Incidental Mutation 'R5855:Nfil3'
| ID |
454879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfil3
|
| Ensembl Gene |
ENSMUSG00000056749 |
| Gene Name |
nuclear factor, interleukin 3, regulated |
| Synonyms |
E4BP4 |
| MMRRC Submission |
043229-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5855 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
53121245-53135109 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 53122746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 53
(G53R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071065]
|
| AlphaFold |
O08750 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071065
AA Change: G53R
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000065363
Gene: ENSMUSG00000056749
AA Change: G53R
| 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 |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
G |
7: 131,026,328 (GRCm39) |
L57R |
probably damaging |
Het |
| Bmpr1b |
G |
A |
3: 141,577,146 (GRCm39) |
T55M |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,829,508 (GRCm39) |
T132I |
probably benign |
Het |
| Cops4 |
A |
T |
5: 100,695,280 (GRCm39) |
M400L |
probably benign |
Het |
| Cul1 |
G |
A |
6: 47,500,147 (GRCm39) |
D653N |
probably benign |
Het |
| Cyp3a13 |
C |
G |
5: 137,917,318 (GRCm39) |
L36F |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,342,558 (GRCm39) |
F131L |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,861,944 (GRCm39) |
|
probably null |
Het |
| Igll1 |
C |
T |
16: 16,678,921 (GRCm39) |
V130M |
probably damaging |
Het |
| Kif2c |
C |
T |
4: 117,039,739 (GRCm39) |
|
probably benign |
Het |
| Klra7 |
T |
C |
6: 130,195,921 (GRCm39) |
D262G |
possibly damaging |
Het |
| Lrrc27 |
T |
C |
7: 138,798,251 (GRCm39) |
|
probably benign |
Het |
| Maf |
A |
G |
8: 116,432,531 (GRCm39) |
S358P |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,134,155 (GRCm39) |
D1419G |
possibly damaging |
Het |
| Map3k1 |
G |
A |
13: 111,892,513 (GRCm39) |
A914V |
probably benign |
Het |
| Naa25 |
T |
G |
5: 121,561,755 (GRCm39) |
L436R |
possibly damaging |
Het |
| Ndc1 |
T |
C |
4: 107,240,904 (GRCm39) |
I294T |
probably damaging |
Het |
| Nek1 |
A |
C |
8: 61,469,306 (GRCm39) |
D121A |
probably damaging |
Het |
| Or10h28 |
T |
C |
17: 33,488,310 (GRCm39) |
V204A |
possibly damaging |
Het |
| Parp14 |
A |
T |
16: 35,661,297 (GRCm39) |
Y1550* |
probably null |
Het |
| Patl1 |
A |
G |
19: 11,898,880 (GRCm39) |
I192V |
probably damaging |
Het |
| Pax3 |
G |
A |
1: 78,098,288 (GRCm39) |
T367I |
probably damaging |
Het |
| Pla2g4a |
C |
T |
1: 149,755,814 (GRCm39) |
V208M |
probably damaging |
Het |
| Prdm10 |
A |
T |
9: 31,248,619 (GRCm39) |
K347M |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,439,699 (GRCm39) |
M376K |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 30,872,094 (GRCm39) |
V219I |
possibly damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,295,074 (GRCm39) |
I1550V |
possibly damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Sox4 |
T |
C |
13: 29,136,979 (GRCm39) |
E9G |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,628,307 (GRCm39) |
D354E |
probably damaging |
Het |
| Stat2 |
T |
A |
10: 128,119,363 (GRCm39) |
L450H |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,741,790 (GRCm39) |
M849K |
probably damaging |
Het |
| Tmem63c |
G |
A |
12: 87,122,500 (GRCm39) |
D433N |
probably damaging |
Het |
| Tnpo3 |
G |
A |
6: 29,589,032 (GRCm39) |
T106I |
probably damaging |
Het |
| Tns1 |
G |
T |
1: 73,957,192 (GRCm39) |
A1674D |
possibly damaging |
Het |
| Trim8 |
T |
C |
19: 46,503,849 (GRCm39) |
V467A |
possibly damaging |
Het |
| Trmo |
T |
A |
4: 46,382,568 (GRCm39) |
H183L |
probably benign |
Het |
| Trpm1 |
C |
A |
7: 63,918,710 (GRCm39) |
C683* |
probably null |
Het |
| Vsig10 |
T |
G |
5: 117,476,335 (GRCm39) |
L263R |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,590,812 (GRCm39) |
Y291N |
probably benign |
Het |
|
| Other mutations in Nfil3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Nfil3
|
APN |
13 |
53,121,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGGCATTTTCTTCTCCCAG -3'
(R):5'- ACTGGGGAAGTGATTTGTCTCC -3'
Sequencing Primer
(F):5'- TCTTCTCCCAGGGCGATCAG -3'
(R):5'- ATCCGGTCTGTAGGACGAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation