Incidental Mutation 'R7720:Ilf3'
| ID |
595179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ilf3
|
| Ensembl Gene |
ENSMUSG00000032178 |
| Gene Name |
interleukin enhancer binding factor 3 |
| Synonyms |
NF90 |
| MMRRC Submission |
067892-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21279167-21316657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21310833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 599
(N599S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067646]
[ENSMUST00000115414]
[ENSMUST00000213518]
[ENSMUST00000213603]
[ENSMUST00000214758]
[ENSMUST00000216892]
[ENSMUST00000217348]
|
| AlphaFold |
Q9Z1X4 |
| PDB Structure |
Crystal structure of the NF90-NF45 dimerisation domain complex [X-RAY DIFFRACTION]
Crystal structure of the NF90-NF45 dimerisation domain complex with ATP [X-RAY DIFFRACTION]
Crystal structure of the NF90-NF45 dimerisation domain complex with UTP [X-RAY DIFFRACTION]
Crystal structure of the NF90-NF45 dimerisation domain complex with CTP [X-RAY DIFFRACTION]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067646
AA Change: N599S
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000065770
Gene: ENSMUSG00000032178
AA Change: N599S
| Domain | Start | End | E-Value | Type |
|---|
|
DZF
|
88 |
342 |
3.87e-166 |
SMART |
|
low complexity region
|
375 |
396 |
N/A |
INTRINSIC |
|
DSRM
|
402 |
466 |
2.2e-16 |
SMART |
|
low complexity region
|
490 |
508 |
N/A |
INTRINSIC |
|
DSRM
|
525 |
589 |
2.73e-21 |
SMART |
|
low complexity region
|
638 |
688 |
N/A |
INTRINSIC |
|
low complexity region
|
691 |
725 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
769 |
N/A |
INTRINSIC |
|
low complexity region
|
777 |
807 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
886 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115414
AA Change: N599S
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000111074
Gene: ENSMUSG00000032178
AA Change: N599S
| Domain | Start | End | E-Value | Type |
|---|
|
DZF
|
88 |
342 |
3.87e-166 |
SMART |
|
low complexity region
|
375 |
396 |
N/A |
INTRINSIC |
|
DSRM
|
402 |
466 |
2.2e-16 |
SMART |
|
low complexity region
|
490 |
508 |
N/A |
INTRINSIC |
|
DSRM
|
525 |
589 |
2.73e-21 |
SMART |
|
low complexity region
|
638 |
688 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213518
AA Change: N612S
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213603
AA Change: N612S
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214758
AA Change: N612S
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214821
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216892
AA Change: N612S
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217348
AA Change: N74S
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217498
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene contains two double-stranded RNA binding domains and functions in the post-transcriptional regulation of gene expression. It is a component of an RNA-protein complex that may be involved in mediating the export of messenger RNAs. Alternative splicing results in multiple transcript variants encoding distinct isoforms. These isoforms are grouped into two categories, NFAR-1 or NFAR-2, based on variation at the C-terminus. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are born small and weak, show tachypnea and multi-organ apoptosis, and die neonatally due to neuromuscular respiratory failure. The diaphragm and other skeletal muscles show disorganization and paucity of myofibers,myocyte degeneration and elevated apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
A |
G |
10: 126,926,957 (GRCm39) |
