Incidental Mutation 'IGL01067:Il4ra'
ID |
51439 |
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 # |
IGL01067
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
125151443-125178646 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125174333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 292
(T292A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000033004
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033004]
[ENSMUST00000206846]
|
AlphaFold |
P16382 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033004
AA Change: T292A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000033004 Gene: ENSMUSG00000030748 AA Change: T292A
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 |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
A330008L17Rik |
T |
C |
8: 100,148,586 (GRCm39) |
|
noncoding transcript |
Het |
Acp4 |
C |
T |
7: 43,902,876 (GRCm39) |
V331I |
probably benign |
Het |
Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
Alg6 |
T |
C |
4: 99,629,807 (GRCm39) |
V128A |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,686,026 (GRCm39) |
K280E |
probably damaging |
Het |
Bfar |
T |
C |
16: 13,503,105 (GRCm39) |
C36R |
probably damaging |
Het |
Car14 |
A |
G |
3: 95,806,128 (GRCm39) |
I311T |
probably damaging |
Het |
Cd300c |
T |
C |
11: 114,851,253 (GRCm39) |
|
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,383,096 (GRCm39) |
E513V |
probably damaging |
Het |
Clip1 |
C |
A |
5: 123,768,867 (GRCm39) |
K612N |
probably damaging |
Het |
Depdc5 |
A |
G |
5: 33,056,411 (GRCm39) |
|
probably null |
Het |
Dock3 |
A |
T |
9: 106,959,572 (GRCm39) |
|
probably null |
Het |
Dph6 |
A |
T |
2: 114,478,290 (GRCm39) |
M17K |
probably damaging |
Het |
Enkur |
T |
C |
2: 21,194,042 (GRCm39) |
Q177R |
probably benign |
Het |
Faap100 |
T |
C |
11: 120,262,958 (GRCm39) |
H800R |
probably damaging |
Het |
Fastkd2 |
T |
G |
1: 63,776,930 (GRCm39) |
|
probably benign |
Het |
Fcgr2b |
A |
T |
1: 170,795,622 (GRCm39) |
N102K |
possibly damaging |
Het |
Fezf1 |
C |
T |
6: 23,247,842 (GRCm39) |
V78I |
possibly damaging |
Het |
Fmn2 |
A |
T |
1: 174,330,885 (GRCm39) |
D425V |
unknown |
Het |
Fnta |
G |
A |
8: 26,497,229 (GRCm39) |
Q207* |
probably null |
Het |
Fpr3 |
T |
A |
17: 18,190,828 (GRCm39) |
V33D |
probably benign |
Het |
Fshr |
C |
T |
17: 89,292,821 (GRCm39) |
C619Y |
possibly damaging |
Het |
Gbp3 |
T |
C |
3: 142,272,358 (GRCm39) |
|
probably null |
Het |
Gjb2 |
A |
G |
14: 57,337,629 (GRCm39) |
V193A |
possibly damaging |
Het |
Lama5 |
A |
G |
2: 179,818,336 (GRCm39) |
|
probably benign |
Het |
Marveld3 |
G |
T |
8: 110,688,596 (GRCm39) |
D48E |
possibly damaging |
Het |
Meox1 |
A |
T |
11: 101,784,599 (GRCm39) |
I78N |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,283,354 (GRCm39) |
H444Q |
probably damaging |
Het |
Ndst3 |
T |
C |
3: 123,340,466 (GRCm39) |
Q784R |
probably damaging |
Het |
Or10ag2 |
A |
G |
2: 87,248,714 (GRCm39) |
I107M |
probably benign |
Het |
Or4k44 |
T |
A |
2: 111,368,359 (GRCm39) |
I92F |
probably damaging |
Het |
Pld5 |
A |
T |
1: 176,102,445 (GRCm39) |
|
probably benign |
Het |
Plk1 |
G |
A |
7: 121,768,148 (GRCm39) |
R456H |
probably damaging |
Het |
Polr2a |
T |
A |
11: 69,638,840 (GRCm39) |
I65F |
possibly damaging |
Het |
Ptprd |
T |
A |
4: 75,977,922 (GRCm39) |
I196F |
probably damaging |
Het |
Qsox2 |
T |
C |
2: 26,118,408 (GRCm39) |
N121S |
probably damaging |
Het |
Reln |
A |
G |
5: 22,184,664 (GRCm39) |
L1617S |
probably damaging |
Het |
Rragc |
T |
C |
4: 123,823,761 (GRCm39) |
F345L |
probably benign |
Het |
Sass6 |
A |
T |
3: 116,407,605 (GRCm39) |
E240D |
possibly damaging |
Het |
Shcbp1l |
A |
C |
1: 153,311,770 (GRCm39) |
S308R |
possibly damaging |
Het |
Slc1a5 |
T |
A |
7: 16,520,804 (GRCm39) |
C224* |
probably null |
Het |
Slc27a5 |
T |
C |
7: 12,722,999 (GRCm39) |
E567G |
probably damaging |
Het |
Synj2 |
T |
A |
17: 6,088,201 (GRCm39) |
N1417K |
possibly damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,960,791 (GRCm39) |
T214A |
probably damaging |
Het |
Tjp3 |
C |
A |
10: 81,109,699 (GRCm39) |
V835L |
probably benign |
Het |
Trpc4 |
C |
A |
3: 54,129,983 (GRCm39) |
Q250K |
probably benign |
Het |
Ttn |
A |
T |
2: 76,575,506 (GRCm39) |
I25129N |
probably damaging |
Het |
Ube4a |
T |
A |
9: 44,856,163 (GRCm39) |
Y523F |
probably damaging |
Het |
Zfp971 |
G |
A |
2: 177,665,175 (GRCm39) |
|
probably null |
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 |
|
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 |
2013-06-21 |