Incidental Mutation 'R5865:Il4ra'
ID |
454123 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Il4ra
|
Ensembl Gene |
ENSMUSG00000030748 |
Gene Name |
interleukin 4 receptor, alpha |
Synonyms |
IL-4 receptor alpha chain, CD124, Il4r |
MMRRC Submission |
044074-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R5865 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
125151443-125178646 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 125174348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 297
(S297P)
|
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: S297P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000033004 Gene: ENSMUSG00000030748 AA Change: S297P
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.7%
- 20x: 88.7%
|
Validation Efficiency |
91% (59/65) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6a |
G |
A |
3: 32,766,277 (GRCm39) |
V48M |
possibly damaging |
Het |
Adamts2 |
T |
G |
11: 50,694,781 (GRCm39) |
Y1189* |
probably null |
Het |
Bpifb9a |
T |
C |
2: 154,108,756 (GRCm39) |
I419T |
probably benign |
Het |
Ccbe1 |
A |
T |
18: 66,216,222 (GRCm39) |
I167N |
possibly damaging |
Het |
Ccdc187 |
T |
C |
2: 26,183,380 (GRCm39) |
T207A |
probably benign |
Het |
Cd300lf |
G |
A |
11: 115,017,126 (GRCm39) |
L66F |
probably damaging |
Het |
Cenpk |
A |
G |
13: 104,372,702 (GRCm39) |
*92W |
probably null |
Het |
Col12a1 |
A |
T |
9: 79,511,760 (GRCm39) |
S2950R |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,574,331 (GRCm39) |
T2154A |
probably benign |
Het |
Ebna1bp2 |
A |
T |
4: 118,478,332 (GRCm39) |
|
probably benign |
Het |
Elac2 |
G |
T |
11: 64,888,783 (GRCm39) |
C532F |
probably benign |
Het |
Fam171a1 |
T |
A |
2: 3,226,374 (GRCm39) |
D377E |
probably benign |
Het |
Haus6 |
A |
G |
4: 86,504,594 (GRCm39) |
C466R |
possibly damaging |
Het |
Itgb4 |
C |
T |
11: 115,881,748 (GRCm39) |
R766W |
probably damaging |
Het |
Kank4 |
T |
C |
4: 98,659,630 (GRCm39) |
Y816C |
possibly damaging |
Het |
Kcnc4 |
A |
T |
3: 107,365,515 (GRCm39) |
|
probably null |
Het |
Kif21b |
C |
T |
1: 136,078,875 (GRCm39) |
R408* |
probably null |
Het |
Lrrc31 |
A |
G |
3: 30,733,289 (GRCm39) |
V475A |
probably benign |
Het |
Map2k1 |
C |
T |
9: 64,098,548 (GRCm39) |
|
probably null |
Het |
Mc3r |
T |
A |
2: 172,091,592 (GRCm39) |
N271K |
possibly damaging |
Het |
Ms4a14 |
A |
G |
19: 11,281,581 (GRCm39) |
S326P |
possibly damaging |
Het |
Muc6 |
T |
A |
7: 141,236,769 (GRCm39) |
I358F |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,204,770 (GRCm39) |
D1541G |
probably damaging |
Het |
Myof |
T |
C |
19: 37,899,382 (GRCm39) |
S1793G |
probably damaging |
Het |
Nfkb1 |
T |
A |
3: 135,309,541 (GRCm39) |
T518S |
probably damaging |
Het |
Nphs1 |
T |
A |
7: 30,173,810 (GRCm39) |
I989N |
probably damaging |
Het |
Or5m12 |
T |
C |
2: 85,734,865 (GRCm39) |
T178A |
probably benign |
Het |
Pcdha5 |
T |
C |
18: 37,094,474 (GRCm39) |
F328L |
probably benign |
Het |
Pclo |
T |
A |
5: 14,764,492 (GRCm39) |
S4322T |
probably benign |
Het |
Peg10 |
A |
G |
6: 4,754,375 (GRCm39) |
N52S |
probably damaging |
Het |
Phf10 |
A |
C |
17: 15,175,272 (GRCm39) |
|
probably benign |
Het |
Pip4p1 |
A |
G |
14: 51,166,332 (GRCm39) |
|
probably benign |
Het |
Psme4 |
T |
C |
11: 30,741,993 (GRCm39) |
I152T |
possibly damaging |
Het |
Ptpn18 |
T |
A |
1: 34,510,644 (GRCm39) |
|
probably benign |
Het |
Rufy4 |
A |
T |
1: 74,185,914 (GRCm39) |
Y527F |
probably damaging |
Het |
Snx32 |
T |
C |
19: 5,546,382 (GRCm39) |
M293V |
probably benign |
Het |
Sorl1 |
A |
T |
9: 41,894,330 (GRCm39) |
L1827M |
possibly damaging |
Het |
Sstr5 |
T |
A |
17: 25,710,218 (GRCm39) |
D337V |
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,573,631 (GRCm39) |
F194L |
probably benign |
Het |
Tcerg1 |
T |
A |
18: 42,669,413 (GRCm39) |
W459R |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,192,860 (GRCm39) |
I525L |
probably benign |
Het |
Trim43b |
C |
T |
9: 88,967,659 (GRCm39) |
V325I |
probably benign |
Het |
Txndc11 |
A |
T |
16: 10,940,552 (GRCm39) |
I180K |
probably damaging |
Het |
Vmn1r193 |
A |
G |
13: 22,403,395 (GRCm39) |
L199P |
probably damaging |
Het |
Vmn2r110 |
A |
G |
17: 20,804,557 (GRCm39) |
M121T |
probably benign |
Het |
Zfhx4 |
G |
C |
3: 5,467,719 (GRCm39) |
A2626P |
probably damaging |
Het |
Zfp445 |
C |
T |
9: 122,682,552 (GRCm39) |
S463N |
probably benign |
Het |
Zwilch |
T |
A |
9: 64,080,190 (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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCCCTTTCACTGGTGTG -3'
(R):5'- ACTCAGCCACCCATGATTGC -3'
Sequencing Primer
(F):5'- GCAGAGGCTGAGACTCCCAG -3'
(R):5'- GAATTGATTGCCACCAGC -3'
|
Posted On |
2017-02-10 |