Incidental Mutation 'IGL02224:Il4ra'
| ID |
285288 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Il4ra
|
| Ensembl Gene |
ENSMUSG00000030748 |
| Gene Name |
interleukin 4 receptor, alpha |
| Synonyms |
IL-4 receptor alpha chain, CD124, Il4r |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02224
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
125151443-125178646 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 125169271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145824
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033004]
[ENSMUST00000205985]
[ENSMUST00000206217]
[ENSMUST00000206846]
|
| AlphaFold |
P16382 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033004
|
| SMART Domains |
Protein: ENSMUSP00000033004
Gene: ENSMUSG00000030748
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IL4Ra_N
|
28 |
122 |
9.9e-39 |
PFAM |
|
FN3
|
124 |
211 |
3.14e0 |
SMART |
|
low complexity region
|
369 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
674 |
683 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205394
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205985
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206681
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206846
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]
PHENOTYPE: Nullizygous mice exhibit reduced T helper 2 cell response to N. brasiliensis infection. Homozygotes for a null allele also display severe susceptibility to S. mansoni infection, enhanced carcinogen-induced intestinal tumour initiation, and altered control of chronic Leishmania major infection. [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 |
|---|
| Akr1c12 |
T |
A |
13: 4,329,289 (GRCm39) |
T23S |
probably damaging |
Het |
| Alpk3 |
G |
A |
7: 80,726,616 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,361,810 (GRCm39) |
|
probably benign |
Het |
| Atr |
C |
T |
9: 95,760,682 (GRCm39) |
R1051C |
probably damaging |
Het |
| B4galt2 |
T |
C |
4: 117,734,110 (GRCm39) |
D309G |
probably benign |
Het |
| C130026L21Rik |
A |
G |
5: 111,730,291 (GRCm39) |
|
noncoding transcript |
Het |
| Cadm3 |
A |
G |
1: 173,165,628 (GRCm39) |
I344T |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,924,318 (GRCm39) |
T370A |
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,741,534 (GRCm39) |
S2462T |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,937,332 (GRCm39) |
N739Y |
probably benign |
Het |
| Ensa |
T |
C |
3: 95,535,990 (GRCm39) |
S108P |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,545,281 (GRCm39) |
|
probably null |
Het |
| Fbp1 |
T |
A |
13: 63,035,821 (GRCm39) |
T13S |
probably damaging |
Het |
| Flrt2 |
C |
A |
12: 95,746,802 (GRCm39) |
T380K |
possibly damaging |
Het |
| Gpatch11 |
T |
C |
17: 79,148,522 (GRCm39) |
|
probably benign |
Het |
| Hagh |
A |
G |
17: 25,071,861 (GRCm39) |
D29G |
probably damaging |
Het |
| Hmmr |
T |
C |
11: 40,600,831 (GRCm39) |
Q513R |
unknown |
Het |
| Hoxb8 |
T |
C |
11: 96,173,981 (GRCm39) |
S65P |
probably benign |
Het |
| Lbp |
A |
G |
2: 158,148,669 (GRCm39) |
N27S |
probably damaging |
Het |
| Msh4 |
G |
A |
3: 153,595,822 (GRCm39) |
T76I |
possibly damaging |
Het |
| Nfat5 |
T |
C |
8: 108,071,447 (GRCm39) |
V281A |
probably benign |
Het |
| Or10ag53 |
C |
T |
2: 87,082,821 (GRCm39) |
S180F |
probably benign |
Het |
| Or13c25 |
A |
T |
4: 52,911,392 (GRCm39) |
V134D |
probably damaging |
Het |
| Or4p20 |
C |
T |
2: 88,254,052 (GRCm39) |
|
probably null |
Het |
| Or5b106 |
T |
A |
19: 13,123,120 (GRCm39) |
K301M |
probably damaging |
Het |
| Or5w16 |
T |
A |
2: 87,576,757 (GRCm39) |
C72* |
probably null |
Het |
| Phf11b |
A |
T |
14: 59,563,515 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,962,575 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,549,064 (GRCm39) |
F66L |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,538,459 (GRCm39) |
H108R |
probably damaging |
Het |
| Spta1 |
C |
A |
1: 174,045,255 (GRCm39) |
|
probably benign |
Het |
| Tmem87b |
A |
G |
2: 128,676,127 (GRCm39) |
I297V |
possibly damaging |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,068 (GRCm39) |
R229G |
probably damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,174,960 (GRCm39) |
R524* |
probably null |
Het |
| Washc2 |
T |
A |
6: 116,197,530 (GRCm39) |
D254E |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp773 |
T |
C |
7: 7,135,975 (GRCm39) |
H207R |
probably benign |
Het |
|
| Other mutations in Il4ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00940:Il4ra
|
APN |
7 |
125,168,347 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01067:Il4ra
|
APN |
7 |
125,174,333 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01107:Il4ra
|
APN |
7 |
125,175,086 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02249:Il4ra
|
APN |
7 |
125,166,396 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02383:Il4ra
|
APN |
7 |
125,170,676 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02614:Il4ra
|
APN |
7 |
125,174,962 (GRCm39) |
nonsense |
probably null |
|
|
IGL02879:Il4ra
|
APN |
7 |
125,176,069 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Haile
|
UTSW |
7 |
125,173,889 (GRCm39) |
critical splice donor site |
probably null |
|
|
Lowe
|
UTSW |
7 |
125,166,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB006:Il4ra
|
UTSW |
7 |
125,174,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB016:Il4ra
|
UTSW |
7 |
125,174,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02991:Il4ra
|
UTSW |
7 |
125,174,833 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
PIT4418001:Il4ra
|
UTSW |
7 |
125,175,510 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0066:Il4ra
|
UTSW |
7 |
125,175,403 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0127:Il4ra
|
UTSW |
7 |
125,168,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Il4ra
|
UTSW |
7 |
125,174,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Il4ra
|
UTSW |
7 |
125,174,371 (GRCm39) |
splice site |
probably benign |
|
|
R0239:Il4ra
|
UTSW |
7 |
125,174,371 (GRCm39) |
splice site |
probably benign |
|
|
R0884:Il4ra
|
UTSW |
7 |
125,173,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1102:Il4ra
|
UTSW |
7 |
125,173,889 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1622:Il4ra
|
UTSW |
7 |
125,169,225 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1773:Il4ra
|
UTSW |
7 |
125,166,354 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4510:Il4ra
|
UTSW |
7 |
125,175,280 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4511:Il4ra
|
UTSW |
7 |
125,175,280 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4612:Il4ra
|
UTSW |
7 |
125,175,255 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5865:Il4ra
|
UTSW |
7 |
125,174,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5996:Il4ra
|
UTSW |
7 |
125,166,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Il4ra
|
UTSW |
7 |
125,170,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6246:Il4ra
|
UTSW |
7 |
125,175,577 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7218:Il4ra
|
UTSW |
7 |
125,174,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7624:Il4ra
|
UTSW |
7 |
125,168,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Il4ra
|
UTSW |
7 |
125,164,845 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7929:Il4ra
|
UTSW |
7 |
125,174,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8360:Il4ra
|
UTSW |
7 |
125,169,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9573:Il4ra
|
UTSW |
7 |
125,169,158 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2015-04-16 |
Incidental Mutation