Incidental Mutation 'R1102:Il4ra'
| ID |
98176 |
| 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 |
039175-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1102 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| 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 125173889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033004]
[ENSMUST00000205985]
[ENSMUST00000206846]
[ENSMUST00000206846]
[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 |
noncoding transcript
Transcript: ENSMUST00000205394
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206681
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206846
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206846
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206846
|
| Meta Mutation Damage Score |
0.9581 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.8%
|
| Validation Efficiency |
98% (60/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
C |
T |
17: 9,211,460 (GRCm39) |
T203M |
probably damaging |
Het |
| Acy3 |
C |
T |
19: 4,037,850 (GRCm39) |
T119I |
probably damaging |
Het |
| Ccdc6 |
C |
A |
10: 70,023,636 (GRCm39) |
H400Q |
possibly damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,281 (GRCm39) |
D134G |
probably damaging |
Het |
| Cct2 |
A |
T |
10: 116,896,545 (GRCm39) |
|
probably null |
Het |
| Cd36 |
A |
G |
5: 18,019,211 (GRCm39) |
F170S |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,807,264 (GRCm39) |
P718S |
probably damaging |
Het |
| Cimip1 |
T |
A |
2: 173,364,516 (GRCm39) |
D20E |
probably damaging |
Het |
| Ctnna3 |
A |
T |
10: 64,421,774 (GRCm39) |
I523L |
probably benign |
Het |
| Dnah1 |
G |
T |
14: 31,018,414 (GRCm39) |
Y1405* |
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,073,738 (GRCm39) |
|
probably null |
Het |
| Drd3 |
T |
C |
16: 43,582,846 (GRCm39) |
L113S |
probably damaging |
Het |
| Emsy |
T |
C |
7: 98,251,796 (GRCm39) |
T735A |
probably damaging |
Het |
| Epha5 |
A |
G |
5: 84,381,434 (GRCm39) |
|
probably benign |
Het |
| Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
| Fbxo10 |
A |
G |
4: 45,043,672 (GRCm39) |
L717P |
probably damaging |
Het |
| Galnt10 |
T |
C |
11: 57,671,871 (GRCm39) |
|
probably benign |
Het |
| Gle1 |
T |
G |
2: 29,834,066 (GRCm39) |
I437M |
possibly damaging |
Het |
| Gpr137b |
T |
C |
13: 13,539,616 (GRCm39) |
|
probably benign |
Het |
| Gsta1 |
T |
C |
9: 78,149,777 (GRCm39) |
F197L |
probably damaging |
Het |
| Icam1 |
G |
A |
9: 20,939,132 (GRCm39) |
V502M |
possibly damaging |
Het |
| Ido1 |
T |
A |
8: 25,083,156 (GRCm39) |
I90F |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,152,257 (GRCm39) |
M1014K |
probably damaging |
Het |
| Mmp13 |
A |
G |
9: 7,272,952 (GRCm39) |
E104G |
possibly damaging |
Het |
| Mms19 |
T |
C |
19: 41,939,284 (GRCm39) |
E495G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,231,647 (GRCm39) |
I820V |
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,440,923 (GRCm39) |
K286E |
possibly damaging |
Het |
| Ndrg1 |
T |
C |
15: 66,816,685 (GRCm39) |
Y110C |
probably damaging |
Het |
| Or1e1c |
G |
A |
11: 73,265,700 (GRCm39) |
V45I |
probably benign |
Het |
| Or4a78 |
A |
T |
2: 89,497,814 (GRCm39) |
C139S |
probably damaging |
Het |
| Or5b118 |
T |
C |
19: 13,448,771 (GRCm39) |
C146R |
probably damaging |
Het |
| Or5b3 |
G |
A |
19: 13,388,454 (GRCm39) |
V174M |
probably damaging |
Het |
| Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
| Pdzd4 |
G |
A |
X: 72,839,052 (GRCm39) |
R419C |
probably damaging |
Het |
| Pnpla7 |
G |
T |
2: 24,886,177 (GRCm39) |
M3I |
probably damaging |
Het |
| Popdc3 |
A |
G |
10: 45,192,642 (GRCm39) |
|
probably benign |
Het |
| Ppp5c |
A |
G |
7: 16,756,368 (GRCm39) |
F112S |
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,678,313 (GRCm39) |
T754A |
possibly damaging |
Het |
| Reep6 |
A |
G |
10: 80,171,080 (GRCm39) |
T319A |
probably benign |
Het |
| Rfx3 |
A |
G |
19: 27,845,000 (GRCm39) |
V43A |
possibly damaging |
Het |
| Rint1 |
A |
G |
5: 24,010,565 (GRCm39) |
|
probably benign |
Het |
| Sacm1l |
T |
G |
9: 123,411,363 (GRCm39) |
V384G |
probably damaging |
Het |
| Shox2 |
A |
T |
3: 66,885,628 (GRCm39) |
L149Q |
probably damaging |
Het |
| Sipa1 |
T |
C |
19: 5,702,782 (GRCm39) |
H805R |
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,059,082 (GRCm39) |
D1095G |
probably benign |
Het |
| Slc5a3 |
G |
T |
16: 91,874,765 (GRCm39) |
W274L |
probably damaging |
Het |
| Spata31e4 |
A |
G |
13: 50,857,118 (GRCm39) |
T919A |
probably benign |
Het |
| Sptbn1 |
G |
T |
11: 30,070,785 (GRCm39) |
H1524Q |
possibly damaging |
Het |
| Ssr1 |
G |
T |
13: 38,171,591 (GRCm39) |
Q149K |
probably benign |
Het |
| Taf7l2 |
T |
C |
10: 115,949,299 (GRCm39) |
S76G |
probably damaging |
Het |
| Thsd7a |
T |
C |
6: 12,555,701 (GRCm39) |
D61G |
possibly damaging |
Het |
| Tmem245 |
T |
C |
4: 56,903,200 (GRCm39) |
|
probably benign |
Het |
| Tmem74 |
T |
C |
15: 43,730,186 (GRCm39) |
T286A |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,938,705 (GRCm39) |
N45D |
probably benign |
Het |
| Trdmt1 |
T |
G |
2: 13,528,225 (GRCm39) |
|
probably benign |
Het |
| Uty |
A |
T |
Y: 1,174,741 (GRCm39) |
Y220N |
probably damaging |
Het |
| Vdr |
T |
C |
15: 97,757,002 (GRCm39) |
Y290C |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,313,132 (GRCm39) |
M734K |
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,332,410 (GRCm39) |
D413G |
possibly damaging |
Het |
| Vps45 |
A |
G |
3: 95,950,253 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCACCTCTCCCAATTCAGAATG -3'
(R):5'- CTGTGACTAGCAGAACATGGCAGG -3'
Sequencing Primer
(F):5'- CTCTCCCAATTCAGAATGGTAGTGG -3'
(R):5'- TGGCAGGAATAATACCAAGCCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation