Incidental Mutation 'IGL00940:Il4ra'
| ID |
27840 |
| 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 # |
IGL00940
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
125151443-125178646 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 125168347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033004]
[ENSMUST00000033004]
[ENSMUST00000033004]
[ENSMUST00000033004]
[ENSMUST00000205985]
[ENSMUST00000206217]
[ENSMUST00000206846]
|
| AlphaFold |
P16382 |
| Predicted Effect |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 null
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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks1 |
A |
G |
17: 28,276,328 (GRCm39) |
N1024D |
probably damaging |
Het |
| Cts7 |
A |
G |
13: 61,504,723 (GRCm39) |
|
probably null |
Het |
| Dock3 |
T |
A |
9: 106,788,576 (GRCm39) |
|
probably benign |
Het |
| Fbxo6 |
A |
G |
4: 148,230,567 (GRCm39) |
F232L |
probably benign |
Het |
| Hsd3b6 |
A |
T |
3: 98,713,940 (GRCm39) |
F120I |
probably damaging |
Het |
| Irs4 |
A |
T |
X: 140,505,140 (GRCm39) |
F1019I |
unknown |
Het |
| Klc1 |
A |
G |
12: 111,753,932 (GRCm39) |
T464A |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 120,999,371 (GRCm39) |
T660A |
possibly damaging |
Het |
| Ndufs7 |
T |
A |
10: 80,090,955 (GRCm39) |
V158E |
probably damaging |
Het |
| Nhs |
T |
A |
X: 160,620,226 (GRCm39) |
N1510I |
probably damaging |
Het |
| Or51e2 |
A |
G |
7: 102,391,469 (GRCm39) |
V247A |
probably damaging |
Het |
| Or8k38 |
T |
G |
2: 86,488,070 (GRCm39) |
H244P |
probably damaging |
Het |
| Pole2 |
G |
A |
12: 69,262,134 (GRCm39) |
T148I |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,124,126 (GRCm39) |
L267H |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,733 (GRCm39) |
E803G |
probably damaging |
Het |
| Rassf1 |
G |
T |
9: 107,435,510 (GRCm39) |
|
probably benign |
Het |
| Rnf220 |
T |
C |
4: 117,164,872 (GRCm39) |
K210R |
probably benign |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Snd1 |
T |
C |
6: 28,745,174 (GRCm39) |
|
probably benign |
Het |
| Spmip9 |
C |
A |
6: 70,890,372 (GRCm39) |
R140L |
probably benign |
Het |
| Ssb |
T |
A |
2: 69,701,179 (GRCm39) |
|
probably null |
Het |
| Tlr5 |
T |
C |
1: 182,801,761 (GRCm39) |
V355A |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,090,158 (GRCm39) |
R414* |
probably null |
Het |
| Zfyve26 |
A |
G |
12: 79,327,674 (GRCm39) |
S559P |
probably benign |
Het |
|
| Other mutations in Il4ra |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02224:Il4ra
|
APN |
7 |
125,169,271 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-04-17 |
Incidental Mutation