Incidental Mutation 'R8394:Nfil3'
ID |
647538 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfil3
|
Ensembl Gene |
ENSMUSG00000056749 |
Gene Name |
nuclear factor, interleukin 3, regulated |
Synonyms |
E4BP4 |
MMRRC Submission |
067758-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8394 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
53121245-53135109 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53121849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 352
(S352P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071065]
|
AlphaFold |
O08750 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071065
AA Change: S352P
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000065363 Gene: ENSMUSG00000056749 AA Change: S352P
Domain | Start | End | E-Value | Type |
BRLZ
|
71 |
135 |
2.84e-5 |
SMART |
low complexity region
|
182 |
196 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
T |
C |
14: 59,379,623 (GRCm39) |
N137S |
probably benign |
Het |
4930505A04Rik |
T |
A |
11: 30,404,880 (GRCm39) |
|
probably null |
Het |
Abcc8 |
A |
G |
7: 45,803,977 (GRCm39) |
I399T |
probably benign |
Het |
Aldh3b2 |
A |
C |
19: 4,029,461 (GRCm39) |
Q278P |
probably benign |
Het |
Arl8b |
A |
G |
6: 108,760,244 (GRCm39) |
D10G |
possibly damaging |
Het |
Baiap3 |
T |
C |
17: 25,469,096 (GRCm39) |
N229S |
probably benign |
Het |
Chrdl2 |
T |
C |
7: 99,666,292 (GRCm39) |
S71P |
possibly damaging |
Het |
Cmbl |
A |
G |
15: 31,585,541 (GRCm39) |
M142V |
possibly damaging |
Het |
Cpt1b |
A |
G |
15: 89,306,490 (GRCm39) |
|
probably null |
Het |
Crybg3 |
T |
C |
16: 59,378,651 (GRCm39) |
K868E |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,411,986 (GRCm39) |
I792V |
probably benign |
Het |
Evx2 |
A |
G |
2: 74,486,321 (GRCm39) |
L356S |
probably benign |
Het |
Hspa14 |
C |
T |
2: 3,513,670 (GRCm39) |
|
probably null |
Het |
Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
Il7r |
A |
G |
15: 9,516,504 (GRCm39) |
F99S |
probably damaging |
Het |
Klra2 |
A |
T |
6: 131,222,273 (GRCm39) |
V6D |
possibly damaging |
Het |
Lce3c |
T |
C |
3: 92,852,760 (GRCm39) |
S74P |
unknown |
Het |
Nectin2 |
C |
T |
7: 19,467,137 (GRCm39) |
|
probably null |
Het |
Nme6 |
T |
A |
9: 109,664,394 (GRCm39) |
M1K |
probably null |
Het |
Or52z13 |
A |
T |
7: 103,247,404 (GRCm39) |
I294F |
probably damaging |
Het |
Otogl |
A |
G |
10: 107,722,326 (GRCm39) |
|
probably null |
Het |
Plcb1 |
T |
C |
2: 135,159,710 (GRCm39) |
V391A |
probably damaging |
Het |
Ptf1a |
T |
A |
2: 19,450,746 (GRCm39) |
D25E |
probably damaging |
Het |
Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
Scube1 |
T |
C |
15: 83,492,492 (GRCm39) |
Y944C |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,729,542 (GRCm39) |
I1039T |
probably benign |
Het |
Senp7 |
G |
T |
16: 55,990,190 (GRCm39) |
W646L |
possibly damaging |
Het |
Sphkap |
A |
T |
1: 83,253,797 (GRCm39) |
N1317K |
probably benign |
Het |
Strc |
G |
T |
2: 121,209,490 (GRCm39) |
Q278K |
probably benign |
Het |
Tbc1d30 |
T |
A |
10: 121,183,013 (GRCm39) |
R142* |
probably null |
Het |
Tmtc3 |
T |
C |
10: 100,282,808 (GRCm39) |
I916V |
probably damaging |
Het |
Tomm40l |
A |
T |
1: 171,048,776 (GRCm39) |
H79Q |
probably damaging |
Het |
Txndc12 |
T |
A |
4: 108,713,420 (GRCm39) |
|
probably null |
Het |
Vmn2r2 |
T |
C |
3: 64,044,858 (GRCm39) |
N96S |
probably damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,168,776 (GRCm39) |
T785A |
possibly damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp462 |
A |
G |
4: 55,011,862 (GRCm39) |
D1276G |
probably damaging |
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 |
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 |
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'- AGCTTCGGAAACCTTATAGCCAC -3'
(R):5'- TAAGGGCCCCATCCATTCTC -3'
Sequencing Primer
(F):5'- ACACCTGTTTTGAAGCTACTCTGAG -3'
(R):5'- TCCAGTGGAGCTGCAACG -3'
|
Posted On |
2020-09-02 |