Incidental Mutation 'R5002:Nfil3'
ID |
390008 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfil3
|
Ensembl Gene |
ENSMUSG00000056749 |
Gene Name |
nuclear factor, interleukin 3, regulated |
Synonyms |
E4BP4 |
MMRRC Submission |
042596-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5002 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
53121245-53135109 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 53122712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 64
(R64L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071065]
|
AlphaFold |
O08750 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071065
AA Change: R64L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000065363 Gene: ENSMUSG00000056749 AA Change: R64L
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
|
Meta Mutation Damage Score |
0.9256 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
94% (44/47) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
A |
11: 109,852,623 (GRCm39) |
P736S |
probably damaging |
Het |
Apbb2 |
A |
G |
5: 66,470,668 (GRCm39) |
I523T |
possibly damaging |
Het |
Casq1 |
T |
A |
1: 172,040,945 (GRCm39) |
D281V |
possibly damaging |
Het |
Catsperb |
T |
C |
12: 101,486,813 (GRCm39) |
F447L |
probably benign |
Het |
Cenpe |
A |
T |
3: 134,952,842 (GRCm39) |
M1511L |
probably benign |
Het |
Cep128 |
T |
C |
12: 91,222,497 (GRCm39) |
|
probably null |
Het |
Col6a6 |
T |
C |
9: 105,663,292 (GRCm39) |
T82A |
probably benign |
Het |
Dna2 |
A |
G |
10: 62,786,621 (GRCm39) |
D123G |
probably damaging |
Het |
Ergic2 |
A |
G |
6: 148,085,656 (GRCm39) |
I281T |
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,785,528 (GRCm39) |
|
probably null |
Het |
Filip1l |
T |
C |
16: 57,391,466 (GRCm39) |
Y447H |
probably benign |
Het |
Flnb |
T |
A |
14: 7,945,882 (GRCm38) |
M2429K |
probably damaging |
Het |
Fn1 |
T |
A |
1: 71,668,887 (GRCm39) |
Q686L |
possibly damaging |
Het |
Gm10644 |
T |
C |
8: 84,660,216 (GRCm39) |
D43G |
possibly damaging |
Het |
Gm10717 |
A |
G |
9: 3,025,532 (GRCm39) |
Y39C |
probably benign |
Het |
Gpx6 |
A |
G |
13: 21,497,858 (GRCm39) |
Y43C |
probably damaging |
Het |
Hhat |
A |
T |
1: 192,225,498 (GRCm39) |
F494I |
probably benign |
Het |
Itga9 |
C |
A |
9: 118,492,966 (GRCm39) |
S287* |
probably null |
Het |
Lrrk1 |
C |
A |
7: 65,982,111 (GRCm39) |
G177W |
probably damaging |
Het |
Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
Ms4a14 |
T |
C |
19: 11,281,653 (GRCm39) |
I302V |
probably benign |
Het |
Nepn |
A |
C |
10: 52,267,850 (GRCm39) |
M39L |
probably benign |
Het |
Ociad1 |
T |
C |
5: 73,467,659 (GRCm39) |
V199A |
possibly damaging |
Het |
Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
Or8k3b |
C |
A |
2: 86,520,429 (GRCm39) |
V297L |
possibly damaging |
Het |
Polk |
A |
G |
13: 96,625,752 (GRCm39) |
Y431H |
probably damaging |
Het |
Prss33 |
C |
T |
17: 24,054,332 (GRCm39) |
|
probably benign |
Het |
Semp2l2b |
G |
C |
10: 21,943,716 (GRCm39) |
P88R |
probably damaging |
Het |
Slc12a7 |
A |
G |
13: 73,911,896 (GRCm39) |
N4S |
possibly damaging |
Het |
Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
Smarce1 |
T |
C |
11: 99,115,889 (GRCm39) |
N44S |
probably damaging |
Het |
Spast |
C |
T |
17: 74,676,221 (GRCm39) |
Q344* |
probably null |
Het |
Stk11ip |
C |
A |
1: 75,509,187 (GRCm39) |
|
probably benign |
Het |
Tas2r131 |
T |
C |
6: 132,934,114 (GRCm39) |
I232V |
probably benign |
Het |
Tesk1 |
T |
C |
4: 43,444,573 (GRCm39) |
Y126H |
probably damaging |
Het |
Tmpo |
A |
G |
10: 90,999,976 (GRCm39) |
V164A |
possibly damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vwc2l |
T |
G |
1: 70,768,205 (GRCm39) |
C43G |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,914,924 (GRCm39) |
T1626I |
probably benign |
Het |
Zpld2 |
T |
A |
4: 133,924,231 (GRCm39) |
N438I |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCCGTGGAGCTAATTAAAC -3'
(R):5'- TCCTTTCTGATGCAGCTGAG -3'
Sequencing Primer
(F):5'- CTTTAATTTCAGGGAGAGCAGCTCAG -3'
(R):5'- CCTTTCTGATGCAGCTGAGAAAAATG -3'
|
Posted On |
2016-06-06 |