D1018G |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,433,539 (GRCm39) |
N237S |
possibly damaging |
Het |
| Card6 |
G |
T |
15: 5,127,905 (GRCm39) |
Q1164K |
unknown |
Het |
| Ccdc202 |
A |
G |
14: 96,119,548 (GRCm39) |
R102G |
probably benign |
Het |
| Cped1 |
G |
A |
6: 22,222,430 (GRCm39) |
C730Y |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,981,108 (GRCm39) |
L2770Q |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,072 (GRCm39) |
T87A |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,856,974 (GRCm39) |
I1269T |
probably damaging |
Het |
| F11 |
T |
C |
8: 45,705,127 (GRCm39) |
E138G |
possibly damaging |
Het |
| Fam124b |
A |
G |
1: 80,177,974 (GRCm39) |
S342P |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,758,907 (GRCm39) |
S76P |
probably damaging |
Het |
| Gipr |
T |
C |
7: 18,896,884 (GRCm39) |
I129V |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,464,288 (GRCm39) |
V558D |
probably damaging |
Het |
| Gsdme |
C |
T |
6: 50,206,288 (GRCm39) |
G185E |
probably damaging |
Het |
| Hapstr1 |
T |
A |
16: 8,660,966 (GRCm39) |
C148S |
probably damaging |
Het |
| Hgd |
T |
A |
16: 37,413,797 (GRCm39) |
D86E |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,522,460 (GRCm39) |
H3480L |
probably benign |
Het |
| Hs2st1 |
T |
C |
3: 144,159,783 (GRCm39) |
N127D |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,664,971 (GRCm39) |
G1132R |
unknown |
Het |
| Jakmip2 |
A |
G |
18: 43,704,973 (GRCm39) |
S343P |
possibly damaging |
Het |
| Kif1b |
A |
G |
4: 149,266,812 (GRCm39) |
V1670A |
probably benign |
Het |
| Lman2 |
A |
T |
13: 55,500,890 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
A |
T |
17: 75,692,119 (GRCm39) |
Y1579F |
probably damaging |
Het |
| Mon2 |
G |
A |
10: 122,868,493 (GRCm39) |
A520V |
probably benign |
Het |
| Mrpl10 |
T |
G |
11: 96,938,363 (GRCm39) |
V171G |
possibly damaging |
Het |
| Mrps27 |
A |
T |
13: 99,537,838 (GRCm39) |
T153S |
unknown |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Nlrp10 |
A |
G |
7: 108,523,695 (GRCm39) |
V595A |
probably benign |
Het |
| Nol4 |
A |
T |
18: 23,173,080 (GRCm39) |
M7K |
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,067,980 (GRCm39) |
S188N |
probably damaging |
Het |
| Or2d3c |
C |
A |
7: 106,526,618 (GRCm39) |
G16V |
probably benign |
Het |
| Or5h25 |
T |
C |
16: 58,930,134 (GRCm39) |
I280V |
probably benign |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,993 (GRCm39) |
Y279C |
probably damaging |
Het |
| Pfpl |
C |
T |
19: 12,406,538 (GRCm39) |
A263V |
probably benign |
Het |
| Phf3 |
T |
G |
1: 30,868,938 (GRCm39) |
K703N |
probably damaging |
Het |
| Pik3ca |
C |
G |
3: 32,490,367 (GRCm39) |
P5A |
probably damaging |
Het |
| Plekha6 |
T |
C |
1: 133,221,445 (GRCm39) |
V987A |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,596,250 (GRCm39) |
I305N |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,252,161 (GRCm39) |
K1069E |
possibly damaging |
Het |
| Prss50 |
T |
C |
9: 110,690,403 (GRCm39) |
V182A |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,211,703 (GRCm38) |
N995S |
probably benign |
Het |
| Robo2 |
C |
A |
16: 73,693,903 (GRCm39) |
G1375V |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,560,864 (GRCm39) |
Y325C |
possibly damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,585,178 (GRCm39) |
D244G |
probably benign |
Het |
| Shcbp1 |
A |
C |
8: 4,798,720 (GRCm39) |
S400A |
probably damaging |
Het |
| Shfl |
C |
T |
9: 20,780,155 (GRCm39) |
|
probably benign |
Het |
| Sirpb1c |
T |
A |
3: 15,886,236 (GRCm39) |
Y380F |
probably benign |
Het |
| Tbl2 |
G |
C |
5: 135,188,329 (GRCm39) |
L374F |
probably damaging |
Het |
| Tpr |
C |
A |
1: 150,305,283 (GRCm39) |
A1524E |
possibly damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,460 (GRCm39) |
E276V |
probably damaging |
Het |
| Vps16 |
C |
T |
2: 130,283,623 (GRCm39) |
Q606* |
probably null |
Het |
| Vstm5 |
A |
T |
9: 15,150,652 (GRCm39) |
Q29L |
probably benign |
Het |
| Wipi1 |
G |
T |
11: 109,473,249 (GRCm39) |
S250Y |
probably damaging |
Het |
|
| Other mutations in Ilf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Ilf3
|
APN |
9 |
21,307,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01013:Ilf3
|
APN |
9 |
21,310,987 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01352:Ilf3
|
APN |
9 |
21,303,618 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01975:Ilf3
|
APN |
9 |
21,303,675 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02826:Ilf3
|
APN |
9 |
21,309,340 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03238:Ilf3
|
APN |
9 |
21,303,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4466001:Ilf3
|
UTSW |
9 |
21,314,662 (GRCm39) |
missense |
unknown |
|
|
R0047:Ilf3
|
UTSW |
9 |
21,300,010 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0047:Ilf3
|
UTSW |
9 |
21,300,010 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0090:Ilf3
|
UTSW |
9 |
21,306,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0355:Ilf3
|
UTSW |
9 |
21,309,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1768:Ilf3
|
UTSW |
9 |
21,314,438 (GRCm39) |
unclassified |
probably benign |
|
|
R1889:Ilf3
|
UTSW |
9 |
21,316,063 (GRCm39) |
unclassified |
probably benign |
|
|
R1895:Ilf3
|
UTSW |
9 |
21,316,063 (GRCm39) |
unclassified |
probably benign |
|
|
R1918:Ilf3
|
UTSW |
9 |
21,305,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2930:Ilf3
|
UTSW |
9 |
21,310,886 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3912:Ilf3
|
UTSW |
9 |
21,309,422 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3913:Ilf3
|
UTSW |
9 |
21,309,422 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4080:Ilf3
|
UTSW |
9 |
21,314,430 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4412:Ilf3
|
UTSW |
9 |
21,310,856 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4510:Ilf3
|
UTSW |
9 |
21,310,511 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4511:Ilf3
|
UTSW |
9 |
21,310,511 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5201:Ilf3
|
UTSW |
9 |
21,300,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5785:Ilf3
|
UTSW |
9 |
21,306,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6303:Ilf3
|
UTSW |
9 |
21,314,432 (GRCm39) |
unclassified |
probably benign |
|
|
R6406:Ilf3
|
UTSW |
9 |
21,307,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6434:Ilf3
|
UTSW |
9 |
21,314,447 (GRCm39) |
unclassified |
probably benign |
|
|
R7169:Ilf3
|
UTSW |
9 |
21,306,722 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7410:Ilf3
|
UTSW |
9 |
21,311,100 (GRCm39) |
missense |
unknown |
|
|
R7468:Ilf3
|
UTSW |
9 |
21,314,707 (GRCm39) |
missense |
unknown |
|
|
R7624:Ilf3
|
UTSW |
9 |
21,309,340 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8513:Ilf3
|
UTSW |
9 |
21,299,932 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9056:Ilf3
|
UTSW |
9 |
21,314,434 (GRCm39) |
nonsense |
probably null |
|
|
R9317:Ilf3
|
UTSW |
9 |
21,307,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9522:Ilf3
|
UTSW |
9 |
21,305,533 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0066:Ilf3
|
UTSW |
9 |
21,303,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAGAAAGGCTTTGGGGATAG -3'
(R):5'- ACTTCATTATGCATGGGGCC -3'
Sequencing Primer
(F):5'- CTTTGGGGATAGGCTCTCACC -3'
(R):5'- CTCCCATGCCAAAACCAGGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation