Incidental Mutation 'R4018:Il4'
| ID |
475123 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Il4
|
| Ensembl Gene |
ENSMUSG00000000869 |
| Gene Name |
interleukin 4 |
| Synonyms |
Il-4 |
| MMRRC Submission |
040848-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4018 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
53503287-53509492 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to A
at 53504806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134414
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000889]
[ENSMUST00000140684]
[ENSMUST00000150568]
|
| AlphaFold |
P07750 |
| Predicted Effect |
silent
Transcript: ENSMUST00000000889
|
| SMART Domains |
Protein: ENSMUSP00000000889
Gene: ENSMUSG00000000869
| Domain | Start | End | E-Value | Type |
|---|
|
IL4_13
|
1 |
140 |
6.04e-86 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127858
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140684
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150568
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a pleiotropic cytokine produced by activated T cells. This cytokine is a ligand for interleukin 4 receptor. The interleukin 4 receptor also binds to IL13, which may contribute to many overlapping functions of this cytokine and IL13. STAT6, a signal transducer and activator of transcription, has been shown to play a central role in mediating the immune regulatory signal of this cytokine. This gene, IL3, IL5, IL13, and CSF2 form a cytokine gene cluster on chromosome 5q, with this gene particularly close to IL13. This gene, IL13 and IL5 are found to be regulated coordinately by several long-range regulatory elements in an over 120 kilobase range on the chromosome. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for knock-out alleles exhibit defects in immune system morphology and physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aga |
A |
G |
8: 53,976,226 (GRCm39) |
K319R |
probably benign |
Het |
| Brip1 |
G |
T |
11: 86,029,677 (GRCm39) |
T619K |
possibly damaging |
Het |
| Cd300ld2 |
G |
T |
11: 114,903,330 (GRCm39) |
|
probably benign |
Het |
| Cd300lg |
A |
G |
11: 101,932,420 (GRCm39) |
R2G |
probably damaging |
Het |
| Celsr2 |
C |
T |
3: 108,302,281 (GRCm39) |
V2616I |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,517 (GRCm39) |
I1160V |
probably benign |
Het |
| Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
| Endou |
T |
A |
15: 97,616,818 (GRCm39) |
K235M |
probably damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,995 (GRCm39) |
N309I |
probably damaging |
Het |
| Iws1 |
C |
A |
18: 32,203,205 (GRCm39) |
S27* |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 910,441 (GRCm39) |
|
probably benign |
Het |
| Ldb3 |
T |
C |
14: 34,274,128 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
A |
G |
11: 115,738,438 (GRCm39) |
T284A |
probably benign |
Het |
| Maml1 |
A |
T |
11: 50,156,611 (GRCm39) |
N521K |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,161,526 (GRCm39) |
Y482H |
probably damaging |
Het |
| Notch2 |
G |
T |
3: 98,011,881 (GRCm39) |
C633F |
probably damaging |
Het |
| Oc90 |
T |
C |
15: 65,759,457 (GRCm39) |
D232G |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,189 (GRCm39) |
E168G |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,885 (GRCm39) |
Y1717C |
unknown |
Het |
| Prkca |
T |
A |
11: 107,830,428 (GRCm39) |
I221F |
probably damaging |
Het |
| Rab3c |
T |
A |
13: 110,220,728 (GRCm39) |
K144N |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,933,300 (GRCm39) |
N57I |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,764,068 (GRCm39) |
T145A |
possibly damaging |
Het |
| Septin4 |
G |
A |
11: 87,475,947 (GRCm39) |
R162Q |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,295,850 (GRCm39) |
L127H |
probably damaging |
Het |
| Slc9a9 |
T |
C |
9: 94,567,216 (GRCm39) |
V95A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,844,255 (GRCm39) |
I279V |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,893 (GRCm39) |
I314V |
probably benign |
Het |
|
| Other mutations in Il4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02282:Il4
|
APN |
11 |
53,509,001 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02368:Il4
|
APN |
11 |
53,503,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Il4
|
UTSW |
11 |
53,504,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0449:Il4
|
UTSW |
11 |
53,509,432 (GRCm39) |
start codon destroyed |
probably null |
0.86 |
|
R1801:Il4
|
UTSW |
11 |
53,509,365 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6429:Il4
|
UTSW |
11 |
53,504,736 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9388:Il4
|
UTSW |
11 |
53,504,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9389:Il4
|
UTSW |
11 |
53,504,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9390:Il4
|
UTSW |
11 |
53,504,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9544:Il4
|
UTSW |
11 |
53,504,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9545:Il4
|
UTSW |
11 |
53,504,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
|
| Posted On |
2017-04-14 |
Incidental Mutation