Incidental Mutation 'R6406:Ilf3'
| ID |
516309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ilf3
|
| Ensembl Gene |
ENSMUSG00000032178 |
| Gene Name |
interleukin enhancer binding factor 3 |
| Synonyms |
NF90 |
| MMRRC Submission |
044551-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6406 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
21279167-21316657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 21307540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 379
(A379V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067646]
[ENSMUST00000115414]
[ENSMUST00000213518]
[ENSMUST00000213603]
[ENSMUST00000214758]
[ENSMUST00000216892]
[ENSMUST00000214852]
[ENSMUST00000217348]
|
| AlphaFold |
Q9Z1X4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067646
AA Change: A366V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065770
Gene: ENSMUSG00000032178
AA Change: A366V
| 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: A366V
PolyPhen 2
Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111074
Gene: ENSMUSG00000032178
AA Change: A366V
| 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 |
possibly damaging
Transcript: ENSMUST00000213518
AA Change: A379V
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213603
AA Change: A379V
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214217
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214758
AA Change: A379V
PolyPhen 2
Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214821
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216892
AA Change: A379V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214852
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217348
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215169
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215438
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217498
|
| Meta Mutation Damage Score |
0.0731 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
96% (48/50) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,817,865 (GRCm39) |
P29L |
probably benign |
Het |
| Acsm1 |
A |
G |
7: 119,261,484 (GRCm39) |
N567S |
probably benign |
Het |
| Ahi1 |
T |
G |
10: 20,852,948 (GRCm39) |
N505K |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,825,874 (GRCm39) |
D356V |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Bpifb6 |
C |
A |
2: 153,746,457 (GRCm39) |
T117K |
possibly damaging |
Het |
| C2cd6 |
T |
C |
1: 59,097,835 (GRCm39) |
E418G |
possibly damaging |
Het |
| Cbx1 |
A |
T |
11: 96,692,364 (GRCm39) |
K84* |
probably null |
Het |
| Cr2 |
A |
G |
1: 194,852,079 (GRCm39) |
L90P |
probably damaging |
Het |
| Dclk1 |
A |
G |
3: 55,387,827 (GRCm39) |
D91G |
probably damaging |
Het |
| Dock1 |
C |
A |
7: 134,747,215 (GRCm39) |
Q1509K |
probably benign |
Het |
| Fzd1 |
T |
G |
5: 4,806,089 (GRCm39) |
T498P |
probably damaging |
Het |
| Galnt12 |
A |
G |
4: 47,122,534 (GRCm39) |
N271S |
probably benign |
Het |
| Gm12888 |
A |
G |
4: 121,176,654 (GRCm39) |
I49T |
possibly damaging |
Het |
| Gria4 |
A |
T |
9: 4,427,077 (GRCm39) |
W788R |
probably damaging |
Het |
| Islr2 |
A |
G |
9: 58,107,263 (GRCm39) |
V43A |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,929,563 (GRCm39) |
N782I |
probably damaging |
Het |
| Klhl8 |
T |
A |
5: 104,010,981 (GRCm39) |
I539F |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,839,257 (GRCm39) |
C750* |
probably null |
Het |
| Lrrc37a |
T |
A |
11: 103,388,361 (GRCm39) |
T2355S |
unknown |
Het |
| Lrrc8a |
A |
G |
2: 30,147,103 (GRCm39) |
H639R |
possibly damaging |
Het |
| Map1a |
A |
T |
2: 121,131,224 (GRCm39) |
D442V |
probably damaging |
Het |
| Mier3 |
T |
C |
13: 111,846,343 (GRCm39) |
|
probably null |
Het |
| Msantd1 |
C |
A |
5: 35,080,665 (GRCm39) |
|
probably null |
Het |
| Ncapd2 |
C |
A |
6: 125,150,841 (GRCm39) |
A785S |
probably benign |
Het |
| Ncbp2 |
CTCGTCTGG |
C |
16: 31,775,159 (GRCm39) |
|
probably null |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Ndst4 |
T |
C |
3: 125,232,150 (GRCm39) |
S240P |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,385,946 (GRCm39) |
D17G |
probably damaging |
Het |
| Nkx6-1 |
C |
T |
5: 101,811,677 (GRCm39) |
A142T |
unknown |
Het |
| Nt5dc1 |
T |
C |
10: 34,200,404 (GRCm39) |
H205R |
probably benign |
Het |
| Or5b94 |
T |
C |
19: 12,652,184 (GRCm39) |
I205T |
probably benign |
Het |
| Or9g3 |
T |
A |
2: 85,590,651 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Pafah1b1 |
A |
G |
11: 74,573,098 (GRCm39) |
M322T |
probably benign |
Het |
| Parp2 |
A |
G |
14: 51,056,934 (GRCm39) |
N353D |
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,503,412 (GRCm39) |
N452S |
possibly damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,762,586 (GRCm39) |
V1397A |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,535,665 (GRCm39) |
L1675Q |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,395,703 (GRCm39) |
I1157V |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,133 (GRCm39) |
|
probably benign |
Het |
| Sele |
G |
T |
1: 163,878,312 (GRCm39) |
C217F |
probably damaging |
Het |
| Spats1 |
T |
A |
17: 45,768,191 (GRCm39) |
H125L |
probably damaging |
Het |
| Stard3 |
T |
C |
11: 98,269,595 (GRCm39) |
V330A |
probably benign |
Het |
| Synj2 |
T |
A |
17: 6,069,846 (GRCm39) |
|
probably benign |
Het |
| Thoc1 |
T |
A |
18: 9,977,963 (GRCm39) |
F301L |
probably damaging |
Het |
| Thumpd3 |
G |
A |
6: 113,032,924 (GRCm39) |
E221K |
probably damaging |
Het |
| Trim61 |
T |
C |
8: 65,466,377 (GRCm39) |
T295A |
possibly damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,101,093 (GRCm39) |
Q35R |
probably damaging |
Het |
| Tsnaxip1 |
C |
T |
8: 106,570,615 (GRCm39) |
T578I |
probably benign |
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 |
|
|
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 |
|
R7720:Ilf3
|
UTSW |
9 |
21,310,833 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
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'- AGCCGAGTCAGACTTTCTTCC -3'
(R):5'- TCCTAACAACTTCCAGGTGC -3'
Sequencing Primer
(F):5'- TGGTCAACTCCATAAAGTACTGGG -3'
(R):5'- ACTTCCAGGTGCACAGTCACTG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation