 (GRCm39) |
T104I |
probably damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mipep |
A |
G |
14: 61,112,709 (GRCm39) |
E664G |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,385,124 (GRCm39) |
V519D |
probably damaging |
Het |
| Sctr |
T |
A |
1: 119,972,450 (GRCm39) |
V197E |
probably damaging |
Het |
| Sesn2 |
T |
C |
4: 132,227,124 (GRCm39) |
T103A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,117,390 (GRCm39) |
V453D |
probably damaging |
Het |
| Supt5 |
A |
T |
7: 28,014,807 (GRCm39) |
H1023Q |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,947,640 (GRCm39) |
|
probably benign |
Het |
| Tekt2 |
T |
A |
4: 126,216,982 (GRCm39) |
E262D |
possibly damaging |
Het |
| Tenm4 |
T |
A |
7: 96,523,679 (GRCm39) |
H1732Q |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,251,469 (GRCm39) |
D840G |
possibly damaging |
Het |
| Tox4 |
A |
G |
14: 52,523,202 (GRCm39) |
D54G |
probably damaging |
Het |
|
| Other mutations in Nfil3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01017:Nfil3
|
APN |
13 |
53,122,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02158:Nfil3
|
APN |
13 |
53,122,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
luna
|
UTSW |
13 |
53,122,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0140:Nfil3
|
UTSW |
13 |
53,121,681 (GRCm39) |
nonsense |
probably null |
|
|
R2080:Nfil3
|
UTSW |
13 |
53,122,069 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4235:Nfil3
|
UTSW |
13 |
53,122,835 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4773:Nfil3
|
UTSW |
13 |
53,122,050 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5002:Nfil3
|
UTSW |
13 |
53,122,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5155:Nfil3
|
UTSW |
13 |
53,122,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5309:Nfil3
|
UTSW |
13 |
53,121,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5312:Nfil3
|
UTSW |
13 |
53,121,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5404:Nfil3
|
UTSW |
13 |
53,122,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5679:Nfil3
|
UTSW |
13 |
53,122,527 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5855:Nfil3
|
UTSW |
13 |
53,122,746 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6855:Nfil3
|
UTSW |
13 |
53,122,641 (GRCm39) |
nonsense |
probably null |
|
|
R7836:Nfil3
|
UTSW |
13 |
53,121,968 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7870:Nfil3
|
UTSW |
13 |
53,122,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8394:Nfil3
|
UTSW |
13 |
53,121,849 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8713:Nfil3
|
UTSW |
13 |
53,122,047 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9008:Nfil3
|
UTSW |
13 |
53,121,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9143:Nfil3
|
UTSW |
13 |
53,121,792 (GRCm39) |
missense |
probably benign |
|
|
R9733:Nfil3
|
UTSW |
13 |
53,121,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation